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OUTCOME: Died 108 days after admission when respiratory support was withdrawn at the request of the parents.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