title: [Myotubular myopathy: clinical, electrophysiological and histological study of a case].
abstract: A cases of myotubular myopathy in a 10 years old girl is reported. Clinically, palpebral ptosis, ocular movements limitation, facial diplegia, positivity of Gower's test, muscular hypotrophy distal, foot drop and deep absent reflexes were found. These signals were described by most of authors, besides symptoms referred, like partial urinary incontinency and frequent vomits. Reflexes H absents and teary in our patient were observed but were not described in the other cases of the literature. Routine laboratory tests were within normal limits; only aldolase was lightly elevated. In all muscles examined it was noted a spontaneous electromyographic activity with +- of 2,64 +/- 1,33 ms, 36,87 +/- 30,87 microV and 88,13 +/- 24,82 /s of frequency without characteristics of desenervation potentials of myoneural plates. The voluntary electromyographic activity was of myopathic pattern. A curve I/D made in the motor point of braquial biceps muscle was normal. The biopsy was made in the motor point of this muscle for histochemical, electron immunofluorescence and vital stain microscopy. The biopsy showed 35% of fibras with central nuclei, predominance and hypotrophy of type I fibres, in some of them there were not myofibrils in the central zone, and poor differentiation between the fibre types in oxidative enzymes reactions. The electron microscopy confirmed the histochemical studies. The direct immunofluorescence was positive in some fibres. The vital stain showed beaded subterminal motor fibres. The clinical, electromyographic and principally histological findings suggest a innervation congenital disorder of muscle fibres.
mesh_terms: D002648:Child; D004576:Electromyography; D005260:Female; D006801:Humans; D009132:Muscles / Q000473:pathology / Q000503:physiopathology; D009135:Muscular Diseases / Q000151:congenital / Q000473:pathology*; D009431:Neural Conduction; D009468:Neuromuscular Diseases / Q000473:pathology*; D012018:Reflex / Q000502:physiology; D012021:Reflex, Abnormal / Q000209:etiology
vernacular_title: Miopatia miotubular: estudo clínico, eletrofisiológico e histológico de um caso.