Megacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance

SUMMARY We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases, together with three other published reports of affected sibs, confirm the autosomal recessive inheritance of the syndrome. Berdon et all first described what they called the megacystis-microcolon-intestinal hypoperistalsis syn-drome in five female infants, two of whom were sisters. All the cases had marked dilatation of the bladder and some had hydronephrosis and the external appearance of a 'prune belly'. The infants also had microcolons and dilated small bowels, but with normal ganglion cells. Early death was a feature in all cases. Since then, several other cases have been described, in both sexes, although with a female preponderance of 4:1.2-14 Three possibly affected sib pairs have been described. ' " 12 The purpose of this paper is to describe two female sibs with the disorder, who are the offspring of first cousin parents. narrow and the abdomen was enormously dis-tended, with deficient musculature and a small paraumbilical hernia. Urine could be expressed from the urethra by moderate pressure on the fundus of the bladder. The genitalia were female, Case reports The parents of the affected infants were first cousin gypsies. In addition to the two affected sibs de-scribed, there was one other healthy female sib. CASE 1 The proband was born at term and died almost immediately (figs 1 and 2). Birth weight was 3 1 kg. Oligohydramnios was not noted during the preg-nancy. The forehead was broad and there was mild hypertelorism with a broad, prominent nasal bridge and anteverted nostrils. The mandible was extre-mely small and there was a U-shaped cleft palate. The ears were low set and posteriorly rotated with a deficient superior part of the helix. The chest was Received for publication 25 Maty 1985. Revised version accepted for publication 12 August 1985