This study examined 63 patients presenting with vitamin B12 deficiency-related neurological syndromes. The most common neurological manifestation was myeloneuropathy, seen in 54% of patients. Neuropsychiatric symptoms including dementia were observed in 38% of patients. All patients showed megaloblastic changes in bone marrow smears. Treatment with parenteral vitamin B12 injections resulted in improvement in 54% of patients after 6 months of follow up. A normal hemoglobin or MCV level does not rule out vitamin B12 deficiency.
Rituximab is a monoclonal antibody that targets B cells. It is used to treat various neurological conditions associated with autoantibodies or B cell dysfunction, including refractory myasthenia gravis, NMOSD, autoimmune encephalitis, and relapsing MS. The document discusses B cell biology, mechanisms of action of rituximab, indications, dosing, efficacy evidence, risks and monitoring considerations for rituximab's use in neurology. Key risks include infusion reactions and secondary infections due to prolonged B cell depletion.
Enzyme replacement therapy in neurological disordersNeurologyKota
This document discusses enzyme replacement therapy (ERT) for lysosomal storage disorders. It provides details on ERT including its development, mechanisms, available products, dosing and costs. Challenges with ERT include limited blood-brain barrier penetration and immunogenicity. Alternative therapies discussed include substrate reduction therapy, pharmacological chaperones, and direct delivery of enzymes into the cerebrospinal fluid. ERT remains the standard treatment but has limitations for treating neurological manifestations of lysosomal storage disorders.
This study examines changes in dendritic branching and spines in the frontal, temporal, and parietal cortex from individuals diagnosed as non-cognitively impaired (NCI), with mild cognitive impairment (MCI), or with Alzheimer's disease (AD). Brain tissue was analyzed using the Golgi impregnation method to quantify dendritic branching and spines. Results showed each cortical region had distinct patterns of dendritic changes from NCI to MCI to AD. The temporal cortex saw a 20% loss of branching in MCI and a further 5% loss in AD. The parietal cortex had a mild 4% loss in MCI and a 10% loss in AD. In contrast, the frontal cortex showed a
Stem cell therapy shows promise for treating various neurological disorders. There are two main types of stem cells - embryonic stem cells which are pluripotent, and adult stem cells which are multipotent. Stem cells may promote cell replacement in damaged organs through proliferation, migration, and differentiation. Challenges include optimal cell types and doses, monitoring transplanted cells, and ensuring safety. While stem cell therapy is being studied for conditions like Alzheimer's, Parkinson's, ALS, and stroke, more research is still needed to address current obstacles in translating laboratory findings to clinical applications.
Leigh syndrome is a rare neurodegenerative disease caused by mitochondrial dysfunction from a genetic defect. It is characterized by bilateral brain lesions seen on imaging and variable symptoms. While it typically presents in infancy, it can occasionally present in adulthood. The diagnosis involves identifying characteristic brain lesions. Treatment focuses on nutritional supplementation like biotin and thiamine, as well as managing symptoms, but there is no cure for the underlying genetic condition.
Long-term cognitive impairment after critical illness (CIACI) is frequently reported in up to 66% of patients three months after intensive care hospitalization. The condition has overlapping neurological changes with stroke, traumatic brain injury, and neurodegenerative disorders. Risk factors for CIACI include depression, biomarkers for Alzheimer's disease, delirium duration during hospitalization, and exposure to certain drugs. Current strategies to prevent or treat CIACI focus on reducing delirium and agitation, as well as physical and cognitive rehabilitation. Neurotrophic factors may play a role in neurogenesis, blood-brain barrier integrity, and neuronal repair, suggesting they could be a potential target for novel CIACI treatments.
The new gene transfer strategy shows promise for treating muscular dystrophies by delivering full-length genes. Traditionally, gene therapy used viruses like AAV but they have size limitations. This strategy uses AAV5 to deliver an intact dysferlin gene to mice, repairing deficits. A new economical and biocompatible strategy uses nanoparticles carrying hypoxia-regulated VEGF for cardiac repair, improving heart function. Gene therapy brings benefits and making treatment more effective and safe for diseases.
This document discusses Leber's Hereditary Optic Neuropathy-Multiple Sclerosis (LHON-MS), a rare condition where patients present with features of both LHON and MS. Key points: LHON-MS occurs more frequently than expected by chance and has overlaps in clinical and molecular features between the two diseases. Patients are often young women who have the m.11778G>A mutation and experience multiple visual events leading to unilateral vision loss. While diagnosis involves clinical evaluation, MRI imaging and oligoclonal bands, there are no clear treatment guidelines. Treatment is usually decided on a case-by-case basis and may involve idebenone for LHON, immunomodulators for MS, or
Rituximab is a monoclonal antibody that targets B cells. It is used to treat various neurological conditions associated with autoantibodies or B cell dysfunction, including refractory myasthenia gravis, NMOSD, autoimmune encephalitis, and relapsing MS. The document discusses B cell biology, mechanisms of action of rituximab, indications, dosing, efficacy evidence, risks and monitoring considerations for rituximab's use in neurology. Key risks include infusion reactions and secondary infections due to prolonged B cell depletion.
Enzyme replacement therapy in neurological disordersNeurologyKota
This document discusses enzyme replacement therapy (ERT) for lysosomal storage disorders. It provides details on ERT including its development, mechanisms, available products, dosing and costs. Challenges with ERT include limited blood-brain barrier penetration and immunogenicity. Alternative therapies discussed include substrate reduction therapy, pharmacological chaperones, and direct delivery of enzymes into the cerebrospinal fluid. ERT remains the standard treatment but has limitations for treating neurological manifestations of lysosomal storage disorders.
This study examines changes in dendritic branching and spines in the frontal, temporal, and parietal cortex from individuals diagnosed as non-cognitively impaired (NCI), with mild cognitive impairment (MCI), or with Alzheimer's disease (AD). Brain tissue was analyzed using the Golgi impregnation method to quantify dendritic branching and spines. Results showed each cortical region had distinct patterns of dendritic changes from NCI to MCI to AD. The temporal cortex saw a 20% loss of branching in MCI and a further 5% loss in AD. The parietal cortex had a mild 4% loss in MCI and a 10% loss in AD. In contrast, the frontal cortex showed a
Stem cell therapy shows promise for treating various neurological disorders. There are two main types of stem cells - embryonic stem cells which are pluripotent, and adult stem cells which are multipotent. Stem cells may promote cell replacement in damaged organs through proliferation, migration, and differentiation. Challenges include optimal cell types and doses, monitoring transplanted cells, and ensuring safety. While stem cell therapy is being studied for conditions like Alzheimer's, Parkinson's, ALS, and stroke, more research is still needed to address current obstacles in translating laboratory findings to clinical applications.
