title: Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.
abstract: 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.
authors.affiliation: Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway. laurence.Bindoff@nevro.uib.no
authors.forename: Laurence A
authors.initials: LA
authors.lastname: Bindoff
authors.forename: Nanette
authors.initials: N
authors.lastname: Mjellem
authors.forename: Kristian
authors.initials: K
authors.lastname: Sommerfelt
authors.forename: Bård K
authors.initials: BK
authors.lastname: Krossnes
authors.forename: Fiona
authors.initials: F
authors.lastname: Roberts
authors.forename: Jørgen
authors.initials: J
authors.lastname: Krohn
authors.forename: Randi Skarpaas
authors.initials: RS
authors.lastname: Tranheim
authors.forename: Irene D
authors.initials: ID
authors.lastname: Haggerty
mesh_terms: 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