This document describes two case reports of patients with atypical benign childhood epilepsy with centrotemporal spikes (BECTS) who were also diagnosed with homocystinuria.
Patient 1 experienced seizures characterized by right arm jerking and speech arrest from age 3.5. Testing at age 6 showed BECTS on EEG but homocystinuria was not diagnosed until 18 months later. Treatment for homocystinuria resolved her seizures.
Patient 2 had a single febrile seizure at age 3 and two afebrile seizures at age 9 with EEG also showing BECTS. He was later found to have homocystinuria biochemically. Both patients showed improvement of neurological symptoms with
This document discusses mesial temporal sclerosis, a common cause of temporal lobe epilepsy. It presents a case of a 23-year old woman with intractable seizures beginning with an odd smell and staring spells. Mesial temporal lobe epilepsy often begins in late adolescence/early adulthood and can be caused by hippocampal sclerosis or other lesions. Clinical features include auras and seizures characterized by automatisms or dystonic posturing localized to the affected temporal lobe. EEGs show interictal temporal spikes maximum over the affected side while ictal patterns involve rhythmic activity spreading within and between temporal lobes. MRI is used to identify hippocampal sclerosis or other lesions as the cause of seizures.
mesial temporal sclerosis and resistant psychosisShokry Alemam
This document presents the case of a 32-year-old female patient with a long history of psychiatric symptoms including auditory hallucinations, paranoia, disorganized behavior, and mood changes. She had been previously diagnosed with schizoaffective disorder and treated with various antipsychotic and mood stabilizing medications without significant improvement. Upon further evaluation, it was discovered that the patient had mesial temporal sclerosis seen on brain imaging studies. After adjusting treatment to focus on epilepsy with medications like clonazepam and carbamazepine, her symptoms improved, suggesting her psychosis was likely due to untreated temporal lobe epilepsy rather than a primary psychiatric condition.
This document provides definitions and classifications of seizures and epilepsy. It discusses who needs neuroimaging for epilepsy and recommends MRI as the best imaging modality. It reviews common MRI protocols and discusses key imaging findings and features of various epilepsy etiologies. Recent advances in neuroimaging for epilepsy are also summarized, including quantitative MRI techniques like volumetry, voxel-based morphometry, and texture analysis as well as advanced techniques like diffusion tensor imaging, tractography, magnetic resonance spectroscopy, and functional MRI.
This document provides information about three types of neuralgias: hemicrania continua, trigeminal neuralgia, and glossopharyngeal neuralgia. It discusses the epidemiology, etiology, pathophysiology, clinical features, diagnosis, treatment including medical and surgical options for each condition. Key points include that hemicrania continua is characterized by continuous unilateral headache with exacerbations, trigeminal neuralgia causes sudden unilateral facial pain, and glossopharyngeal neuralgia results in pain in the throat and ear. Medical treatments involve medications like indomethacin, carbamazepine, baclofen and surgical options include nerve blocks and ablations.
CIDP is a chronic acquired demyelinating neuropathy. It has two patterns - a continuous progressive course over months to years or a relapsing course with partial recovery between episodes. Diagnosis requires documentation of demyelination through electrodiagnostic testing, CSF analysis and sometimes nerve biopsy. Treatment includes corticosteroids, IVIG and plasmapheresis, which are effective in around 50-70% of patients. Corticosteroids are usually the first line treatment, starting with high dose prednisone and slowly tapering as response occurs.
Neurology 2nd investigation of neurological diseaseRamiAboali
This document discusses various neurological investigations and presenting problems. It provides details on neuroimaging techniques like CT, MRI, EEG and lumbar puncture. It also describes nerve conduction studies and evoked potentials. Common presenting problems covered include syncope, coma, and alterations in behavior like delirium and dementia. Causes, diagnosis, and management are discussed for syncope and coma. The document is a reference for neurology that outlines different testing and clinical presentations.
This document presents the case of a 70-year-old man who presented with progressive left greater than right sensorineural hearing loss and gait instability over 3-4 months. His medical history includes diabetes, hypertension, COPD, prostate cancer, and a total colectomy. Physical exam revealed horizontal nystagmus to the left, decreased hearing on the left, and an inability to perform tandem gait. MRI showed diffuse hyperintense nodular lesions involving the cerebellum, brainstem, and spine. The differential diagnosis discussed includes neurosarcoidosis, metastatic disease, primary CNS tumors such as glioma, and leptomeningeal metastases.
This document discusses mesial temporal sclerosis, a common cause of temporal lobe epilepsy. It presents a case of a 23-year old woman with intractable seizures beginning with an odd smell and staring spells. Mesial temporal lobe epilepsy often begins in late adolescence/early adulthood and can be caused by hippocampal sclerosis or other lesions. Clinical features include auras and seizures characterized by automatisms or dystonic posturing localized to the affected temporal lobe. EEGs show interictal temporal spikes maximum over the affected side while ictal patterns involve rhythmic activity spreading within and between temporal lobes. MRI is used to identify hippocampal sclerosis or other lesions as the cause of seizures.
mesial temporal sclerosis and resistant psychosisShokry Alemam
This document presents the case of a 32-year-old female patient with a long history of psychiatric symptoms including auditory hallucinations, paranoia, disorganized behavior, and mood changes. She had been previously diagnosed with schizoaffective disorder and treated with various antipsychotic and mood stabilizing medications without significant improvement. Upon further evaluation, it was discovered that the patient had mesial temporal sclerosis seen on brain imaging studies. After adjusting treatment to focus on epilepsy with medications like clonazepam and carbamazepine, her symptoms improved, suggesting her psychosis was likely due to untreated temporal lobe epilepsy rather than a primary psychiatric condition.
This document provides definitions and classifications of seizures and epilepsy. It discusses who needs neuroimaging for epilepsy and recommends MRI as the best imaging modality. It reviews common MRI protocols and discusses key imaging findings and features of various epilepsy etiologies. Recent advances in neuroimaging for epilepsy are also summarized, including quantitative MRI techniques like volumetry, voxel-based morphometry, and texture analysis as well as advanced techniques like diffusion tensor imaging, tractography, magnetic resonance spectroscopy, and functional MRI.
This document provides information about three types of neuralgias: hemicrania continua, trigeminal neuralgia, and glossopharyngeal neuralgia. It discusses the epidemiology, etiology, pathophysiology, clinical features, diagnosis, treatment including medical and surgical options for each condition. Key points include that hemicrania continua is characterized by continuous unilateral headache with exacerbations, trigeminal neuralgia causes sudden unilateral facial pain, and glossopharyngeal neuralgia results in pain in the throat and ear. Medical treatments involve medications like indomethacin, carbamazepine, baclofen and surgical options include nerve blocks and ablations.
