Action Myoclonus and Renal Parenchymal Disease: A Case Report
EPILEPSI, cilt.22, sa.2, ss.67-71, 2016 (ESCI, TRDizin)
- 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.