This document discusses postoperative cerebral venous infarction (POCVI) based on a prospective study conducted at AIIMS, New Delhi between January-August 2006. The study aimed to determine the incidence and clinical-radiological course of POCVI. Of the 376 patients studied, 26 (7%) developed POCVI, with most occurring within 72 hours of surgery. The majority of cases were hemorrhagic infarcts. Most patients who developed POCVI had undergone surgery for intracranial tumors. The incidence and outcomes of POCVI found in this study are comparable to previous literature on this neurosurgical complication.
This document discusses neuronal migration disorders. It begins by introducing neuronal migration as a key feature of nervous system development. It then describes the three stages of neuronal migration and genes involved. Several specific neuronal migration disorders are defined and described in detail, including lissencephaly, schizencephaly, heterotopias, polymicrogyrias, focal cortical dysplasias, and porencephaly. Key features such as imaging findings and clinical presentations are provided for each. The document emphasizes that defects in neuronal migration pathways can lead to developmental problems and neurological issues like seizures or motor impairments.
Eales' disease is an idiopathic inflammatory retinal condition that primarily affects veins in the retina. It is characterized by perivascular inflammation that can lead to retinal ischemia and neovascularization. The disease progresses through stages from inflammation to ischemia to proliferation of new blood vessels. Treatment involves corticosteroids to reduce inflammation, laser photocoagulation to ablate new vessels, and vitrectomy for complications like vitreous hemorrhage or retinal detachment. While the exact cause is unknown, hypersensitivity to tuberculosis has been proposed as a potential trigger in many cases.
Polypoidal choroidal vasculopathy (PCV) is a type of macular degeneration characterized by abnormal choroidal blood vessels that bulge outward forming polyp-like structures. It shares similarities with neovascular age-related macular degeneration but may have distinct pathogenesis involving disruption of choroidal vascular smooth muscle cells. PCV predominantly affects Asians and is a leading cause of vision loss in this population. Diagnosis is made using indocyanine green angiography which clearly visualizes the abnormal polypoidal choroidal vessels. Treatment options include laser photocoagulation, photodynamic therapy, anti-VEGF drugs, and combinations with the goal of resolving fluid, hemorrhage and regressing the poly
Periphlebitis Retinae, also known as Eale's Disease, is an idiopathic inflammatory condition of the peripheral retinal veins that presents with recurrent vitreous and retinal hemorrhages in young adult males, typically between ages 20-30. It is caused by inflammation of the retinal vein walls that is commonly associated with tuberculosis. Symptoms include sudden vision impairment due to vitreous hemorrhage. Signs include thickened, tortuous, and congested peripheral retinal veins and large vitreous hemorrhages. Treatment focuses on treating any underlying infections like tuberculosis, photocoagulation of leaking retinal areas, and vitrectomy for advanced cases with retinitis proliferans.
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
This document discusses imaging techniques used to identify and characterize the pachychoroid phenotype. Key features of the pachychoroid phenotype include choroidal vascular hyperpermeability on ICGA, increased choroidal thickness on OCT imaging, and pathologically dilated choroidal vessels. Advanced imaging such as EDI-OCT, SS-OCT, and ultrawide field imaging have provided more detailed analysis of choroidal abnormalities associated with diseases like central serous chorioretinopathy and polypoidal choroidal vasculopathy. Identification of the pachychoroid phenotype helps explain the spectrum of clinical manifestations in these diseases.
Cerebral amyloid angiopathy (CAA) refers to the deposition of β-amyloid in the arteries of the cerebral cortex. It is commonly seen in Alzheimer's disease but can also occur in healthy elderly individuals. CAA can cause intracerebral hemorrhage, dementia, or transient neurological symptoms. The deposition damages blood vessels and increases the risk of hemorrhage. Imaging such as CT scans can detect hemorrhages characteristic of CAA, which are often lobar and cortical. Genetic factors like the ApoE genotype can influence the severity and presentation of CAA.
This document discusses postoperative cerebral venous infarction (POCVI) based on a prospective study conducted at AIIMS, New Delhi between January-August 2006. The study aimed to determine the incidence and clinical-radiological course of POCVI. Of the 376 patients studied, 26 (7%) developed POCVI, with most occurring within 72 hours of surgery. The majority of cases were hemorrhagic infarcts. Most patients who developed POCVI had undergone surgery for intracranial tumors. The incidence and outcomes of POCVI found in this study are comparable to previous literature on this neurosurgical complication.
This document discusses neuronal migration disorders. It begins by introducing neuronal migration as a key feature of nervous system development. It then describes the three stages of neuronal migration and genes involved. Several specific neuronal migration disorders are defined and described in detail, including lissencephaly, schizencephaly, heterotopias, polymicrogyrias, focal cortical dysplasias, and porencephaly. Key features such as imaging findings and clinical presentations are provided for each. The document emphasizes that defects in neuronal migration pathways can lead to developmental problems and neurological issues like seizures or motor impairments.
