Results 1 to 10 of about 2,873 (179)

Multi‐disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series [PDF]

Epilepsia Open
Recent genetic studies have revealed that hemimegalencephaly (HME) is a multi‐system disorder associated with germline or mosaic variants within the PI3K‐mTOR‐GATOR1 signaling pathways.
Benjamin Edmonds, Jacqueline P. Ngo, Aran Groves, Beck Reyes, Rolanda A. Gott, Dennis J. Chia, Hilda Mirbaha, Shino Magaki, Negar Khanlou, Stacy L. Pineles, Noriko Salamon, Rachel M. Thompson, Maya Newman, Rajsekar R. Rajaraman, Shaun A. Hussain, Aria Fallah, Bianca Russell, Hiroki Nariai   +17 more
doaj   +4 more sources

A case of acute functional hemispherotomy in a young woman with hemimegalencephaly and super-refractory status epilepticus [PDF]

Epilepsy & Behavior Reports
Status epilepticus (SE) is a critical medical emergency that demands immediate and effective intervention. We report a unique case involving a 21-year-old woman with left hemimegalencephaly who was hospitalized for super-refractory status epilepticus ...
Kjell Heuser, Luis Romundstad, Jugoslav Ivanovic, Arild Egge, Erik Sætre, Kristin Alfstad, Line Sveberg, Line Bedos Ulvin, Erik Taubøll   +8 more
doaj   +2 more sources

Hemimegalencephaly with prominent ipsilateral facial hypertrophy [PDF]

Marshall Journal of Medicine, 2018
Hemimegalencephaly is uncommon congenital malformation with unilateral enlargement of the hemicerebrum. Here we report a 1 month-old male child presented at our neurosurgery outpatient’s clinic with recurrent seizures and facial asymmetry.
Seraj Saleh Ajaj, Faisal Bentaleb, Jamal Elasfer, Khawla Shlaibek   +3 more
doaj   +2 more sources

Newborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review. [PDF]

Neuropediatrics
Hemimegalencephaly (HME) is a rare congenital disorder that is initiated during embryonic development with abnormal growth of one hemisphere. Tuberous sclerosis complex (TSC), a genetic disorder, is rarely associated with HME.
Rondagh M, de Vries LS, Meeren LEV, Tromp SC, Peeters-Scholte CMPCD, Toirkens MJP, Steggerda SJ.   +6 more
europepmc   +4 more sources

Hemimegalencephaly and Epileptic Encephalopathy Associated with a Variant of Uncertain Significance of the TRIO Gene [PDF]

Modern Medicine, 2022
Objectives: Electrical status epilepticus during sleep (ESES) is a type of EEG pattern seen in children with childhood-onset epileptic seizures and cognitive, language and motor regression.
Eugenia ROZA, Ramona ANDREI, Raluca Ioana TELEANU   +2 more
doaj   +1 more source

Magnetic resonance imaging findings of two cases with West syndrome and hypomelanosis of Ito with hemimegalencephaly: a report of two cases

The Egyptian Journal of Radiology and Nuclear Medicine, 2022
Background Hemimegalencephaly is an unusual congenital non-familial malformation of the brain which is characterized by enlargement of the whole or part of one hemisphere due to neural proliferation and dysfunction in the cell migration.
Erkan Gökçe, Murat Beyhan, Şükrüye Firuze Ocak Karataş   +2 more
doaj   +1 more source

Hemimegalencephaly and intractable focal seizures related to NPRL3 mutation with variable familial expressivity treated with anatomic hemispherectomy

Annals of the Child Neurology Society, 2023
Introduction Hemimegalencephaly is a syndrome of dysplastic cortical formation, with hamartomatous overgrowth of a cerebral hemisphere, classically associated with intractable focal epilepsy, hemiparesis, and hemianopia.
Richard B. Carozza, Robert P. Naftel, Asha Sarma, Emma G. Carter   +3 more
doaj   +1 more source

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

Diagnostics, 2021
De novo somatic variants in genes encoding components of the PI3K–AKT3–mTOR pathway, including MTOR, have been linked to hemimegalencephaly or focal cortical dysplasia.
Krzysztof Szczałuba, Małgorzata Rydzanicz, Anna Walczak, Joanna Kosińska, Agnieszka Koppolu, Anna Biernacka, Katarzyna Iwanicka-Pronicka, Wiesława Grajkowska, Elżbieta Jurkiewicz, Paweł Kowalczyk, Rafał Płoski   +10 more
doaj   +1 more source

Hemimegalencephaly: A rare congenital malformation of cortical development

Clinical Case Reports, 2021
Hemimegalencephaly is a rare congenital malformation of cortical development usually associated with developmental delay and refractory epilepsy that sooner or later require hemispherectomy.
Vikash Jaiswal, Muhammad Hanif, Zouina Sarfraz, Gaurav Nepal, Sidra Naz, Dattatreya Mukherjee, Samir Ruxmohan   +6 more
doaj   +1 more source

Hemispherotomy in Infants with Hemimegalencephaly: Long-Term Seizure and Developmental Outcome in Early Treated Patients

Brain Sciences, 2022
Hemimegalencephaly (HME) is a rare brain congenital malformation, consisting in altered neuronal migration and proliferation within one hemisphere, which is responsible for early onset drug-resistant epilepsy.
Chiara Pepi, Alessandro De Benedictis, Maria Camilla Rossi-Espagnet, Simona Cappelletti, Martina Da Rold, Giovanni Falcicchio, Federico Vigevano, Carlo Efisio Marras, Nicola Specchio, Luca De Palma   +9 more
doaj   +1 more source