Dr. Venumadhav, Dr.Bhanu vikraman, Dr. C. Jayakumar
Department of Pediatrics, Amrita Institute of Medical Sciences
Introduction
A 6-year11 month old male presented with complaints of recurrent abdominal pain and weight gain since one year.
Child was obese ( weight of 44 kgs,ht of 106 cms, BMI-36) including macroglossia, gynecomastia, acanthosis nigricans and thick, large ear lobules.
LABS
SGOT/SGPT-64/80
Sr chol-177, TG-155, LDL/VDL-104/30
and lab evidence of secondary hypothyroidism,
USG Abdome hepatomegaly with grade 1 fatty infiltration, with normal echotexture. PreOP serology was negative.
Differential Diagnosis
The differentials
SIMPLE OBESITY
central obesity,
Autoimmune liver disease,
Wilson’s disease,
and metabolic syndrome.
Diagnostic Efforts
Further diagnostic efforts included a normal autoimmune liver disease profile and normal ceruloplasmin levels with negative WES for ATP 7B. ANA,
HAVIgM were negative.
Genetic studies revealed hypomethylation of 11p15, suggestive of Beckwith-Wiedemann syndrome (BWS), thus guiding the diagnostic process towards a genetic syndrome associated with growth dysregulation.
Treatment and Outcome
The patient was started on statins(>10yrs, can start and 10mg/day) and Thyroxine , addressing the dyslipidemia and hypothyroidism. Regular follow-ups with ultrasound of the abdomen , Alpha Feto protein levels every 6 months were planned to monitor for Hepato cellular carcinoma and Wilms tumor, which are known to have a higher incidence in patients with beck with weidmann syndrome ( BWS )until the age of 7 years. Diet is also important .Written
Dietary guidelines were given for his weight for height
He has been advised to do regular aerobic exercise for 1hour daily times he achieves weight for height
Discussion
Beckwith-Wiedemann Syndrome is a genetic disorder characterized overgrowth and an elevated tumor risk, stemming from gene expression abnormalities in the 11p15.5 region. The management of BWS is multifaceted, focusing on tumor surveillance and addressing growth abnormalities.
Take home message
This case report highlights the importance of considering genetic syndromes in differential diagnoses in cases of Paediatric obesities and tailoring patient management to address both immediate and long-term health risks.