CIDP is a chronic acquired demyelinating neuropathy. It has two patterns - a continuous progressive course over months to years or a relapsing course with partial recovery between episodes. Diagnosis requires documentation of demyelination through electrodiagnostic testing, CSF analysis and sometimes nerve biopsy. Treatment includes corticosteroids, IVIG and plasmapheresis, which are effective in around 50-70% of patients. Corticosteroids are usually the first line treatment, starting with high dose prednisone and slowly tapering as response occurs.
Neurology 2nd investigation of neurological diseaseRamiAboali
This document discusses various neurological investigations and presenting problems. It provides details on neuroimaging techniques like CT, MRI, EEG and lumbar puncture. It also describes nerve conduction studies and evoked potentials. Common presenting problems covered include syncope, coma, and alterations in behavior like delirium and dementia. Causes, diagnosis, and management are discussed for syncope and coma. The document is a reference for neurology that outlines different testing and clinical presentations.
This document presents the case of a 70-year-old man who presented with progressive left greater than right sensorineural hearing loss and gait instability over 3-4 months. His medical history includes diabetes, hypertension, COPD, prostate cancer, and a total colectomy. Physical exam revealed horizontal nystagmus to the left, decreased hearing on the left, and an inability to perform tandem gait. MRI showed diffuse hyperintense nodular lesions involving the cerebellum, brainstem, and spine. The differential diagnosis discussed includes neurosarcoidosis, metastatic disease, primary CNS tumors such as glioma, and leptomeningeal metastases.
This document provides diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), including:
1) Clinical criteria for typical and atypical CIDP with inclusion/exclusion factors.
2) Definite, probable, and possible electrophysiological criteria involving compound muscle action potential tests.
3) Supportive diagnostic criteria including cerebrospinal fluid analysis, MRI findings, nerve conduction studies, and nerve biopsy results.
It also outlines inclusion/exclusion criteria and supportive criteria specifically for diagnosing pure sensory CIDP without motor involvement.
A 12-year-old female patient presented with left-sided focal motor seizures since age 4. Over time, she developed epilepsia partialis continua, left-sided hemiplegia, and intellectual impairment. EEG and imaging showed abnormalities localized to the right hemisphere. Biopsy findings were consistent with chronic encephalitis. Based on the progressive neurological deficits localized to one hemisphere, in conjunction with inflammatory changes and evidence of viral involvement found on biopsy, the patient was diagnosed with Rasmussen's encephalitis.
Myasthenia gravis is a neuromuscular disorder characterized by abnormal muscle fatigability that improves with rest. It is caused by circulating antibodies that damage acetylcholine receptors at the neuromuscular junction. Symptoms vary but commonly involve the eyes, face, neck and limbs. Treatment involves anticholinesterase medications and thymectomy, as the thymus gland is involved in pathogenesis. Thymectomy guidelines depend on a patient's age, symptoms, and response to medications, with early surgery generally recommended for adult patients. Complete removal of thymic tissue through a standard transternal incision is required for optimal surgical treatment of myasthenia gravis.
Neuroimaging of Alzheimer’s disease and Healthy Aging
BY DR WASIM
UNDER THE GUIDANCE OF
DR R.K.SOLANKI
ANATOMICAL BRAIN IMAGING
CT – cerebral tomography
MRI – magnetic resonance imaging
FUNCTIONAL BRAIN IMAGING
SPECT – single photon emission computed tomography
PET – FDG – Positron emission tomography
BRAIN CHEMISTRY MEASUREMENT
MRS (spectroscopy – NAA/Cr: estimate neuronal volume)
BRAIN PATHOLOGY IMAGING
FDDNP – neurofibrillary pathology
Evolution of Neuroimaging in AD
Computed Tomography
MRI
Volumetric MRI
Functional MRI
FDG Glucose PET
Amyloid Imaging
FDG-PET in AD and MCI
A 12-year-old female patient presented with left-sided focal motor seizures since age 4. She developed progressive left-sided weakness and intellectual impairment. Brain imaging showed prominent right hemispheric atrophy. The diagnosis was Rasmussen's encephalitis. The document provides information on accessing updated case publications and related resources through the editor's website.
NeuroMyelitis Optica Spectrum Disorder (NMOSD) is an inflammatory disorder of the central nervous system characterized by demyelination and damage of the optic nerves and spinal cord. It was previously considered a variant of multiple sclerosis but is now recognized as a distinct condition mediated by autoantibodies against aquaporin-4. NMOSD can present with optic neuritis causing vision loss or transverse myelitis with varying degrees of weakness and sensory loss. Brain involvement is also seen in around half of patients. The disease predominantly affects women and typically involves recurrent, severe attacks with varying recovery. Diagnosis involves identifying clinical features, MRI imaging, and serologic testing for aquaporin-4 antibodies.
A case of Neuromyelitis optica as a presenting manifestation of Systemic Lupu...Apollo Hospitals
Neuromyelitis optica (NMO) is a well characterised, autoimmune, clinicopathological syndrome, which is uncommon and occurs as an isolated entity. Unlike multiple sclerosis, in NMO, the autoimmunity is humorally mediated and the recent availability of Antiaquaporin antibody testing has increased the positive diagnosis of this condition. NMO can also occur in patients with established Systemic Lupus Erythematosis (SLE) who have multiple autoantibodies. The presence of Antiaquaporin antibody is specific for NMO and is seen in patients with SLE who develop inflammatory CNS disease. However, Neuromyelitis optica occurring as a presenting manifestation of SLE is extremely rare and we report one such case.
Neurology 14th diseases of the neuromuscular junction and myopathiesRamiAboali
This document discusses Myasthenia Gravis (MG), a chronic autoimmune neuromuscular disease characterized by varying degrees of muscle weakness. MG is caused by autoantibodies that block neuromuscular transmission, reducing acetylcholine receptors. Symptoms include fatigable weakness of the eyes, face, neck, and limbs. Diagnosis involves tests like the Tensilon test, repetitive nerve stimulation, and antibody tests. Treatment includes anticholinesterases, immunosuppressants, plasma exchange, and sometimes thymectomy. The document also briefly discusses other myopathies and neuromuscular junction disorders like Lambert-Eaton myasthenic syndrome.
1. LETM refers to transverse myelitis (TM) that extends over 3 or more vertebral segments. It has many potential causes including inflammatory, infectious, metabolic, vascular and neoplastic etiologies.
2. Neuromyelitis optica (NMO), an autoimmune condition where antibodies attack astrocytes, is an important consideration as a cause of LETM. Diagnostic criteria for NMO include involvement of the optic nerve and spinal cord.
3. Other conditions like Sjogren's syndrome, systemic lupus erythematosus, Behcet's disease and sarcoidosis can also present with LETM and involve both autoimmune and inflammatory mechanisms. Accur
This document provides information on degenerative disorders of the brain, including aging/senile atrophy, dementia, and specific diseases such as Alzheimer's disease. Key points include:
- Normal aging involves ventricular and sulcal dilatation due to cerebral volume loss known as atrophy. Neuronal loss is minimal.
