# Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

## TL;DR

A baby with recurring low blood sugar and hormone issues led to an early diagnosis of a rare condition called septo-optic dysplasia.

## Contribution

This case report emphasizes the importance of early diagnosis and neuroimaging in infants with specific symptoms.

## Key findings

- Recurrent hypoglycaemia and hormonal deficiencies in an infant prompted investigations leading to an early SOD diagnosis.
- Early hormone replacement therapy can reduce long-term complications in SOD patients.

## Abstract

Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared for a baby girl who presented with recurrent hypoglycaemia, conjugated hyperbilirubinemia, and hormonal deficiencies, prompting investigations that resulted in an early diagnosis of SOD. This case report highlights the importance of considering neuroimaging to exclude septo‐optic dysplasia in term infants with recurrent hypoglycaemia, low cortisol, and growth hormone levels, as timely diagnosis with early hormone replacement reduces long‐term morbidities.