Vol 6 | Issue 6 | June 2019 Indian J Child Health 328 Case Report Prune-Belly syndrome in 2 cases seen in a tertiary medical institution Southeast Nigeria – A case report Uzoamaka Vivian Muoneke 1 , Obumneme Ben Ezeanosike 2 , Ikenna Nwokoye 3 , Nnamdi Benson Onyire 4 , Linda Nwokeji-Onwe 5 , Olapeju Wunmi Daniyan 5 , Olugbenga Onyebuchi Oduneye 5 From 1 Senior Lecturer, 3 Lecturer, Department of Paediatrics, College of Medicine, University of Nigeria Teaching Hospital, Ituku-Ozalla, Enugu, 2 Lecturer, 4 Associate Professor, 5 Consultant, Department of Paediatrics, College of Medicine, Ebonyi State University, Federal Teaching Hospital, Abakaliki, Ebonyi, Nigeria Correspondence to: Dr. Uzoamaka Vivian Muoneke, Department of Paediatrics, College of Medicine, University of Nigeria Teaching Hospital, Enugu, Nigeria. E-mail: uzoamakamuoneke@gmail.com Received - 15 April 2019 Initial Review - 07 May 2019 Accepted - 01 June 2019 P rune-Belly syndrome (PBS) (Triad syndrome, Obrinsky syndrome, or Eagle-Barrett syndrome) is a rare congenital anomaly characterized by a trinity of deficient abdominal wall muscle, bilateral cryptorchidism, and urinary tract anomalies which may include megaureter, hydroureter, hydronephrosis, vesicoureteral reflux, and megacystis. Pulmonary, orthopedic, cardiac, and gastrointestinal abnormalities may also be present [1-8]. The incidence of occurrence is 1/30,000–40,000 live births, affecting mostly males with only 3–4% being females and 4% of all cases being products of twin pregnancies [1-4]. PBS has no established etiology. However, it is thought to be associated with trisomy 18 and 21 and seems to occur more in some congenital cardiovascular disorders including tetralogy of Fallot and ventricular septal defects [7]. There is no known underlying genetic cause although a recent mutation in the Cholinergic Receptor Muscarinic 3 gene has been reported in one family with a history of PBS [1,2,8]. The deletion of hepatocyte nuclear factor-1 beta, a transcription factor required for visceral endoderm specification during embryogenesis by recent findings, increasingly also supports a genetic background in PBS patients [8-11]. Infant mortality is decreasing worldwide; however, neonatal mortality is still high owing to the cases of congenital anomalies, including those arising from complicated or poorly managed PBS cases [12]. It is a known fact that limited resources for permanent renal replacement therapy are a potential factor in increased mortality rates in such conditions when they are compounded with chronic kidney disease and end-stage kidney disease in our setting. We are reporting two cases which presented with typical features of PBS and were delivered outside the facility. This report is expected to raise the awareness among the medical doctors and other health-care professionals. It is also expected that it would help give emphasis to the need to include prenatal ultrasound scanning for all pregnant mothers such that suspected cases are handled from the beginning by the experts in the field. CASE REPORT The first baby was a male admitted to the Special Care Baby Unit (SCBU) of Federal Teaching Hospital Abakaliki (FETHA) on the 3 rd day of life with poor cry at birth, refusal to suck, abnormally shaped abdomen, and inability to pass urine since birth (Figs. 1 and 2) and delivered at a private hospital and transferred to the tertiary institution. Mother was a 32-year-old primiparous unemployed, school certificate holder, married to a 35-year-old patent medicine vendor with a primary school ABSTRACT Prune-Belly syndrome is a rare congenital disorder, and in underdeveloped and developing countries, the outcome is not well known as only a few isolated cases have been reported. A review of 2 male neonates admitted and managed for Prune-Belly syndrome in the neonatal unit of the Pediatric Department of the Federal Teaching Hospital of Nigeria. This appears to be the very first of such cases to be seen at this hospital. Both babies were delivered outside this tertiary institution and eventually referred here for proper diagnosis and management. Two male neonates aged 2 and 3 days, respectively, were admitted in the same month with a common history of maternal febrile history, poor cry on delivery, and oligohydramnios in one of them. Clinical examination showed scaphoid, lax, and wrinkled abdomen with visible peristalsis and flank fullness, ballotable kidneys, distended bladder, well-formed phallus, small scrotum, and absent testes. There were also musculoskeletal abnormalities ranging from lower limb dysgenesis to clubbing of the feet. Prune-Belly syndrome presents with a spectrum of features which present an overwhelming challenge to both the parents and the managing physician, especially in most resource-poor countries. Key words: Musculoskeletal abnormalities, Neonates, Prune-Belly syndrome, Underdeveloped countries brought to you by CORE View metadata, citation and similar papers at core.ac.uk provided by Atharva Scientific Publications (E-Jounals)