Action Myoclonus and Renal Parenchymal Disease: A Case Report

ASLAN K., Erdem M., BAĞIR KILIÇ E., GÖNLÜŞEN G., BOZDEMİR H.

EPILEPSI, cilt.22, sa.2, ss.67-71, 2016 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 2
  • Basım Tarihi: 2016
  • Doi Numarası: 10.14744/epilepsi.2015.34254
  • Dergi Adı: EPILEPSI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.67-71
  • Çukurova Üniversitesi Adresli: Evet

Özet

Progressive myoclonic epilepsies are a devastating group of rare disorders. The case of a young man who presented with a late-diagnosed nephrotic syndrome, progressive myoclonic seizures with action myoclonus, is described in the present report. He was the fifth child of a consanguineous marriage, and there was no familial history of nephrotic syndrome or end-stage renal failure. Renal biopsy showed focal segmental glomerulosclerosis with collapsing glomerulopathy. The patient died at 25 years of age in a context of end-stage renal function consistent with nephrotic syndrome.