LCHAD deficiency and extreme prematurity: challenging aspects of nutritional management

In this article we present the case of an extremely preterm female infant who was born at 22⁺⁵ weeks’ gestation following an antepartum haemorrhage. A postnatal genetic diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency was made. LCHAD deficiency is a complex metabolic condition, which can be even more challenging to treat when combined with extreme prematurity. Using specialised milk formulas in an extremely preterm infant was a difficult decision; this case report aims to highlight such nutritional and metabolic challenges.

Hiba Ahmed¹
Paediatrics Specialty Trainee ST4
hiba.ahmed4@nhs.net

Katherine Pettinger²
Neonatal Registrar

Sally Aitken¹
Paediatric Dietitian, Team Leader

Hassan Gaili¹
Consultant Neonatologist

¹Hull University Teaching Hospitals NHS Trust
²Bradford Teaching Hospital NHS Foundation Trust

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Keywords

long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD); medium chain triglycerides; extreme prematurity; fatty acid oxidation defect; metabolic disorders

Key points

LCHAD deficiency is a severe and rare form of fatty acid oxidation defect. The primary goals are to prevent fasting and to decrease dietary intake of long-chain fatty acids.
The coexistence of extreme prematurity and metabolic disorders necessitates multidisciplinary management invol-ving dietitians and neonatal medicine, genetics and metabolic teams.

Also published in Infant:

VOLUME 14/ISSUE 2, MARCH 2018

Management considerations in congenital laryngotracheal stenosis

Congenital laryngotracheal stenosis poses significant management challenges, necessitating multidisciplinary input involving paediatric intensivists, neonatologists and paediatric otolaryngologists. Management decisions and patient outcomes are often compounded by coexisting factors including extreme prematurity, gestational age at time of diagnosis and low birth weight. The pathophysiology, treatment options and management considerations related to this complex pathology are discussed.