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LETTER TO EDITOR
Year : 2004  |  Volume : 52  |  Issue : 3  |  Page : 405-406

Klinefelter’s syndrome with myopathy-A case report


Institute of Post-Graduate Medical Education and Research and Bangur Institute of Neurology, Kolkata - 700 020, India

Date of Acceptance29-Jun-2002

Correspondence Address:
Institute of Post-Graduate Medical Education and Research and Bangur Institute of Neurology, Kolkata - 700 020, India



How to cite this article:
Gangopadhyay P K, Guha D. Klinefelter’s syndrome with myopathy-A case report. Neurol India 2004;52:405-6


How to cite this URL:
Gangopadhyay P K, Guha D. Klinefelter’s syndrome with myopathy-A case report. Neurol India [serial online] 2004 [cited 2020 Oct 26];52:405-6. Available from: https://www.neurologyindia.com/text.asp?2004/52/3/405/12764


Sir,
An 18-year-old male had a decline in the intellectual functions since childhood. The parents also compla­ined of episodic falls and transient loss of consciousness. These episodes occurred on an average, once in every two months, for two years. There was difficulty in rising from the sitting posture.
On examination the patient had marfanoid features. He had small testicles and sparse facial and axillary hair and mild to moderately impaired cognitive functions. Except for bilateral mild flaccidity of calf muscles, there were no other deficits. No obvious behavioral changes were observed.
Routine laboratory investigations showed no abnormality. EEG and cranial CT scan were normal. EMG showed myopathic pattern in all four limbs. Nerve conduction study was normal. Serum muscle enzymes were normal. I.Q score was 45.
Peripheral leukocyte culture showed change in the form of numerical aberration with 80% of divisional plats showing 47 xxy and 20% showing 46 xy.
A mosaic form of Klinefelter's syndrome with myopathic features was diagnosed. The patient is being treated with valproate, which has resulted in reduction in the frequency of seizures.
Klinefelter's syndrome,[1] first described in 1942, is said to be the most common sex chromo­somal aberration (0.9 per 1000).[2] This is often associated with cognitive disorders and increased incidence of behavioral abnormalities.[3] EEG shows spike wave changes.[4] Some cases show reduction in muscle tone and neuromotor developmental delay[5] but myopathic features are uncommon. 

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1.Mukens J.H. editor-Text Book of Child Neurology (5th Ed). Williams & Wilkins USA 1995:213-39.  Back to cited text no. 1    
2.Berg BO. Chromosomal abnormalities & Neuro cutaneous disorders. In: Text Book of Clinical Neurology-Goetz C. G & Pappert EJ, Ed. W. B. Saunders & Company 1999;614-28.  Back to cited text no. 2    
3.Bender B, Fry E, Pennington B, Puck M, Salbenblatt J, Robinson A. Speech and language development in 41 children with sex chromosome abnormalities. Pediatrics 1983;71:262-7.  Back to cited text no. 3    
4.Dummermuth G. EEG inter suchungen Dein Jugenchildren Klinefelter's syndrome. Helv Peadiatric Acta 1961;16:702-10.  Back to cited text no. 4    
5.Salbenblatt JA, Meyers DC, Bender BG, Linden MG, Robinson A. Gross and fine motor development in 47, XXY and 47, XYY males. Pediatr 1987;80:240-4.  Back to cited text no. 5    

 

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Online since 20th March '04
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