Leigh syndrome is a rare neurodegenerative disease caused by mitochondrial dysfunction from a genetic defect. It is characterized by bilateral brain lesions seen on imaging and variable symptoms. While it typically presents in infancy, it can occasionally present in adulthood. The diagnosis involves identifying characteristic brain lesions. Treatment focuses on nutritional supplementation like biotin and thiamine, as well as managing symptoms, but there is no cure for the underlying genetic condition.
Long-term cognitive impairment after critical illness (CIACI) is frequently reported in up to 66% of patients three months after intensive care hospitalization. The condition has overlapping neurological changes with stroke, traumatic brain injury, and neurodegenerative disorders. Risk factors for CIACI include depression, biomarkers for Alzheimer's disease, delirium duration during hospitalization, and exposure to certain drugs. Current strategies to prevent or treat CIACI focus on reducing delirium and agitation, as well as physical and cognitive rehabilitation. Neurotrophic factors may play a role in neurogenesis, blood-brain barrier integrity, and neuronal repair, suggesting they could be a potential target for novel CIACI treatments.
The new gene transfer strategy shows promise for treating muscular dystrophies by delivering full-length genes. Traditionally, gene therapy used viruses like AAV but they have size limitations. This strategy uses AAV5 to deliver an intact dysferlin gene to mice, repairing deficits. A new economical and biocompatible strategy uses nanoparticles carrying hypoxia-regulated VEGF for cardiac repair, improving heart function. Gene therapy brings benefits and making treatment more effective and safe for diseases.
This document discusses Leber's Hereditary Optic Neuropathy-Multiple Sclerosis (LHON-MS), a rare condition where patients present with features of both LHON and MS. Key points: LHON-MS occurs more frequently than expected by chance and has overlaps in clinical and molecular features between the two diseases. Patients are often young women who have the m.11778G>A mutation and experience multiple visual events leading to unilateral vision loss. While diagnosis involves clinical evaluation, MRI imaging and oligoclonal bands, there are no clear treatment guidelines. Treatment is usually decided on a case-by-case basis and may involve idebenone for LHON, immunomodulators for MS, or
Pragmatic Realities on Brain Imaging Techniques and Image Fusion for Alzheime...DR.P.S.JAGADEESH KUMAR
This document discusses various brain imaging techniques for diagnosing Alzheimer's disease (AD), including their strengths and limitations. It provides background on AD, describing its stages and types. Several techniques are evaluated: computed tomography can detect cerebral atrophy but provides limited information; positron emission tomography reveals decreased brain glucose usage in AD patients; magnetic resonance imaging and diffusion tensor imaging allow for volumetric analysis of brain regions implicated early in AD like the hippocampus; molecular imaging techniques may detect AD biomarkers before structural/functional changes occur. The role of brain imaging in furthering understanding of AD progression and as a diagnostic/research tool is emphasized.
Retinoblastoma is a rare childhood cancer that develops from immature retinal cells. It is caused by mutations in the RB1 tumor suppressor gene. The presentation may include leukocoria, strabismus, or pain. Diagnosis is usually made through ophthalmic examination and imaging like ultrasound, CT, or MRI. Treatment is multidisciplinary and aims to cure the disease while preserving the eye and vision if possible. Modalities include enucleation, cryotherapy, laser therapy, brachytherapy, chemotherapy, and external beam radiotherapy. The prognosis is generally good if caught early, with a focus on a coordinated, individualized treatment approach for each case.
Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin's lymphoma confined to the brain and spinal cord. It represents around 1% of all brain tumors. The standard treatment is high-dose methotrexate-based chemotherapy with or without whole brain radiotherapy. While chemotherapy alone may avoid radiation-related neurotoxicity risks, the addition of radiotherapy may improve survival outcomes. Ongoing clinical trials are further evaluating the optimal treatment approaches for managing this aggressive cancer.
This document summarizes a presentation on the management of primary central nervous system lymphoma. It discusses the epidemiology, pathogenesis, clinical features, investigations including imaging and pathology, prognostic factors, treatment including chemotherapy protocols and radiation therapy techniques, and a review of literature on clinical trials. The review of literature summarizes 11 key studies comparing outcomes of different chemotherapy regimens, use of whole brain radiation therapy, and impact on survival and neurotoxicity.
Traumatic brain injury (TBI) can cause various cognitive, language, and speech impairments due to damage from the primary impact or secondary effects of the injury. Assessment of patients with TBI evaluates multiple domains including consciousness, cognition, attention, memory, language, and executive functions. Treatment involves both direct behavioral techniques and cognitive rehabilitation to address specific impairments in areas such as attention, memory, and executive functions. Common approaches include attention process training, memory notebooks, and strategies to improve metacognition and problem solving.
This document summarizes 22 PhD theses defended in 2011 at the Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of Macedonia. It provides English abstracts of the theses, including topics studied, methods, results, and conclusions. The theses covered areas like juvenile myoclonic epilepsy, treatment of lung cancer, dermatophytoses, and more. 9 theses lacked keywords and most (12) had structured abstracts. The editorial board did not verify the quality or content of the abstracts.
POCD is defined as impairment of cognitive function after surgery. It can occur in the immediate postoperative period as postoperative delirium or emerge later as delayed neurocognitive recovery or PONCD. The reported incidence ranges from 5-60% depending on the surgery and assessment time period. Risk factors include increasing age, pre-existing cognitive impairment, major surgery and cardiac surgery specifically. Prevention strategies involve a multidisciplinary approach with careful preoperative assessment, avoidance of delirogenic medications, monitoring anesthesia depth, early mobilization and multicomponent prevention programs. Treatment of established POCD focuses on managing symptoms though efficacy is limited.
Frontotemporal dementia (FTD) is an early-onset form of dementia characterized by progressive deterioration of behavior and language abilities due to degeneration of the frontal and temporal lobes. There are three main variants of FTD - behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA), and nonfluent/agrammatic variant PPA (nfvPPA). FTD is highly heritable and can be caused by mutations in MAPT, GRN, and C9orf72 genes. Diagnosis involves clinical evaluation, neuropsychological testing demonstrating executive dysfunction and relative sparing of memory, and neuroimaging showing frontal and temporal lobe atrophy.
