Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in siblings: case report and review of the literature.
OBJECTIVE
Report of MMIHS in siblings with emphasis on diagnostic aspects in antenatal scanning and genetics.


METHODS
Two case reports and review of the literature


RESULTS
The firstborn child of this family was a female infant with a postnatal diagnosis of MMIHS. In the consecutive pregnancy frequent antenatal scans were performed, which showed normal fetal anatomy until 19 weeks' gestation. The pregnancy was carried on and at 36 weeks' gestation dilatation of the renal collecting system and dilated loops of bowel were seen, suggestive of MMIHS.


CONCLUSIONS
Prenatal diagnosis of MMIHS remains difficult. Further research into the genetics of this condition is necessary and would be an important tool in counselling parents with an affected child in view of the chances having an affected child at subsequent pregnancies. A multi-centre collection of a genetic pool from parents may be helpful for future research.
Köhler
M
M
Department of Paediatric Surgery, Starship Children's Hospital, Auckland, New Zealand.
Pease
P W B
PW
Upadhyay
V
V
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D003106:Colon / Q000002:abnormalities*; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007418:Intestinal Pseudo-Obstruction / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D001743:Urinary Bladder / Q000002:abnormalities*