Article

During the first two years of life, hypotonia may be the only
symptom of a central or peripheral nervous system disorder.
We propose to assess
the sensitivity of electroneuromyography (ENMG) in the aetiological diagnosis of
hypotonia of neuromuscular origin in infants and toddlers.
METHOD: This is a
retrospective, single-centre study with revision of the files of the 37 children
aged between zero and 24 months who, between 1994 and 2006, underwent an ENMG in
the etiological approach of their hypotonia and had a final diagnosis of
neuromuscular disease. RESULTS: All the 13 patients with spinal muscular atrophy
or Charcot Marie-Tooth disease displayed neurogenic alterations on the
electromyography (EMG). Among the 24 children ultimately diagnosed with
myopathies, five only displayed myogenic alterations when tested before the age
of two. Sixteen had normal EMG results and three showed neurogenic alterations.
CONCLUSION: In infants presenting with hypotonia,
ENMG is useful
for the diagnosis of peripheral neuropathy. Normal ENMG is relatively common for
confirmed muscle disorders in infants whereas myogenic alterations seem more
unusual, so that muscle biopsy appears unquestionable. In a few cases, early
onset myopathies may present with a neurogenic ENMG pattern. Such a result should
not invalidate the clinically presumed diagnosis of myopathy and would indicate
on the contrary the need for a muscle biopsy.

Langue : ANGLAIS ; FRANCAIS