Document Detail

Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.
MedLine Citation:
PMID:  11511285     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Chronic Progressive External Ophthalmoplegia (CPEO) encompasses different conditions having in common a slowly progressive external and general ophthalmoplegia. The discovery of CPEO is suggestive of mitochondrial cytopathy, but this is not necessarily so.
CASE REPORT: We report here a case, presenting at age 9 months, characterized by bilateral blepharoptosis and partial third nerve oculomotor deficiency, with no nystagmus. Mitochondrial cytopathy was suspected on cranial MRI and confirmed by muscle biopsy. Enzyme studies revealed a defect on the complex I respiratory chain. This case is unique in that the symptoms completely resolved under a Ketogen diet.
C Speeg-Schatz; A de Saint-Martin; D Christmann
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Binocular vision & strabismus quarterly     Volume:  16     ISSN:  1088-6281     ISO Abbreviation:  Binocul Vis Strabismus Q     Publication Date:  2001  
Date Detail:
Created Date:  2001-08-20     Completed Date:  2001-09-06     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  9607281     Medline TA:  Binocul Vis Strabismus Q     Country:  United States    
Other Details:
Languages:  eng     Pagination:  187-90     Citation Subset:  IM    
Clinique Ophtalmologique, Universitaires de Strasbourg, Strasbourg, France.
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MeSH Terms
Blepharoptosis / diagnosis
Diagnosis, Differential
Magnetic Resonance Imaging
Mitochondrial Myopathies / congenital*,  diagnosis,  therapy
Nystagmus, Pathologic / diagnosis,  therapy
Oculomotor Nerve Diseases / diagnosis,  therapy
Ophthalmoplegia, Chronic Progressive External / congenital*,  diagnosis,  therapy
Erratum In:
Binocul Vis Strabismus Q 2002 Fall;17(3):174

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