# Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant

## TL;DR

A Chinese infant with a rare genetic disorder had a new LIFR gene variant linked to severe symptoms, highlighting the need for early diagnosis and treatment.

## Contribution

A novel compound heterozygous LIFR gene variant is reported in a Chinese infant with Stüve–Wiedemann syndrome.

## Key findings

- Whole exome sequencing identified a new LIFR gene variant in a 2-month-old infant with Stüve–Wiedemann syndrome.
- The infant experienced recurrent hyperthermia and multi-organ dysfunction despite medical interventions.
- Early identification of the LIFR variant is critical for managing multi-system complications in this disorder.

## Abstract

Stüve–Wiedemann syndrome (SWS) is a rare autosomal recessive genetic disorder characterised by skeletal dysplasia, dysautonomia, and multi-system abnormalities. It is typically caused by variants in the leukaemia inhibitory factor receptor (LIFR) gene. This case report presents a novel and complex heterozygous variant in the LIFR gene in a 2-month-old Chinese infant, which contributes to the limited literature on SWS in the Chinese population and underscores the importance of early identification and intervention. The infant was born at 38 weeks of gestation via caesarean section due to breech presentation. He presented with multiple symptoms, including persistent pulmonary hypertension of the newborn, recurrent hyperthermia, and joint deformities. Whole exome sequencing identified a novel compound heterozygous variant in the LIFR gene. The infant underwent various interventions, including mechanical ventilation, inhaled nitric oxide, and nasogastric feeding. Despite these measures, the infant experienced recurrent hyperthermia episodes leading to multi-organ dysfunction. The infant was eventually stabilised, but follow-up revealed global developmental delay and persistent skeletal abnormalities. Early identification of the LIFR gene variant is crucial for timely intervention and management of multi-system complications. Further research is warranted to explore targeted therapies and improve outcomes for patients with this rare disorder.