title: [Steinert disease: abnormal onset or "casual" diagnosis?].
abstract: The most frequent myopathy is "Steinert's disease" (also called myotonic dystrophy). We present a case of particular interest due to the way diagnosis was made. A 20-year-old male was transferred to our Department from another Hospital with a diagnosis of "acute liver disease". He presented with fever (39 degrees C), tetrahyposthenia, dehydration and spatial-temporal disorientation. The most apparent laboratory data was a significant increase in serum levels of creatine phosphokinase (196,260 IU/L; normal values < 50 IU/L). After therapy based on parenteral nutrition and steroids, our patient improved progressively, with normalization of laboratory values. Muscle biopsy and electromyography yielded a diagnosis of Steinert's disease, and the patient's mother was found to be the carrier of a myotonine-kinase gene mutation. In this case, the onset of what appeared to be an influenza-A virus infection (the only positive data observed in the serological analysis) permitted the diagnosis of a hereditary myopathy that had remained asymptomatic up to that time.
authors.affiliation: V Divisione di Malattie Infettive, Ospedale D. Cotugno di Napoli.
authors.forename: R
authors.initials: R
authors.lastname: Pempinello
authors.forename: M D
authors.initials: MD
authors.lastname: Iannece
authors.forename: M
authors.initials: M
authors.lastname: Di Pierro
mesh_terms: D000328:Adult; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis*