en عمومى General گزارش مورد case report <div style="text-align: justify;"><span style="font-size:14px;"><span style="font-family:Times New Roman;"><span style="line-height:14.0pt"><b><span style="color:#24a3a0">Background and Objective:</span></b> <span lang="EN-IN">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.</span><span style="font-family:"Times New Roman","serif""></span></span><br> <span style="line-height:14.0pt"><b><span style="color:#24a3a0"><span style="letter-spacing:.2pt">Case Report:</span></span></b> <span lang="EN-IN"><span style="letter-spacing:.2pt">This study reports a 1.5 months old</span></span> <span lang="EN-IN"><span style="letter-spacing:.2pt">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. </span></span><b><span style="color:#24a3a0"></span></b></span><br> <b><span style="line-height:107%"><span style="color:#24a3a0">Conclusion:</span></span></b> <span lang="EN-IN"><span style="line-height:107%">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</span></span><span style="line-height:107%">.</span></span></span></div> Floppy, Hypotonia, Poor Nutrition, Respiratory Insufficiency, Survival Motor Neuron Gene, Werdnig-Hoffmann disease 13 13 http://caspianjp.ir/browse.php?a_code=A-10-256-1&slc_lang=en&sid=1 Ketaki Kulkarni ketakikulkarni@mgims.ac.in 10031947532846004652 10031947532846004652 No Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India Ravi Varma ravivarma@mgims.ac.in 10031947532846004653 10031947532846004653 No Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India Anuragsingh Chandel anuragchandel@mgims.ac.in 10031947532846004654 10031947532846004654 Yes Assistant Professor; Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India Smita Jategaonkar jsmita@mgims.ac.in 10031947532846004655 10031947532846004655 No Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India Varsha Chauhan varsha@mgims.ac.in 10031947532846004656 10031947532846004656 No Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India Manish Jain manish@mgims.ac.in 10031947532846004657 10031947532846004657 No Department of Pediatrics, Mahatma Gandhi Medical Institute of Medical Sciences, Sevagram, Maharashtra, India