205 results found
Article
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare inherited autosomal recessive leukodystrophy characterized by slowly progressive pyramidal, cerebellar, and dorsal column dysfunction.
Epidemiology
Although considered rare, the exact prevalen...
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...
Article
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...
Article
Rasmussen encephalitis
Rasmussen encephalitis, also known as chronic focal encephalitis, is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere.
It is not to be confused with a Rasmussen aneurysm.
Epidemiology
Most cases (85% of cases) occur in children under the age of 10 years...
Case
Normal pressure hydrocephalus
Published
13 Feb 2015
95% complete
Annotated image
MRI
Article
Medical abbreviations and acronyms (P)
This article contains a list of commonly used medical abbreviations and acronyms that start with the letter P and may be encountered in medicine and radiology (please keep the main list and any sublists in alphabetic order).
A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R ...
Case
Neurosyphilis
Published
18 Mar 2024
77% complete
MRI
Case
Intracranial hypotension: iatrogenic
Published
14 Feb 2016
100% complete
MRI
CT
Case
Cerebral vasculitis
Published
02 Apr 2017
74% complete
MRI
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...
Case
Vein of Galen malformation
Published
02 Nov 2015
92% complete
MRI
Case
Subdural hemorrhage
Published
06 Nov 2020
95% complete
CT
Case
Artery of Percheron territory old infarction
Published
03 Feb 2024
95% complete
MRI
Case
Glioblastoma IDH wild-type (radiation induced)
Published
18 Mar 2015
95% complete
MRI
Pathology
Case
Subdural hygroma
Published
27 Dec 2012
92% complete
MRI
Case
Solvent abuse
Published
02 Apr 2012
92% complete
MRI
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 ...
Case
Viral encephalitis- sequelae
Published
11 Apr 2021
81% complete
MRI
CT
Case
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Published
06 Mar 2022
81% complete
CT
MRI
Case
Brain metastases from lung cancer associated with metastasis to the pineal gland
Published
08 Oct 2023
80% complete
Annotated image
CT
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