A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and...

X-linked centronuclear myopathy (XLCNM) is a rare neuromuscular disorder that poses significant diagnostic and treatment challenges, particularly in neonates. We present a case of a male infant born at 36 weeks of gestation, weighing 2.1 kg, who was admitted 51 min after birth due to severe asphyxia and low birth weight. Following an emergency cesarean section, the infant required resuscitation, including tracheal intubation and medication administration. Initial evaluations indicated severe respiratory distress and low muscle tone, along with various clinical abnormalities. Laboratory tests suggested potential infection and metabolic distress. Despite comprehensive intensive care, including mechanical ventilation, anti-infection regimens, and nutritional support, the infant continued to experience respiratory difficulties without improvement. Genetic testing via whole exome sequencing identified a rare variant in the MTM1 gene, confirming the diagnosis of XLCNM with an X-linked recessive inheritance pattern. Unfortunately, after extensive treatment and family discussions, the infant's condition failed to stabilize, leading to the difficult decision to withdraw therapy, resulting in the patient's passing. This case underscores the urgent need for early recognition of XLCNM and the critical role of genetic counseling for affected families.