Tuberous sclerosis presenting as diaphragmatic hernia in a newborn.
A case of tuberous sclerosis in a preterm newborn baby is described, in whom there were also multiple rhabdomyomas of heart, diaphragmatic hernia, giant-cell astrocytoma of lateral ventricle and malrotation of the intestine. This is the first report of an association of tuberous sclerosis with diaphragmatic hernia. The presence of multiple congenital malformations supports the theory that tuberous sclerosis represents multi-germ layer dysplasia.
D001254:Astrocytoma / Q000473:pathology; D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000473:pathology; D006338:Heart Neoplasms / Q000473:pathology; D006548:Hernia, Diaphragmatic / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007235:Infant, Premature, Diseases / Q000175:diagnosis*; D008297:Male; D009206:Myocardium / Q000473:pathology; D012207:Rhabdomyoma / Q000473:pathology; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000473:pathology