- Dementia has a wide range of pathologies including degenerative diseases like Alzheimer's and vascular causes.
- MRI is useful for assessing regional brain volume loss and signal abnormalities to help diagnose conditions. Specific sequences target features of different diseases.
- Alzheimer's disease is characterized by plaques, tangles, and neuronal loss. It involves atrophy of mesial temporal and temporoparietal regions
This document discusses various imaging modalities used to identify different cortical zones in epilepsy. It begins with an introduction to epilepsy and the role of neuroimaging. It then describes different cortical zones including the symptomatogenic zone, irritative zone, seizure onset zone, and epileptogenic zone. It discusses imaging techniques like CT, MRI sequences, SPECT, PET and fMRI and how they can help identify these zones. Specific conditions like mesial temporal lobe sclerosis, malformations of cortical development and focal cortical dysplasia are also covered. In summary, the document provides an overview of cortical zones in epilepsy and the various neuroimaging techniques used to identify and localize the epileptic focus.
This presentation provides information on Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). It discusses their etiology, clinical presentation, diagnosis, and physiotherapy management. Both GBS and CIDP result from an autoimmune attack on peripheral nerves causing demyelination. While GBS is acute, CIDP is chronic with progressive symptoms over time. Clinical features include weakness, numbness, and sensory loss. Physiotherapy focuses on maintaining function, mobility, and recovery through various exercises depending on the patient's stage of illness. Prognosis is generally good, with around 65% of GBS patients achieving near complete recovery within a year.
This document provides an overview of Moyamoya disease. It defines Moyamoya disease as a progressive stenosis of the intracranial arteries, typically the internal carotid arteries and proximal middle and anterior cerebral arteries, accompanied by a compensatory network of collaterals at the brain's base. The cause is unknown but genetic factors are believed to play a role. Clinically, it can present with transient ischemic attacks, strokes, or hemorrhage. Diagnosis is based on neuroimaging findings on MRI, MRA, CTA or DSA showing the characteristic vascular changes. Treatment involves medical management as well as surgical revascularization procedures. Prognosis depends on the extent of vascular involvement and collateral formation.
Primary CNS lymphoma (PCNSL) is a rare type of non-Hodgkin lymphoma that affects the brain and spinal cord. It most commonly presents as a solitary mass in the deep brain structures in immunocompetent patients ages 45-65. On imaging, PCNSL typically enhances strongly and homogenously with MRI. A biopsy is required for definitive diagnosis as other conditions like glioblastoma can appear similar. Immunocompromised patients are at higher risk and may present with multiple enhancing lesions with necrosis.
This document summarizes the neuroradiology findings of central nervous system fungal infections. It describes the imaging appearance of common fungal infections like cryptococcosis, aspergillosis, mucormycosis, and candidiasis. Key findings include ring-enhancing lesions on MRI for abscesses, meningeal enhancement for meningitis, and restricted diffusion on DWI for early detection of fungal infections. Imaging plays an important role in the diagnosis and management of CNS fungal diseases.
This document provides information about chronic inflammatory demyelinating polyneuropathy (CIDP), including:
1) CIDP is an autoimmune disorder where the immune system attacks the peripheral nervous system, specifically targeting the myelin insulation around nerves.
2) Symptoms include numbness, tingling, muscle weakness, loss of reflexes, and abnormal sensations that typically start distally and progress proximally.
3) Diagnosis involves nerve conduction studies showing signs of demyelination in multiple nerves as well as EMG findings such as prolonged latencies and conduction blocks. Nerve biopsy may also show signs of inflammation and demyelination.
This document discusses neuroimaging of cerebral ischemia. It describes how MRI can detect ischemia within minutes through diffusion imaging, which shows cytotoxic edema, and perfusion imaging, which shows reduced cerebral blood volume and prolonged mean transit time. Vasogenic edema appears later on T2-weighted MRI. Diffusion and perfusion imaging are recommended for evaluation of acute or early subacute ischemia, along with conventional MRI sequences. MRI is superior to CT for detection of cerebral ischemia, particularly within the first few days.
This document defines and describes pancytopenia and various bone marrow conditions that can cause pancytopenia, including constitutional (inherited) and acquired aplastic anemia. Constitutional pancytopenias are inherited disorders resulting in low blood cell counts. Fanconi anemia is described as the most common constitutional disorder, caused by mutations on FANC genes involved in DNA repair. Acquired aplastic anemia has various etiologies including radiation, drugs, chemicals, viruses, immune diseases, and idiopathic causes. Bone marrow biopsy and chromosomal breakage studies are used in diagnosis. Treatment depends on severity but may include blood transfusions, hematopoietic stem cell transplant, growth factors, steroids, androg
Case of Neonatal Hyperparathyroidism.pdfmehmood ahmad
This case report describes a male infant who presented at 26 days of age with lethargy, hypotonia, dehydration and reluctance to feed due to neonatal severe hyperparathyroidism. Investigations showed elevated serum calcium and parathyroid hormone levels with reduced bone density. The infant was treated medically but eventually required total parathyroidectomy. Neonatal severe hyperparathyroidism is a rare genetic disorder caused by calcium sensing receptor mutations that usually presents in the first 6 months of life and can be life threatening if not properly treated with medical management or surgery.
This document provides diagnostic criteria for chronic inflammatory demyelinating polyneuropathy (CIDP), including:
1) Clinical criteria for typical and atypical CIDP with inclusion/exclusion factors.
2) Definite, probable, and possible electrophysiological criteria involving compound muscle action potential tests.
3) Supportive diagnostic criteria including cerebrospinal fluid analysis, MRI findings, nerve conduction studies, and nerve biopsy results.
It also outlines inclusion/exclusion criteria and supportive criteria specifically for diagnosing pure sensory CIDP without motor involvement.
A 12-year-old female patient presented with left-sided focal motor seizures since age 4. Over time, she developed epilepsia partialis continua, left-sided hemiplegia, and intellectual impairment. EEG and imaging showed abnormalities localized to the right hemisphere. Biopsy findings were consistent with chronic encephalitis. Based on the progressive neurological deficits localized to one hemisphere, in conjunction with inflammatory changes and evidence of viral involvement found on biopsy, the patient was diagnosed with Rasmussen's encephalitis.
Myasthenia gravis is a neuromuscular disorder characterized by abnormal muscle fatigability that improves with rest. It is caused by circulating antibodies that damage acetylcholine receptors at the neuromuscular junction. Symptoms vary but commonly involve the eyes, face, neck and limbs. Treatment involves anticholinesterase medications and thymectomy, as the thymus gland is involved in pathogenesis. Thymectomy guidelines depend on a patient's age, symptoms, and response to medications, with early surgery generally recommended for adult patients. Complete removal of thymic tissue through a standard transternal incision is required for optimal surgical treatment of myasthenia gravis.
Neuroimaging of Alzheimer’s disease and Healthy Aging
BY DR WASIM
UNDER THE GUIDANCE OF
DR R.K.SOLANKI
ANATOMICAL BRAIN IMAGING
CT – cerebral tomography
MRI – magnetic resonance imaging
FUNCTIONAL BRAIN IMAGING
SPECT – single photon emission computed tomography
PET – FDG – Positron emission tomography
BRAIN CHEMISTRY MEASUREMENT
MRS (spectroscopy – NAA/Cr: estimate neuronal volume)
BRAIN PATHOLOGY IMAGING
FDDNP – neurofibrillary pathology
Evolution of Neuroimaging in AD
Computed Tomography
MRI
Volumetric MRI
Functional MRI
FDG Glucose PET
Amyloid Imaging
FDG-PET in AD and MCI
A 12-year-old female patient presented with left-sided focal motor seizures since age 4. She developed progressive left-sided weakness and intellectual impairment. Brain imaging showed prominent right hemispheric atrophy. The diagnosis was Rasmussen's encephalitis. The document provides information on accessing updated case publications and related resources through the editor's website.
NeuroMyelitis Optica Spectrum Disorder (NMOSD) is an inflammatory disorder of the central nervous system characterized by demyelination and damage of the optic nerves and spinal cord. It was previously considered a variant of multiple sclerosis but is now recognized as a distinct condition mediated by autoantibodies against aquaporin-4. NMOSD can present with optic neuritis causing vision loss or transverse myelitis with varying degrees of weakness and sensory loss. Brain involvement is also seen in around half of patients. The disease predominantly affects women and typically involves recurrent, severe attacks with varying recovery. Diagnosis involves identifying clinical features, MRI imaging, and serologic testing for aquaporin-4 antibodies.
A case of Neuromyelitis optica as a presenting manifestation of Systemic Lupu...Apollo Hospitals
Neuromyelitis optica (NMO) is a well characterised, autoimmune, clinicopathological syndrome, which is uncommon and occurs as an isolated entity. Unlike multiple sclerosis, in NMO, the autoimmunity is humorally mediated and the recent availability of Antiaquaporin antibody testing has increased the positive diagnosis of this condition. NMO can also occur in patients with established Systemic Lupus Erythematosis (SLE) who have multiple autoantibodies. The presence of Antiaquaporin antibody is specific for NMO and is seen in patients with SLE who develop inflammatory CNS disease. However, Neuromyelitis optica occurring as a presenting manifestation of SLE is extremely rare and we report one such case.
Neurology 14th diseases of the neuromuscular junction and myopathiesRamiAboali
This document discusses Myasthenia Gravis (MG), a chronic autoimmune neuromuscular disease characterized by varying degrees of muscle weakness. MG is caused by autoantibodies that block neuromuscular transmission, reducing acetylcholine receptors. Symptoms include fatigable weakness of the eyes, face, neck, and limbs. Diagnosis involves tests like the Tensilon test, repetitive nerve stimulation, and antibody tests. Treatment includes anticholinesterases, immunosuppressants, plasma exchange, and sometimes thymectomy. The document also briefly discusses other myopathies and neuromuscular junction disorders like Lambert-Eaton myasthenic syndrome.
1. LETM refers to transverse myelitis (TM) that extends over 3 or more vertebral segments. It has many potential causes including inflammatory, infectious, metabolic, vascular and neoplastic etiologies.
2. Neuromyelitis optica (NMO), an autoimmune condition where antibodies attack astrocytes, is an important consideration as a cause of LETM. Diagnostic criteria for NMO include involvement of the optic nerve and spinal cord.
3. Other conditions like Sjogren's syndrome, systemic lupus erythematosus, Behcet's disease and sarcoidosis can also present with LETM and involve both autoimmune and inflammatory mechanisms. Accur
This document provides information on degenerative disorders of the brain, including aging/senile atrophy, dementia, and specific diseases such as Alzheimer's disease. Key points include:
- Normal aging involves ventricular and sulcal dilatation due to cerebral volume loss known as atrophy. Neuronal loss is minimal.
- Dementia has a wide range of pathologies including degenerative diseases like Alzheimer's and vascular causes.
- MRI is useful for assessing regional brain volume loss and signal abnormalities to help diagnose conditions. Specific sequences target features of different diseases.
- Alzheimer's disease is characterized by plaques, tangles, and neuronal loss. It involves atrophy of mesial temporal and temporoparietal regions
This document discusses various imaging modalities used to identify different cortical zones in epilepsy. It begins with an introduction to epilepsy and the role of neuroimaging. It then describes different cortical zones including the symptomatogenic zone, irritative zone, seizure onset zone, and epileptogenic zone. It discusses imaging techniques like CT, MRI sequences, SPECT, PET and fMRI and how they can help identify these zones. Specific conditions like mesial temporal lobe sclerosis, malformations of cortical development and focal cortical dysplasia are also covered. In summary, the document provides an overview of cortical zones in epilepsy and the various neuroimaging techniques used to identify and localize the epileptic focus.
This presentation provides information on Guillain-Barre syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP). It discusses their etiology, clinical presentation, diagnosis, and physiotherapy management. Both GBS and CIDP result from an autoimmune attack on peripheral nerves causing demyelination. While GBS is acute, CIDP is chronic with progressive symptoms over time. Clinical features include weakness, numbness, and sensory loss. Physiotherapy focuses on maintaining function, mobility, and recovery through various exercises depending on the patient's stage of illness. Prognosis is generally good, with around 65% of GBS patients achieving near complete recovery within a year.
This document provides an overview of Moyamoya disease. It defines Moyamoya disease as a progressive stenosis of the intracranial arteries, typically the internal carotid arteries and proximal middle and anterior cerebral arteries, accompanied by a compensatory network of collaterals at the brain's base. The cause is unknown but genetic factors are believed to play a role. Clinically, it can present with transient ischemic attacks, strokes, or hemorrhage. Diagnosis is based on neuroimaging findings on MRI, MRA, CTA or DSA showing the characteristic vascular changes. Treatment involves medical management as well as surgical revascularization procedures. Prognosis depends on the extent of vascular involvement and collateral formation.
Primary CNS lymphoma (PCNSL) is a rare type of non-Hodgkin lymphoma that affects the brain and spinal cord. It most commonly presents as a solitary mass in the deep brain structures in immunocompetent patients ages 45-65. On imaging, PCNSL typically enhances strongly and homogenously with MRI. A biopsy is required for definitive diagnosis as other conditions like glioblastoma can appear similar. Immunocompromised patients are at higher risk and may present with multiple enhancing lesions with necrosis.
