Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia.
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.


METHODS
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.
Speeg-Schatz
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C
Clinique Ophtalmologique, Universitaires de Strasbourg, Strasbourg, France. claude-speeg@chru-strasbourg.fr
de Saint-Martin
A
A
Christmann
D
D
D001763:Blepharoptosis / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017240:Mitochondrial Myopathies / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000628:therapy; D015840:Oculomotor Nerve Diseases / Q000175:diagnosis / Q000628:therapy; D017246:Ophthalmoplegia, Chronic Progressive External / Q000151:congenital* / Q000175:diagnosis / Q000628:therapy