Suryawijaya, Evlyne Erlyana
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Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs Suryawijaya, Evlyne Erlyana; Lokito, Shania
Medicinus Vol 13, No 3 (2024): June
Publisher : Fakultas Kedokteran Universitas Pelita Harapan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.19166/med.v13i3.8882

Abstract

Background: Epilepsy, a chronic neurological disorder affecting over 50 million people worldwide, is marked by recurrent seizures and loss of consciousness. It is categorized based on EEG features, etiologies, and comorbidities. Developmental Encephalopathy (DE) involves developmental delays and early-onset seizures without causing developmental regression. In contrast, Epileptic Encephalopathy (EE) features severe epilepsy syndromes where frequent seizures result in developmental delays or regression.Methods: This review explores the clinical definitions, epidemiology, and diagnostic criteria for DE, EE, and DEEs. It covers their etiologies, clinical features, diagnostic methods, and treatment strategies, including genetic, structural, metabolic, and immune-related factors.Results: DE features developmental impairment with epilepsy, while EE involves severe epilepsy causing cognitive and behavioral dysfunction. DEEs are marked by early-onset severe epilepsy and EEG abnormalities that worsen developmental impairments. Essential diagnostic tools include EEG, neuroimaging, and genetic testing. Effective management requires personalized interventions to control seizures and address cognitive deficits.Conclusion: DEEs are a complex epilepsy subset with major developmental and cognitive challenges. Early diagnosis and targeted treatments are crucial for improving outcomes. Ongoing research into DEEs' genetic and pathophysiological mechanisms is key to enhancing understanding and management.
Deciphering Developmental Epileptic Encephalopathies (DEE): Unravelling the Key Signs Suryawijaya, Evlyne Erlyana; Lokito, Shania
Medicinus Vol. 13 No. 3 (2024): June
Publisher : Fakultas Kedokteran Universitas Pelita Harapan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.19166/med.v13i3.8882

Abstract

Background: Epilepsy, a chronic neurological disorder affecting over 50 million people worldwide, is marked by recurrent seizures and loss of consciousness. It is categorized based on EEG features, etiologies, and comorbidities. Developmental Encephalopathy (DE) involves developmental delays and early-onset seizures without causing developmental regression. In contrast, Epileptic Encephalopathy (EE) features severe epilepsy syndromes where frequent seizures result in developmental delays or regression.Methods: This review explores the clinical definitions, epidemiology, and diagnostic criteria for DE, EE, and DEEs. It covers their etiologies, clinical features, diagnostic methods, and treatment strategies, including genetic, structural, metabolic, and immune-related factors.Results: DE features developmental impairment with epilepsy, while EE involves severe epilepsy causing cognitive and behavioral dysfunction. DEEs are marked by early-onset severe epilepsy and EEG abnormalities that worsen developmental impairments. Essential diagnostic tools include EEG, neuroimaging, and genetic testing. Effective management requires personalized interventions to control seizures and address cognitive deficits.Conclusion: DEEs are a complex epilepsy subset with major developmental and cognitive challenges. Early diagnosis and targeted treatments are crucial for improving outcomes. Ongoing research into DEEs' genetic and pathophysiological mechanisms is key to enhancing understanding and management.
Tuberculoma With Visual and Vestibular Symptoms in A β-Thalassemia Patient: A Case Report Suryawijaya, Evlyne Erlyana; Ariarini, Ni Nengah Rida; Diafiri, Dinda; Dewati, Eva; Sitorus, Freddy
Medicinus Vol. 14 No. 3 (2025): June
Publisher : Fakultas Kedokteran Universitas Pelita Harapan

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.19166/med.v14i3.10163

Abstract

Background: Tuberculosis (TB) is an infectious disease caused by Mycobacterium tuberculosis, which can affect the lungs (pulmonary TB) as well as other organs (extrapulmonary TB), including the central nervous system (CNS). The number of TB cases in Indonesia remains high, with 969,000 cases reported in 2021. Tuberculoma is a manifestation of TB in the CNS, presenting as an intracranial mass due to the spread of TB from other organs. It is a rare and serious form of CNS TB infection. The presence of congenital β-thalassemia adds complexity to the pathogenesis, diagnosis, and treatment of tuberculoma. Case Description: A 25-year-old female with a history of β-thalassemia HbE intermedia with a major phenotype presented with the main complaint of blurred vision in the lower right visual field. The patient also experienced vertigo, headache, and a history of seizures. Examination revealed inferior right quadrantanopia, anemia, leukopenia, and thrombocytopenia. Imaging and CSF analysis supported a diagnosis of intracranial tuberculoma. The patient was treated with anti-TB medication and intravenous dexamethasone. Discussion: Patients with thalassemia may have an increased risk of TB infection, including CNS TB. Tuberculoma involves granuloma formation in the brain, often in the meninges and cerebrum. Its manifestations vary and can include headaches and seizures. Diagnosis is based on clinical history, radiological findings, and laboratory results. The patient’s symptoms and imaging findings supported a diagnosis of tuberculoma, for which anti-TB and neurorestorative therapy was administered. Conclusions: Tuberculoma, as a manifestation of CNS TB, presents with variable and non-specific symptoms. Visual field disturbances can be one of the presenting symptoms that aid in diagnosis. Clinical, radiological, and laboratory evaluations are necessary for prompt and accurate diagnosis. Treatment involves anti-TB therapy and dexamethasone. This case highlights the importance of early diagnosis and comprehensive management of complex extrapulmonary TB infections.