Eales' disease is an idiopathic inflammatory retinal condition that primarily affects veins in the retina. It is characterized by perivascular inflammation that can lead to retinal ischemia and neovascularization. The disease progresses through stages from inflammation to ischemia to proliferation of new blood vessels. Treatment involves corticosteroids to reduce inflammation, laser photocoagulation to ablate new vessels, and vitrectomy for complications like vitreous hemorrhage or retinal detachment. While the exact cause is unknown, hypersensitivity to tuberculosis has been proposed as a potential trigger in many cases.
Polypoidal choroidal vasculopathy (PCV) is a type of macular degeneration characterized by abnormal choroidal blood vessels that bulge outward forming polyp-like structures. It shares similarities with neovascular age-related macular degeneration but may have distinct pathogenesis involving disruption of choroidal vascular smooth muscle cells. PCV predominantly affects Asians and is a leading cause of vision loss in this population. Diagnosis is made using indocyanine green angiography which clearly visualizes the abnormal polypoidal choroidal vessels. Treatment options include laser photocoagulation, photodynamic therapy, anti-VEGF drugs, and combinations with the goal of resolving fluid, hemorrhage and regressing the poly
Periphlebitis Retinae, also known as Eale's Disease, is an idiopathic inflammatory condition of the peripheral retinal veins that presents with recurrent vitreous and retinal hemorrhages in young adult males, typically between ages 20-30. It is caused by inflammation of the retinal vein walls that is commonly associated with tuberculosis. Symptoms include sudden vision impairment due to vitreous hemorrhage. Signs include thickened, tortuous, and congested peripheral retinal veins and large vitreous hemorrhages. Treatment focuses on treating any underlying infections like tuberculosis, photocoagulation of leaking retinal areas, and vitrectomy for advanced cases with retinitis proliferans.
Marfan syndrome is a genetic disorder that affects connective tissue and is caused by mutations in the FBN1 gene. It is a multisystem disorder that primarily impacts the skeletal, cardiovascular, and ocular systems. Common signs include overgrown limbs, chest deformities, eye problems, and aortic root enlargement which can lead to aortic dissections. Treatment focuses on managing cardiovascular complications through surgery and beta blockers, with the goal of improving life expectancy and reducing mortality risks.
This document discusses imaging techniques used to identify and characterize the pachychoroid phenotype. Key features of the pachychoroid phenotype include choroidal vascular hyperpermeability on ICGA, increased choroidal thickness on OCT imaging, and pathologically dilated choroidal vessels. Advanced imaging such as EDI-OCT, SS-OCT, and ultrawide field imaging have provided more detailed analysis of choroidal abnormalities associated with diseases like central serous chorioretinopathy and polypoidal choroidal vasculopathy. Identification of the pachychoroid phenotype helps explain the spectrum of clinical manifestations in these diseases.
Cerebral amyloid angiopathy (CAA) refers to the deposition of β-amyloid in the arteries of the cerebral cortex. It is commonly seen in Alzheimer's disease but can also occur in healthy elderly individuals. CAA can cause intracerebral hemorrhage, dementia, or transient neurological symptoms. The deposition damages blood vessels and increases the risk of hemorrhage. Imaging such as CT scans can detect hemorrhages characteristic of CAA, which are often lobar and cortical. Genetic factors like the ApoE genotype can influence the severity and presentation of CAA.
The document discusses degenerative diseases of the brain that can cause dementia or non-dementing disorders. It describes several major dementing degenerative diseases including Alzheimer's disease, dementia with Lewy bodies, and vascular dementias. Alzheimer's disease is characterized by amyloid plaques and neurofibrillary tangles leading to hippocampal and temporal lobe atrophy. Vascular dementia is caused by multiple infarcts visible as lesions on MRI. Non-dementing disorders discussed include Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. The document provides an overview of imaging and diagnostic features of these common neurodegenerative conditions.
Issues in radiological pathology: Radiological pathology of watershed infarct...Professor Yasser Metwally
The document discusses border zone or watershed infarcts, which occur at the junction between two main arterial territories and constitute approximately 10% of all brain infarcts. There are two types - external (cortical) and internal (subcortical). External infarcts are often embolic in nature while internal infarcts are mainly caused by hemodynamic compromise. Advanced imaging can help identify areas of low perfusion and distinguish the two types. The document then examines the classification, imaging appearance, causal mechanisms, and clinical course of both external and internal border zone infarcts in more detail.
Eales' disease is an idiopathic inflammatory retinal vasculitis that primarily affects young males in India. It involves peripheral retinal perivasculitis and ischemia leading to neovascularization and recurrent vitreous hemorrhage. While its exact etiology is unknown, it has been associated with tuberculosis and hypersensitivity to tubercular proteins. Treatment involves corticosteroids to reduce inflammation, laser photocoagulation to ablate new vessels and reduce hemorrhage risk, and vitrectomy for non-resolving hemorrhage or retinal detachment.
