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[Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases].

作者信息

Guyot A, Jouk P S, Andrini P, Rossignol A M, Joannard A, Beaudoing A

出版信息

Pediatrie. 1985 Dec;40(8):633-8.

PMID:3914632
Abstract

A cardiac murmur was found in a newborn, after 12 hours of life. It was related to an intracardiac tumor, and we made the diagnosis of tuberous sclerosis. The same diagnosis was made in another patient, with a tumor diagnosed by obstetrical echography. In these two cases, seizures occurred rapidly during the evolution. In one case, the heredity was dominant, in the other one, it was a "de novo" mutation. It is unusual to diagnose tuberous sclerosis during the neonatal period, so we report these two cases.

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