A case of molybdenum cofactor deficiency type B presenting in early neonatal life

This article highlights an unusual presentation of molybdenum cofactor deficiency in an infant initially presenting with weight loss, possible seizures and feeding. It covers his history, the pathophysiology of the condition and new treatments that have recently become available.

Dr Matthew Rose
Paediatric Specialty Trainee
mrose1@doctors.org.uk

Dr Amy Henderson
Paediatric Neurology Subspecialty Trainee

Dr Nick Wood
Consultant Paediatrician

Dr Chakrapani Vasudevan
Consultant Neonatologist

Bradford Royal Infirmary Neonatal Intensive Care Unit

Full text available by subscription ...

The full text of this article is available to subscribers in text, and in Tablet/iPad format and as a PDF file.

Please subscribe and log in to see the full article.

Keywords

neonate; weight loss; molybdenum cofactor deficiency; fosdenopterin

Key points

Molybdenum cofactor deficiency is associated with seizures, encephalopathy, coarse facial features, developmental delay and feeding difficulties.
There is a new treatment available for molybdenum cofactor deficiency type A that can improve three year survival in patients.

Also published in Infant:

VOLUME 18 ISSUE 6/NOVEMBER 2022

Necrotising enterocolitis in a preterm infant with late-onset group B streptococcus sepsis and meningitis

Here we report the case of a preterm infant born at 29⁺⁵ weeks’ gestation who presented at two weeks of age with symptoms of necrotising enterocolitis (NEC) and features of late-onset sepsis. NEC was diagnosed radiologically and group B streptococcus (GBS) was isolated in blood and cerebrospinal fluid cultures. The baby was treated medically for NEC, sepsis and meningitis and later suffered significant complications of meningitis with hydrocephalus. This case report describes the link between late-onset GBS sepsis and NEC.