Schizencephaly is a very rare neurological disorder usually discovered during radiological evaluation of children and young adults with seizure disorders or neurodevelopmental anomalies. We present a 66-year-old patient with right-sided hemiatrophy and paresis presenting with an adult-onset seizure disorder. Her seizure was satisfactorily controlled with a single-therapy antiseizure drug. Congenital brain lesions should be part of the differential diagnoses in patients with epilepsy who have body asymmetry dated back to childhood.
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http://dx.doi.org/10.4103/ajns.AJNS_293_19 | DOI Listing |
Epilepsia Open
December 2024
Department of Neurology, The First Medical Center of Chinese PLA General Hospital, Beijing, China.
Objective: To analyze the clinical characteristics, etiology, drug treatment, and related factors of patients with young adult-onset epilepsy.
Methods: The study included patients with epilepsy aged between 18 and 44 years and aimed to analyze the clinical characteristics of epilepsy in young people and their response to antiseizure medication (ASM) over a 24-year period (February 1999 and March 2023).
Results: A total of 4227 patients experienced epilepsy onset between 18 and 44 years of age.
Epilepsy Behav Rep
October 2024
Department of Psychiatry and Psychotherapy, Philipps-University Marburg, Marburg, Germany.
This case series describes the clinical features, diagnostic challenges, treatment approaches, and outcomes of three adult patients with COQ8A-related CoQ10 deficiency presenting with focal status epilepticus, who were effectively treated at the Department of Neurology, Philipps University Marburg, Marburg, Germany. The patients, all from consanguineous families with the first two being siblings, presented with a late onset of the disease, characterized by progressive cerebellar ataxia and epilepsy, with clinical deterioration and focal status epilepticus occurring in adulthood. The first patient exhibited myoclonic status, while the second and third patients presented with bilateral tonic-clonic seizures followed by focal status epilepticus manifesting with cortical blindness.
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December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
Epileptic Disord
December 2024
Department of Neurology, Seoul National University Hospital, and College of Medicine, Seoul National University, Seoul, Korea.
Seizure
November 2024
Department of Neurology, AIIMS, New Delhi.
Introduction: Neuronal Ceroid Lipofuscinosis (NCL) are a group of lysosomal storage disorders characterised by progressive neurodegeneration caused by an accumulation of ceroid lipopigment in lysosomes of neurons and other cell types. Adult-onset NCL (Kufs disease) differs from childhood forms by its later onset and preserved vision. Type A (Kufs A) presents as progressive myoclonus epilepsy (PME), while Type B (Kufs B) manifests as dementia with motor involvement.
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