Differential diagnosis - conditions seen with some frequency:
(1) meconium plug syndrome: the most common cause
(2) meconium ileus: often associated with cystic fibrosis
(3) anorectal malformation
(4) Hirschsprung's disease (aganglionic megacolon)
Differential diagnosis - rare conditions:
(5) small left colon syndrome
(6) hypoganglionosis
(7) neuronal intestinal dysplasia type A or B
(8) megacystitis-microcolon-intestinal hypoperistalsis syndrome
Imaging studies have aided the differential diagnosis.
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Imaging Findings
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Consider
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transition from distended to small colon
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Hirschsprung's disease, hypoganglionosis, small left colon syndrome, neuronal intestinal dysplasia type A
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megacolon
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neuronal intestinal dysplasia type B
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microcolon and megacystis
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megacystitis-microcolon-intestinal hypoperistalsis syndrome
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absent anus or fistula, malformations
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anorectal malformations
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ileus
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meconium ileus
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Additional studies that may be helpful:
(1) genetic testing for cystic fibrosis
(2) colon biopsy to evaluate ganglion cells
(3) anorectal manometry
