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Type 0 spinal muscular atrophy with multisystem involvement
Sanjeev Khera1, Ranjit Ghuliani
1Department of Pediatrics, Military Hospital, Agra, Uttar Pradesh. Correspondence to: Dr Sanjeev Khera, Department of Pediatrics, Military Hospital Agra 282 001, Uttar Pradesh, India. kherakherakhera@gmail.com.
Background:
The classical forms of severe SMA type 0 is well recognised by Pediatricians.
Case Characteristics:
A hypotonic neonate with severe respiratory distress at birth.
Observations:
Homozygous absence of exons 7 of the Survival Motor Neuron I gene.
Outcome:
Died 108 days after admission when respiratory support was withdrawn at the request of the parents.
Message:
Spinal Muscular Atrophy should be kept in mind in the differential diagnosis for unexplained severe generalized hypotonia and severe respiratory distress immediately after birth in the neonates.
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