Abstract
We present two siblings affected by hereditary motor and sensory type II neuropathy (HMSN-II) with neuromyotonia, and associated with muscle hypertrophy of the thighs and calves in one. We review the literature about the association between HMSN-II, neuromyotonia and muscle hypertrophy. Muscle enlargement in HMSN-II is rare and may be sporadic or under genetic control. In our patient, muscle hypertrophy was sporadic and probably due to neuromyotonia. The relationship between muscle hypertrophy and neuromyotonia can be deduced by the fact that both conditions were reduced after diphenylhydantoin treatment (200 mg/day).
Sommario
Presentiamo due fratelli affetti da neuropatia sensitivo-motoria ereditaria tipo II (HMSN-II) con concomitante neuromiotonia. Uno dei due pazienti mostrava anche ipertrofia delle cosce e dei polpacci.
È stata eseguita una revisione della letteratura sull'associazione fra HMSN-II, neuromiotonia e ipertrofia muscolare. L'ipertrofia muscolare nella HMSN-II è rara e può essere geneticamente determinata o sporadica. Nel nostro caso, l'ipertrofia muscolare era sporadica e probabilmente secondaria alla neuromiotonia. La relazione tra ipertrofia muscolare e neuromiotonia è deducibile dall'osservazione che entrambe le condizioni sono migliorate dopo trattamento con difenilidantoina (200 mg/die).
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Maurelli, M., Candeloro, E., Egitto, M.T. et al. Hereditary motor and sensory neuropathy type II (HMSN-II) and neurogenic muscle hypertrophy: a case report and literature review. Ital J Neuro Sci 19, 184–188 (1998). https://doi.org/10.1007/BF00831570
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DOI: https://doi.org/10.1007/BF00831570