ArticleFrontiers in pediatrics2026
A case report of X-linked centronuclear myopathy in a neonate: clinical presentation, therapeutic process, and genetic insights.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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
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