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Dysmotility In Gastrointestinal And Urinary Tract In A Neonate; Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome; A Case Report

Özge Serçe Pehlevan, Mehmet Baha Aytaç, Ayşe Nihan Uslan, Semih Metin, Onursal Varlıklı, A. Günlemez

Pediatric Academic Case Reports, 2025

Abstract

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare disorder characterized by smooth muscle dysfunction impairing the intestine and bladder. This disorder is commonly associated with a fatal prognosis. Here, we present a female neonate with antenatal clues who had abdominal distension since birth and underwent multiple exploratory laparotomies, and bladder distension requiring drainage by catheterisation. Unresponsive surgical procedures for bowel decompression were carried out. She was managed with total parenteral nutrition and jejunostomy. Mutation in the smooth muscle gamma-actin (ACTG2) gene confirmed the diagnosis. A timely high index of suspicion is crucial for neonates, especially females with abdominal and urinary distension. The early multidisciplinary assesment of the patient provides appropriate treatment modalities, and improves the survival.

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