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

In 1988, researchers reported on two sisters with bilateral Coats' disease and other symptoms including sparse hair and dystrophic nails. The update from 2004 on the same family revealed additional skeletal defects such as abnormal bone marrow, osteopenia, sclerosis, and a propensity for fractures. The family also exhibited a mixed cerebellar and extrapyramidal movement disorder, occasional epileptic seizures, leukodystrophic changes, and postnatal growth failure. The update also introduced two new cases from Ireland and Switzerland with the same disorder, now termed Coats' plus. The paper reviewed literature where similar cases were often described as a "new" syndrome and suggested that the phenotypic overlap with dyskeratosis congenita might offer insight into the molecular etiology of this multisystem disorder.