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

Autor: B H Browne, Charles-Antoine Haenggeli, S Tirupathi, Sameer M. Zuberi, J. B P Stephenson, Eileen P. Treacy, Yanick J. Crow, D M Hadley, J McMenamin, John Tolmie
Rok vydání: 2004
Předmět:
Male
Pathology
medicine.medical_specialty
Cerebral calcification
Growth Disorders/complications
Leukoencephalopathy
Progressive Multifocal/complications/pathology/radiography
Nails
Malformed
Dyskeratosis Congenita/complications/pathology
Dyskeratosis Congenita
Leukoencephalopathy
Bone Marrow
Alopecia/complications
Humans
Medicine
Coats' disease
Child
Growth Disorders
Bone Marrow/abnormalities
ddc:618
business.industry
Leukoencephalopathy
Progressive Multifocal
Brain
Calcinosis
Alopecia
General Medicine
Calcinosis/complications/pathology/radiography
medicine.disease
Magnetic Resonance Imaging
Brain/pathology/radiography
Osteopenia
medicine.anatomical_structure
Pediatrics
Perinatology and Child Health
Etiology
Female
Neurology (clinical)
Bone marrow
Tomography
X-Ray Computed
business
Dyskeratosis congenita
Calcification
Zdroj: Neuropediatrics, Vol. 35, No 1 (2004) pp. 10-9
ISSN: 1439-1899
0174-304X
DOI: 10.1055/s-2003-43552
Popis: 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.
Databáze: OpenAIRE
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