Naslov
Nevo syndrome

Autori
Dumić, Miroslav ; Vukelić, Dalibor ; Plavšić, Vesna ; Cviko, Aida ; Sokolić, Lea ; Filipović-Grčić, Boris

Izvornik
American journal of medical genetics (0148-7299) 76 (1998), 1; 67-70

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
overgrowth; insulin resistance; congenital edema; contractures; hypotonia

Sažetak
We report on a patient with Nevo syndrome manifesting intrauterine and postpartum overgrowth, accelerated osseous matura-tion, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypoto-nia, adema, contractures of the hands and feet, a single a transverse palmar crease, and tapering digits. After meningococcal sepsis at age 6 months, he remained decer-ebrate. Thereafter, overgrowth and espe-cially weight gain were extremely acceler-ated until his death at age 18 months, at which time his height was 103 cm and his weight was 23 kg. In addition to low plasma concentrations of growth hormone and in-sulin-like growth factor, severe insulin re-sistance was observed. It is presumed that a selective defect in insulin-stimulated glu-cose uptake, with preservation of anabolic effect, was one of the causes of his "over-growth without growth hormone," at least in the last 12 months of life after severe brain damage. Am. J. Med. Genet. 76:67-70, 1998. 1998 Wiley-Liss, Inc.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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