205 results found
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...
Case
Hyperdense thalami-perinatal ischemia
Published
06 Nov 2020
77% complete
CT
Case
Neuronal ceroid lipofuscinosis
Published
05 Dec 2021
77% complete
MRI
Case
Medial temporal lobe atrophy
Published
10 Jul 2015
77% complete
MRI
Annotated image
Case
Mucopolysaccharidosis type VI
Published
04 Dec 2020
77% complete
MRI
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...
Case
Cerebral fat embolism (type 2A) - confluent edema in white matter
Published
09 Mar 2022
68% complete
X-ray
CT
Case
Dyke–Davidoff–Masson syndrome with crossed cerebellar atrophy
Published
25 Jan 2022
68% complete
MRI
Case
Infantile tremor syndrome
Published
24 Mar 2021
65% complete
MRI
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 ...
Case
Frontotemporal lobar degeneration with caudate atrophy
Published
01 Nov 2012
62% complete
Annotated image
CT
Case
Metachromatic leukodystrophy
Published
27 Apr 2023
62% complete
MRI
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...
Case
Elderly CT brain
Published
24 Nov 2014
56% complete
CT
Case
Proteus syndrome
Published
26 Jan 2023
87% complete
Photo
MRI
CT
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...
Playlist
Neuro: White Matter Diseases
12 cases
No description provided
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.
...
Case
Cella media index
Published
24 Jul 2013
45% complete
CT