Type 0 spinal muscular atrophy with multisystem involvement.

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 OUTCOME Died 108 days after admission when respiratory support was withdrawn at the request of the parents.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