Abstract
MMIHS, also known as Berdon's syndrome, is a rare disease that belongs to primary causes of CIPOS (chronic intestinal pseudoobstruction syndrome). Clinical characteristics of MMIHS are differential, but we come across the following classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis. In this article, we present a series of 4 patients with Berdon's syndrome, in whom we managed to identify the genetic causes of MMIHS. All infants showed clinical features of bowel obstruction and dysfunction of the urinary system after birth. Two of them also manifested disorders from other systems. The prognosis for these patients is poor, but a constant betterment of management in MMIHS, in which the leading role plays TPN (total parental nutrition), causes improvement of patients' survival.
Highlights
Berdon’s syndrome, known as MMIHS, is a rare motility disorder of gastrointestinal and urinary tract caused by primary dysfunction of the architecture of the smooth muscle cell membrane or intestinal nervous system. e clinical features of MMIHS are various, but we come across three classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis [1, 2]. e severity of MMIHS and conditions of other organ systems depend on differential variants of genetic mutations that have been identified as molecular causes of Berdon’s syndrome. e following genes are known to be involved in pathogenesis of MMIHS: ACTG2, MYH11, MYLK, LMOD1, and MYL9 [3]
We report a case series of 4 patients with detected ACTG2 gene mutations. e others are without ascertained genetic causes
A 3-month-old female infant weighing 3050 g with Apgar score of 9 and 8 at 1 min and 5 min was referred to our centre to enter Home Parenteral Nutrition Program (HPN). e girl was born to a non-consanguineous Polish couple and delivered by spontaneous labour at 35 weeks of pregnancy
Summary
Berdon’s syndrome, known as MMIHS (megacystismicrocolon-intestinal hypoperistalsis syndrome), is a rare motility disorder of gastrointestinal and urinary tract caused by primary dysfunction of the architecture of the smooth muscle cell membrane or intestinal nervous system. e clinical features of MMIHS are various, but we come across three classic symptoms: disorders of intestinal peristalsis, microcolon, and megacystis [1, 2]. e severity of MMIHS and conditions of other organ systems depend on differential variants of genetic mutations that have been identified as molecular causes of Berdon’s syndrome. e following genes are known to be involved in pathogenesis of MMIHS: ACTG2 (the most frequent), MYH11 (myosin heavy chain 11), MYLK (myosin light chain kinase), LMOD1 (leiomodin 1), and MYL9 (myosin light chain 9) [3]. Berdon’s syndrome, known as MMIHS (megacystismicrocolon-intestinal hypoperistalsis syndrome), is a rare motility disorder of gastrointestinal and urinary tract caused by primary dysfunction of the architecture of the smooth muscle cell membrane or intestinal nervous system. E severity of MMIHS and conditions of other organ systems depend on differential variants of genetic mutations that have been identified as molecular causes of Berdon’s syndrome. E following genes are known to be involved in pathogenesis of MMIHS: ACTG2 (the most frequent), MYH11 (myosin heavy chain 11), MYLK (myosin light chain kinase), LMOD1 (leiomodin 1), and MYL9 (myosin light chain 9) [3]. Genetic causes have been identified in approximately 50% of Berdon’s syndrome cases. We report a case series of 4 patients with detected ACTG2 gene mutations. We report a case series of 4 patients with detected ACTG2 gene mutations. e others are without ascertained genetic causes
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