Neuropediatrics 2004; 35(1): 10-19
DOI: 10.1055/s-2003-43552
Original Article

Georg Thieme Verlag Stuttgart · New York

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

Y. J. Crow 1 , 2 , J. McMenamin 3 , C. A. Haenggeli 4 , D. M. Hadley 5 , S. Tirupathi 6 , E. P. Treacy 6 , S. M. Zuberi 7 , B. H. Browne 8 , J. L. Tolmie 9 , J. B. P. Stephenson 7
  • 1Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds, UK
  • 2Department of Clinical Genetics, St James's University Hospital, Leeds, UK
  • 3Our Lady's Hospital for Sick Children, Crumlin, Dublin, Eire
  • 4Department of Child Neurology, Hôpital des Enfants, Geneva, Switzerland
  • 5Neuroradiology Department, Institute of Neurological Sciences, Southern General Hospital, Glasgow, UK
  • 6Department of Paediatrics, The Children's University Hospital, Dublin, Eire
  • 7Fraser of Allander Neurosciences Unit, Royal Hospital for Sick Children, Glasgow, UK
  • 8Eye Department, Royal Infirmary, Glasgow, UK
  • 9Department of Medical Genetics, Royal Hospital for Sick Children, Glasgow, UK
Further Information

Publication History

Received: May 12, 2003

Accepted after Revision: October 17, 2003

Publication Date:
04 March 2004 (online)

Abstract

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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Prof. J. B. P. Stephenson

Fraser of Allander Neurosciences Unit
Royal Hospital for Sick Children

Glasgow G3 8SJ

United Kingdom

Email: john@jbpstephenson.com