Retinoblastoma for undergraduate MBBS Students.
Covers the basics of Aetiology, Genetics, pathophysiology, clinical features, Classification and management of Retinoblastoma.
Also encompasses salient points for PGMEE
Von Hippel Lindau - Oftalmologia - CEPOA - Dr. Michel Bittencourt SantosMichel Bittencourt
The document discusses Von Hippel-Lindau disease, a genetic disorder that causes non-cancerous and cancerous tumors to form in various organs. It specifically focuses on how the disease manifests in the eyes through retinal hemangioblastomas, which are tumors that develop in the retina. The document provides 10 references on Von Hippel-Lindau disease and its ocular manifestations, treatments, and the importance of ophthalmic exams for patients with the disease.
This document discusses macular cherry red spot, which can be seen in certain metabolic storage diseases and central retinal artery occlusion. It provides details on the symptoms, funduscopy findings, investigations and management of central retinal artery occlusion. It then discusses various lysosomal storage diseases that can cause macular cherry red spot such as Niemann-Pick disease, GM1 gangliosidosis, and Tay-Sachs disease. Finally, it briefly covers progressive retinal necrosis and acute retinal necrosis, two necrotizing retinitides associated with herpes viruses.
Cerebral microbleeds are small brain hemorrhages detected by MRI that are caused by leakage of blood from damaged small vessel walls. They are increasingly recognized in patients with cerebrovascular disease, Alzheimer's disease, vascular cognitive impairment, and normal elderly populations. Microbleeds in lobar regions may indicate cerebral amyloid angiopathy and link vascular and amyloid neuropathologies, while deep or infratentorial microbleeds often reflect hypertensive vasculopathy. Detection of microbleeds provides insight into cerebral small vessel disease and its relationship to cognitive impairment and dementia.
1) 34 patients (63 eyes) with Eales' disease were evaluated, with most patients being male (79.4%) and bilateral cases (92.1%).
2) Visual acuity improved significantly following various treatments including laser photocoagulation, medical treatment, and vitrectomy.
3) Treatment outcomes were best for earlier disease stages, with later stages having higher risks of complications like traction retinal detachment and cataracts.
Pachychoroid spectrum of disease now also include central serous chorioretinopathy. The presentation include history, pathogenesis, clinical features, diffrential and treatment of CSCR
This document summarizes medical retina teaching about radiation retinopathy. It begins by describing a patient case and then discusses the histopathology, clinical features, diagnosis, incidence/dosimetry, differential diagnosis, and treatment of radiation retinopathy. Radiation retinopathy is characterized by delayed onset occlusive vasculopathy that can lead to vision loss. Histopathology shows endothelial cell damage and capillary closure. Clinical features include cotton wool spots, hemorrhages, and neovascularization. Diagnosis involves determining past radiation exposure. Incidence depends on radiation dose and fraction size. Treatment may involve laser photocoagulation for macular edema or neovascularization.
This document discusses the radiological pathology of seizure disorders. It describes various developmental anomalies, neoplasms, infections, immune-mediated disorders, cerebrovascular diseases, and trauma that can cause seizures. Specific conditions mentioned include cortical dysplasia, tuberous sclerosis, Sturge-Weber syndrome, neuronal migration disorders, vascular malformations, infections, and immune-mediated Rasmussen's encephalitis. The document provides detailed descriptions of the histopathological findings and MRI/CT appearances of different lesions that can underlie seizure disorders.
Dandy Walker Malformation is a congenital brain malformation characterized by 3 key features: an enlarged posterior fossa, an abnormal or absent cerebellar vermis, and a cyst in the fourth ventricle. It occurs due to genetic and environmental factors affecting fetal brain development. Patients experience developmental delays, motor problems, seizures, and other issues depending on severity. Diagnosis is via ultrasound, MRI or CT scan. Treatment involves surgery to address hydrocephalus and medications to control seizures. Prognosis depends on defect severity but early treatment can improve outcomes.
Endovascular Coil Embolization of Dissecting distal MCA Aneurysm with ICH in ...Dr. Shahnawaz Alam
This document discusses a case of a 12-year-old female patient who presented with sudden severe headache and loss of consciousness following a fall in the bathroom. Diagnostic imaging revealed a dissecting aneurysm of the middle cerebral artery (MCA). The patient underwent serial coil embolization of the aneurysm. The document discusses the treatment approach for dissecting MCA aneurysms and reviews similar cases reported in medical literature.
