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

CASE REPORT
Eda Jazexhiu-Postoli, Sonila Tomori , Gladiola Hoxha, Mirela Tabaku, Aferdita Tako, Ada Simeoni, Sonila Biba, Paskal Cullufi

 
For citation: Jazexhiu-Postoli E, Tomori S, Hoxha G, Tabaku M, Tako A, Simeoni A, Biba S, Cullufi P. A Rare Cause of Neonatal Hypotonia: First Case of Autosomal Recessive Fast-Channel Congenital Myasthenic Syndrome Type 1B in Albania. International Journal of Biomedicine. 2025;15(1):215-217. doi:10.21103/Article15(1)_CR2
 
Originally published March 5, 2025

Abstract: 

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.

Keywords: 
neonatal hypotonia • congenital myasthenic syndrome • molecular genetic testing • muscular weakness • respiratory insufficiency
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Received December 6, 2024.
Accepted January 15, 2025.
©2025 International Medical Research and Development Corporation.