spinal muscular atrophy type 1 presented with clinical sepsis: a case report and review of literature

Background and objective: spinal muscular atrophy (sma) type 1 is an autosomal recessive degenerative disease presenting early in life and progressing into neonatal and infancy. it is caused by a loss of function of the gene for surviving motor neuron 1, leading to degeneration of the anterior horn cells of the spinal cord and consequent to progressive muscle weakness and atrophy. the aim of this case report is to report an infant with sma type 1which was presented with clinical sepsis.case report: this study reports a 1.5 months old male infant presenting with floppy limbs, poor nutrition, inadequate weight gain, and respiratory distress. the infant had tachypnea with paradoxical breathing, hypotonia, tongue fasciculations, bilateral wrist contractures, and absent deep tendon reflexes. he was tested for sma by multiplex ligation-dependent probe amplification (mlpa). reports were positive for a homozygous mutation of the smn1 gene in exon 7 and exon 8, confirming the diagnosis of sma type 1. conclusion: sma can be confused with neonatal sepsis due to similar clinical presentation; a high level of suspicion is required in children with respiratory distress in early infancy. it is important to alert clinicians to this differential diagnosis in children with failure to thrive, respiratory failure, and progressive muscle weakness, as the care of these patients presents unique challenges and ethical dilemmas.