期刊
NEUROPEDIATRICS
卷 35, 期 1, 页码 10-19出版社
GEORG THIEME VERLAG KG
DOI: 10.1055/s-2003-43552
关键词
Coats' disease; intracranial calcification; leukoencephalopathy; bone marrow; dyskeratosis congenita
In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now provide an update on this family documenting the occurrence of skeletal defects comprising abnormal bone marrow, osteopenia, and sclerosis with a tendency to fractures, a mixed cerebellar and extrapyramidal movement disorder, infrequent epileptic seizures, leukodystrophic changes, and postnatal growth failure. Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. Since our original publication a number of other authors have described, frequently as a new syndrome, cases with a variable combination of the same features observed in our patients. We review this literature and suggest that the phenotypic overlap with dyskeratosis congenita. may provide a clue to the molecular aetiology of this multisystem disorder.
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