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

Proteus syndrome: a case report.

S Pangkanon1, W Limpongsanurak, V Sangtawesin

  • 1Division of Medical Genetics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.

Journal of the Medical Association of Thailand = Chotmaihet Thangphaet
|September 19, 2001
PubMed
Summary

Proteus syndrome is a rare genetic disorder causing overgrowth. This case report details a Thai infant with typical Proteus syndrome features, including hemihypertrophy and subcutaneous tumors.

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

Detection of phenylketonuria by the newborn screening program in Thailand.

The Southeast Asian journal of tropical medicine and public health·2009
Same author

Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.

Journal of inherited metabolic disease·2008
Same author

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

Blood cells, molecules & diseases·2007
Same author

Oral ibuprofen prophylaxis for symptomatic patent ductus arteriosus of prematurity.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet·2006
Same author

Juvenile dermatomyositis in Thai children.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet·2002
Same author

Normal plasma free amino acid levels in Thai children.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet·2002

Area of Science:

  • Medical Genetics
  • Dermatology
  • Pediatrics

Background:

  • Proteus syndrome is a rare mosaic overgrowth disorder.
  • It presents with diverse and asymmetric congenital anomalies.
  • Genetic basis is linked to somatic activating mutations in the AKT1 gene.

Observation:

  • A one-day-old Thai male infant presented with macrosomia and left-sided hemihypertrophy.
  • Clinical manifestations included macrodactyly, plantar hyperplasia, a chest wall mass, and a port-wine stain.
  • These findings are consistent with Proteus syndrome.

Findings:

  • The infant exhibited key features of Proteus syndrome, including asymmetric overgrowth and cutaneous findings.
  • Diagnostic criteria for Proteus syndrome were met.
  • Differential diagnosis was considered for similar overgrowth syndromes.

Implications:

  • Early recognition and diagnosis of Proteus syndrome are crucial for appropriate management.
  • This case highlights the phenotypic variability and diagnostic challenges of Proteus syndrome.
  • Further research into the molecular mechanisms and therapeutic strategies for Proteus syndrome is warranted.

Related Experiment Videos