Quinlan Kia,  Payne Sydney,  Primack Ilana,  Hilmes Melissa,  Singh Sudha

Final Pr. ID: Poster #: CR-017

1. Berdon syndrome, or Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), is a rare condition with heavy morbidity and high mortality. Therefore, recognition and early diagnosis of this entity are critically important for improved patient management and family counselling. Awareness of this rare disease is a prerequisite to early recognition, whether antenatally or in the neonatal period.

2. We present two cases of Berdon syndrome at our institution. Berdon syndrome is a congenital and generally fatal disease characterized by hypoperistalsis of the gastrointestinal system, non-obstructive bladder distension, and microcolon. As of 2018, only 450 cases have been reported in literature since first described in 1976.

3. We present a logical diagnostic approach to this entity from the starting point of megacystis. Starting at megacystis helps narrow the differential diagnoses, with Eagle-Barret syndrome and posterior urethral valves being the main differential considerations. Read More

Authors:  Quinlan Kia , Payne Sydney , Primack Ilana , Hilmes Melissa , Singh Sudha

Keywords:  Megacystis, Berdon Syndrome, Prune-Belly Syndrome

Maria Anthony Rayer Dhilip Andrew,  Snyder Elizabeth,  Singh Sudha,  Johnstone Lindsey,  Sarma Asha,  Krishnasarma Rekha

Final Pr. ID: Poster #: EDU-015

Megacystis microcolon hypoperistalsis syndrome (MMIHS) also known as Berdon syndrome is a rare genetic disorder with a poor prognosis characterized by hypoperistalsis of the bladder and bowel. When expediently diagnosed and managed, survival can be extended. The radiologist plays a role in the initial diagnosis and recommending further imaging based on the known constellation of findings in collaboration with the pediatric surgeon and pediatric urologist. The radiologist could be the first to appreciate characteristic findings and suggest the possibility of this syndrome.

The purpose of this educational exhibit is to describe the imaging characteristics of Berdon syndrome from the fetal stage to early childhood with an emphasis on 1) main radiologic findings, 2) helpful imaging features to differentiate Berdon syndrome from other similar conditions, 3) appropriate imaging studies to assist in supporting the diagnosis, and 4) clinical findings, management, and outcome. We will review 9 cases and their corresponding imaging.

Sources:

Wymer KM, Anderson BB, Wilkens AA, Gundeti MS. Megacystis microcolon intestinal hypoperistalsis syndrome: Case series and updated review of the literature with an emphasis on urologic management. J Pediatr Surg. 2016;51(9):1565-1573.

Puri P, Shinkai M. Megacystis microcolon intestinal hypoperistalsis syndrome. Seminars in Pediatric Surgery. 2005;14(1):58-63.

Rolle U, O’Briain S, Pearl RH, Puri P. Megacystis-microcolon-intestinal hypoperistalsis syndrome: evidence of intestinal myopathy. Pediatr Surg Int. 2002;18(1):2-5. Read More

Authors:  Maria Anthony Rayer Dhilip Andrew , Snyder Elizabeth , Singh Sudha , Johnstone Lindsey , Sarma Asha , Krishnasarma Rekha

Keywords:  Berdon, intestinal hypoperistalsis, malrotation