Gastrointestinal phenotype of ATR-X syndrome.

Abstract

X-linked alpha thalassemia mental retardation (ATR-X) syndrome is associated with profound developmental delay, facial dysmorphism, genital abnormalities, and alpha thalassemia. Patients with ATR-X syndrome frequently present with gastrointestinal problems, in particular feeding difficulties, regurgitation and vomiting, abdominal pain, distension, and chronic constipation. Parental reports of prolonged food refusal and distress in these children are common and although these episodes are suspected to be gastro-intestinal in origin they are rarely investigated. Death in early childhood from aspiration of vomitus or from pneumonia presumed to be secondary to aspiration has been recorded in a number of ATR-X cases. In this report we review the gastrointestinal phenotype of ATR-X syndrome in 128 cases. We also demonstrate that in two siblings, regurgitation was secondary to gastric pseudo-volvulus, a condition in which the stomach does not have a normal system of peritoneal ligaments and changes position with possible torsion around itself. Furthermore, ultra-short Hirschsprung disease with colonic hypoganglionosis was shown and this may contribute to the severe constipation affecting these children.

• Authors: Giuseppe Martucciello, Laura Lombardi, Salvatore Savasta, Richard J Gibbons
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 11 Pg. 1172-6 (Jun 01 2006) ISSN: 1552-4825 [Print] United States
• PMID: 16688741 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2006 Wiley-Liss, Inc.

Chemical References

• Nuclear Proteins
• DNA Helicases
• ATRX protein, human
• X-linked Nuclear Protein

Topics

• Child, Preschool
• Constipation (genetics, pathology)
• DNA Helicases (genetics)
• Diseases in Twins (genetics, pathology)
• Gastrointestinal Diseases (complications, genetics, pathology)
• Humans
• Male
• Mental Retardation, X-Linked (complications, genetics, pathology)
• Mutation
• Nuclear Proteins (genetics)
• Phenotype
• Syndrome
• X-linked Nuclear Protein
• alpha-Thalassemia (complications, genetics, pathology)