This document summarizes the neuroradiology findings of central nervous system fungal infections. It describes the imaging appearance of common fungal infections like cryptococcosis, aspergillosis, mucormycosis, and candidiasis. Key findings include ring-enhancing lesions on MRI for abscesses, meningeal enhancement for meningitis, and restricted diffusion on DWI for early detection of fungal infections. Imaging plays an important role in the diagnosis and management of CNS fungal diseases.
This document provides information about chronic inflammatory demyelinating polyneuropathy (CIDP), including:
1) CIDP is an autoimmune disorder where the immune system attacks the peripheral nervous system, specifically targeting the myelin insulation around nerves.
2) Symptoms include numbness, tingling, muscle weakness, loss of reflexes, and abnormal sensations that typically start distally and progress proximally.
3) Diagnosis involves nerve conduction studies showing signs of demyelination in multiple nerves as well as EMG findings such as prolonged latencies and conduction blocks. Nerve biopsy may also show signs of inflammation and demyelination.
This document discusses neuroimaging of cerebral ischemia. It describes how MRI can detect ischemia within minutes through diffusion imaging, which shows cytotoxic edema, and perfusion imaging, which shows reduced cerebral blood volume and prolonged mean transit time. Vasogenic edema appears later on T2-weighted MRI. Diffusion and perfusion imaging are recommended for evaluation of acute or early subacute ischemia, along with conventional MRI sequences. MRI is superior to CT for detection of cerebral ischemia, particularly within the first few days.
This document defines and describes pancytopenia and various bone marrow conditions that can cause pancytopenia, including constitutional (inherited) and acquired aplastic anemia. Constitutional pancytopenias are inherited disorders resulting in low blood cell counts. Fanconi anemia is described as the most common constitutional disorder, caused by mutations on FANC genes involved in DNA repair. Acquired aplastic anemia has various etiologies including radiation, drugs, chemicals, viruses, immune diseases, and idiopathic causes. Bone marrow biopsy and chromosomal breakage studies are used in diagnosis. Treatment depends on severity but may include blood transfusions, hematopoietic stem cell transplant, growth factors, steroids, androg
Case of Neonatal Hyperparathyroidism.pdfmehmood ahmad
This case report describes a male infant who presented at 26 days of age with lethargy, hypotonia, dehydration and reluctance to feed due to neonatal severe hyperparathyroidism. Investigations showed elevated serum calcium and parathyroid hormone levels with reduced bone density. The infant was treated medically but eventually required total parathyroidectomy. Neonatal severe hyperparathyroidism is a rare genetic disorder caused by calcium sensing receptor mutations that usually presents in the first 6 months of life and can be life threatening if not properly treated with medical management or surgery.
1. Genetic syndromes of severe insulin resistance include rare monogenic defects that result in conditions like leprechaunism (Donohue syndrome) and Rabson-Mendenhall syndrome. These are caused by mutations in the insulin receptor gene that produce nonfunctional or impaired insulin receptors.
2. Leprechaunism is the most severe form, characterized by intrauterine growth retardation, fasting hypoglycemia, and death in the first 1-2 years of life. It results from autosomal recessive mutations that create inactive insulin receptors. Rabson-Mendenhall syndrome is also autosomal recessive but milder, causing growth abnormalities and androgen excess.
1) A 58-year old male developed central pontine myelinolysis (CPM) and extrapontine myelinolysis (EPM) four days after being discharged from the ICU following treatment for hyponatremia.
2) CPM was first described in 1959 as a demyelinating condition affecting the pons seen in alcoholic and malnourished patients. Subsequent studies found it can result from rapid correction of hyponatremia.
3) The pathogenesis of CPM/EPM involves rapid correction of hyponatremia causing an osmotic gradient that opens the blood-brain barrier, allowing blood factors to enter and cause demyelination. The specific
Minimal change disease is a common cause of nephrotic syndrome in children characterized by proteinuria. It is thought to be caused by T-cells releasing cytokines that damage the glomerular filtration barrier, allowing protein leakage. The main treatments are corticosteroids, which induce remission in most cases, and immunosuppressants for resistant cases. Complications include edema, infections, and thrombosis, requiring diuretics, antibiotics, and anticoagulants respectively.
This document provides an overview of osmotic demyelination syndrome (ODS), also known as central pontine myelinolysis. It discusses the history, controversies in nomenclature, pathology, epidemiology, pathophysiology, clinical features, diagnosis, management including prevention, re-lowering sodium levels, supportive care and investigational therapies, prognosis, and key references. The document is intended as an educational resource for physicians on ODS.
A much-quoted aphorism in medicine is “Listen to your patient and they are telling you the diagnosis”. Most often, the history reveals the diagnosis and sometimes, it is all that is required to make the diagnosis. Unfortunately, in this age of modern technology-based medicine, many busy clinicians fail to get a proper history and miss important dots in the history that connect to the diagnosis. This is clinically relevant, as a specific diagnosis completely alters the nature of treatment and thereby improves prognosis.
Homocystinuria is a disorder of methionine metabolism caused by an inability to metabolize homocysteine. There are three main types: classic homocystinuria caused by cystathionine β-synthase deficiency; defects in methylcobalamin formation; and methylenetetrahydrofolate reductase deficiency. Symptoms vary but can include developmental delay, dislocated lenses, skeletal abnormalities, thromboembolism, and intellectual disability. Treatment depends on the type but may include vitamin B6, betaine, folic acid, vitamin B12, methionine supplementation, and dietary restrictions.
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children.
It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment.
Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs
Movement disorders: A complication of chronic Hyperglycemia? A case reportApollo Hospitals
This case report describes a 77-year-old man who presented with bilateral choreic movements that were predominantly on the right side, along with some dystonic movements. He had long-standing type 2 diabetes that was poorly controlled, with an HbA1c of 17.3%. Brain imaging showed hyperdensity in the putamen and lenticular nucleus. His symptoms improved with insulin treatment and a neuroleptic medication. The report discusses that uncontrolled diabetes can rarely cause movement disorders like chorea due to metabolic disturbances in the basal ganglia from hyperglycemia. Prompt treatment of the hyperglycemia typically leads to resolution of the neurological symptoms.
The document contains a case study of a 29-year-old man presenting with chills and breathing difficulty who is diagnosed with HIV infection based on his history of drug abuse, weight loss, lymphadenopathy, and presence of Kaposi's sarcoma and Pneumocystis pneumonia. It also includes questions about liposomes, collagen, sickle cell anemia, oculo-cutaneous albinism, marasmus, statins, acute intermittent porphyria, megaloblastic anemia, phenylketonuria, and essential amino acids.