Novel approach to diagnosis of mycobacterial and bacterialNeurologyKota
This document discusses the diagnosis of mycobacterial and bacterial infections of the central nervous system. It provides clinical features of tuberculous meningitis, patterns of tuberculosis in the CNS, and challenges in diagnosing tuberculous meningitis. Various diagnostic techniques and scoring systems are summarized, including the Thwaites diagnostic score, Lancet consensus score, and advances in molecular diagnosis using next generation sequencing, multiplex PCR panels, and nanotechnology-based approaches. Imaging characteristics of tuberculous granulomas on MRI are also outlined.
Among patients with relapsing-remitting multiple sclerosis (MS) who underwent nonmyeloablative hematopoietic stem cell transplantation (HSCT), the following results were observed:
1) Scores on the Expanded Disability Status Scale (EDSS) and Neurologic Rating Scale (NRS) improved significantly from pre-transplant levels at 2-year and 4-year follow-ups, indicating reduced neurological disability.
2) Fifty percent of patients showed at least a 1-point improvement on the EDSS at 2 years, increasing to 64% at 4 years.
3) Secondary outcomes including quality of life, walking ability, and lesion volume also significantly improved from pre-transplant
The document summarizes a journal club presentation on diffuse large B-cell lymphoma (DLBCL). It includes:
- Background on DLBCL, the most common subtype of non-Hodgkin lymphoma.
- A review of literature showing improved progression-free and overall survival when radiotherapy is added to chemotherapy for limited stage DLBCL.
- Details of a study presented, which found improved progression-free and overall survival with involved-lesion radiotherapy compared to no radiotherapy after R-CHOP chemotherapy for limited stage DLBCL.
Primary CNS Lymphoma: Focus on role of Radiationspa718
Dr. Rico Liu discusses the effects of radiation therapy and the role of new technologies in treating primary central nervous system lymphoma (PCNSL). Radiotherapy alone provides a median survival of 12 months for PCNSL patients, while chemotherapy followed by whole brain radiotherapy increases median survival to 48 months. The combination of chemotherapy and radiotherapy results in a 94% overall response rate for PCNSL patients, though 15% experience severe delayed neurotoxicity, especially elderly patients. New technologies and lower consolidation radiation doses may help reduce the risk of delayed neurotoxicity. Radiotherapy remains effective for patients unable to receive chemotherapy.
This document discusses primary central nervous system lymphoma (PCNSL) through several sections. It begins with an introduction that defines PCNSL and classifications. It then covers the pathology of PCNSL through sections on cell origin and pathogenesis, epidemiology, macroscopic and microscopic features, immunohistochemistry, genetics, radiology, growth patterns and spread, grading/behavior, and prognosis. Further sections discuss the presentation, differential diagnosis, investigations, and management protocol for patients with PCNSL.
Management strategies in multiple sclerosisAmr Hassan
This document discusses key decision making points in the treatment of multiple sclerosis (MS). It begins with an overview of the diagnostic criteria for MS and algorithms for clinical follow up of patients with a first attack or those at risk of converting to clinically definite MS. It then covers factors to consider when choosing a first-line disease modifying therapy, including adherence, patient preferences, prognostic factors, disease activity, comorbidities, safety, tolerability, efficacy, and pregnancy plans. Specific MS comorbidities and pregnancy categories for various therapies are also summarized. The document concludes with discussions on definitions of suboptimal response, treatment algorithms, escalation versus induction strategies, and considerations for discontinuing disease modifying therapies.
Primary CNS lymphoma (PCNSL) is a rare form of non-Hodgkin's lymphoma confined to the brain and spinal cord. It most commonly affects immunocompetent elderly patients and presents with neurological symptoms. Diagnosis requires biopsy and imaging shows contrast-enhancing lesions. Standard treatment is high-dose methotrexate-based chemotherapy with consolidation radiotherapy, though radiotherapy is being used less due to neurotoxicity risks, especially in older patients. The prognosis remains poor with median survival around 2 years despite treatment.
This document discusses highly active multiple sclerosis (MS). It defines several subtypes of aggressive MS including malignant, fulminant, and highly active MS. Predictors of highly active MS are discussed from a 2016 study. The case vignette describes a 34-year-old male physician's MS course from 2006 to 2017, showing recurrent attacks and progression. The timing of therapy is key to preventing disability, with an emphasis on early treatment to preserve brain reserve. Treatment algorithms recommend escalating therapy for aggressive MS to effectively treat within a narrow therapeutic window.
Gene therapy involves introducing a biologically active gene into a cell to achieve a therapeutic benefit and can be done in two ways. Vectors like retroviruses and adeno-associated viruses are used to deliver the therapeutic gene to target cells like stem cells and progenitor cells. RNA interference is a type of gene modulation being used to treat genetic diseases like Huntington's disease by decreasing production of faulty proteins. Exon skipping induced by antisense oligonucleotides is also being researched for Duchenne muscular dystrophy treatment and could lead to a functional dystrophin protein. Genome editing techniques like CRISPR/Cas9 allow permanent changes to DNA and are being explored for curing diseases like HIV.
Glucocorticoids reduce the number of astrocytes both in vitro and in vivo by decreasing glucocorticoid receptor expression. Studies found that repeated administration of adrenocorticotropic hormone in rats decreased glucocorticoid receptor levels in the frontal cortex and hippocampus along with reducing the number of astrocytes stained with GFAP. In vitro, treatment of astrocyte cultures with corticosterone or dexamethasone reduced astrocyte numbers by inhibiting proliferation, and this effect was mediated through reducing glucocorticoid receptor expression as shown by experiments using small interfering RNA against the receptor.
Menkes Disease A Differential Diagnosis To Child Abusealisonegypt
1) A 9-month-old male infant presented with repetitive seizures, poor muscle tone, and an enlarged head circumference. Imaging showed a subdural hematoma, initially leading to a diagnosis of shaken baby syndrome.
2) Further examination found pale skin, sparse hair with a pili torti pattern, low copper and ceruloplasmin levels, confirming a diagnosis of Menkes disease.
3) Menkes disease can mimic signs of abuse like subdural hematomas due to brain atrophy and fragile blood vessels. This case highlights the importance of considering alternative diagnoses to avoid misdiagnosing child abuse.
