Document Detail

Myotonia congenita, Klinefelter syndrome and primary hypoparathyroidism: the first report of the unusual combination of three rare diseases in the literature.
MedLine Citation:
PMID:  1861136     Owner:  NLM     Status:  MEDLINE    
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.
N Poungvarin; A Viriyavejakul
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of the Medical Association of Thailand = Chotmaihet thangphaet     Volume:  74     ISSN:  0125-2208     ISO Abbreviation:  J Med Assoc Thai     Publication Date:  1991 Mar 
Date Detail:
Created Date:  1991-09-05     Completed Date:  1991-09-05     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7507216     Medline TA:  J Med Assoc Thai     Country:  THAILAND    
Other Details:
Languages:  eng     Pagination:  172-5     Citation Subset:  IM    
Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
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MeSH Terms
Diagnosis, Differential
Hypoparathyroidism / complications*,  drug therapy,  radiography
Klinefelter Syndrome / complications*,  diagnosis,  genetics
Myotonia Congenita / complications*,  diagnosis,  pathology
Tomography, X-Ray Computed

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