126 results found
Article
Wolfram syndrome (type one)
Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance.
Clinical presentation
The syndrome presents initially with type 1 diabetes mellitus, followed by optic atrophy, diabe...
Article
Niemann-Pick disease type C
Niemann-Pick disease type c (NPD-C or just NPC) is an autosomal recessive lysosomal storage disorder classed under Niemann-Pick disease on account of clinical similarities, namely hepatosplenomegaly and variable involvement of the central nervous system.
Epidemiology
NPD-C is inherited as an ...
Article
Ataxia-telangiectasia
Ataxia-telangiectasia, also known as Louis-Bar syndrome, is a rare multisystem autosomal recessive disorder, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
On brain imaging, it usually demo...
Article
Tuberous sclerosis
Tuberous sclerosis (TS), also known as tuberous sclerosis complex (TSC) or Bourneville disease, is a phakomatosis (neurocutaneous disorder) characterized by the development of multiple benign tumors of the embryonic ectoderm (e.g. skin, eyes, and nervous system).
Epidemiology
Tuberous sclerosi...
Article
Cockayne syndrome
Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
Article
Subacute combined degeneration of the cord
Subacute combined degeneration of the cord is caused by vitamin B12 deficiency.
Epidemiology
Most common in patients older than 40 years and especially older than 60 years 7.
Clinical presentation
The clinical presentation of subacute combined degeneration is usually with loss of vibration ...
Article
Pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL)
Pontine autosomal dominant microangiopathy with leukoencephalopathy (PADMAL) is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease. It is a distinct entity to COL4A1 brain small-vessel disease, but very likely on the same spectrum of disea...
Article
Sneddon syndrome
Sneddon syndrome is a type of systemic non-inflammatory vasculopathy characterized by livedo reticularis and progressive and occlusive cerebrovascular thrombosis involving the medium-sized arteries.
Epidemiology
Sneddon syndrome is more common in females, and tends to affect a young adult popu...
Article
Dementia with Lewy bodies
Dementia with Lewy bodies (DLB), also known as Lewy body disease, is a neurodegenerative disease (a synucleinopathy to be specific) related to Parkinson disease.
Epidemiology
Dementia with Lewy bodies presents in older patients (onset typically in 50-70 years of age), and is sporadic 1,2,7.
...
Article
Cerebellar hypoplasia
Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time 1,4. The pattern of volume loss may be regional (affecting only part of the cerebellum) or global.
Terminology
Global cere...
Article
Hemiconvulsion-hemiplegia epilepsy syndrome
Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy.
It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Article
Vanishing white matter disease
Vanishing white matter disease (VWM), also known as childhood ataxia with central hypomyelination (CACH), is a rare, genetic leukoencephalopathy due to mutations in EIF2B subunit mutations, typically appearing as extensive white matter involvement with cavitary changes.
Epidemiology
Most cases...
Article
Scoliosis
Scoliosis (plural: scolioses) is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities.
Terminology
Early onset sco...
Article
Linear scleroderma
Linear scleroderma, also known as scleroderma en coup de saber, is a very focal form of scleroderma classically characterized by a linear band of atrophy involving the frontal or frontoparietal scalp and subjacent thinned calvaria associated with ipsilateral focal brain abnormalities.
Linear sc...
Article
Morning glory sign (midbrain)
Morning glory sign of progressive supranuclear palsy (PSP) and multisystem atrophy, not to be confused with morning glory syndrome, refers to the appearance of the midbrain on axial imaging 1.
Graphically this is identified on an axial image at the level of the midbrain by drawing 1:
a horiz...
Article
Cerebral amyloid angiopathy
Cerebral amyloid angiopathy (CAA) is a cerebrovascular disorder caused by the accumulation of cerebral amyloid-β (Aβ) in the tunica media and adventitia of leptomeningeal and cortical vessels of the brain. The resultant vascular fragility tends to manifest in normotensive elderly patients as lob...
Article
Adrenomyeloneuropathy
Adrenomyeloneuropathy is a form of X-linked adrenoleukodystrophy characterized by pronounced involvement of the spinal cord with only minor involvement of the cerebral white matter.
Clinical presentation
Clinical presentation depends on whether or not there is also cerebral involvement.
In ...
Article
Shrimp sign (progressive multifocal leukoencephalopathy)
The shrimp sign is an MRI marker of cerebellar progressive multifocal leukoencephalopathy, characterized by T2-hyperintensity in the cerebellar white matter abutting but sparing the dentate nucleus.
The white matter lesion resembles a shrimp, with the dentate nucleus outlining the belly of the ...
Article
Wallerian degeneration
Wallerian degeneration is the process of antegrade degeneration of the axons and their accompanying myelin sheaths following proximal axonal or neuronal cell body lesions. It may result following neuronal loss due to cerebral infarction, trauma, necrosis, focal demyelination, or hemorrhage.
Pa...
Article
Dyke-Davidoff-Masson syndrome
Dyke-Davidoff-Masson syndrome is a condition characterized by hemicerebral atrophy/hypoplasia secondary to brain insult usually in fetal or early childhood period and is accompanied by ipsilateral compensatory osseous hypertrophy and contralateral hemiparesis.
It is characterized by:
thickenin...
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