Objective: To describe cognitive disorders in patients with epilepsy attending neurology consultations in the city of Ouagadougou. Methodology: This was a prospective cross-sectional multicenter study carried on patients with epilepsy during the period from 1erJanuary 2018 to 30 April 2019. All the patients were screened using mini-mental state examination (MMSE). Results: The study included 102 patients with a mean age of 33.28 ± 15.55 years. The sample was consisted of 54 (52.9%) men and 48 (47.1%) women. The majority of patients had secondary level (55.7 %). Generalized seizures were more common (74.5%). The most common causes of epilepsy was head trauma (24.5%). A great number of patients were treated by phenobarbital (49%). The overall mean MMSE score was 25.65 ± 5.07. The frequency of cognitive disorders was 61.8%, including cognitive impairment (25.5%), mild dementia (25.5%), moderate dementia (7.8%) and severe dementia (3%). The domains most affected were calculation and attention
deficit (48%) followed by memory disorders (27.5%) and copying (12.8%). Head trauma and phenobarbital were signifi cantly associated to cognitive. Cognitive disorders were less frequent in young adult aged of 26-35 years.
This study examined whether the presence of cognitive impairment identifies distinct subgroups in patients with ALS. The study longitudinally assessed 192 ALS patients and healthy controls using neuropsychological tests over 6-month intervals. The results showed that (1) patients with executive impairment at baseline had reduced survival and some developed dementia, (2) most with normal cognition at baseline remained so, and (3) all new executive impairment was preceded by subtle changes. The study concludes distinct cognitive subgroups exist in ALS and cognition is a useful clinical biomarker.
Guillain-Barré syndrome (GBS) is an acute inflammatory disease of the peripheral nervous system that is the most common cause of acute flaccid paralysis. It is characterized by weakness and sensory signs that start in the legs and ascend to the arms and face. The pathogenesis involves an autoimmune response triggered by infection where antibodies cross-react with nerve membranes. Treatment with intravenous immunoglobulin or plasma exchange is most effective if started within 2-4 weeks of symptom onset. While most patients improve with treatment, around 20% have long-term sequelae requiring rehabilitation.
Pragmatic Realities on Brain Imaging Techniques and Image Fusion for Alzheime...DR.P.S.JAGADEESH KUMAR
This document discusses various brain imaging techniques for diagnosing Alzheimer's disease (AD), including their strengths and limitations. It provides background on AD, describing its stages and types. Several techniques are evaluated: computed tomography can detect cerebral atrophy but provides limited information; positron emission tomography reveals decreased brain glucose usage in AD patients; magnetic resonance imaging and diffusion tensor imaging allow for volumetric analysis of brain regions implicated early in AD like the hippocampus; molecular imaging techniques may detect AD biomarkers before structural/functional changes occur. The role of brain imaging in furthering understanding of AD progression and as a diagnostic/research tool is emphasized.
Retinoblastoma is a rare childhood cancer that develops from immature retinal cells. It is caused by mutations in the RB1 tumor suppressor gene. The presentation may include leukocoria, strabismus, or pain. Diagnosis is usually made through ophthalmic examination and imaging like ultrasound, CT, or MRI. Treatment is multidisciplinary and aims to cure the disease while preserving the eye and vision if possible. Modalities include enucleation, cryotherapy, laser therapy, brachytherapy, chemotherapy, and external beam radiotherapy. The prognosis is generally good if caught early, with a focus on a coordinated, individualized treatment approach for each case.
Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin's lymphoma confined to the brain and spinal cord. It represents around 1% of all brain tumors. The standard treatment is high-dose methotrexate-based chemotherapy with or without whole brain radiotherapy. While chemotherapy alone may avoid radiation-related neurotoxicity risks, the addition of radiotherapy may improve survival outcomes. Ongoing clinical trials are further evaluating the optimal treatment approaches for managing this aggressive cancer.
This document summarizes a presentation on the management of primary central nervous system lymphoma. It discusses the epidemiology, pathogenesis, clinical features, investigations including imaging and pathology, prognostic factors, treatment including chemotherapy protocols and radiation therapy techniques, and a review of literature on clinical trials. The review of literature summarizes 11 key studies comparing outcomes of different chemotherapy regimens, use of whole brain radiation therapy, and impact on survival and neurotoxicity.
Traumatic brain injury (TBI) can cause various cognitive, language, and speech impairments due to damage from the primary impact or secondary effects of the injury. Assessment of patients with TBI evaluates multiple domains including consciousness, cognition, attention, memory, language, and executive functions. Treatment involves both direct behavioral techniques and cognitive rehabilitation to address specific impairments in areas such as attention, memory, and executive functions. Common approaches include attention process training, memory notebooks, and strategies to improve metacognition and problem solving.
This document summarizes 22 PhD theses defended in 2011 at the Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, Republic of Macedonia. It provides English abstracts of the theses, including topics studied, methods, results, and conclusions. The theses covered areas like juvenile myoclonic epilepsy, treatment of lung cancer, dermatophytoses, and more. 9 theses lacked keywords and most (12) had structured abstracts. The editorial board did not verify the quality or content of the abstracts.
POCD is defined as impairment of cognitive function after surgery. It can occur in the immediate postoperative period as postoperative delirium or emerge later as delayed neurocognitive recovery or PONCD. The reported incidence ranges from 5-60% depending on the surgery and assessment time period. Risk factors include increasing age, pre-existing cognitive impairment, major surgery and cardiac surgery specifically. Prevention strategies involve a multidisciplinary approach with careful preoperative assessment, avoidance of delirogenic medications, monitoring anesthesia depth, early mobilization and multicomponent prevention programs. Treatment of established POCD focuses on managing symptoms though efficacy is limited.
Frontotemporal dementia (FTD) is an early-onset form of dementia characterized by progressive deterioration of behavior and language abilities due to degeneration of the frontal and temporal lobes. There are three main variants of FTD - behavioral variant FTD (bvFTD), semantic variant primary progressive aphasia (svPPA), and nonfluent/agrammatic variant PPA (nfvPPA). FTD is highly heritable and can be caused by mutations in MAPT, GRN, and C9orf72 genes. Diagnosis involves clinical evaluation, neuropsychological testing demonstrating executive dysfunction and relative sparing of memory, and neuroimaging showing frontal and temporal lobe atrophy.
Novel approach to diagnosis of mycobacterial and bacterialNeurologyKota
This document discusses the diagnosis of mycobacterial and bacterial infections of the central nervous system. It provides clinical features of tuberculous meningitis, patterns of tuberculosis in the CNS, and challenges in diagnosing tuberculous meningitis. Various diagnostic techniques and scoring systems are summarized, including the Thwaites diagnostic score, Lancet consensus score, and advances in molecular diagnosis using next generation sequencing, multiplex PCR panels, and nanotechnology-based approaches. Imaging characteristics of tuberculous granulomas on MRI are also outlined.
