Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Nevo syndrome

M Dumić1, D Vukelić, V Plavsić

  • 1Department of Pediatrics, University Hospital, Zagreb, Croatia.

American Journal of Medical Genetics
|March 21, 1998
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Association of HLA alleles and haplotypes with CYP21A2 gene p. V282L mutation in the Croatian population.

HLA·2016
Same author

Low bone mineral density for age/osteoporosis in triple A syndrome-an overlooked symptom of unexplained etiology.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2015
Same author

4''-O-(omega-Quinolylamino-alkylamino)propionyl derivatives of selected macrolides with the activity against the key erythromycin resistant respiratory pathogens.

Bioorganic & medicinal chemistry·2010
Same author

Characteristics of the craniofacial complex in Turner syndrome.

Archives of oral biology·2009
Same author

Pregnancy outcomes in women with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Journal of pediatric endocrinology & metabolism : JPEM·2005
Same author

Alicyclic beta-amino acids in Medicinal Chemistry.

Amino acids·2005
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Defects of blastogenesis.

American journal of medical genetics·2002
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
See all related articles

Nevo syndrome causes significant overgrowth and developmental delays. A patient exhibited severe insulin resistance, contributing to accelerated weight gain despite low growth hormone levels.

Area of Science:

  • Genetics and Developmental Biology
  • Endocrinology
  • Pediatric Medicine

Background:

  • Nevo syndrome is a rare genetic disorder characterized by overgrowth and developmental abnormalities.
  • Understanding the metabolic underpinnings of Nevo syndrome is crucial for patient management.

Observation:

  • A patient with Nevo syndrome presented with intrauterine and postpartum overgrowth, dysmorphic features, hypotonia, and developmental delays.
  • Following meningococcal sepsis, the patient experienced accelerated weight gain and extreme overgrowth.
  • Clinical examination revealed low plasma concentrations of growth hormone and insulin-like growth factor, alongside severe insulin resistance.

Findings:

  • The patient exhibited severe insulin resistance, suggesting a potential defect in insulin-stimulated glucose uptake.

Related Experiment Videos

  • This metabolic derangement may explain the "overgrowth without growth hormone" phenotype, particularly after brain injury.
  • Accelerated osseous maturation and significant weight gain were key features of the accelerated growth.

    • Implications:

    • This case highlights the complex interplay between genetic factors, hormonal regulation, and metabolic pathways in Nevo syndrome.
    • Further research into insulin signaling defects could offer novel therapeutic targets for managing overgrowth conditions.
    • Understanding these mechanisms is vital for improving the long-term prognosis and quality of life for affected individuals.