Abstract
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.
| Original language | Italian |
|---|---|
| Pages (from-to) | 1629-1634 |
| Number of pages | 6 |
| Journal | Minerva Pediatrica |
| Volume | 30 |
| Issue number | 20 |
| Publication status | Published - 1978 |
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ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
SU DI UN CASO DI MALATTIA DI THOMSEN ASSOCIATA AD IPOPARATIROIDISMO. / Cordone, G.; Iester, A.; Venzano, V.; Minetti, C.
In: Minerva Pediatrica, Vol. 30, No. 20, 1978, p. 1629-1634.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - SU DI UN CASO DI MALATTIA DI THOMSEN ASSOCIATA AD IPOPARATIROIDISMO
AU - Cordone, G.
AU - Iester, A.
AU - Venzano, V.
AU - Minetti, C.
PY - 1978
Y1 - 1978
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0018068832&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0018068832&partnerID=8YFLogxK
M3 - Articolo
C2 - 30038
AN - SCOPUS:0018068832
VL - 30
SP - 1629
EP - 1634
JO - Minerva Pediatrica
JF - Minerva Pediatrica
SN - 0026-4946
IS - 20
ER -