This document discusses cerebral haemorrhage (ICH), which accounts for 10-15% of strokes. ICH can result from several mechanisms, including hypertension (47-66% of cases), cerebral amyloid angiopathy (CAA), and vascular malformations. CAA typically affects the elderly and causes lobar ICH that is often recurrent or involves multiple simultaneous haemorrhages. Vascular malformations like arteriovenous malformations (AVMs) and cavernous angiomas are a common cause of ICH in young, non-hypertensive patients. Imaging techniques like CT and MRI can identify vascular malformations and help determine the underlying cause of ICH.
Coat's disease is characterized by retinal vascular abnormalities including telangiectasias, microaneurysms, venous dilations, and fusiform capillary dilatations. This frequently results in exudative retinal detachment as serum and blood components leak from incompetent vessels and accumulate under the retina. The disease primarily affects young males and progresses more rapidly in children under 4 years old, potentially causing massive exudation and retinal detachment apposing the lens. Late presentation in adults typically shows lipid deposition in the macula from peripheral leakage of preexisting vascular anomalies.
Unruptured intracranial aneurysms in children with SCDEmily Wyse
Five out of 179 children with sickle cell disease who underwent brain imaging were found to have unruptured intracranial aneurysms, for a prevalence of 2.8%. A total of 18 aneurysms were detected in these 5 patients, with most patients having multiple aneurysms and bilateral involvement. The majority of aneurysms were located in the cavernous and clinoid segments of the carotid circulation. This study suggests that children with sickle cell disease may be at increased risk of developing multiple intracranial aneurysms.
The document summarizes several common differentials for leukocoria or white pupil, which can be a sign of retinoblastoma. It discusses the following conditions:
1) Persistent hyperplastic primary vitreous, which can cause anterior or posterior abnormalities and often leads to glaucoma or retinal detachment. Surgery may improve vision for some.
2) Coats' disease, characterized by retinal telangiectasia and exudation that can cause vision loss. Classification and treatment depends on exudation severity.
3) Presumed ocular toxocariasis, which presents as chronic endophthalmitis, granulomas, or inflammatory masses. Treatment focuses on inflammation while
Retinitis pigmentosa is a genetically heterogeneous group of retinal disorders characterized by progressive loss of photoreceptors and retinal pigment epithelium. It is a common cause of visual impairment, affecting around 1 in 3000-5000 people. The disease typically begins with night blindness in adolescence or early adulthood due to rod photoreceptor degeneration, eventually progressing to include cone cell death and visual field constriction. Genetic testing can help determine the inheritance pattern and risk of transmission to family members. Further research aims to identify all disease-causing genes and mutations to improve molecular diagnosis and understanding of retinitis pigmentosa.
This document discusses the clinical features of retinoblastoma. It begins by covering the epidemiology, including that it typically presents within the first 3 years of life and can occur in adults in rare cases. It then discusses family history patterns and consanguinity. Several atypical presentations are described from studies in India. Common clinical features include leukocoria, strabismus, poor vision, and proptosis. Differential diagnoses for leukocoria include conditions like toxocara endophthalmitis and Coats disease. Rare presentations in adults and older children are also reviewed.
Neurocysticercosis the notorious vanishing ring enhancing lesion ijar feb 2015Sachin Adukia
This document summarizes a study of 25 patients presenting with ring enhancing lesions (RELs) on MRI brain scans. The study aimed to evaluate clinical features and diagnoses of RELs and treatment outcomes. Of the 25 patients, 8 (32%) were diagnosed with neurocysticercosis based on clinical features, investigations and MRI findings. All 8 neurocysticercosis patients presented with seizures and most with headache. Lesions were typically solitary and less than 10mm. Treatment with albendazole, anti-convulsants and steroids resulted in complete resolution in 6 patients (75%) and regression/calcification in the remaining 2, demonstrating neurocysticercosis has an excellent prognosis with appropriate treatment.
The document discusses degenerative diseases of the brain that can cause dementia or non-dementing disorders. It describes several major dementing degenerative diseases including Alzheimer's disease, dementia with Lewy bodies, and vascular dementias. Alzheimer's disease is characterized by amyloid plaques and neurofibrillary tangles leading to hippocampal and temporal lobe atrophy. Vascular dementia is caused by multiple infarcts visible as lesions on MRI. Non-dementing disorders discussed include Parkinson's disease, multiple system atrophy, and progressive supranuclear palsy. The document provides an overview of imaging and diagnostic features of these common neurodegenerative conditions.
Issues in radiological pathology: Radiological pathology of watershed infarct...Professor Yasser Metwally
The document discusses border zone or watershed infarcts, which occur at the junction between two main arterial territories and constitute approximately 10% of all brain infarcts. There are two types - external (cortical) and internal (subcortical). External infarcts are often embolic in nature while internal infarcts are mainly caused by hemodynamic compromise. Advanced imaging can help identify areas of low perfusion and distinguish the two types. The document then examines the classification, imaging appearance, causal mechanisms, and clinical course of both external and internal border zone infarcts in more detail.
