Type 0 spinal muscular atrophy with multisystem involvement

Abstract

Background: The classical forms of severe Spinal Muscular Atrophy type is well recognized by pediatricians. Case Characteristics: A hypotonic neonate with severe respiratory distress at birth. Observation: 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 Outcome: Died 108 days after admission when respiratory support was withdrawn at the request of the parents.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.