180 results found
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...
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
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD), refers to a rare inherited autosomal dominant disease characterized by an adult-onset l...
Article
Adult polyglucosan body disease
Adult polyglucosan body disease (APBD) is a very rare adult-onset form of glycogen storage disease type IV with characteristic clinicoradiological features.
Epidemiology
Adult polyglucosan body disease is considered very rare 1,2, but the exact incidence is not known and it may often be misdia...
Article
Alpers syndrome
Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.
Epidemiology
Alpers syndrome is incredibl...
Case
Alzheimer disease
Published
07 Dec 2017
68% complete
MRI
Article
Alzheimer disease
Alzheimer disease is a common neurodegenerative disease, responsible for 60-80% of all dementias, and imposing a significant burden on developed nations. It is associated with an accumulation and deposition of cerebral amyloid-β (Aβ) and is the most common cerebral amyloid deposition disease.
...
Article
Anorexia nervosa
Anorexia nervosa is a psychiatric disorder characterized by distorted self-perception of body weight leading to starvation, obsession with remaining underweight, and an excessive fear of gaining weight. One in five patients with anorexia dies due to complications of the disease.
Epidemiology
T...
Article
Anorexia nervosa (CNS manifestations)
The CNS manifestations of anorexia nervosa are common but varied with most of the imaging features non-specific in their own right.
For a general discussion, and for links to other system specific manifestations, please refer to the article on anorexia nervosa.
Epidemiology
Studies have iden...
Case
Artery of Percheron territory old infarction
Published
03 Feb 2024
95% complete
MRI
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
Autoimmune glial fibrillary acid protein (GFAP) astrocytopathy
Autoimmune glial fibrillary acid protein (GFAP) astrocytopathy, or simply GFAP astrocytopathy, is a rare inflammatory central nervous system (CNS) disorder.
Epidemiology
Given the rarity of the condition, epidemiological data pertaining to autoimmune GFAP astrocytopathy are not well establishe...
Case
Bacterial meningitis
Published
19 Jun 2021
74% complete
CT
Case
Benign enlargement of subarachnoid space in infancy
Published
26 Jul 2022
89% complete
MRI
Article
Benign enlargement of the subarachnoid space in infancy
Benign enlargement of the subarachnoid spaces in infancy (BESS or BESSI) also known as benign external hydrocephalus (BEH) is, as per the name, a benign enlargement of the subarachnoid spaces in infants. It usually involves the frontal lobe subarachnoid spaces, and it is characterized clinically...
Article
Biotinidase deficiency
Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of biotin (vitamin B7), resulting in low levels of bioavailable biotin, and clinical biotin deficiency.
Epidemiology
Profound deficiency (<10% of normal level) is estima...
Case
Brain metastases from lung cancer associated with metastasis to the pineal gland
Published
08 Oct 2023
80% complete
Annotated image
CT
Case
Brain metastasis and subacute hippocampal infarction
Published
11 Jun 2022
80% complete
MRI
Article
CEC syndrome
CEC syndrome, also known as Gobbi syndrome, refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1.
Epidemiology
Most c...
Case
Cella media index
Published
24 Jul 2013
45% complete
CT
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