Publication:
Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.

8

Issued Date

1991-03-01

Resource Type

Article

ISSN

01252208

Other identifier(s)

2-s2.0-0026129384

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of the Medical Association of Thailand. Vol.74, No.3 (1991), 172-175

Suggested Citation

N. Poungvarin, A. Viriyavejakul Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.. Journal of the Medical Association of Thailand. Vol.74, No.3 (1991), 172-175. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/22158

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Title

Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.

Author(s)

N. Poungvarin
 A. Viriyavejakul

Other Contributor(s)

Mahidol University

Abstract

The first report of the rare combination of myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism was reported. The patient was a 21-year-old man who presented with stiffness of the muscles for 12 years and a history of generalised convulsion for 8 years. His school studies declined gradually and his secondary schooling was interrupted. Examination revealed a muscular young man with myotonic percussion over the muscles of the body as well as the myotonic lid lag. Chvostek's sign was positive and his serum calcium level was very low whereas the serum phosphate was high. Symmetrical and extensive calcification of the brain parenchyma was demonstrated in the CT scan. His secondary sexual characteristics were not well developed and his testes were very small. Chromosome study confirmed the diagnosis of Klinefelter syndrome by the identification of 47 XXY chromosome. He was prescribed calcium replacement and the anticonvulsant was withheld with no more episodes of seizure.

Keyword(s)

Medicine

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https://repository.li.mahidol.ac.th/handle/123456789/22158

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Scopus 1991-2000