Among patients with relapsing-remitting multiple sclerosis (MS) who underwent nonmyeloablative hematopoietic stem cell transplantation (HSCT), the following results were observed:
1) Scores on the Expanded Disability Status Scale (EDSS) and Neurologic Rating Scale (NRS) improved significantly from pre-transplant levels at 2-year and 4-year follow-ups, indicating reduced neurological disability.
2) Fifty percent of patients showed at least a 1-point improvement on the EDSS at 2 years, increasing to 64% at 4 years.
3) Secondary outcomes including quality of life, walking ability, and lesion volume also significantly improved from pre-transplant
The document summarizes a journal club presentation on diffuse large B-cell lymphoma (DLBCL). It includes:
- Background on DLBCL, the most common subtype of non-Hodgkin lymphoma.
- A review of literature showing improved progression-free and overall survival when radiotherapy is added to chemotherapy for limited stage DLBCL.
- Details of a study presented, which found improved progression-free and overall survival with involved-lesion radiotherapy compared to no radiotherapy after R-CHOP chemotherapy for limited stage DLBCL.
Primary CNS Lymphoma: Focus on role of Radiationspa718
Dr. Rico Liu discusses the effects of radiation therapy and the role of new technologies in treating primary central nervous system lymphoma (PCNSL). Radiotherapy alone provides a median survival of 12 months for PCNSL patients, while chemotherapy followed by whole brain radiotherapy increases median survival to 48 months. The combination of chemotherapy and radiotherapy results in a 94% overall response rate for PCNSL patients, though 15% experience severe delayed neurotoxicity, especially elderly patients. New technologies and lower consolidation radiation doses may help reduce the risk of delayed neurotoxicity. Radiotherapy remains effective for patients unable to receive chemotherapy.
This document discusses primary central nervous system lymphoma (PCNSL) through several sections. It begins with an introduction that defines PCNSL and classifications. It then covers the pathology of PCNSL through sections on cell origin and pathogenesis, epidemiology, macroscopic and microscopic features, immunohistochemistry, genetics, radiology, growth patterns and spread, grading/behavior, and prognosis. Further sections discuss the presentation, differential diagnosis, investigations, and management protocol for patients with PCNSL.
Management strategies in multiple sclerosisAmr Hassan
This document discusses key decision making points in the treatment of multiple sclerosis (MS). It begins with an overview of the diagnostic criteria for MS and algorithms for clinical follow up of patients with a first attack or those at risk of converting to clinically definite MS. It then covers factors to consider when choosing a first-line disease modifying therapy, including adherence, patient preferences, prognostic factors, disease activity, comorbidities, safety, tolerability, efficacy, and pregnancy plans. Specific MS comorbidities and pregnancy categories for various therapies are also summarized. The document concludes with discussions on definitions of suboptimal response, treatment algorithms, escalation versus induction strategies, and considerations for discontinuing disease modifying therapies.
Primary CNS lymphoma (PCNSL) is a rare form of non-Hodgkin's lymphoma confined to the brain and spinal cord. It most commonly affects immunocompetent elderly patients and presents with neurological symptoms. Diagnosis requires biopsy and imaging shows contrast-enhancing lesions. Standard treatment is high-dose methotrexate-based chemotherapy with consolidation radiotherapy, though radiotherapy is being used less due to neurotoxicity risks, especially in older patients. The prognosis remains poor with median survival around 2 years despite treatment.
This document discusses highly active multiple sclerosis (MS). It defines several subtypes of aggressive MS including malignant, fulminant, and highly active MS. Predictors of highly active MS are discussed from a 2016 study. The case vignette describes a 34-year-old male physician's MS course from 2006 to 2017, showing recurrent attacks and progression. The timing of therapy is key to preventing disability, with an emphasis on early treatment to preserve brain reserve. Treatment algorithms recommend escalating therapy for aggressive MS to effectively treat within a narrow therapeutic window.
Gene therapy involves introducing a biologically active gene into a cell to achieve a therapeutic benefit and can be done in two ways. Vectors like retroviruses and adeno-associated viruses are used to deliver the therapeutic gene to target cells like stem cells and progenitor cells. RNA interference is a type of gene modulation being used to treat genetic diseases like Huntington's disease by decreasing production of faulty proteins. Exon skipping induced by antisense oligonucleotides is also being researched for Duchenne muscular dystrophy treatment and could lead to a functional dystrophin protein. Genome editing techniques like CRISPR/Cas9 allow permanent changes to DNA and are being explored for curing diseases like HIV.
Glucocorticoids reduce the number of astrocytes both in vitro and in vivo by decreasing glucocorticoid receptor expression. Studies found that repeated administration of adrenocorticotropic hormone in rats decreased glucocorticoid receptor levels in the frontal cortex and hippocampus along with reducing the number of astrocytes stained with GFAP. In vitro, treatment of astrocyte cultures with corticosterone or dexamethasone reduced astrocyte numbers by inhibiting proliferation, and this effect was mediated through reducing glucocorticoid receptor expression as shown by experiments using small interfering RNA against the receptor.
Menkes Disease A Differential Diagnosis To Child Abusealisonegypt
1) A 9-month-old male infant presented with repetitive seizures, poor muscle tone, and an enlarged head circumference. Imaging showed a subdural hematoma, initially leading to a diagnosis of shaken baby syndrome.
2) Further examination found pale skin, sparse hair with a pili torti pattern, low copper and ceruloplasmin levels, confirming a diagnosis of Menkes disease.
3) Menkes disease can mimic signs of abuse like subdural hematomas due to brain atrophy and fragile blood vessels. This case highlights the importance of considering alternative diagnoses to avoid misdiagnosing child abuse.
Menkes Disease A Differential Diagnosis To Child Abuse
Similar to Caratteristiche cliniche e di laboratorio e risposta al trattamento in pazienti con sindromi neurologiche correlate a deficit di vitamina B12
Objective: To describe cognitive disorders in patients with epilepsy attending neurology consultations in the city of Ouagadougou. Methodology: This was a prospective cross-sectional multicenter study carried on patients with epilepsy during the period from 1erJanuary 2018 to 30 April 2019. All the patients were screened using mini-mental state examination (MMSE). Results: The study included 102 patients with a mean age of 33.28 ± 15.55 years. The sample was consisted of 54 (52.9%) men and 48 (47.1%) women. The majority of patients had secondary level (55.7 %). Generalized seizures were more common (74.5%). The most common causes of epilepsy was head trauma (24.5%). A great number of patients were treated by phenobarbital (49%). The overall mean MMSE score was 25.65 ± 5.07. The frequency of cognitive disorders was 61.8%, including cognitive impairment (25.5%), mild dementia (25.5%), moderate dementia (7.8%) and severe dementia (3%). The domains most affected were calculation and attention
deficit (48%) followed by memory disorders (27.5%) and copying (12.8%). Head trauma and phenobarbital were signifi cantly associated to cognitive. Cognitive disorders were less frequent in young adult aged of 26-35 years.
