先天性パラミオトニアの1例  [in Japanese] A case of paramyotonia congenita.  [in Japanese]

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先天性パラミオトニアの1例を報告する. 患児は15歳男児で, 1歳頃より寒冷時に増強する四肢のこわばりに気付かれていた. 家系内には同様の症状を呈する者が4世代に19名認められた. このミオトニアはparadoxical myotoniaで, ミオトニアに続いて筋脱力を認める事もあったが症状は非進行性であった. また, 運動負荷後以外には筋脱力を認める事はなかった. 筋電図ではmyotonic dischargeを認めたが, 氷冷後はelectrical silenceとなった. 先天性パラミオトニアは高K性周期性四肢麻痺との異同が問題となる疾患であるが本症例では周期性四肢麻痺の既往はなかった.

The patient, a 15-year-old boy of normal intelligence, developed muscle stiffness in early childhood, with or without weakness, after physical exercises especially in the cold weather. This stiffness occurred in extremities, jaws, and the tongue, and was aggravated by physical exercises (paradoxical myotonia). Sometimes he experienced a generalized flaccid palsy immediately after violent exercises in the cold weather, but never at rest. The family history revealed 19 members with similar symptoms in 4 generations, and suggested the mode of autosomal dominant inheritance in this disease.<BR>General physical examinations were negative. He was no neurological abnormality except for marked grip myotonia and eyelid myotonia. Slight percussion myotonia was elicited in the tongue and the deltoid muscle.<BR>Laboratory examinations revealed elevated serum creatine phosphokinase (810 IU/I; normal range 0-150). Other laboratory data were all normal, including complete blood counts, blood chemistry, urinalysis, T3 and T4.<BR>Administration of KCl (5g) resulted in an increase of plasma potassium concentration (from 3.5 to 4.5 mEq/<I>l</I>), and aggravation of the muscle stiffness and weakness was observed. EMG showed myotonic discharges on needle insertion and normal motor unit potentials at room temperature, but the muscle became contracted and electrically silent after the hand had been immersed in the water for 12 minutes.

Journal

  • NO TO HATATSU

    NO TO HATATSU 17(6), 583-587, 1985

    THE JAPANESE SOCIETY OF CHILD NEUROLOGY

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