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Neurology India, Vol. 52, No. 3, July-September, 2004, pp. 405-406 Letter To Editor Klinefelters syndrome with myopathy-A case report Gangopadhyay PK, Guha Debasish Institute of Post-Graduate Medical Education and Research and Bangur Institute of Neurology, Kolkata - 700 020
Correspondence Address:Institute of Post-Graduate Medical Education and Research and Bangur Institute of Neurology, Kolkata - 700 020 Code Number: ni04144 Sir, 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. REFERENCES
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