Endocrine Abstracts

A young female with ROHHAD syndrome first presented to Medway Hospital following a cardiac arrest caused by severe hypercapnia, a consequence of central hypoventilation. Since her admission, she has been under the care of a multidisciplinary team, with key involvement from respiratory and endocrine specialists to address her complex needs. A particularly unique aspect of her case is her exceptional sensitivity to desmopressin, which has posed significant challenges in the management of partial diabetes insipidus (DI). Over time, the patient has had multiple hospital admissions due to electrolyte imbalances, particularly fluctuations in sodium levels. The frequency of these admissions increased following the death of her primary carer, a close family member. This rare finding in a ROHHAD patient underscores the critical importance of precise fluid and electrolyte management, requiring meticulous titration of treatment to avoid life-threatening sodium imbalances. Her case highlights the value of individualised care strategies and regular monitoring, alongside the need for clear escalation protocols to ensure timely intervention. This experience provides new insights into the management of ROHHAD patients with atypical presentations and reinforces the necessity of a collaborative, multidisciplinary approach for rare, multifaceted conditions.