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A case of closedlip schizencephaly with absent septum pellucidum in an adult presenting with seizure disorder

KEY CLINICAL MESSAGE: To rule out underlying developmental brain defects such as schizencephaly, pediatric seizures necessitate a thorough examination. Adults who receive a diagnosis later in life may face severe management and prognosis difficulties. To avoid underdiagnosis of developing brain abno...

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Detalles Bibliográficos
Autores principales: Khadka, Chhabi, Gupta, Umang, Bhandari, Prakriti, Pandey, Prabin, Paudel, Shailes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10264959/
https://www.ncbi.nlm.nih.gov/pubmed/37323273
http://dx.doi.org/10.1002/ccr3.7536
Descripción
Sumario:KEY CLINICAL MESSAGE: To rule out underlying developmental brain defects such as schizencephaly, pediatric seizures necessitate a thorough examination. Adults who receive a diagnosis later in life may face severe management and prognosis difficulties. To avoid underdiagnosis of developing brain abnormalities, imaging should be a part of the workup for pediatric seizures. Imaging is critical to the diagnosis and therapy of such cases. ABSTRACT: Closed‐lip schizencephaly with the absence of the septum pellucidum is a rare congenital malformation of the brain that can be associated with a variety of neurological conditions. We report the case of a 25‐year‐old male with left hemiparesis who presented with recurrent seizures from childhood, poorly controlled with medications, and increased tremors. He has been taking anticonvulsant for the last 7 years and is under symptomatic management. Magnetic resonance imaging of the brain revealed closed‐lip schizencephaly with absent septum pellucidum.