Vitamin b12 deficiency presenting as pyrexiaPraveen Nagula
This document discusses a case of an 18-year-old male who presented with pyrexia and pancytopenia. Testing revealed the patient had vitamin B12 deficiency presenting as pyrexia. The patient responded well to vitamin B12 injections, with resolution of fever within 72 hours and improvement of anemia and thrombocytopenia after two weeks. The document emphasizes that vitamin B12 deficiency should be considered in patients presenting with pyrexia and pancytopenia, as it is a treatable cause. Routine testing of vitamin B12 levels could help identify treatable cases.
The document provides information on several genetic disorders including colon cancer, hypothyroidism, Turner syndrome, Down syndrome, pachyonychia congenita, Smith-Magenis syndrome, sickle cell disease, severe combined immunodeficiency, phenylketonuria, neurofibromatosis type 1, maple syrup urine disease, Huntington's disease, adenosine deaminase deficiency, alpha-1 antitrypsin deficiency, Williams syndrome, albinism, cystic fibrosis, Tay-Sachs disease, and Kartagener syndrome. For each disorder, it summarizes the definition, symptoms, causes or genetic changes, inheritance pattern if applicable, prevalence, diagnosis, and available treatments.
Clinical insights and challenges: A rare case report of Leigh syndromebijnnjournal
Leigh syndrome is a severe neurological disorder that impairs mobility and respiration, among other bodily
functions. Progressive brain deterioration is what makes it distinctive. This case report describes a 10-monthold female child who displayed symptoms such as vibratory movements in the right upper and left lower limbs,
failure to thrive, decreased activity, and vomiting after consuming supplemental feeds. Multiple clinical signs of
Leigh syndrome, including missed developmental milestones and mild acute malnutrition, were identified during
a physical examination. So the symptoms that led to the diagnosis of Leigh syndrome were quadriparesis,
dystonia, intermittent stridor (laryngeal dystonia), and bulbar weakness
The document provides information about nephrotic syndrome in children, including:
- A case presentation of a 2-year-old male toddler with nephrotic syndrome presenting with fever, cough, facial swelling, decreased urine output, and hypoalbuminemia.
- Definitions of nephrotic syndrome as characterized by massive proteinuria, hypoalbuminemia, edema, and hyperlipidemia. The most common cause is idiopathic nephrotic syndrome.
- Histologic classifications of nephrotic syndrome including minimal change disease, focal segmental glomerulosclerosis, mesangial proliferative glomerulonephritis, and membranoproliferative
The document discusses two conditions: paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). PNH is a complement-mediated hemolytic anemia treated with the drug eculizumab, a C5a inhibitor. aHUS is a complement-mediated thrombotic microangiopathy that can cause stroke, heart attack, and kidney failure, and is also treated with eculizumab. The document asks the reader to identify PNH, aHUS, and the mode of action of eculizumab.
This document discusses neurological disorders that commonly occur in children with chronic kidney disease (CKD). It identifies several types of neurological complications that can affect the central nervous system and peripheral nervous system. These complications are often multifactorial in nature and can include uremic encephalopathy, cerebrovascular diseases like stroke, seizures, movement disorders, and infections of the nervous system. The pathophysiology of many of these conditions relates to alterations in blood pressure and electrolyte disturbances from CKD. Timely diagnosis and treatment involving nephrologists, neurologists, and radiologists can help manage neurological comorbidities in children with CKD.
1) Hemoglobinopathies are inherited disorders affecting hemoglobin structure or production, ranging from asymptomatic to fatal. The most common types are sickle cell disease and thalassemias.
2) Thalassemias are caused by deficient production of globin chains, leading to imbalanced globin synthesis and red blood cell damage. Beta thalassemias result from low beta chain production while alpha thalassemias involve alpha chains.
3) Clinical features vary by specific disorder from mild anemia to transfusion-dependent anemia and organ damage. Management involves treatment of complications, transfusions, chelation therapy, and in severe cases, stem cell transplant.
Movement disorders: A complication of chronic hyperglycemia? A case reportApollo Hospitals
A 77-year-old man presented with bilateral choreic movements that had developed over the past month. He had a history of poorly controlled type 2 diabetes. At admission, he was found to have severe hyperglycemia without ketosis. A CT scan showed hyperdensity in the putamen and lenticular nucleus. Treatment with insulin, haloperidol, and glycemic control led to regression of the choreic movements within 4 days. Chorea secondary to nonketotic hyperglycemia is a rare complication of uncontrolled diabetes that is usually reversible with normalization of blood glucose levels and neuroleptic treatment. The pathophysiology is thought to involve metabolic disturbances from hyperglycemia impairing neurotransmission in basal ganglia structures and
This document discusses botulism, a rare but potentially life-threatening illness caused by a toxin produced by the bacterium Clostridium botulinum. It enters the body through foodborne, wound, or infant exposure and causes descending muscle weakness. Symptoms include blurred vision, drooping eyelids, slurred speech, and paralysis. Proper diagnosis requires detecting the toxin in blood or stool samples. Treatment involves antitoxin administration and supportive care such as ventilation. With prompt treatment, mortality rates are low at 5-8%; respiratory failure is the main cause of death.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.
Histololgy of Female Reproductive System.pptxAyeshaZaid1
Dive into an in-depth exploration of the histological structure of female reproductive system with this comprehensive lecture. Presented by Dr. Ayesha Irfan, Assistant Professor of Anatomy, this presentation covers the Gross anatomy and functional histology of the female reproductive organs. Ideal for students, educators, and anyone interested in medical science, this lecture provides clear explanations, detailed diagrams, and valuable insights into female reproductive system. Enhance your knowledge and understanding of this essential aspect of human biology.
share - Lions, tigers, AI and health misinformation, oh my!.pptxTina Purnat
• Pitfalls and pivots needed to use AI effectively in public health
• Evidence-based strategies to address health misinformation effectively
• Building trust with communities online and offline
• Equipping health professionals to address questions, concerns and health misinformation
• Assessing risk and mitigating harm from adverse health narratives in communities, health workforce and health system
Does Over-Masturbation Contribute to Chronic Prostatitis.pptxwalterHu5
In some case, your chronic prostatitis may be related to over-masturbation. Generally, natural medicine Diuretic and Anti-inflammatory Pill can help mee get a cure.
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Kat...rightmanforbloodline
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
TEST BANK For Basic and Clinical Pharmacology, 14th Edition by Bertram G. Katzung, Verified Chapters 1 - 66, Complete Newest Version.
Cell Therapy Expansion and Challenges in Autoimmune DiseaseHealth Advances
There is increasing confidence that cell therapies will soon play a role in the treatment of autoimmune disorders, but the extent of this impact remains to be seen. Early readouts on autologous CAR-Ts in lupus are encouraging, but manufacturing and cost limitations are likely to restrict access to highly refractory patients. Allogeneic CAR-Ts have the potential to broaden access to earlier lines of treatment due to their inherent cost benefits, however they will need to demonstrate comparable or improved efficacy to established modalities.
