Successful treatment of pure myopathy, associated with complex I deficiency, with riboflavin and carnitine
P. L. Bernsen, F. J. Gabreels, W. Ruitenbeek, R. C. Sengers, A. M. Stadhouders and W. O. Renier
Department of Child Neurology, St Radboud University Hospital, Nijmegen, The Netherlands.
We describe a 6-year-old boy who presented with progressive muscle
weakness. Additional investigations revealed the existence of a myopathy
and a pure motor neuropathy. Biochemical studies in muscle tissue showed a
defect of NADH dehydrogenase (complex I). The patient dramatically improved
on treatment with riboflavin and L-carnitine. Seven months after the start
of the treatment, complex I activity was determined again and appeared to
be normalized. Normalization of the enzymatic defect at this level has not
been reported before. We provide a survey of nine patients with pure
myopathy, associated with complex I deficiency and onset of symptoms in
childhood.
