Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy.
Spinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty.
Falsaperla
R
R
Department of Pediatrics, Azienda Policlinico, University of Catania, Sicily, Italy.
Romeo
G
G
Di Giorgio
A
A
Pavone
P
P
Parano
E
E
Connolly
A M
AM
D001176:Arthrogryposis / Q000503:physiopathology*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology*; D017741:Survivors