Eales' disease is an idiopathic inflammatory retinal vasculitis that primarily affects young males in India. It involves peripheral retinal perivasculitis and ischemia leading to neovascularization and recurrent vitreous hemorrhage. While its exact etiology is unknown, it has been associated with tuberculosis and hypersensitivity to tubercular proteins. Treatment involves corticosteroids to reduce inflammation, laser photocoagulation to ablate new vessels and reduce hemorrhage risk, and vitrectomy for non-resolving hemorrhage or retinal detachment.
Retinoblastoma for undergraduate MBBS Students.
Covers the basics of Aetiology, Genetics, pathophysiology, clinical features, Classification and management of Retinoblastoma.
Also encompasses salient points for PGMEE
Von Hippel Lindau - Oftalmologia - CEPOA - Dr. Michel Bittencourt SantosMichel Bittencourt
The document discusses Von Hippel-Lindau disease, a genetic disorder that causes non-cancerous and cancerous tumors to form in various organs. It specifically focuses on how the disease manifests in the eyes through retinal hemangioblastomas, which are tumors that develop in the retina. The document provides 10 references on Von Hippel-Lindau disease and its ocular manifestations, treatments, and the importance of ophthalmic exams for patients with the disease.
This document discusses macular cherry red spot, which can be seen in certain metabolic storage diseases and central retinal artery occlusion. It provides details on the symptoms, funduscopy findings, investigations and management of central retinal artery occlusion. It then discusses various lysosomal storage diseases that can cause macular cherry red spot such as Niemann-Pick disease, GM1 gangliosidosis, and Tay-Sachs disease. Finally, it briefly covers progressive retinal necrosis and acute retinal necrosis, two necrotizing retinitides associated with herpes viruses.
Cerebral microbleeds are small brain hemorrhages detected by MRI that are caused by leakage of blood from damaged small vessel walls. They are increasingly recognized in patients with cerebrovascular disease, Alzheimer's disease, vascular cognitive impairment, and normal elderly populations. Microbleeds in lobar regions may indicate cerebral amyloid angiopathy and link vascular and amyloid neuropathologies, while deep or infratentorial microbleeds often reflect hypertensive vasculopathy. Detection of microbleeds provides insight into cerebral small vessel disease and its relationship to cognitive impairment and dementia.
1) 34 patients (63 eyes) with Eales' disease were evaluated, with most patients being male (79.4%) and bilateral cases (92.1%).
2) Visual acuity improved significantly following various treatments including laser photocoagulation, medical treatment, and vitrectomy.
3) Treatment outcomes were best for earlier disease stages, with later stages having higher risks of complications like traction retinal detachment and cataracts.
Pachychoroid spectrum of disease now also include central serous chorioretinopathy. The presentation include history, pathogenesis, clinical features, diffrential and treatment of CSCR
This document summarizes medical retina teaching about radiation retinopathy. It begins by describing a patient case and then discusses the histopathology, clinical features, diagnosis, incidence/dosimetry, differential diagnosis, and treatment of radiation retinopathy. Radiation retinopathy is characterized by delayed onset occlusive vasculopathy that can lead to vision loss. Histopathology shows endothelial cell damage and capillary closure. Clinical features include cotton wool spots, hemorrhages, and neovascularization. Diagnosis involves determining past radiation exposure. Incidence depends on radiation dose and fraction size. Treatment may involve laser photocoagulation for macular edema or neovascularization.
This document discusses the radiological pathology of seizure disorders. It describes various developmental anomalies, neoplasms, infections, immune-mediated disorders, cerebrovascular diseases, and trauma that can cause seizures. Specific conditions mentioned include cortical dysplasia, tuberous sclerosis, Sturge-Weber syndrome, neuronal migration disorders, vascular malformations, infections, and immune-mediated Rasmussen's encephalitis. The document provides detailed descriptions of the histopathological findings and MRI/CT appearances of different lesions that can underlie seizure disorders.
Dandy Walker Malformation is a congenital brain malformation characterized by 3 key features: an enlarged posterior fossa, an abnormal or absent cerebellar vermis, and a cyst in the fourth ventricle. It occurs due to genetic and environmental factors affecting fetal brain development. Patients experience developmental delays, motor problems, seizures, and other issues depending on severity. Diagnosis is via ultrasound, MRI or CT scan. Treatment involves surgery to address hydrocephalus and medications to control seizures. Prognosis depends on defect severity but early treatment can improve outcomes.
Endovascular Coil Embolization of Dissecting distal MCA Aneurysm with ICH in ...Dr. Shahnawaz Alam
This document discusses a case of a 12-year-old female patient who presented with sudden severe headache and loss of consciousness following a fall in the bathroom. Diagnostic imaging revealed a dissecting aneurysm of the middle cerebral artery (MCA). The patient underwent serial coil embolization of the aneurysm. The document discusses the treatment approach for dissecting MCA aneurysms and reviews similar cases reported in medical literature.
