| Deficiency in complex IV (cytochrome c oxidase) of the respiratory chain, presenting as a leukodystrophy in two siblings with Leigh syndrome. | |
| | |
MedLine Citation:
|
PMID: 7625545 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Two siblings with Leigh syndrome presenting at the age of 6 months with clinical and radiological features suggestive of a leukodystrophy are reported. A deficiency in complex IV of the respiratory chain (cytochrome c oxidase) was demonstrated in muscle mitochondria of both patients. To our knowledge, this is the first familial case of Leigh syndrome due to cytochrome c oxidase deficiency, presenting clinically and radiologically with signs of a leukodystrophic process. We suggest that respiratory chain enzyme defects should be considered in the differential diagnosis of cases suggestive of a leukodystrophy. |
| | |
Authors:
|
D I Zafeiriou; B Koletzko; W Mueller-Felber; I Paetzke; G Kueffer; M Jensen |
Related Documents
:
|
17673975 - High incidence of acute lung injury in children with down syndrome. 2371975 - Thrombotic thrombocytopenic purpura as a complicating factor in a case of polymyositis ... 14617585 - Transfusion-related acute lung injury or acute chest syndrome of sickle cell disease? -... 8787435 - Systemic complications associated with bacterial tracheitis. 18053615 - Central leptin insufficiency syndrome: an interactive etiology for obesity, metabolic a... 21879995 - Grammar disruption in a patient with neuro-sweet syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Brain & development Volume: 17 ISSN: 0387-7604 ISO Abbreviation: Brain Dev. Publication Date: 1995 Mar-Apr |
Date Detail:
|
Created Date: 1995-08-31 Completed Date: 1995-08-31 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: NETHERLANDS |
Other Details:
|
Languages: eng Pagination: 117-21 Citation Subset: IM |
Affiliation:
|
Kinderpoliklinik, Ludwig-Maximilian-University of Munich, Germany. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Brain
/
pathology*,
radiography Cytochrome-c Oxidase Deficiency* Diagnosis, Differential Female Humans Infant Leigh Disease / diagnosis*, genetics Leukodystrophy, Metachromatic / diagnosis* Magnetic Resonance Imaging Male Muscle, Skeletal / enzymology, pathology Sural Nerve / pathology Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Hyperekplexia, a cause of neonatal apnea: a case report.
Next Document: Epidermal nevus syndrome with isolated enlargement of one temporal lobe: a case report.