Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome.
OBJECTIVE
Mowat-Wilson syndrome (MWS) is a developmental disorder presenting with mental retardation, delayed motor development, and a wide spectrum of clinical features. Hirschsprung's disease (HD) is associated in almost 50% of cases. This report aims to analyze the course of HD and to evaluate the clinical outcomes of these patients.


METHODS
Between 1997 and 2007, 110 patients presenting with HD were diagnosed and managed in our institution. Five of them presented the association of HD and MWS. Their records were reviewed retrospectively.


RESULTS
All of the 5 patients have a genetic disorder specific of MWS (nonsense mutation or deletion on SIP1 gene, locus 2q22). Two patients underwent transanal endorectal pull-through procedure for classic rectosigmoid HD. Three patients were operated on for total colonic aganglionosis using Duhamel procedure. The median follow-up was 4 (range, 0.3-7) years. Only one patient is doing well (rectosigmoid HD). Two patients have a stoma diversion for severe motility disorders. Of the 3 total colonic aganglionosis, one still has repeated episodes of obstruction requiring total parenteral nutrition (TPN). The 2 others still have repeated episodes of enterocolitis. All patients required a prolonged TPN (32.5 months in average).


CONCLUSIONS
Hirschsprung's disease associated with MWS is a severe condition. Even in case of short segment HD, patients can present motility disorder requiring a prolonged TPN. Physician and surgeon should be aware about the evolution of this rare condition.
Bonnard
Arnaud
A
Department of Pediatric Surgery, Robert Debre Hospital and Paris VII University, EA3102, APHP, 75019 Paris, France.
Zeidan
Smart
S
Degas
Vanessa
V
Viala
Jérome
J
Baumann
Clarisse
C
Berrebi
Dominique
D
Perrusson
Odile
O
El Ghoneimi
Alaa
A
D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D006257:Head / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000150:complications* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010289:Parenteral Nutrition, Total; D012189:Retrospective Studies; D013577:Syndrome