Megacystis-microcolon-intestinal hypoperistalsis syndrome: a case report.
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital disorder characterized by a dilated, non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract, which is considered lethal. About 90 patients have been reported, predominantly female. We present the case of a female newborn with MMIHS in whom antenatal ultrasound was suggestive for the diagnosis, which was confirmed after delivery. Diagnostic features by antenatal ultrasound are described.
Verbruggen
S C A T
SC
Department of Pediatrics, Erasmus MC Sophia Children's Hospital, Rotterdam, The Netherlands.
Wijnen
R M H
RM
van den Berg
P
P
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000000981:diagnostic imaging; D003106:Colon / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010528:Peristalsis; D013577:Syndrome; D014463:Ultrasonography; D001743:Urinary Bladder / Q000002:abnormalities* / Q000000981:diagnostic imaging