Aksiyon Miyoklonusu ve Renal Parankimal Hastal�k Birlikteli�i:  Olgu sunumu

Aslan, Kezban; Erdem, Miray; Ba��r, Emine; G�nl��en, G�lfiliz; Bozdemir, Hacer

ISSN 1300-7157

Anasayfa | �leti�im

Cilt : 24 Say� : 1 Y�l: 2018

Aksiyon Miyoklonusu ve Renal Parankimal Hastal�k Birlikteli�i: Olgu sunumu [Epilepsi]

Epilepsi. 2016; 22(2): 67-71 | DOI: 10.14744/epilepsi.2016.34254

Aksiyon Miyoklonusu ve Renal Parankimal Hastal�k Birlikteli�i: Olgu sunumu

Kezban Aslan¹, Miray Erdem¹, Emine Ba��r², G�lfiliz G�nl��en², Hacer Bozdemir¹
¹�ukurova �niversitesi T�p Fak�ltesi N�roloji Anabilim Dal�- Adana
²�ukurova �niversitesi Patoloji Anabilim Dal�- Adana

Progresif miyoklonik epilepsiler, k�t� prognozlu nadir hastal�klar�dan biridir. Bu yaz�da, aksiyon miyoklonusu olan progresif myloklonik epilepsili ve ge� ya�ta nefrotik sendrom tan�s� alm�� gen� bir hasta tan�mland�. Hasta akraba evlili�inden do�an ailenin be�inci �ocu�uydu.Ailede nefrotik sendrom ya da b�brek yetersizli�i tan�l� bir yak�n� yoktu. Renal ince i�ne biyopsisi kollabe glomerülopatinin oldu�u fokal segmental glomer�loskleroz ile sonu�land�. Hasta 25 ya��nda nefrotik sendroma sekonder son evre b�brek yetersizli�i sonras� ya�am�n� yitirdi.

Anahtar Kelimeler: Aksiyon, miyoklonus, nefropati.

Action Myoclonus and Renal Parenchymal Disease: A Case Report

Kezban Aslan¹, Miray Erdem¹, Emine Ba��r², G�lfiliz G�nl��en², Hacer Bozdemir¹
¹�ukurova Univercity Faculty Of Medicine, Department Of Neurology-adana
²�ukurova Univercity Faculty Of Medicine, Department Of Pathology- Adana

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.

Keywords: Action, myoclonus, nephropathy.

Kezban Aslan, Miray Erdem, Emine Ba��r, G�lfiliz G�nl��en, Hacer Bozdemir. Action Myoclonus and Renal Parenchymal Disease: A Case Report. Epilepsi. 2016; 22(2): 67-71

Sorumlu Yazar: Kezban Aslan, T�rkiye

ARA�LAR