Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience (Case Report)

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BEGIC EDIN; BRADARIC Haris; BEGIC ZIJO; DOBRACA Amra

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

Journal Paper

Paper Information

Journal: Iranian Journal of Child Neurology Year:2019 | Volume:13 | Issue:1 Page(s): 115-120

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Title

Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience (Case Report)

Author(s)

BEGIC EDIN | BRADARIC Haris | BEGIC ZIJO | DOBRACA Amra | Issue Writer Certificate

Keywords

Progressive myoclonus epilepsy

Lafora disease

NHLRC1 mutation

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.

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APA: Copy

BEGIC, EDIN, BRADARIC, Haris, BEGIC, ZIJO, & DOBRACA, Amra. (2019). Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience (Case Report). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 13(1), 115-120. SID. https://sid.ir/paper/742026/en

Vancouver: Copy

BEGIC EDIN, BRADARIC Haris, BEGIC ZIJO, DOBRACA Amra. Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience (Case Report). IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2019;13(1):115-120. Available from: https://sid.ir/paper/742026/en

IEEE: Copy

EDIN BEGIC, Haris BRADARIC, ZIJO BEGIC, and Amra DOBRACA, “Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience (Case Report),” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 13, no. 1, pp. 115–120, 2019, [Online]. Available: https://sid.ir/paper/742026/en

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