Muscle involvement in the cerebro-oculo-facio-skeletal syndrome.
We report a 14-year-old male, born to consanguineous parents, with microcephaly, intracranial calcification, severe mental retardation, cataracts, optic atrophy, pigmentary retinopathy, contractures, scoliosis, and failure to thrive. His brain imaging revealed extensive basal ganglia calcifications. He has normal ultraviolet sensitivity. These features are consistent with the autosomal recessive cerebro-oculo-facio-skeletal syndrome. In addition, he has severe muscle weakness with end-stage muscle changes on biopsy. There have been few reports of muscle involvement in cerebro-oculo-facio-skeletal syndrome, and this is the first time it has been described in a cerebro-oculo-facio-skeletal patient with normal ultraviolet sensitivity. This case extends the extensive phenotypic similarities between cerebro-oculo-facio-skeletal syndrome patients with and without abnormal ultraviolet sensitivity, and highlights the cerebro-oculo-facio-skeletal syndrome in the differential diagnosis of congenital muscular dystrophies.
Longman
Cheryl
C
Dubowitz Neuromuscular Centre, Hammersmith Campus, Imperial College, London, W12 ONN, UK.
Sewry
Caroline A
CA
Muntoni
Francesco
F
D000293:Adolescent; D003057:Cockayne Syndrome / Q000150:complications / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications / Q000473:pathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000473:pathology*