This document discusses cerebral haemorrhage (ICH), which accounts for 10-15% of strokes. ICH can result from several mechanisms, including hypertension (47-66% of cases), cerebral amyloid angiopathy (CAA), and vascular malformations. CAA typically affects the elderly and causes lobar ICH that is often recurrent or involves multiple simultaneous haemorrhages. Vascular malformations like arteriovenous malformations (AVMs) and cavernous angiomas are a common cause of ICH in young, non-hypertensive patients. Imaging techniques like CT and MRI can identify vascular malformations and help determine the underlying cause of ICH.
Coat's disease is characterized by retinal vascular abnormalities including telangiectasias, microaneurysms, venous dilations, and fusiform capillary dilatations. This frequently results in exudative retinal detachment as serum and blood components leak from incompetent vessels and accumulate under the retina. The disease primarily affects young males and progresses more rapidly in children under 4 years old, potentially causing massive exudation and retinal detachment apposing the lens. Late presentation in adults typically shows lipid deposition in the macula from peripheral leakage of preexisting vascular anomalies.
Unruptured intracranial aneurysms in children with SCDEmily Wyse
Five out of 179 children with sickle cell disease who underwent brain imaging were found to have unruptured intracranial aneurysms, for a prevalence of 2.8%. A total of 18 aneurysms were detected in these 5 patients, with most patients having multiple aneurysms and bilateral involvement. The majority of aneurysms were located in the cavernous and clinoid segments of the carotid circulation. This study suggests that children with sickle cell disease may be at increased risk of developing multiple intracranial aneurysms.
The document summarizes several common differentials for leukocoria or white pupil, which can be a sign of retinoblastoma. It discusses the following conditions:
1) Persistent hyperplastic primary vitreous, which can cause anterior or posterior abnormalities and often leads to glaucoma or retinal detachment. Surgery may improve vision for some.
2) Coats' disease, characterized by retinal telangiectasia and exudation that can cause vision loss. Classification and treatment depends on exudation severity.
3) Presumed ocular toxocariasis, which presents as chronic endophthalmitis, granulomas, or inflammatory masses. Treatment focuses on inflammation while
Retinitis pigmentosa is a genetically heterogeneous group of retinal disorders characterized by progressive loss of photoreceptors and retinal pigment epithelium. It is a common cause of visual impairment, affecting around 1 in 3000-5000 people. The disease typically begins with night blindness in adolescence or early adulthood due to rod photoreceptor degeneration, eventually progressing to include cone cell death and visual field constriction. Genetic testing can help determine the inheritance pattern and risk of transmission to family members. Further research aims to identify all disease-causing genes and mutations to improve molecular diagnosis and understanding of retinitis pigmentosa.
This document discusses the clinical features of retinoblastoma. It begins by covering the epidemiology, including that it typically presents within the first 3 years of life and can occur in adults in rare cases. It then discusses family history patterns and consanguinity. Several atypical presentations are described from studies in India. Common clinical features include leukocoria, strabismus, poor vision, and proptosis. Differential diagnoses for leukocoria include conditions like toxocara endophthalmitis and Coats disease. Rare presentations in adults and older children are also reviewed.
Neurocysticercosis the notorious vanishing ring enhancing lesion ijar feb 2015Sachin Adukia
This document summarizes a study of 25 patients presenting with ring enhancing lesions (RELs) on MRI brain scans. The study aimed to evaluate clinical features and diagnoses of RELs and treatment outcomes. Of the 25 patients, 8 (32%) were diagnosed with neurocysticercosis based on clinical features, investigations and MRI findings. All 8 neurocysticercosis patients presented with seizures and most with headache. Lesions were typically solitary and less than 10mm. Treatment with albendazole, anti-convulsants and steroids resulted in complete resolution in 6 patients (75%) and regression/calcification in the remaining 2, demonstrating neurocysticercosis has an excellent prognosis with appropriate treatment.
This document discusses focal cortical dysplasia, a type of neuronal migration disorder caused by abnormal proliferation and migration of neurons during brain development. It begins by providing background on normal cortical development. It then defines focal cortical dysplasia and describes its characteristics and appearance on imaging studies. The document notes that focal cortical dysplasia is a common cause of epilepsy, especially in pediatric patients. Surgical treatment can successfully treat epilepsy in many patients with focal cortical dysplasia if the abnormal cortex is fully resected.
The study investigated the relationship between dilated Virchow-Robin spaces (VRS) seen on MRI and cerebral microvascular disease in elderly patients with dementia. 75 patients with Alzheimer's disease, ischemic vascular dementia, or frontotemporal dementia underwent MRI and were compared to 35 healthy volunteers. VRS scores were significantly higher in patients with vascular dementia compared to those with Alzheimer's disease, frontotemporal dementia, or healthy volunteers. VRS scores accounted for 29% of the variance in a regression model, more than periventricular hyperintensities, suggesting dilated VRS are a sensitive indicator of cerebral microvascular disease.
