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Before and after - Nutritional transformation of dysmorphism in a case of Costello syndrome

Annie T G Chiu1, Lixing Zhu2, Gary T K Mok1

  • 1Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.

European Journal of Medical Genetics
|October 6, 2016
PubMed

Insights

Costello syndrome, a RASopathy, can present with severe failure to thrive. Nutritional support improved facial features, aiding diagnosis of this HRAS-related disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Medicine

Background:

  • Costello syndrome is a RASopathy linked to the HRAS gene, presenting with prenatal overgrowth, postnatal failure to thrive, characteristic facial features, and multisystem issues like intellectual disability and cardiomyopathy.
  • Early diagnosis is crucial for managing the complex health needs associated with Costello syndrome.

Observation:

  • A 7-month-old infant with severe failure to thrive initially showed subtle facial dysmorphisms, delaying clinical suspicion of Costello syndrome.
  • Dysmorphic features became more apparent after nutritional status was optimized.

Findings:

  • Exome sequencing confirmed the molecular diagnosis of Costello syndrome.
  • The case demonstrates that severe failure to thrive can mask the characteristic facial features of Costello syndrome.

Implications:

  • Nutritional optimization can unmask or enhance the recognition of dysmorphic features in Costello syndrome.
  • Serial evaluations of dysmorphic features are critical for diagnosing challenging cases of Costello syndrome, particularly in infants with severe failure to thrive.

Keywords:
Costello syndromeDysmorphismFailure to thriveNutritional status

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