Beckwith–Wiedemann Syndrome Presenting as Persistent Non-Ketotic Hypoglycemia in a Preterm Infant
https://doi.org/10.15605/jafes.041.S1
- Author:
Wan Nurzahiah Wan Zakaria
1
;
Yee Lin Lee
1
;
Sin Yin Gan
1
;
Tong Wooi Ch’ng
2
;
Zurina Zainudin
1
Author Information
1. Department of Paediatrics, Hospital Sultan Abdul Aziz Shah, Universiti Putra Malaysia
2. Sunway Medical Centre
- Publication Type:Journal Article
- MeSH:
Infant, Newborn;
Infant;
Beckwith-Wiedemann Syndrome;
Infant, Premature;
Hypoglycemia
- From:
Journal of the ASEAN Federation of Endocrine Societies
2026;41(S1):146-
- CountryPhilippines
- Language:English
-
Abstract:
Introduction:Beckwith–Wiedemann syndrome (BWS) is a congenital
overgrowth disorder associated with dysregulation of
genes on chromosome 11p15.5. Infants with BWS can
present with hyperinsulinemic hypoglycemia. There are
also distinctive clinical features including macrosomia,
macroglossia and visceromegaly that may raise suspicion
of this diagnosis.
Case:A preterm female infant of 30 weeks gestation with a birth
weight of 1.87 kg (97th centile) had recurrent hypoglycemia
in the neonatal period, requiring escalation to a maximum
glucose infusion rate of 17.6 mg/kg/min. Hypoglycemia
only resolved after starting intravenous glucagon infusion.
Critical sampling during hypoglycemia revealed serum
insulin 3.9 µU/mL (3–25 µU/mL), serum ketone 0.2 mmol/L,
cortisol 3,053 nmol/L and growth hormone 16.2 ng/mL.
These findings supported the diagnosis of non-ketotic
hyperinsulinemic hypoglycemia. She was commenced
on oral diazoxide with resolution of hypoglycemia and
discontinuation of glucagon. Examination at birth revealed macroglossia, hepatomegaly
and ballotable kidneys. An initial US abdomen at birth
revealed bilateral enlarged kidneys but normal liver. An
initial chromosomal study revealed karyotype 46, XX. Over
time, additional clinical features became evident fulfilling
the diagnostic criteria for BWS, that is, polyhydramnios,
large for gestational age, transient hypoglycemia, hyperinsulinism, macroglossia, hemihypertrophy, facial nevi,
bilateral ear creases, hepatomegaly and ballotable kidney.
A repeat US abdomen surveillance at 4 months old revealed
a heterogeneous liver mass with marked vascularity,
prompting a diagnosis of hepatic hemangioma. She was
commenced on oral propranolol, with reduction in the size
and vascularity of the liver hemangioma and decline in
alpha-fetoprotein levels.
Conclusion:The clinical features of BWS may not be recognizable in
a preterm baby in early neonatal period. Careful clinical
examination should be done in a baby with persistent
hyperinsulinemic hypoglycemia for underlying syndromal
causes. US surveillance should also be carried out due to
increased risk of hepatoblastoma or liver hemangioma in
BWS, as was seen in this case.
- Full text:2026081017271841578EP_P023.pdf