In addition to infrastructure and capacity constraints, CAR-Ts face a very different risk-benefit dynamic in autoimmune compared to oncology, highlighting the need for tolerable therapies with low adverse event risk. CAR-NK and Treg-based therapies are also being developed in certain autoimmune disorders and may demonstrate favorable safety profiles. Several novel non-cell therapies such as bispecific antibodies, nanobodies, and RNAi drugs, may also offer future alternative competitive solutions with variable value propositions.
Widespread adoption of cell therapies will not only require strong efficacy and safety data, but also adapted pricing and access strategies. At oncology-based price points, CAR-Ts are unlikely to achieve broad market access in autoimmune disorders, with eligible patient populations that are potentially orders of magnitude greater than the number of currently addressable cancer patients. Developers have made strides towards reducing cell therapy COGS while improving manufacturing efficiency, but payors will inevitably restrict access until more sustainable pricing is achieved.
Despite these headwinds, industry leaders and investors remain confident that cell therapies are poised to address significant unmet need in patients suffering from autoimmune disorders. However, the extent of this impact on the treatment landscape remains to be seen, as the industry rapidly approaches an inflection point.
TEST BANK For Community Health Nursing A Canadian Perspective, 5th Edition by...Donc Test
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Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
2. Homocystinuri
a
A recently discovered cause of mental defect and cerebrovascular thrombosi
s
Henry G. Dunn, Thomas L. Perry, Clarisse L. Dolma
n
Neurology Apr 1966, 16 (4) 407; DOI: 10.1212/WNL.16.4.407
3. HOMOCYSTINURIA
An IEM assoc with mental retardation
Urine gives a positive cyanide nitroprusside reaction for cystine
Urine excretes large amount of homocysteine and moderate methinine
Clinical features:skeletal deformities, mental retardation, dislocation of
lens, fine fair hair,malar flush,livedo reticular,shuffling gait
7. CASE REPORT
9-year-old girl presented with right-hand dystonia and gait dif
fi
culty.
At 4 yrs old,she experienced blurred vision and was operated for lens dislocation 3 years later.
At 8 yr old,she had a history of severe low back pain and experienced right femur fracture.
There was a family history of undiagnosed progressive motor disability in her older brother, which
fi
nally resulted in seizure and death.
Her parents had consanguineous marriage.
On physical examination, she had fair and wooly hair and mild
fi
xed oromandibular dystonia presenting as
fi
xed smiling.
On chest examination, pectus carinatum was evident.
There was no eye deviation in primary position. All types of horizontal and vertical eye movements were preserved.
At rest, she had dystonic posture in her limbs on both sides, with more severity on the right side.
Attempted movements of the right hand worsened the abnormal postures. There was mild motor de
fi
cit on rt side
8. CASE REPORT
Deep tendon re
fl
exes were prominent on right side as well. She was unable to stand unsupported. While aiding in walking her dystonic
gait was revealed.
Her blood cell count, liver function test, thyroid function test, calcium, serum ceruloplasmin, 24-hour urine copper, and serum B12 were
within the normal range. Serum homocyteine was measured as 200 nmol/mL.
Carotid Doppler sonography demonstrated left carotid narrowing without evidence of thrombosis. Carotid intima–media thickness (IMT)
was within normal range on both sides.
9. RADIOLOGICAL
Her brain magnetic resonance imaging (MRI) revealed deep
watershed infarct in left centrum semiovale
.
Basal ganglia were normal.
11. TREATMENT
The patient was treated with high dose of oral pyridoxine (360 mg daily) and put on methionine-restricted diet.
She was followed up monthly for clinical evaluation and response to treatment.
She attained the ability of standing and walking without help.
She showed a remarkable recovery from her limb dystonia, although nothing was completely normal
.
After 3 months and 9 months of treatment, serum Hcy decreased to 40 nmol/mL and 26.5 nmol/mL,
respectively.
The second carotid Doppler did not show any change.
12. DICUSSION
Homocystinuria is the second most common treatable aminoacidopathy after phenylketunuria.
Homocysteine, an intermediate metabolite of methionine catabolism, can be removed in 2 ways.
Cystathionine b-synthase (CBS) is an enzyme that catalyzes Hcy irreversibly by the means of B6 as the
cofactor. This is called transsulfuration
.
In the second way, methionine is rebuilt through remethylation, by means of either methylenetetrahydrofolate
reductase or methionine synthase. In the
fi
rst pathway, Hcy is converted into methionine in the presence of
coenzyme, methylcobalamine. Folic acid is the substrate in this reaction.
13. DICUSSION
Mutation in the encoding gene of each of these enzymes can result in homocystinuria
.
The most common genetic disorder is CBS de
fi
ciency (homocystinuria type I)
.
The reported world- wide incidence of this rare autosomal recessive disorder is between 1 in 50 000
and 1 in 200 000
The clinical manifestation of CBS de
fi
ciency is diversely heterogenou
s
4 organs are dominantly affected, namely ‘‘central nervous system, eye, skeletal, and vascular system.’
’
These patients are often normal at birth.
Homocysinuria, due to CBS de
fi
ciency, usually manifests itself as ocular lens subluxation, which results
in severe myopia and iridiodonesis.
In a large number of patients, ectopic lentis occurs by the age of 8 years
14. CLINICAL FEATURES
Skeletal abnormalities -a common manifestation as in Marfan syndrome.
Eg: fair wooly hairs, blue eyes, livedo reti- cularis, limitation of joint mobility, scoliosis, high-arched palate,
pes cavus, pectus excavatum or pectus carinatum, and genu valgum and osteoporosis, especially of vertebrae
and long bones.
Central nervous system involvement includes progressive mental retardation, seizure, dystonia, behavioral and
personality disorder, and stroke due to thromboembolic syndromes.
Premature vascular events are the major causes of early death and morbidity
.
Vascular injury is proposed to be due to ‘‘endothelial dysfunction, smooth muscle proliferation, extracellular
matrix modi
fi
cation, lipoprotein oxidation, and increased thrombin production.’
’
Endothelial dysfunction is the result of nitric oxide release impairment, thereby disturbing vasodilation and
facilitating platelet aggregation.
Earlier studies=hyperhomocysteinemia provokes intima hypertrophy and resultant increased intima media
thickness
15. TREATMENT
Early diagnosis and treatment might prevent ectopic lentis and other serious complication including thrombotic
events
.
Since in half of the patients with homocystinuria 1% to 5% of CBS activity is normal, high dose of pyridoxine
(B6) with a dosage of 200 mg/d, can ameliorate clinical and laboratory signs signi
fi
cantly
.
Even in cases with certain CBS gene mutation and nonresponsive to B6, high dose of B6 administration (500-1000
mg daily) is recommended
.
In addition to methionine restriction, betaine is the second treatment that lowers plasma Hcy through Hcy
remethylation
.
