MECP2 Gene-Related Severe Neonatal Encephalopathy: A Rare Case in a Female Neonate

TL;DR

A rare case of neonatal encephalopathy caused by a MECP2 gene mutation in a female neonate is reported, highlighting the importance of genetic testing for accurate diagnosis.

Contribution

This paper presents a rare case of MECP2-related neonatal encephalopathy in a female, expanding understanding of the condition's presentation.

Findings

MECP2 gene mutations can cause neonatal encephalopathy in females, a rare occurrence.

Genetic testing is crucial for diagnosing non-HIE causes of neonatal encephalopathy.

Abstract

Neonatal encephalopathy is a common morbidity witnessed by neonatologists globally. Though hypoxic ischemic encephalopathy (HIE) is the most common cause of neonatal encephalopathy, the absence of a specific history of hypoxia-ischemia necessitates knowledge about other diseases causing encephalopathy among neonates. These include a plethora of central nervous system, neuromuscular, vascular, metabolic, and genetic disorders. We describe a rare case of neonatal encephalopathy caused by a Methyl CpG binding protein 2 (MECP2) gene mutation in a female neonate. MECP2 mutations mostly lead to classical or variant Rett syndrome in females with a later presentation, while neonatal encephalopathy is almost exclusively reported in males. The case highlights the need for genetic testing for non-HIE causes of neonatal encephalopathy to attain the correct diagnosis.

Figures