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 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 ...

A 2-day-old male neonate, born full term through Caesarian section, presented to our department with bilious vomiting since birth and unable to pass meconeum. On examination, the patient had distended abdomen. A mass was palpable in the hypogastrium and left iliac region. His bowel sounds were not audible; rectal examination showed no meconium. His baseline investigations were within normal ran...

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...