A French team carried out a retrospective study of 29 children with infantile or juvenile forms of Pompe disease.
- Ten children with the infantile form died at a median age of 21 months.
- Of the remainder, four had the juvenile form, 15 the infantile form, four of whom were started on enzyme replacement therapy (ERT) at 1 month of age.
- Two children with infantile form showed electroneuromyographic (ENMG) signs of mixed neuropathic and myopathic involvement at the time of diagnosis; they did not respond to ERT and presented severe motor impairment.
- After the age of 10, all children showed signs of motor neuropathy on ENMG.
- Longitudinal follow-up showed the possibility of secondary development of motor neuropathy with distal motor impairment and functional motor regression.
- In the group of children treated very early, one child developed motor neuropathy with loss of walking at the age of 3.
Electrophysiological data are important for assessing the severity of motor neuron damage, and should be systematic in children with Pompe disease.
