Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS): Series of 4 Cases Caused by Mutation of ACTG2 (Actin Gamma 2, Smooth Muscle) Gene
نویسندگان
چکیده
منابع مشابه
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS).
Introduction Megacystismicrocolon -intestinal hypoperistalsis syndrome(MMIHS) also called as BERDON SYNDROME is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. It poses a diagnostic and therapeutic challenge to the surgeon. It the most severe form of fun...
متن کاملMegacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity
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...
متن کاملHeterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of enteric smooth muscle function affecting the intestine and bladder. Patients with this severe phenotype are dependent on total parenteral nutrition and urinary catheterization. The cause of this syndrome has remained a mystery since Berdon's initial description in 1976. No genes have been clearly linked to M...
متن کاملNew Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
OBJECTIVE To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>...
متن کاملMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a newborn female infant who presented with an abdominal mass, absent bowel sounds, and feeding intolerance with bilious emesis. MMIHS is a rare congenital bowel and bladder defect requiring surgery and chronic total parenteral nutrition in an attempt to sustain life. With few exceptions, it is predominately...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Case Reports in Gastrointestinal Medicine
سال: 2021
ISSN: 2090-6536,2090-6528
DOI: 10.1155/2021/6612983