A newborn with spinal muscular atrophy type 0 presenting with a clinicopathological picture suggestive of myotubular myopathy.
We report a male term newborn with genetically confirmed spinal muscular atrophy type 0, presenting with arthrogryposis and severe generalized weakness and requiring ventilatory support. Muscle biopsy revealed fibers with central nuclei resembling myotubes and negative myotubularin immunohistochemical staining compared with a control muscle biopsy. The absence of myotubularin associated with survival motor neuron protein deficiency suggests that survival motor neuron protein may have a role in muscle fiber maturation and myotubularin expression. Studying the pathology of this rare and lethal neonatal form of spinal muscular atrophy may further our understanding of spinal muscular atrophy pathogenesis.
Nadeau
Amelie
A
Service de Neurologie, Hôpital Ste-Justine, 3175, Côte Ste-Catherine, Montréal (Québec), H3T 1C5, Canada.
D'Anjou
Guy
G
Debray
Guillaume
G
Robitaille
Yves
Y
Simard
Louise R
LR
Vanasse
Michel
M
D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000648:ultrastructure; D009134:Muscular Atrophy, Spinal / Q000378:metabolism / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis*; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000378:metabolism
D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin