Search results for “cerebral atrophy”

141 results found
Article

Hydrocephalus ex vacuo

Hydrocephalus ex vacuo, also known as compensatory enlargement of the CSF spaces, is a term used to describe the increase in the volume of CSF, characterized on images as an enlargement of cerebral ventricles and subarachnoid spaces, caused by encephalic volume loss. Terminology It can be clas...
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Twin embolization syndrome

Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin. Pathology It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...
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Fucosidosis

Fucosidosis (plural: fucosidoses) is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products. Epidemiology It is considered very rare, with approxi...
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Friedreich ataxia

Friedreich ataxia is the most common hereditary progressive ataxia. Epidemiology Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection. Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are t...
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Mesial temporal sclerosis

Mesial temporal sclerosis (MTS), also commonly referred to as hippocampal sclerosis, is the most common association with intractable temporal lobe epilepsy (TLE) 2,3,5. It is seen in up to 65% of autopsy studies, although significantly less on imaging. Clinical presentation Most patients prese...
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Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.  Clinical presentation The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...
Article

Incontinentia pigmenti

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, especially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males. Epidemiology Incontinentia pigmenti is rare and the true pr...
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Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare inherited autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration.  Epidemiology The age at symptoms m...
Article

Variably protease sensitive prionopathy

Variably protease sensitive prionopathy (VPSPr) is a very rare type of sporadic human prion disease that was first described in 2008. Clinical presentation Clinical presentation is varied, but most patients demonstrate a combination of: progressive neuropsychiatric features: dementia and psyc...
Article

Aceruloplasminemia

Aceruloplasminemia is an autosomal recessive type of neurodegeneration with brain iron accumulation and disorder of iron metabolism caused by a mutation in the ceruloplasmin (CP) gene resulting in the production of dysfunctional ceruloplasmin. Epidemiology Aceruloplasminemia is a very rare dis...
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Limbic-predominant age-related TDP-43 encephalopathy

Limbic-predominant age-related TDP-43 encephalopathy (LATE) is a common neurodegenerative disorder of elderly adults (usually >80 years old). It manifests clinically as amnestic dementia and pathologically as TDP-43 proteinopathy in limbic system structures such as the hippocampus. Terminology ...
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Cerebrotendinous xanthomatosis

Cerebrotendinous xanthomatosis is an autosomal recessive lipid storage disorder caused by defects in sterol-27-hydroxylase enzyme in bile acid synthesis. This leads to early cataract formation, atherosclerosis, hypercholesterolemia, and tendinous xanthomas.  Clinical presentation Clinically ce...
Article

Hypomelanosis of Ito

Hypomelanosis of Ito, also known as incontinentia pigmentiachromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems. Epidemiology The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital 3...
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Neurosyphilis

Neurosyphilis results from infection of the central nervous system by the spirochete Treponema pallidum, subspecies pallidum. The disease has a heterogeneous spectrum of early and late manifestations. For a general discussion, and for links to other system specific manifestations, please refer ...
Article

Subcortical arteriosclerotic encephalopathy

Subcortical arteriosclerotic encephalopathy (SAE), also known as Binswanger disease or small vessel dementia, refers to slowly progressive exclusively white-matter multi-infarct dementia.  A genetically transmitted form of the disease is known as familial arteriopathic leukoencephalopathy or CA...
Article

Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive degenerative movement disorder resulting from a fragile X “premutation”, defined as 55-200 CGG repeats in the 5’-untranslated region of the FMR1 gene 1. The premutation can expand in subsequent generations (during oogenesis) to...
Article

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant microvasculopathy characterized by recurrent lacunar and subcortical white matter ischemic strokes and vascular dementia in young and middle age patients without known va...
Article

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Clinical presentation cha...
Article

Nasu Hakola disease

Nasu Hakola disease, also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, is a rare inherited neuropsychiatric disorder which in addition to cognitive impairment also is demonstrates bone cysts.   Epidemiology Nasu Hakola disease is inherited as an autoso...
Article

International panel for NMO diagnosis criteria

The 2015 International Panel for NMO Diagnosis criteria are, as the name implies, a set of criteria used to diagnose neuromyelitis optic spectrum disorder (NMOSD) 1. They are based on a combination of clinical, laboratory, and neuroimaging findings. Criteria Diagnostic criteria for NMOSD with ...

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