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Research Paper | Medicine | India | Volume 12 Issue 10, October 2023 | Rating: 5.5 / 10
Navigating Complexity: A Case of Progressive Myoclonic Epilepsy - Lafora Body Disease
Dr Makwana Meena | Dr. Nupur Pandya | Vora Jyoti | Dr Kaushika Chaudhary
Abstract: Introduction: Progressive myoclonic epilepsy (PME) is a rare and complex group of inherited disorders characterized by epileptic seizures, myoclonus, and progressive neurological degeneration. Among these, Lafora body disease stands as an exceptionally severe form. This case report explores the diagnostic journey of a 17-year-old male with PME-Lafora body disease, emphasizing the critical role of early recognition and multidisciplinary care in managing this rare neurological condition. Aim: This article aims to shed light on the intricate clinical course of PME-Lafora body disease and the diagnostic challenges it presents. It underscores the importance of timely diagnosis and a multidisciplinary approach to improve the patient's quality of life and potentially slow symptom progression. Case History: The 17-year-old male patient's history encompasses a spectrum of symptoms, beginning with jerky hand movements and progressing to cognitive decline and seizures. Diagnostic assessments included neuroimaging, cerebrospinal fluid examination, ceruloplasmin level evaluation, Skin biopsy histopathology examination and electroencephalography. A clinical diagnosis of Progressive Myoclonic Epilepsy - Lafora Body Disease was established. Conclusion: The complexity of PME-Lafora body disease necessitates a meticulous diagnostic journey that includes clinical assessments, neuroimaging, and specialized laboratory tests. Despite the absence of a cure, early recognition and comprehensive care involving antiepileptic drugs and supportive measures play a crucial role in managing this debilitating condition. This case highlights the challenges in diagnosing and managing rare neurological diseases and emphasizes the need for continued research to enhance our understanding and treatment options for PME.
Keywords: Progressive Myoclonic Epilepsy, Lafora Body Disease, Neurological Degeneration, Rare Neurological Condition, seizures
Edition: Volume 12 Issue 10, October 2023,
Pages: 223 - 226