This study examined whether the presence of cognitive impairment identifies distinct subgroups in patients with ALS. The study longitudinally assessed 192 ALS patients and healthy controls using neuropsychological tests over 6-month intervals. The results showed that (1) patients with executive impairment at baseline had reduced survival and some developed dementia, (2) most with normal cognition at baseline remained so, and (3) all new executive impairment was preceded by subtle changes. The study concludes distinct cognitive subgroups exist in ALS and cognition is a useful clinical biomarker.
Guillain-Barré syndrome (GBS) is an acute inflammatory disease of the peripheral nervous system that is the most common cause of acute flaccid paralysis. It is characterized by weakness and sensory signs that start in the legs and ascend to the arms and face. The pathogenesis involves an autoimmune response triggered by infection where antibodies cross-react with nerve membranes. Treatment with intravenous immunoglobulin or plasma exchange is most effective if started within 2-4 weeks of symptom onset. While most patients improve with treatment, around 20% have long-term sequelae requiring rehabilitation.
This document summarizes a study characterizing patients with mild cognitive impairment (MCI) both cross-sectionally and longitudinally. The study found that:
1) Patients with MCI performed similarly to healthy controls on tests of general cognition but scored significantly worse than controls on memory tests, though they performed better than patients with very mild Alzheimer's disease.
2) Over about 4 years of follow-up, 12% of patients with MCI converted to dementia per year, compared to a 1-2% conversion rate in healthy controls.
3) Patients with MCI declined more slowly on cognitive tests than patients with Alzheimer's disease but faster than healthy controls.
Utilità della misurazione dei livelli di vitamina B12 e della sua frazione at...MerqurioEditore_redazione
This study evaluated vitamin B12 (VitB12) and its active fraction, holotranscobalamin (holoTC), for detecting VitB12 deficiency in 1,279 patients with neurological conditions. Elevated methylmalonic acid (MMA) levels were used as the criterion for VitB12 deficiency. Among patients with normal renal function, 13.2% had VitB12 deficiency based on MMA levels. However, VitB12 and holoTC levels showed poor correlation with VitB12 deficiency. Neither VitB12 nor holoTC demonstrated superior diagnostic accuracy for detecting VitB12 deficiency compared to the other. The study concludes that neither VitB12 nor holoTC can be reliably used
20150918 C.Izzi - 22q11.2 Microdeletion Syndrome: Understanding the Emerging...Roberto Scarafia
22q11.2 Microdeletion Syndrome:
Understanding the Emerging
Importance of this Syndrome
Dr.ssa Claudia Izzi
Centro di Diagnosi Prenatale
Dipartimento Ostetrico-Ginecologico
Azienda Spedali Civili di Brescia
Neurodevelopment after perinatal arterial ischemic stroke (PAIS)Saber Jan
1) Involvement of the corticospinal tracts and basal ganglia, as seen in main branch middle cerebral artery strokes, were the strongest predictors of adverse neurodevelopmental outcomes like cerebral palsy following perinatal arterial ischemic stroke.
2) Perinatal arterial ischemic stroke led to cerebral palsy in approximately 30% of affected children and other neurologic sequelae like cognitive deficits in around 25% of children.
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Caratteristiche cliniche e di laboratorio e risposta al trattamento in pazienti con sindromi neurologiche correlate a deficit di vitamina B12
1. Original Article
Clinical and laboratory features and response to treatment in
patients presenting with vitamin B12 deficiency-related
neurological syndromes
S. Aaron, S. Kumar, J. Vijayan, J. Jacob, M. Alexander, C. Gnanamuthu
Neurology Unit, Department of Neurological Sciences, Christian Medical College, Vellore, Tamil Nadu, India
Aims and objectives: To study the clinical and laboratory cal manifestations and affects all age groups.[1] Early recog-
features of patients admitted with vitamin B12 deficiency-re- nition of this condition is essential, as it is reversible and pre-
lated (B12def) neurological syndromes. Settings and Design: ventable.[2] However, a significant diagnostic delay still oc-
A hospital-based retrospective and prospective study con- curs in many cases. Though there is much debate regarding
ducted at a referral teaching hospital. Materials and Meth- the appropriate method of diagnosing vitamin B12def, the di-
ods: Consecutive patients admitted with vitamin B12 defi- agnosis is often made on the basis of a low serum vitamin B12
ciency-related neurological disorders during a three-year pe- level or megaloblastic bone marrow or both.[2,3] There are con-
riod from June 2000 to May 2003 were included. Data re- flicting data regarding the recovery of patients with B12def
garding clinical and laboratory features were obtained. Fol- presenting with neurological involvement.[4] This study was
low-up was done at least six months following treatment with aimed at determining the common clinical presentations and
parenteral vitamin B12. Chi-square test was used for statisti- outcome with treatment of patients admitted with B12def.
cal analysis. Results: A total of 63 patients (52 males) with a
mean age of 46.2 years were studied. The mean duration of Materials and Methods
symptoms at presentation was 10.3 months. Myeloneuropathy
(54%) was the commonest neurological manifestation, fol- This study was conducted in the Department of Neurological Sci-
lowed by myeloneuropathy with cognitive dysfunction (34%), ences of a tertiary care teaching hospital. Retrospective and pro-
and peripheral neuropathy (9%). Neuropsychiatric manifes- spective descriptive study was carried out over a period of three years
tations and dementia were observed in 38% and 19% of pa- from June 2000 to May 2003 on consecutive patients admitted with
tients respectively. All the patients had megaloblastic changes a diagnosis of B12def-related neurological syndromes. Data were col-
in the bone marrow smear. Eleven (17.5%) patients had both lected regarding the demographic, clinical and laboratory features.
hemoglobin and the mean corpuscular volume (MCV) within All the patients underwent detailed general and neurological exami-
the normal range. Follow-up after at least six months of therapy nation to identify the clinical syndromes. Patients were screened for
with parenteral B12 showed improvement in 54% patients. dementia by mini-mental status examination (MMSE). The diagno-
sis of dementia was established on the basis of DSM-IV criteria. In
Conclusions: A high index of suspicion of B12def is required
addition, patients suspected to have cognitive impairment under-
in patients presenting with myelopathy, cognitive decline, or
went a detailed assessment of various cognitive domains as per the
neuropathy. A normal hemoglobin or MCV does not exclude neuropsychological proforma formulated at our department.[5] Other
B12def; therefore, other tests such as bone marrow smear primary degenerative dementias were excluded as per established
and serum vitamin B12 assay are essential, as the condition is diagnostic criteria. The diagnosis of B12def was made on the basis of
often reversible with treatment. low serum vitamin B12 levels (<200 pg/ml) assessed by radioimmu-
noassay or presence of megaloblastic changes in the bone marrow
Key Words: Bone marrow smear, Vitamin B12 deficiency,
smear or both.[2,3] Appropriate electrophysiological and neuroimaging
Myeloneuropathy
studies were also performed.
