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A premature infant with Costello syndrome due to a rare G13C HRAS mutation

Maria Piccione1, Ettore Piro, Maria Grazia Pomponi

  • 1U.O. Pediatria e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo, Palermo, Italy. piccionemaria@libero.it

American Journal of Medical Genetics. Part A
|February 13, 2009
PubMed

Insights

Costello syndrome, caused by HRAS gene mutations, presents challenges in early diagnosis, especially in preterm infants. This report details a rare G13C HRAS mutation case and its first-year evolution.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Medicine
  • Clinical Case Studies

Background:

  • Costello syndrome is a rare genetic disorder linked to mutations in the HRAS proto-oncogene.
  • Key early features include fetal/neonatal macrosomia and later growth impairment due to feeding difficulties.

Observation:

  • This report describes a premature male infant diagnosed with Costello syndrome.
  • The patient presented with a rare G13C HRAS mutation.

Findings:

  • The study documents the clinical features and developmental progression of the infant during the first year of life.
  • It highlights diagnostic challenges at birth, particularly in very preterm infants.

Implications:

  • Early recognition of Costello syndrome is crucial, even with atypical presentations in preterm infants.
  • Understanding rare HRAS mutations aids in diagnosing and managing Costello syndrome.
  • This case underscores the importance of considering feeding difficulties and failure to thrive in preterm infants for potential genetic diagnoses.

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