Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature
| Autor: | Farhan A. R. Shaik, Lokesh Lingappa, Ananth Sagar Motepalli, Nikit Shah |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Pediatrics Spinal Population Case Report diaphragmatic spinal muscular atrophy lcsh:RC346-429 03 medical and health sciences 0302 clinical medicine Atrophy SMARD1 medicine neuronopathy severe infantile axonal with respiratory failure education lcsh:Neurology. Diseases of the nervous system neuronopathy Type VI education.field_of_study Pregnancy medicine.diagnostic_test Respiratory distress business.industry autosomal recessive Spinal muscular atrophy medicine.disease Surgery 030104 developmental biology Respiratory failure muscular atrophy Nerve conduction study Breathing Neurology (clinical) distal spinal muscular atrophy business 030217 neurology & neurosurgery |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 19, Iss 3, Pp 395-398 (2016) Annals of Indian Academy of Neurology |
| ISSN: | 1998-3549 0972-2327 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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