Patients were treated with intramuscular B12 injections (cyanoco-
balamin form, Neurobion forte, Merck India) at a dose of 1000
Introduction micrograms per day for seven days and then once a week for one
month and thereafter once a month long-term. They were followed
Vitamin B12 deficiency (B12def) leads to myriad neurologi- up for a minimum of six months and the response to therapy was
Sudhir Kumar
Department of Neurological Sciences, Christian Medical College, Vellore - 632004, Tamilnadu, India. E-mail: drsudhirkumar@yahoo.com
Neurology India March 2005 Vol 53 Issue 1 55
2. Aaron S, et al: Neurological disease due to vitamin B12 deficiency
noted. Assessment included a detailed general and neurological ex- with duration of symptoms, severity of the megaloblastic
amination. In addition, laboratory parameters, neuroimaging and change in the bone marrow smear, or the mean corpuscular
electrophysiological studies were repeated as per the clinical presen- volume (MCV).
tation. Functional status was assessed as per Barthel’s index.
Myeloneuropathy was the commonest clinical finding in 34
Pearson’s Chi-square test was used for statistical analysis.
(54%) patients. A combination of myeloneuropathy with cog-
nitive impairment was seen in 21 (34%) patients. Six (9%)
Results
patients had peripheral neuropathy alone.
Cognitive dysfunction as the only manifestation of B12def
Demographic Data
was noted in two (3%) patients. Neuropsychiatric manifesta-
A total of 63 patients (52 males) with a mean age of 46.2
tions were noted in 24 (38%) patients and included dementia
years were studied. Majority (31, 49%) belonged to the age
in 19%, depressive features in 11% and psychosis in 4%. The
group of 31 to 50 years.
mean MMSE score in patients with dementia was 15.5 + 7.5.
The mean duration of symptoms at presentation was 10.3
All patients with dementia had memory impairment. Language
months (range 2-28 months).
impairment was the next most common finding, affecting 77%
The majority of patients belonged to a higher socioeconomic
of patients. Attention and concentration were unaffected in
background (based on occupation, family assets and monthly
all the patients. Disorientation to space and person was seen
income). Professionals and skilled workers constituted 70%
in 55% of patients. Poor judgment and visuospatial disorien-
of the patient population.
tation were seen in 43% and 37% of patients respectively. All
patients had features of temporal lobe dysfunction, whereas
Risk factors
only 75% of patients with dementia had features of frontal
Predisposing factors were found in only 14 (22%) patients.
and/or parietal lobe dysfunction. The occurrence of dementia
History of alcohol abuse (10 patients) and chronic diarrhea
in patients with B12def did not correlate with duration of symp-
(6 patients) were the common underlying factors noted. Mal-
toms, or the severity of megaloblastic changes in the bone
absorption work-up was positive in four patients. The major-
marrow smear.
ity were vegetarians (60%). One patient had an ileal resec-
tion.
Laboratory features
All the patients had megaloblastic changes in the bone mar-
Clinical features
row smear. Mild changes were noted in 56% while moderate
The common systemic features were fatigue (34%), glossi-
and severe changes were noted in 22% each (Table 2).
tis (31%), weight loss (27%) and anorexia (22%) (Table 1).
Hypersegmented neutrophils in the peripheral blood were seen
It was noted that those with fatigue had a lower hemoglobin
in only 10 patients (16%). The mean hemoglobin was 11.3
level (mean 10.6 gm%, SD + 2.58) when compared to those
Gm %, MCV 103.1 Fl and the serum LDH 871 U/L respec-
without fatigue (mean 12.4 gm%, SD + 2.20), which was
tively. Eleven patients (17.5%) had both their hemoglobin and
statistically significant (P=0.005).
the MCV within the normal range (Hb >12 Gm% and the
Skin and mucosal changes were seen in 26 patients, 47% of
MCV < 98 Fl). Clinical syndromes in them included
them (19% of total) had cutaneous hyperpigmentation. Other
findings included hair changes (9%), angular stomatitis (8%)
Table 2: Laboratory abnormalities in patients with vitamin B12
and vitiligo (3%). Even though hyperpigmentation was an deficiency in our study
important general examination finding, it did not correlate Number Percentage
(n=63)
Table 1: Clinical presentation of patients with vitamin B12 Anemia (Hb<12 g%) 52 83
deficiency in our study Macrocytosis (MCV> 98 fl) 52 83
Hypersegmented neutrophils 10 16
Number Percentage
Low reticulocyte count 45 71
(n=63)
Elevated serum LDH (>460 U/L) 49 78
Myeloneuropathy 34 54
Indirect hyperbilirubinemia 38 60
Myeloneuropathy with cognitive impairment 21 34
Low serum vitamin B12 level (<200 pg/ml)# 35 90
Cognitive impairment alone 2 3
Megaloblastic changes on bone marrow smear 63 100
Peripheral neuropathy alone 6 9
Mild changes 35 56
Neuropsychiatric manifestations 24 38
Moderate changes 14 22
Dementia 12 19
Severe changes 14 22
Depression 7 11
Anti-intrinsic factor antibody positive* 19 76
Psychosis 5 8
Anti-parietal cell antibody positive* 17 68
Skin and mucosal changes 26 41
Atrophic gastritis** 14 67
Skin hyperpigmentation 12 19
Hair changes 6 9 (Hb= hemoglobin; MCV= Mean corpuscular volume; LDH= Lactate dehydro-
genase); #: Serum B12 level was tested in only 39 patients; *: Anti-intrinsic
Angular stomatitis 5 8
factor and anti-parietal cell antibodies were tested in 25 patients; **: Upper
Vitiligo 2 3 gastrointestinal endoscopy and biopsy were done in 21 patients.
