Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy
Ryo SasakiYasuyuki OhtaYoshiaki TakahashiKeiichiro TsunodaKoh TadokoroKota SatoJingwei ShangMami TakemotoNozomi HishikawaToru YamashitaKoji Abe
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JOURNAL OPEN ACCESS

2019 Volume 58 Issue 3 Pages 437-440

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Abstract

Klinefelter syndrome is a chromosomal disorder with a typical karyotype of 47, XXY, accompanied by various neurological symptoms. We herein report the first case of Klinefelter syndrome with a rare mosaic form of 47, XXY and 48, XXXY, combined with both spastic paraplegia and peripheral motor neuropathy. This case showed spasticity and hyperreflexia with pathological reflexes and ankle clonus as well as muscle weakness in all extremities. A motor nerve conduction study and the magnetic motor evoked potential suggested motor axonal neuropathy and corticospinal tract disorders. The present case suggests that Klinefelter syndrome can present with both upper and lower motor neuron degeneration.

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© 2019 by The Japanese Society of Internal Medicine
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