RESUMO
Children with muscular diseases constitute an important group in paediatric neurology. Some of the conditions are very serious and require extensive interdisciplinary treatment and facilitation. There is some degree of optimism regarding the possibility of causal treatment in some of the conditions.
Assuntos
Distrofias Musculares , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Distrofias Musculares/congênito , Distrofias Musculares/diagnóstico , Distrofias Musculares/terapia , Miastenia Gravis/diagnóstico , Miastenia Gravis/terapia , Síndromes Miastênicas Congênitas/diagnóstico , Síndromes Miastênicas Congênitas/terapia , Miopatias Congênitas Estruturais/diagnóstico , Miopatias Congênitas Estruturais/terapia , Medula Espinal/anatomia & histologia , Medula Espinal/fisiopatologiaRESUMO
We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom Coats' disease, deafness, mental retardation and possible epilepsy were the presenting features. The children have a 4q35 deletion giving a small residual repeat fragment that they have inherited from their father who is a mosaic. Fundal changes consistent with bilateral Coats' disease were found in both children. The rapid development of neovascular glaucoma necessitated removal of an eye from one child that on pathological examination showed the classical features of Coats' disease. Cryotherapy was successful in maintaining sight in the other affected eyes.
