Lafora Hastalığı: Olgu Sunumu

Lafora hastalığı (LH) otozomal resesif olarak kalıtılan, progresif miyoklonik epilepsiler grubunda yer alan bir hastalıktır. Klinik seyir ilerleyici olup miyokloniler, serebellar, ekstrapiramidal bulgular, jeneralize tonik klonik nöbetler ve bilişsel yıkım hastalığın tipik özelliklerini oluşturur. Valproik asit, zonisamid, levetirasetam, klonazepam ve pirasetam tedavi seçenekleri arasındadır. Karbamazepin (KBZ), okskarbazepin, fenitoin ve lamotirijin (LM) ise klinik tabloyu bozabildiğinden, kaçınılması gereken ilaçlar arasındadır. Her ne kadar veriler henüz sınırlı olsa da, nöbet sıklığında azalmanın yanı sıra LH’daki nörolojik ve kognitif kötüleşmeyi düzeltebildiğine dair veriler olan tek ilaç perampaneldir. Bu yazıda, KBZ ve LM ile klinik kötüleşmenin olduğu tipik bir LD hastası elektrofizyolojik ve patolojik bulgular eşliğinde sunulmuştur.

Lafora Disease: A Case Report

Lafora disease (LD) is a progressive myoclonus epilepsy with autosomal recessive inheritance. Clinical course is progressive and includes myoclonic, cerebellar, and extrapyramidal signs, generalized tonic-clonic seizures, and cognitive decline. Valproic acid, zonisamide, levetiracetam, clonazepam, and piracetam are among the treatment options. Carbamazepine (CBZ), oxcarbazepine, phenytoin, and lamotrigine (LM) should be avoided to prevent worsening of symptoms. Though evidence is limited, perampanel is the only drug to achieve sustained improvement in frequency of seizures, and effective control of neurological and cognitive decline in patients with LD. Described in the present report is a case of typical LD with clinical worsening on CBZ and LM treatment. Electroencephalographic and pathologic findings are reported.

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