Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.
Am J Med Genet A
; 167A(11): 2777-9, 2015 Nov.
Article
em En
| MEDLINE
| ID: mdl-26174613
ABSTRACT
Alpha thalassemia-mental retardation, X-linked (ATR-X) syndrome is a rare genetic disorder with a variety of clinical manifestations. Gastrointestinal symptoms described in this syndrome include difficulties in feeding, regurgitation and vomiting which may lead to aspiration pneumonia, abdominal pain, distention, and constipation. We present a 19-year-old male diagnosed with ATR-X syndrome, who suffered from recurrent colonic volvulus that ultimately led to bowel necrosis with severe septic shock requiring emergent surgical intervention. During 1 year, the patient was readmitted four times due to poor oral intake, dehydration and abdominal distention. Investigation revealed partial small bowel volvulus which resolved with non-operative treatment. Small and large bowel volvulus are uncommon and life-threatening gastrointestinal manifestations of ATR-X patients, which may contribute to the common phenomenon of prolonged food refusal in these patients.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Talassemia alfa
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Deficiência Intelectual Ligada ao Cromossomo X
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Volvo Intestinal
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Obstrução Intestinal
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Child, preschool
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Humans
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Male
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article