56 Neurology India March 2005 Vol 53 Issue 1
3. Aaron S, et al: Neurological disease due to vitamin B12 deficiency
myeloneuropathy in seven, peripheral neuropathy in three and -24.8 to -8.3) after the treatment. The response to the treat-
dementia in one. ment was not affected by the severity of the megaloblastic
The serum B12 levels were low (normal 200-950 pg/ml) in changes in the bone marrow or the duration of the neurologi-
35 patients (tested in 39 patients). Serum folate level was cal symptoms.
within the normal range (3-17 ng/ml).
Serum homocysteine was elevated in 13 patients (tested in Discussion
14). Anti-intrinsic factor antibody was positive in 19 (76%)
and anti-parietal cell antibody was positive in 17 (68%) out Even though the human body has enough vitamin B12 stores
of 25 patients, in whom they were tested. Upper to last for up to five years, its deficiency is not uncommon.
gastrointestinal endoscopy was performed in 21 patients and The main systems affected due to B12def are the hematological,
showed features of atrophic gastritis in 14 (66%). Malabsorp- skin and mucous membranes, and the nervous system.[6] Neu-
tion work-up was positive in four patients. rological features are attributable to pathology in the periph-
eral nerves, optic nerves, posterior and lateral columns of the
Neuroimaging and Electrophysiological Findings spinal cord and brain. B12def is a classic neurological ‘system-
The neuroimaging findings are summarized in Table 3. Find- specific degeneration’ in which particular sets of neurons are
ings of the nerve conduction studies are summarized in Table affected because of their selective vulnerability. An increased
4. Visual evoked potentials showed features of optic nerve prevalence of B12def has been reported in patients infected
dysfunction in 16 (out of 29) patients. Brainstem auditory with the human immunodeficiency virus (HIV).[7] However,
evoked responses were abnormal in 3 (out of 21). Somatosen- none of our patients had HIV infection. B12def causes a wide
sory evoked responses (tested in 23 patients) showed features spectrum of neurological manifestations ranging from neural
of cervical cord dysfunction in 14 and dorsal cord dysfunction tube defects[8] to changes in cognition and behavior.[9] Many
in 17 patients. unusual manifestations have been reported in infants[10] and
adults including movement disorders[11] and seizures.[12]
Follow-up The diagnosis in our cases was based on either a megalob-
Follow-up after a mean duration of 13.4 months (range 6- lastic bone marrow or low serum vitamin B12 level or both. A
34 months) after starting therapy with parenteral B12 showed megaloblastic bone marrow was taken as a definitive evidence
improvement in 33 (54%) patients. There was no significant of B12def because: (i) some patients may have received B12
change in nine (14%) and 21 (32%) were lost to follow-up. supplements prior to their referral to us which can influence
Thus, in effect, 79% (33/42) of the patients who could be the serum B12 levels; (ii) in a vitamin B12-deficient state, the
evaluated after six months had shown improvement. Cogni- levels first fall in the neuronal tissues and only much later is
tive functions showed a significant improvement. Mean MMSE it reflected in the serum vitamin B12 levels. Therefore, a diag-
scores improved by 2.4 to a level of 17.9 + 6.4 (P<0.01; 95% nosis of B12def might be missed if we solely rely on the serum
Confidence Interval (CI): -3.9 to -1.6). Functional status had levels; (iii) the presence of megaloblasts in the bone marrow is
markedly improved in them. The ‘activities of daily living score’ virtually diagnostic of vitamin B12 or folate deficiency. How-
in the Barthel index significantly increased from a pretreat- ever, a serum vitamin B12 assay is mandatory in all cases of
ment level of 62.6 + 33.2 to 75.7 + 18.4 (P<0.01; 95% CI: suspected B12def.
A referral bias probably may be the reason behind the higher
Table 3: Summary of the neuroimaging findings in patients proportion of inclusion of males (83%), and those from a higher
included in this study socioeconomic background (70%) in this study. However, it
Findings CT Brain MRI Brain MRI Spine could also be due to the fact that the etiology of B12 deficiency
(n=9)* (n=14)* (n=39) seems to be immune-mediated in a significant number of pa-
Normal 6 5 17
Atrophy 3 6 3 tients and an autoimmune process could affect more affluent
White matter lesions 1 3 19 people as well. Vegetarians constituted 60% of the study popu-
Lacunar infarcts 1 2 0 lation. Earlier Indian studies have also highlighted this.[13,14]
(CT= Computerized tomography; MRI= Magnetic Resonance Imaging); *Some This finding confirms that vegetarians are at a higher risk of
patients had more than one imaging abnormality.
developing B12def, which is probably corroborated by the find-
ing that vegetarians had a statistically more severe form of
Table 4: Summary of the nerve conduction studies of patients megaloblastic changes in the bone marrow as compared to the
included in our study* non-vegetarians.
Normal 5 Even though the classical syndrome of B12def is termed ‘su-
Axonal sensori-motor neuropathy 34
Demyelinating sensori-motor neuropathy 1 bacute’ combined degeneration of the cord, a wide variation is
Mixed (axonal and demyelinating) sensori-motor neuropathy 9 noted in the duration of symptoms at the time of presentation
*Nerve conduction studies were performed on 49 patients. (2 months-28 months). The deficiency can also occur acutely
Neurology India March 2005 Vol 53 Issue 1 57
4. Aaron S, et al: Neurological disease due to vitamin B12 deficiency
following exposure to nitrous oxide.[15,16] thy. This could be a limitation to generalizing the results of
Fatigue was the commonest symptom in this series. B12def this study.
has been implicated in conditions where fatigue is a promi- A high index of suspicion of B12def is needed in patients
nent symptom such as chronic fatigue syndrome.[17] In this presenting with myelopathy, cognitive decline, or neuropathy,
study, fatigue was associated with a low hemoglobin level. especially among the pure vegetarians and the elderly. Skin
Hyperpigmentation over the extremities, especially over the changes might be an important clue towards the diagnosis.
dorsum of the hands and feet with accentuation over the ter- The duration of symptoms is highly variable. A normal
minal phalanges and inter-phalangeal joints, associated with hemoglobin and MCV, and even a normal serum B12 level does
pigmentation of the oral mucosa is characteristic of B12def. not rule out B12def; hence other tests like bone marrow smear
These findings resolve with therapy.[18] might be useful in diagnosing this condition, as it is reversible
Myeloneuropathy was the commonest neurological manifes- in a majority.
tation in this study. In another similar study from the West,
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varied neurological syndromes including peripheral neuropa- Accepted on 09.11.2004.
58 Neurology India March 2005 Vol 53 Issue 1