Beckwith-Wiedemann Syndrome in a Premature Dizygotic Female Twin: A Case Report

George Otieno Nyakiti , Brian Odhiambo Ooro

Siaya County Referral Hospital, Siaya Township Alego Usonga, Kenya

Correspondences to: Dr Brian Odhiambo Ooro. Email: oorobrian@gmail.com

Received: 19 Jan 2021; Revised: 03 Oct 2021; Accepted: 20 Oct 2021; Available online: 6 Dec 2021

Abstract

Beckwith-Wiedemann Syndrome is a congenital disease that is rare and has low prevalence worldwide. It presents classically with features of macroglossia, abdominal wall defects (omphalocele), and macrosomia at birth. Other typical manifestations include facial nevus simplex, ear lobe abnormalities (creases and/or pits), transient hypoglycemia, and renal abnormalities seen on ultrasound. We report a case of a female preterm infant of twin gestation presenting at our level 4 hospital’s newborn unit with typical features of the syndrome. We aimed to create further awareness on the diagnosis in secondary health institutions and management of common features and complications of

the syndrome. There is a paucity of pictorial evidence of morphology and literature related to the syndrome in an African child and this case report aims to improve that. No case has been previously reported in the Kenyan setting.

 

 

Keywords: Beckwith-Wiedemann syndrome, Macroglossia, Omphalocele, Facial nevus simplex, Twins

Ann Afr Surg. 2022; 19(1): 50-53 

DOI: http://dx.doi.org/10.4314/aas.v19i1.9 

 Conflict of interest: None

 Funding: None.

 

© 2022 Author. This work is licensed under the Creative Commons Attribution 4.0 International License.

Introduction 

Beckwith-Wiedemann syndrome (BWS) is a part of congenital overgrowth syndromes (1, 2). Epidemiology shows a low worldwide prevalence, with Spain reporting 0.13 for every 10,000 live births (2) and Italy reporting 1 in 10,340 (3). The exact incidence is unknown in our setting (Kenya). The syndrome was described by two doctors, Beckwith in 1963 (4) and Wiedemann (5) in 1964. BWS presents with macroglossia (97–100%), abdominal wall defects (77–80%), hypoglycemia (63%), and macrosomy (68%) (1, 2, 6). Other features of BWS may include minor features such as cleft palate, visceromegally, renal alteration, ear creases/pits hyperinsulinemia, and microcephaly (2, 6). DeBaun et al., in an attempt to systemize the diagnostic criteria of BWS, suggested two out of any of the following five features: neonatal hypoglycemia, omphalocele, ear lobe abnormalities, macroglossia, and macrosomia (7). A diagnostic criteria of three major features (macrosomia, macroglossia, and abdominal wall defects) or two major features and three minor features (facial nevus simplex, hemi hyperplasia, ear lobe creases and pits, nephromegaly, and neonatal hypoglycemia) was suggested by Elliott et al. (8). BWS results from the genetic alteration in imprinting and methylation of the chromosomal band 11p15. The imprinted genes affected are two clusters of the insulin growth factor 2 (IGF2/H19) and CDKN1C/KCNQ1OT1. Monozygotic twins, mostly females, have been reported to be discordant for BWS due to skewed imprinting in KCNQ1OT1 (6, 7, 9).

 

Case presentation 1

A middle-aged Kenyan woman, para 2+0, with twin gestation delivered at 33 weeks via cesarean section secondary to twin gestation. The mother reported no known illnesses. No history of major events was reported in the antenatal period. Ultrasound performed during the antenatal period was normal. No history of exposure to known teratogens in utero was reported. The first twin (discussed hereby) was female, with birth weight of 1900 g and Apgar score of 9/10 at 1 minute, 10/10 at 5 minutes, and 10/10 at 10 minutes. The patient cried immediately at birth and was admitted to the newborn unit at our facility on the first day of life due to low birth weight, prematurity, and anterior abdominal wall defect. She was noted to have an anterior abdominal wall defect approximately 5 4 cm, with loops of bowel inside it (omphalocele), a large protruding tongue (macroglossia), a discoloration on the left side of the face (facial nevus simplex), and ear lobe creases and pits (Figure 1). A diagnosis of BWS was therefore considered. No other abnormality was detected, and the baby remained in fair and stable general condition. Prophylactic intravenous crystallized penicillin and gentamycin was prescribed. Breastfeeding was initiated immediately, and random blood sugar measurements taken serially for 3 days showed normal sugar levels. Complete blood count, liver function tests, thyroid function test, and urea, creatinine, electrolyte tests were done, and all came back with normal values. An abdominal ultrasound was also requested, which showed normal abdominal organs and viscera. A surgical consult was done due to the anterior abdominal wall defect, where a decision on conservative management was made. However, on the second day of life, the omphalocele sac ruptured, exposing the bowels, and this was repaired primarily in theater under general anesthesia without any complications (Figure 2). Low birth weight was managed as per protocol, and the patient discharged after 10 days. The second twin was a male baby, with birth weight of 1800 g and Apgar score of 8/1 at 1 minute,