Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome.
Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.
Cherian
Mathew P
MP
Saudi Aramco Medical Services Organization, PO Box 1356 Ras Tanura 31311, Saudi Arabia. mathew.cherian@aramco.com
Al-Sanna'a
Nouriya A
NA
Al-Mulhim
Sa'ad I
SI
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000601:surgery; D020788:Bardet-Biedl Syndrome / Q000175:diagnosis* / Q000235:genetics*; D001466:Barium Sulfate; D004733:Enema / Q000379:methods; D017809:Fatal Outcome; D005260:Female; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics* / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D007813:Laparotomy / Q000379:methods; D008297:Male; D011860:Radiography, Abdominal / Q000379:methods; D018570:Risk Assessment; D012529:Saudi Arabia; D035781:Siblings; D016896:Treatment Outcome; D018608:Ultrasonography, Doppler
D001466:Barium Sulfate