| Autor: |
Bindoff LA; Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway. laurence.Bindoff@nevro.uib.no, Mjellem N, Sommerfelt K, Krossnes BK, Roberts F, Krohn J, Tranheim RS, Haggerty ID |
| Jazyk: |
angličtina |
| Zdroj: |
Neuromuscular disorders : NMD [Neuromuscul Disord] 2006 Oct; Vol. 16 (9-10), pp. 559-63. Date of Electronic Publication: 2006 Aug 28. |
| DOI: |
10.1016/j.nmd.2006.06.012 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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