# Type 1 Diabetes in a Pediatric Patient With Beckwith-Wiedemann Syndrome

## TL;DR

A 4-year-old girl with Beckwith-Wiedemann syndrome also developed type 1 diabetes, highlighting a rare co-occurrence that warrants further study.

## Contribution

This case report presents a rare instance of Beckwith-Wiedemann syndrome co-occurring with type 1 diabetes in a pediatric patient.

## Key findings

- The patient had hypomethylation of the imprinting center 2 on maternal chromosome 11, causing Beckwith-Wiedemann syndrome.
- Autoimmune markers confirmed a diagnosis of type 1 diabetes despite the patient's young age.
- This case suggests a potential but not yet understood link between Beckwith-Wiedemann syndrome and type 1 diabetes.

## Abstract

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth syndrome with multiple clinical manifestations, including hypoglycemia. Various genetic alterations leading to BWS have been described. Literature has also described the association between BWS and congenital diabetes, but little is known about the association with type 1 diabetes (T1D). We report a 4-year-old female patient with co-occurring BWS and T1D. The patient presented with 2.4-kilogram weight loss in 3 months accompanied by headache, polyuria, and polydipsia. Initial workup showed blood glucose of 681 mg/dL (37.8 mmol/L). Additional workup revealed marked elevation of the glutamic acid decarboxylase 65 and insulin antibodies, confirming the diagnosis of T1D. The patient's initial genetic test results revealed BWS caused by hypomethylation of the imprinting center 2 (IC2) found on maternal chromosome 11. Concurrence of BWS and T1D is rare and there are cases previously described where BWS has co-occurred with congenital diabetes but not T1D. Although the etiology of acquired autoimmunity is unclear, the answer may lie in genetic analysis or autoimmunity secondary to preceding viral illness. Regardless of the etiology, this case emphasizes further exploration of the association between BWS and T1D.