A -2- month old child with Spinal Muscular Atrophy Type 1 with Pneumonia: A case report

Abstract

Spinal muscular atrophy (SMA) is a autosomal recessive disease characterized by muscular weakness, hypotonia and atrophy. SMA is caused by mutation or deletion of the survivor motor neuron gene (SMN1), which is located in the telomere region of chromosome 5q13. Incidence of the disease is 1:6000-10000 newborn. Confirmatory diagnosis can be established by molecular genetic analysis. Here a 2- month- old female baby was admitted into the department of pediatrics of Sylhet Women’s Medical College Hospital with because of less movement of whole body for 1 month and repeated cough with respiratory distress for same duration. Baby was dyspneic, chest in drawing and crepitation was present over both lung fields. Signs of lower motor neuron lesions were present. It was confirmed by Polymerase chain reaction (PCR) for SMN gene. Final diagnosis was Spinal muscular atrophy with pneumonia. Symptomatic, Supportive and antibiotic treatment were given. Genetic counseling, regular respiratory follow up was advised.