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 Outcome: Died 108 days after admission when respiratory support was withdrawn at the request of the parents.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.