The case of a 13-yr-old body who for some years has presented diffuse muscular hypertrophy and for about one year complained of impediments to movement and problems of muscular decontraction which improved with repetition of the movement, is reported. Clinical, bioptic and electromyographic data pointed to Thomsen's disease. Clinical and biohumoral data suggested hypoparathyroidism. The literature was reviewed from the beginning of the century without coming across any other case of parathyroid changes in congenital myotonia. Although the possibility of a variant of the disease is not excluded a priori, it is considered that a chance association between Thomsen's disease and hypoparathyroidism is the most likely eventually. Diphenylhydantoin and beta-stimulants were used to treat the case. These drugs appear capable of stabilizing the cell membrane of the muscular fibre by improving sodium supply. The two week observation time is considered too short for ascertaining the real therapeutic value of beta-stimulating drugs and it is recommended that a longer period be devoted to the study.
|Translated title of the contribution||A case of Thomsen's disease associated with hypoparathyroidism|
|Number of pages||6|
|Publication status||Published - 1978|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health