Nevo syndrome

We report on a patient with Nevo syndrome manifesting intrauterine and postpartum overgrowth, accelerated osseous maturation, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypotonia, adema, contractures of the hands and feet, a sin...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 76; no. 1; p. 67
Main Authors Dumić, M, Vukelić, D, Plavsić, V, Cviko, A, Sokolić, L, Filipović-Grcić, B
Format Journal Article
LanguageEnglish
Published United States 26.02.1998
Subjects
Blood Glucose - metabolism
Edema - genetics
Growth Disorders - genetics
Growth Disorders - metabolism
Growth Disorders - pathology
Human Growth Hormone - blood
Humans
Infant
Insulin Resistance
Islets of Langerhans - pathology
Male
Muscle Hypotonia - genetics
Somatomedins - metabolism
Syndrome
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Summary:We report on a patient with Nevo syndrome manifesting intrauterine and postpartum overgrowth, accelerated osseous maturation, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypotonia, 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 decerebrate. Thereafter, overgrowth and especially weight gain were extremely accelerated 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 insulin-like growth factor, severe insulin resistance was observed. It is presumed that a selective defect in insulin-stimulated glucose uptake, with preservation of anabolic effect, was one of the causes of his "overgrowth without growth hormone," at least in the last 12 months of life after severe brain damage.
ISSN:0148-7299
1096-8628
DOI:10.1002/(SICI)1096-8628(19980226)76:1<67::AID-AJMG12>3.0.CO;2-N