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.

Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy and her fetus with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Case. 24-year-old gravida 1 para 1 with CIPO and persistent nausea and vomiting in pregnancy, admitted at 28 weeks of gestation. Ultrasound revealed a f...

megacystis microcolon intestinal hypoperistalsis syndrome (mmihs) is a rare and the most severe form of functional intestinal obstruction in the newborn. the characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydronephros...

Multiple cardiac rhabdomyomata were discovered on necropsy tissue review of a previously well child with megacystis-microcolon-intestinal hypoperistalsis syndrome, who died unexpectedly at home at 40 months of age. Multiple cardiac rhabdomyomata occur rarely and have not previously been reported with this syndrome. They are most frequently associated with tuberous sclerosis. The finding of mult...

Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et ...

We herein present a megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) case followed by ultrasound (US) examinations before birth. During the prenatal US examination of a 34-year-old woman, an enlarged bladder with bilateral hydronephrosis and hydroureter of the fetus were detected. The amniotic fluid was normal in the second trimester but polyhydramnios was observed in the third...

Normal Anatomy of the Urinary Prune-Belly Syndrome/ 289 Tract/ 255 Megacystis-Microcolon-intestinal Bilateral Renal Agenesis/ 259 Hypoperistalsis Syndrome/ 291 Infantile Polycystic Kidney Congenital Mesoblastic Disease/ 266 Nephroma/ 292 Adult Polycystic Kidney Disease/ 268 Wilms’ Tumor/ 293 Multicystic Kidney Disease/ 270 Normal Anatomy of the Adrenal Ureteropelvic junction Glands/ 295 Obstruc...

A 1-day-old girl, late preterm (36 weeks 3 days) infant, was admitted to the neonatal intensive care unit for respiratory distress and megacystis seen on a prenatal ultrasound at 24 of gestation. babygram (anteroposterior view entire body) showed absence bowel gas, abdominal revealed grade 4 bilateral hydronephrosis. The patient subsequently diagnosed with megacystis-microcolon–intestinal hypop...