[Progressive External Ophthalmoplegia (authors transl)].
The case of a 16-year-old boy with progressive external ophthalmoplegia ("Ophthalmoplegia plus") is reported. Clinical symptoms consisted of complete external ophthalmoplegia, ptosis, short stature, atrophy and weakness of skeletal muscles, and elevated csf protein. Abnormal mitochondria were found by electron microscopy in scattered atrophic fibres of the muscle biopsy. The syndrome and it's relevance for paediatric differential diagnosis is discussed.
D000293:Adolescent; D001706:Biopsy; D001763:Blepharoptosis / Q000150:complications; D002556:Cerebrospinal Fluid Proteins / Q000032:analysis; D004392:Dwarfism / Q000150:complications; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications; D009886:Ophthalmoplegia / Q000134:cerebrospinal fluid / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
D002556:Cerebrospinal Fluid Proteins
Die progressive externe Ophthalmoplegie.