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Gastrointestinal phenotype of ATR-X syndrome

Giuseppe Martucciello1, Laura Lombardi, Salvatore Savasta

  • 1Scientific Institute (IRCCS) Policlinico San Matteo, University of Genoa, Pavia, Italy.

American Journal of Medical Genetics. Part A
|May 12, 2006
PubMed

Insights

X-linked alpha thalassemia mental retardation (ATR-X) syndrome often causes severe gastrointestinal issues, including feeding difficulties and constipation. This review highlights gastric pseudo-volvulus and ultra-short Hirschsprung disease as potential underlying causes in affected children.

Area of Science:

  • Genetics and rare diseases
  • Pediatric gastroenterology
  • Developmental disorders

Background:

  • X-linked alpha thalassemia mental retardation (ATR-X) syndrome presents with intellectual disability, distinctive facial features, genital abnormalities, and alpha thalassemia.
  • Gastrointestinal (GI) manifestations are common in ATR-X syndrome, often leading to significant feeding problems and constipation.
  • These GI issues are frequently underinvestigated despite their impact on patient well-being and potential for serious complications.

Observation:

  • This report reviews the GI phenotype in 128 cases of ATR-X syndrome.
  • Parental reports indicate frequent feeding refusal and distress, suspected to be GI-related.
  • Aspiration of vomitus and secondary pneumonia have been documented as causes of early childhood mortality.

Findings:

  • Gastric pseudo-volvulus, a malpositioning of the stomach due to abnormal peritoneal ligaments, was identified as the cause of regurgitation in two siblings.
  • Ultra-short Hirschsprung disease with colonic hypoganglionosis was also identified.
  • These conditions may contribute to the severe constipation observed in children with ATR-X syndrome.

Implications:

  • Understanding the specific GI abnormalities in ATR-X syndrome is crucial for accurate diagnosis and management.
  • Identifying conditions like gastric pseudo-volvulus and Hirschsprung disease can guide targeted interventions.
  • Improved recognition and investigation of GI symptoms may prevent severe complications and improve outcomes for children with ATR-X syndrome.

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