Cerebral gigantism associated with jaw cyst basal cell naevoid syndrome in two families.
We report 9 subjects from 2 families with the syndrome of cerebral gigantism, seven of the patients also had jaw cyst basal cell naevoid syndrome. Neurological, radiological, somatic and biochemical features of this hitherto unreported association are described. Neurological symptoms included mild hydrocephalus, ventricular malformation, cerebellar syndrome, intracranial calcification, oculomotor disturbances, EEG abnormalities and rarely, mild peripheral nervous disorders. A disturbance of calcium metabolism appears to be a prominent feature of the genetically determined nonprogressive syndrome.
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000235:genetics*; D001845:Bone Cysts / Q000235:genetics*; D002280:Basal Cell Carcinoma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007573:Jaw Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged