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Coats' plus: A progressive familial syndrome of bilateral coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Author(s): Y. J. Crow, J. McMenamin, C. A. Haenggeli, D. M. Hadley, S. Tirupathi, E. P. Treacy, S. M. Zuberi, B. H. Browne, J. L. Tolmie, J. B. P. Stephenson

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.

Full version: Available here

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ISBN: 0174-304X
Publication Year: 2004
Periodical: Neuropediatrics
Periodical Number: 1
Volume: 35
Pages: 10-19
Author Address: