A Rare Cause of Neonatal Hypotonia: First Case of Autosomal Recessive Fast-Channel Congenital Myasthenic Syndrome Type 1B in Albania

Hypotonia is a concern, with high morbidity and poor outcomes in 10% of neonatal care cases. Neonatal hypotonia presents a diagnostic challenge for neonatologists, as it may be a sign of a central nervous disorder (hypoxic-ischemic insult, intracranial hemorrhage, cerebral palsy), inborn errors of metabolism, a primary neuromuscular disorder, or a genetic syndrome associated with hypotonia. This clinical report presents a rare case of neonatal hypotonia caused by autosomal recessive fast-channel congenital myasthenic syndrome type 1B (FCCMS-1B). We describe the case of a newborn who presented with severe hypotonia, muscle weakness, respiratory insufficiency, and feeding difficulties. He was diagnosed with autosomal recessive FCCMS-1B in the presence of heterozygous pathogenic variants in the cholinergic receptor nicotinic alpha 1 subunit (CHRNA1) gene as determined by molecular genetic testing and suggestive clinical features. To our knowledge, this is the first FCCMS report in Albania.