Berdon syndrome explained

Berdon syndrome
Synonyms:	Megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH syndrome, MMIHS

Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is a generally fatal^[1] autosomal recessive^[2] genetic disorder affecting the bladder, colon, and intestines.

It is more prevalent in females (7 females to 3 males) and is characterized by constipation and urinary retention, microcolon, giant bladder (megacystis), intestinal hypoperistalsis, hydronephrosis, and dilated small bowel. The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine. It is a familial disturbance of unknown cause.

Walter Berdon et al. in 1976 first described^[3] the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines.

Genetics

Several genes are known to be implicated in this syndrome: these include ACTG2, LMOD1, MYH11 and MYLK.^[4]

Diagnosis

Berdon syndrome is generally diagnosed after birth by the signs and symptoms as well as radiological and surgical findings. It can be diagnosed in the womb by ultrasound, revealing the enlarged bladder and hydronephrosis.^[5]

Treatment

Long-term survival with Berdon syndrome usually requires parenteral nutrition and urinary catheterisation or diversion. Most long-term survivors also have ileostomies.^[6] A multivisceral transplant (stomach, pancreas, small bowel, liver and large intestine) has also been successful.^[7] In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old."^[1]

Notes and References

1. 10.1007/s00383-011-2954-9 . 21792650 . Megacystis microcolon intestinal hypoperistalsis syndrome: Systematic review of outcome . Pediatric Surgery International . 27 . 10 . 1041–6 . 2011 . Gosemann . Jan-Hendrik . Puri . Prem . 27499683 .
2. 10.1002/ajmg.1320410224 . 1785644 . Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature . American Journal of Medical Genetics . 41 . 2 . 251–4 . 1991 . Annerén . Göran . Meurling . Staffan . Olsen . Leif .
3. 10.2214/ajr.126.5.957 . 178239 . Megacystis-microcolon-intestinal hypoperistalsis syndrome: A new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls . American Journal of Roentgenology . 126 . 5 . 957–64 . 1976 . Berdon . WE . Baker . DH . Blanc . WA . Gay . B . Santulli . TV . Donovan . C . free .
4. 10.1016/j.ajhg.2017.05.011 . 28602422 . 5501771 . Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome . The American Journal of Human Genetics . 101 . 1 . 123–129 . 2017 . Halim . Danny . Brosens . Erwin . Muller . Françoise . Wangler . Michael F . Beaudet . Arthur L . Lupski . James R . Akdemir . Zeynep H Coban . Doukas . Michael . Stoop . Hans J . De Graaf . Bianca M . Brouwer . Rutger WW . Van Ijcken . Wilfred FJ . Oury . Jean-François . Rosenblatt . Jonathan . Burns . Alan J . Tibboel . Dick . Hofstra . Robert MW . Alves . Maria M .
5. Web site: Orphanet: Megacystis microcolon intestinal hypoperistalsis hydronephrosis Berdon syndrome. RESERVED. INSERM US14 -- ALL RIGHTS. www.orpha.net. en. 2018-03-18.
6. Web site: Megacystis microcolon intestinal hypoperistalsis syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2018-03-17.
7. Web site: This teen is living her best life after surviving a rare 18-hour transplant surgery. Good Morning America. en. 2019-08-26.