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Case Reports
. 2019 Winter;13(1):115-120.

Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience

Edin Begic  1   2 , Haris Bradaric  1 , Zijo Begic  3 , Amra Dobraca  4
Affiliations
Case Reports

Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience

Edin Begic et al. Iran J Child Neurol. 2019 Winter.

Abstract

Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors' attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.

Keywords: Lafora disease; NHLRC1 mutation; Progressive myoclonus epilepsy.

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Conflict of interest statement

The authors declare that there is no conflict of interests.

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