Lafora Disease Masquerading as Hepatic Dysfunction

Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with...

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Published in:Curēus (Palo Alto, CA) CA), 2018-08, Vol.10 (8), p.e3197
Main Authors: Inayat, Faisal, Ullah, Waqas, Lodhi, Hanan T, Khan, Zarak H, Ilyas, Ghulam, Ali, Nouman Safdar, Abdullah, Hafez Mohammad A
Format: Article
Language:English
Subjects:
Acids
Case reports
Convulsions & seizures
Dementia
Epilepsy
Families & family life
Gastroenterology
Genetic counseling
Genetics
Internal medicine
Liver
Medicine
Mutation
Patients
Teenagers
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container_title Curēus (Palo Alto, CA)
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creator Inayat, Faisal
Ullah, Waqas
Lodhi, Hanan T
Khan, Zarak H
Ilyas, Ghulam
Ali, Nouman Safdar
Abdullah, Hafez Mohammad A
description Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence. We chronicle here an unusual case of an asymptomatic young male soccer player who presented with elevated liver enzymes. Neurological examination was unremarkable. The diagnostic workup for hepatitis, infectious etiologies, autoimmune disorders, hemochromatosis, Wilson's disease, alpha-1 antitrypsin deficiency, and other related diseases was inconclusive. He subsequently underwent an uneventful percutaneous liver biopsy. Based on the pathognomonic histopathological findings, Lafora disease was considered the likely etiology. The present study is a unique illustration of this rare disorder initially manifesting with abnormal liver enzymes. It underscores the importance of clinical suspicion of Lafora disease in cases with unexplained hepatic dysfunction. Prompt liver biopsy and genetic testing should be performed to antedate the onset of symptoms in these patients.
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subjects Acids
Case reports
Convulsions & seizures
Dementia
Epilepsy
Families & family life
Gastroenterology
Genetic counseling
Genetics
Internal medicine
Liver
Medicine
Mutation
Patients
Teenagers
title Lafora Disease Masquerading as Hepatic Dysfunction
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