Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.
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.
Bindoff
Laurence A
LA
Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway. laurence.Bindoff@nevro.uib.no
Mjellem
Nanette
N
Sommerfelt
Kristian
K
Krossnes
Bård K
BK
Roberts
Fiona
F
Krohn
Jørgen
J
Tranheim
Randi Skarpaas
RS
Haggerty
Irene D
ID
D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004827:Epilepsy / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D015785:Eye Diseases, Hereditary / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005901:Glaucoma / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D018908:Muscle Weakness / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012164:Retinal Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology