Search results for “GLUTARIC ACIDURIA TYPE I”

11 results found
Article

Glutaric aciduria type 1

Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic. Imaging, therefore, has an important role to play as the MRI features can be characteristic. ...
Case

Glutaric aciduria type I

 Diagnosis almost certain
Dr Mohammad A. ElBeialy
Published 11 Oct 2013
77% complete
MRI
Case

Glutaric aciduria type 1

 Diagnosis almost certain
Dr Elena Filimonova
Published 27 Sep 2021
80% complete
MRI
Case

Glutaric aciduria type 1

 Diagnosis almost certain
Dr Aditya Shetty
Published 10 Apr 2014
77% complete
MRI
Case

Glutaric aciduria type 1

 Diagnosis almost certain
Dr Yune Kwong
Published 24 Dec 2012
74% complete
MRI
Case

Glutaric aciduria type 1

 Diagnosis possible
Dr Kanwal Laique
Published 16 Mar 2022
62% complete
MRI
Article

Central nervous system curriculum

The central nervous system curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core central nervous system knowledge. Definition  Topics pertaining to the intracranial content (brain, pituitary, dura, intracranial vasculatures). There will be...
Article

Cerebral restricted diffusion

The following intracranial lesions may show a high signal on DWI images, with a corresponding low signal on ADC images. lesions with intense high signal acute ischemia meningiomas abscess empyema cytotoxic cerebral edema chordoma intracranial epidermoid cyst Creutzfeldt-Jakob disease 6 ...
Article

Subdural hemorrhage

Subdural hemorrhage (SDH) (also commonly called a subdural hematoma) is a collection of blood accumulating in the subdural space, the potential space between the dura and arachnoid mater of the meninges around the brain. Subdural hemorrhage can happen in any age group, is mainly due to head trau...
Article

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a rare organic aciduria but has characteristic MRI findings especially in the early stages 1. This can allow for early diagnosis, often prior to biochemical investigations. Epidemiology As it is inherited in an autosomal recessive fashion, consanguineous marriag...
Case

Benign enlargement of the subarachnoid spaces (BESS)

 Diagnosis certain
Dr Salvo Fedele
Published 09 Jan 2020
98% complete
MRIDiagram

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