Finally, folate and cobalamine are other adjunctive treatments that help reducing serum Hcy concentration
.
Normal range of plasma Hcy concentration between 5 and 15 nmol/mL,(recommended <11nmol/mL)
16. Atypical BECTS and homocystinuria
S. Buoni, R. M. di Bartolo, M. Molinelli, et al. Neurology 2003;61;1129-1131
DOI 10.1212/01.WNL.0000090460.77321.B0
17. INTRODUCTION
Benign childhood epilepsy with centrotemporal spikes (BECTS) consists of a peculiar EEG pattern with migratory spikes originating over the rolandic
(centrotemporal or midtemporal) regions.
The annual incidence is 21/ 100,000 in children < 15 years.
Typical BECTS patients are characterized by absence of neurologic or intellectual de
fi
cits, motor partial seizures with or without generalization
recurring mostly during sleep, and a peculiar EEG pattern with centrotemporal spikes.
In general, BECTS is associated with excellent prognosis, seizures being dif
fi
cult to control in only a small number of cases.
Atypical BECTS symptoms are seen in 50% of patients
.
The atypical clinical manifestations include hemifacial seizures, dysarthria or anarthria, and persistent drooling
.
Fortuitous associations have been found between BECTS and nonprogressive brain lesions (e.g., unilateral opercular neuronal migration disorders)and
brain tumors
18. CASE 1
Patient 1 is an 11-year-old girl, apparently healthy
.
She was referred to our clinic when she was 6, with a history of seizures since she was 3.5 years old
.
The seizures were characterized by clonic jerks of the right arm accompanied by twitching of the right corner of the
mouth, on one instance with loss of consciousness.
Treatment with valproate (up to 40 mg/kg/day) was started, and the seizures were apparently controlled for 3 months.
Later, she experienced brief partial seizures with speech arrest, clonus of the right arm, sometimes loss of consciousness,
and transient right arm paresis (Todd’s paresis).
Valproate was substituted by carbamazepine up to 30 mg/kg/day without producing any improvement.
19. CASE 1
At 6 years of age, her clinical and neurologic examinations and brain MRI were normal
.
Her IQ was 78 (Wechsler Intelligence Scale for Children–Revised), and waking EEG showed a symmetric, well-organized, and normal reactive back- ground
activity. Migratory negative diphasic spikes and spike and slow wave patterns at high voltage (100 to 150
V) were present in her centrotemporal regions,
increasing during drowsiness and sleep. This EEG pattern is suggestive of BECTS.
Homocystinuria was diagnosed 18 months later, when she came again to our observation because of a cerebral venous thrombosis and we commenced screening
for risk factors associated with venous thromboembolism. The biochemical
fi
ndings are suggestive of homocystinuria (MIM *236200).8 She proved
homozygous for a C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) and heterozygous for the A114V polymorphism in the
cystathionine
-synthase gene
.
Serum levels of homocysteine and methionine normalized after a trial of treatment with pyridoxine at 300 mg/day for a week. Continued treatment with
pyridoxine (300 mg/day) and folic acid (7 mg/day) was therefore added to that with carbamazepine (25 mg/kg/day). Since then, the girl was wel
l
20.
21. CASE 2
Patient 2 is an apparently healthy 23-year-old man. He had a single simple febrile seizure when he was 3 years old.
When he was 9, he was referred to our clinic because of two afebrile seizures, characterized by motor and speech arrest, star- ing, and generalized
hypertonia. His clinical and neurologic exam- inations were normal.
Brain MRI scans showed glial tissue areas in the white matter of both the cerebral hemispheres.
His IQ was 57 (Wechsler Intelligence Scale for Children–Revised).
Several waking EEG showed a pattern suggestive of BECTS , very similar to that described for Patient 1 The biochemical
fi
ndings were suggestive for
homocystinuria (MIM *236200).8 There were no C677T polymorphisms in the MTHFR gene.
Analysis for mutations in the cystathionine
-synthase gene was not available. His serum abnormalities were not modi
fi
ed by treatment with pyridoxine
(300 mg/day for a week), so this was stopped.
We started a low-methionine diet, and he did not develop any further seizures.
22. CASE 3
Patient 3 is an apparently healthy 16-year-old boy.
Seizures had presented since he was 4 years old with deviation of his eyes and head to the left,
vomiting, and sometimes loss of consciousness and generalized hypertonia.
The seizures occurred one to six times per year. They were unresponsive to treatment with valproate
(up to 40 mg/kg/day) and phenobarbital (up to 4 mg/kg/day)
.
Clinical and neurologic examinations and brain MRI scans were normal. His learning skill was poor.
Several waking EEG showed a pat-tern suggestive of BECTS . The biochemical
fi
ndings were
suggestive for homocystinuria (MIM *236200)
.
Analyses for C677T polymorphisms in the MTHFR gene and for the cystathionine
-synthase gene
were not available. Treatment with pyridoxine (900 mg/day) and folic acid (7 mg/day) was added to
phenobarbital (1.5 mg/kg/day).
Since then, he has not developed any further seizures. The drugs were slowly withdrawn after 1 year.
23.
24. DISCUSSION
Homocystinuria, as de
fi
ned in Online Mendelian Inheritance in Man (MIM *236200), is a metabolic disorder caused by a
cystathionine -synthase gene de
fi
ciency, with increased serum concentrations of homocysteine and methionine.
The worldwide frequency is 1 in 344,000.
CNS impairment is present with mental delay, psychiatric disturbances, and evidence of other CNS problems (seizures, abnormal
unspeci
fi
ed EEG, extrapyramidal signs, and cerebrovascular accidents).
Seizures are reported in 21% of patients, most often as a grand mal type.To the best of our knowledge, no speci
fi
c EEG pattern has
ever been described. The only report on an association between homocystinuria and EEG pattern was by Del Giudice et al.Ten of their
19 patients showed abnormalities in their EEG, the most frequent being a nonspeci
fi
c slowing of background activity.
25. DISCUSSION
In all our patients, the EEG were suggestive of BECTS, although the clinical features were not.
The patients experienced partial complex seizures, which are uncommon in BECTS, although they
can be present in a small proportion (4.3%) of cases
.
Other features atypical of BECTS were the intelligence impairment and the resistance to drug
treatments in two of the patients
.
Resistance to drug treatment was not detected in Patient 2, as his homocystinuria was diagnosed
very soon after the seizures started.
The absence of typical BECTS somatic appearances (i.e., the absence of short body, long arms and
legs, and lens ectopia), yet the EEG pattern suggestive of BECTS, led to a delay in the diagnosis of
homocystinuria for several years, until metabolic evaluations could be performed.
Screening for homocystinuria needs to be considered in the presence of the nonspeci
fi
c nature of
BECTS EEG traits if these are observed together with borderline mental normality.