Currently, infant is totally dependent on parenteral nutrition. Although she continues on cisapride therapy, there has been no detectable improvement in her condition. It is a rare neonatal functional intestinal syndrome of unknown etiology characterized by lack of peristalsis in the presence of ganglion cells. Other features include malrotation, microcolon, microileum, non-obstructive bladder dilatation, and bilateral hydronephrosis. Abdominal musculature is very thin but always present.
Most infants are term and borderline small for gestational age.
Inheritance may be autosomal recessive given 10 cases of siblings with healthy parents and 4 cases with first-cousin marriage. There is no history of consanguinity in our case. The prenatal sonographic findings are limited to the genito- urinary system, and includes megacystis which never empties well with bilateral hydronephrosis. No prenatal gastric or intestinal abnormalities have been identified. Both polyhydramnios and oligohydramnios are seen depending on which aspect of the disease predominates.