Annals of Indian Academy of Neurology
CASE REPORT
Year
: 2016  |  Volume : 19  |  Issue : 3  |  Page : 395--398

Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature


Lokesh Lingappa1, Nikit Shah1, Ananth Sagar Motepalli2, Farhan Shaik2 
1 Department of Pediatric Neurology, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India
2 Department of Pediatric Critical Care, Rainbow Children's Hospital, Banjara Hills, Hyderabad, Telangana, India

Correspondence Address:
Lokesh Lingappa
Consultant Child and Adolescent Neurologist, Rainbow Children«SQ»s Hospital and Perinatal Hospital, Hyderabad - 500 034, Telangana
India

Spinal muscular atrophy with respiratory distress syndrome (SMARD1) is a rare cause of early infantile respiratory failure and death. No cases have been currently described from India. Two low-birth-weight infants presented prior to 6 months of age with recurrent apnea and respiratory distress. Both required prolonged ventilation, and had distal arthrogryposis and diaphragmatic eventration. Nerve conduction study revealed motor sensory axonopathy. Genetic testing confirmed mutations in immunoglobulin mu binding protein (IGHMBP2). These two cases establish presence of SMARD1 in our population. Both infants died on discontinuation of ventilation. Antenatal diagnoses done in one pregnancy. Though rare, high index of suspicion is essential in view of poor outcome and aid antenatal counseling.


How to cite this article:
Lingappa L, Shah N, Motepalli AS, Shaik F. Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature .Ann Indian Acad Neurol 2016;19:395-398


How to cite this URL:
Lingappa L, Shah N, Motepalli AS, Shaik F. Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature . Ann Indian Acad Neurol [serial online] 2016 [cited 2021 Mar 8 ];19:395-398
Available from: https://www.annalsofian.org/article.asp?issn=0972-2327;year=2016;volume=19;issue=3;spage=395;epage=398;aulast=Lingappa;type=0