The document summarizes a study that reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD). The key findings were:
1) Only 1 patient (6%) had classic SOD with septum pellucidum/corpus callosum dysgenesis, while the majority (76%) had SOD-plus with cortical malformations like schizencephaly or polymicrogyria.
2) All patients had optic nerve hypoplasia, 65% had endocrinologic deficits, and 76% had abnormal cerebral midlines. Neurodevelopmental outcomes were abnormal in 78% ranging from mild to severe delays.
3) Patients with S
Global estimates indicate that the prevalence of glaucoma is 3.54% worldwide, and the number of people affected is projected to increase from 64.3 million in 2013 to 111.8 million in 2040. Glaucoma is the leading cause of irreversible blindness, with open-angle glaucoma affecting an estimated 4.5 million people and angle-closure glaucoma affecting 3.9 million people globally. Pseudoexfoliation syndrome is the most common cause of secondary open-angle glaucoma worldwide and is characterized by the deposition of pseudoexfoliative material in various structures of the anterior eye segment.
This document provides an update on cerebellar ataxias. It discusses the clinical presentation and subtypes of cerebellar ataxias, including the cerebellar motor syndrome, vestibulocerebellar syndrome, and cerebellar cognitive affective syndrome. Recent findings demonstrate anatomical relationships between the cerebellum and basal ganglia. Next-generation sequencing has identified more genes associated with cerebellar ataxias and expanded the spectrum of disorders. Novel therapies targeting pathogenic pathways are in development.
Transcatheter Aortic Valve Replacement (TAVR) is a transformational and rapidly evolving treatment for the patients with aortic stenosis which require valve replacement surgery. Get more details at website.
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The document discusses pediatric radiology and presents six clinical cases. It begins with an overview of pediatric imaging statistics in the US and evolving guidelines for radiation doses. Six cases are then presented and diagnosed: aortic coarctation, craniosynostosis, cystic fibrosis, osteogenesis imperfecta, tetralogy of Fallot, and Aicardi syndrome. For each case, the presenter provides the diagnosis and key details about the condition.
This document discusses thyroid eye disease (TED), also known as Graves' ophthalmopathy. It covers the pathology, signs and symptoms, investigations, and treatment approaches for TED. Key points include that TED is an autoimmune disorder characterized by infiltrative orbitopathy, common signs include lid retraction, proptosis, restrictive myopathy, and optic neuropathy. Investigations include serological tests, CT or MRI imaging, and visual field testing. Treatment focuses on managing acute congestive orbitopathy, compressive optic neuropathy, motility disorders, and eyelid abnormalities, and may include corticosteroids, radiation therapy, or decompression surgery.
Meningomyelocoele is a severe type of spina bifida where the meninges, nerve roots, and spinal cord protrude through a defect in the spine. It occurs due to failure of the neural tube to close during early development. Children with meningomyelocoele often experience neurological deficits, paralysis, bladder and bowel issues, hydrocephalus, and other health problems. Treatment involves surgery to close the defect, management of complications, and physical therapy. Improving mobility, even with assistance, can positively impact cognitive development in children with meningomyelocoele compared to those who are not mobile.
Meningomyelocoele is a severe type of spina bifida where the meninges, nerve roots, and spinal cord protrude through a defect in the spine. It occurs due to failure of the neural tube to close during early development. Children with meningomyelocoele often experience neurological deficits, paralysis, bladder and bowel issues, hydrocephalus, and other health problems. Treatment requires surgery after birth to close the defect, as well as lifelong multidisciplinary care and therapies to address complications. Improving mobility, even with aids, can positively impact cognitive development in children with meningomyelocoele compared to those who are wheelchair-dependent.
Meningomyelocoele is a severe type of spina bifida where the meninges, nerve roots and spinal cord protrude through a defect in the vertebral canal. It occurs due to failure of the neural tube to close during early development. Children with meningomyelocoele often experience neurological deficits, hydrocephalus, paraplegia, bladder and bowel issues, and cognitive problems. Treatment involves closure of the defect soon after birth along with lifelong multidisciplinary care to address complications and support development.
Next-generation sequencing is providing new insights into inherited retinal dystrophies. The following key points are made:
1) Current molecular diagnosis can identify the disease mechanism in 50-60% of nonsyndromic retinal dystrophy patients. Multiple pathogenic variants may be present.
2) Analysis of the ABCA4 gene, associated with Stargardt disease, has uncovered deep intronic mutations and rare combinations of mutations in multiple genes.
3) Interpretation of sequencing results is challenging due to the discovery of variants of uncertain significance and complications with inheritance patterns. Retinal dystrophy is becoming a model for studying the molecular basis of rare genetic diseases.
DISEASES OF GENETIC MUTATION, TREATMENTS(2).pptxTasiumujahid
Genetic mutations can cause diseases by altering DNA sequences. There are two main types of genetic mutations - chromosomal mutations which change chromosome structure or number, and gene mutations which alter individual genes. Some diseases caused by genetic mutations include Klinefelter syndrome, hemophilia, fragile X syndrome, sickle cell anemia, Down syndrome, and cancer. The genetic basis for these diseases involves changes to genes, chromosomes, or DNA that disrupt normal cell functioning and development. Manifestations and treatment options vary depending on the specific disease.
This document provides information on orbital apex syndrome (OAS) and related conditions. It begins with an overview of applied anatomy of the superior orbital fissure and orbital apex. It then discusses the classification of OAS, cavernous sinus syndrome, and superior orbital fissure syndrome. The clinical presentation, etiology, and management of these conditions is summarized. Common causes include tumors, infections, inflammation, and vascular abnormalities. The document provides details on specific pathologies, treatments, and outcomes.
Andreea moraru pachychoroid spectrum of diseasesCiprianIonescu6
The document discusses the pachychoroid spectrum of diseases, which are characterized by choroidal thickening and retinal pigment epithelial changes. Optical coherence tomography has helped classify these conditions and identify characteristic features like increased choroidal thickness and dilated choroidal vessels. The spectrum includes conditions like pachychoroid pigment epitheliopathy, central serous chorioretinopathy, pachychoroid neovasculopathy, and polypoidal choroidal vasculopathy, which are believed to represent different stages of a common pathogenic process involving choroidal changes.
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Understanding and Expanding the Phenotype in Norrie Disease
1. Heidi L. Rehm, PhD, FACMG Assistant Professor of Pathology, BWH and HMS Clinical Molecular Geneticist, Laboratory for Molecular Medicine, PCPGM Understanding and Expanding the Phenotype in Norrie Disease
22. Norrie Disease Clinical Survey Study Number of Participants Age Range (years) 56 individuals with Norrie disease participated in our survey
23. Participants Reporting Peripheral Vascular Disease Peripheral vascular disease (PVD), including varicose veins, leg ulcers, and/or erectile dysfunction, was reported in 21/56 (38%) of all participants or 21/36 (58%) of those 16 or older.
24. Erectile Dysfunction in Norrie Disease Of the 24 men queried 14/24 (58%) reported erectile dysfunction. Three men had decreased penile blood flow documented by angiography and Doppler ultrasound. Two had successful penile implants.
26. Participants Reporting Hearing Loss Age Range (years) Number of Participants The average age of hearing loss was 12 yrs. With one exception, all individuals 25 and older had developed hearing loss and the earliest age of onset was 5 yrs.
27.
Editor's Notes
Slide 2: This pedigree shows a 6 generation family from Costa Rica with 15 males affected with blindness, progressive hearing loss and peripheral vascular disease. We eventually identified a mutation in the NDP gene which defined the first Norrie disease family with peripheral vascular disease.
The peripheral vascular disease seen in the Costa Rican family was defined by varicose veins in the lower limbs and venous stasis ulcers.
Another clue that Norrie disease may be due to a fundamental defect in vascular development is the fact that some patients with mutations in the NDP gene can present with vascular eye diseases such as FEVR (familial exudative vitreoretinopathy) or Coat’s disease. In FEVR, some patients are asymptomatic and the only evidence of disease is the lack of vascular development in the peripheral retina. In Coat’s disease, the blood vessels of the retina are dilated and tortuous.
Looking at the retina of the Norrie mouse, we can see that much of the fine capillary network of retinal vessels is missing.
If we separate the two layers of the retina into the inner retina and the outer retina we can see that the outer retinal vasculature is absent in the Norrie mouse.
During normal retinal vascular development, blood vessels first populate the inner retina and then secondarily grow down into the outer retina. Therefore, this latter stage of retinal vascular development appears to be absent in the Norrie mouse retina.
This slide shows the location of gene expression of the NDP gene in the inner ear (cochlea). The gene is expressed in the spiral ganglion, where the cochlear nerve is located as well as a rich supply of blood vessels. The NDP gene is also expressed in the stria vascularis, which houses most of the blood vessels that nourish the cochlea.
The Norrie mouse model also develops a progressive hearing loss.
The first evidence of disease in the cochlea of Norrie mice is abnormal blood vessels in the stria vascularis. Later, many areas of the cochlea degenerate including the stria vascularis, the hair cells and the spiral ganglion.
Although the number of vessels does not appear to be affected until later stages of disease, early on, the abnormality of the vessels seems to be their diameter. Blood vessels of the Norrie cochlear are much larger in diameter.
These images show the much larger diameter vessels in the Norrie mouse cochlea compared to control mice.
56 individuals with Norrie disease, aged 3 months to 87 years, participated in our survey of the clinical features of disease.
16% reported a seizure disorder, 28% reported cognitive impairment, and 45% reported various behavioral disturbances.