Managing a Traumatic Unknown: A caesarean section in a women with potential ornithine transcarbamylase deficiency

 

Introduction

The number of women with complex metabolic disorders reaching childbearing age has significantly increased1.

Obstetric anaesthetists, as integral members of the multidisciplinary team, must be prepared to manage such cases throughout their

careers. Mismanagement can result in catastrophic outcomes.

 

Case Report

A healthy 34-year-old woman presented for an elective caesarean

section. Two weeks prior, her sister had experienced rapid deterioration

following an instrumental delivery, requiring intensive care for suspected

ornithine transcarbamylase deficiency (OTCD). As genetic testing was

delayed, this case was treated as presumed OTCD.

 

Ornithine Transcarbamylse Deficiency

Ø Genetic metabolic disorder caused by an enzyme deficiency affecting

nitrogen conversion to urea.

Ø OTCD is often asymptomatic, but stressors like pregnancy can trigger

hyperammonemic crises.

Ø Acute neurological, psychiatric or gastrointestinal symptoms during the

peripartum period should raise suspicion of OTCD.

 

Our Practice

- A dedicated, experienced, health professional

appointed during the operation as first point of

contact between team and patient

- Ensuring the patient is listened to and concerns

are addressed promptly and with care

- Multifaceted and multidisciplinary approach to

the patient’s care pathway emphasizing

collaboration among midwifery, obstetric,

anaesthetic, and metabolic teams

- Ensuring that follow-up is arranged from clinical

and non-clinical aspects