UNASSIGNED: Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a lethal congenital disorder characterized by a large, non-obstructed bladder, microcolon, and lack of proper peristalsis.
UNASSIGNED: Five cases of MMIHS were identified, confirmed histologically and were predominantly female (F:M, 4:1). DNA sequencing was also performed.
UNASSIGNED: Four cases showed mutations in the α3 and β4 nicotinic acetylcholine receptor (ηAChR) subunits (CHRNA3 and CHRNB4, respectively) on chromosome 15q24. The 5th case had a delayed clinical presentation of intussusception at 11 months and showed a novel missense mutation in ATP2B4 on Chromosome 1q32.
UNASSIGNED: The first four patients showed a previously identified mutation. The 5th patient shows a novel mutation in ATP2B4. This novel gene was associated with a less severe presentation and increases success of multiorgan transplant than the other four patients. This highlights how identifying various mutations may impact prognosis and clinical treatment plans for MMIHS patients.

We present a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a four days old female infant who presented with abdominal distension, bilious vomiting, massive hematuria and feeding intolerance which was first interpreted as Prune Belly Syndrome (PBS), referred to our department after iatrogenic gastric and colonic perforation. Berdon syndrome or MMIHS is a rare congenital anomaly characterized by a massive enlarged bladder, distended abdomen, microcolon, functional obstruction of the gastrointestinal tract, and malrotation.

Complete penoscrotal transposition is an extremely rare congenital anomaly and is usually associated with other urinary system abnormalities. Prenatal diagnosis is feasible by demonstrating perineal anatomy and its relation with scrotum and phallus. We describe two prenatal cases presenting with oligohydramniosis and megacystis due to lower urinary tract obstruction. Postnatal diagnosis was confirmed in both cases. Considering the dismal perinatal outcome, an accurate prenatal diagnosis is required for counseling the parents and preparing for postnatal care.

BACKGROUND: Prune belly syndrome is a rare congenital malformation of unknown etiology, with the following triad of findings: abdominal muscle wall weakness, undescended testes, and urinary tract abnormalities. In most cases, detection of prune belly syndrome occurs during neonatal or infancy period. In this case report, we describe a 12-year-old boy from Ethiopia with the triad of findings of prune belly syndrome along with skeletal malformations. We are unaware of any previous report of prune belly syndrome in Ethiopia.
METHODS: A 12-year-old Amhara boy from the Northwest Gondar Amhara regional state presented to our referral hospital with a complaint of swelling over his left flank for the past 3 months. Maternal pregnancy course and medical history were noncontributory, and he had an attended birth at a health center. He has seven siblings, none of whom had similar symptoms. On examination he had a distended abdomen, asymmetric with bulging left flank, visible horizontal line, upward umbilical slit, and absent rectus abdominis muscles. His abdomen was soft with a tender cystic, bimanually palpable mass on the left flank measuring 13 × 11 cm. Both testes were undescended and he also has developmental dysplasia of the hips. An abdominal ultrasound revealed a large cystic mass in his left kidney area with echo debris and a hip X-ray showed bilateral developmental dysplasia of the hip. Intraoperative findings were cystic left kidney, both testes were intraperitoneal, tortuous left renal vein, enlarged bladder reaching above umbilicus, and left megaureter.
METHODS: bilateral orchidectomy and left nephrectomy were done. He was given intravenously administered antibiotics for treatment of pyelonephritis and discharged home with an appointment for follow up and possible abdominoplasty.
CONCLUSIONS: In the current report delayed presentation contributed to testicular atrophy and decision for orchidectomy. Furthermore, he will be at potential risk for sex hormone abnormality. Therefore, diagnosis of prune belly syndrome in resource-limited settings requires a high index of suspicion. We recommend further research to determine the optimal management and early diagnosis of prune belly syndrome in resource-limited settings.

BACKGROUND: Megacystis microcolon intestinal hypoperistalsis (MMIHS) is a rare disorder characterized by distended nonobstructed bladder, microcolon, and decreased intestinal peristalsis. MMIHS has a particularly poor prognosis; however, when appropriately managed, survival can be prolonged.
METHODS: A systematic review (1996-2016) was performed with the key words \"megacystis microcolon intestinal hypoperistalsis syndrome.\" In addition, a case series of four patients is presented as well as algorithms for the diagnosis and treatment of MMIHS.
RESULTS: 135 patients with MMIHS were identified in the literature. 73% (88/121) of the patients were female, 65% underwent diagnostic biopsy (64/99), and 63% (66/106) were identified with prenatal imaging. The majority of patients were treated with TPN as well as gastrostomy or ileostomy and CIC, however 15% (18/116) received multivisceral or intestinal transplant, and 30% (22/73) had a vesicostomy. The survival rate was 57% (68/121).
CONCLUSIONS: Appropriate management of MMIHS patients is crucial. An enlarged, acontractile bladder in a child with bowel motility problems should be considered diagnostic. Bladder distension can be managed with CIC or vesicostomy in addition to prophylactic antibiotics if frequent urinary tract infections are present. These patients often require gastrostomy or ileostomy as well as total parenteral nutrition. This management has led to significant improvement in survival rates.

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydronephrosis. We present a case of female newborn with antenatal ultrasound revealing a large cystic mass in pelvic with urinary tract origin, abdominal distension, a peristalsis of the intestine and micro colon.

Megacystis microcolon intestinal hypoperistalsis syndrome is a rare congenital anomaly. Several pathogeneses have been described so far, but there is no single mechanism that can explain all the findings of the syndrome. Affected newborns usually present clinically in the first few days of life. The mainstay of diagnosis is a pre or a postnatal imaging evaluation using ultrasound or magnetic resonance imaging. We report an unusual urinary tract finding in a patient with the classic triads of the syndrome that was diagnosed with both pre and postnatal imaging evaluation.