Results 21 to 30 of about 2,367 (191)

Delayed diagnosis of shunt overdrainage following functional hemispherotomy and ventriculoperitoneal shunt placement in a hemimegalencephaly patient

Epilepsy and Behavior Case Reports, 2017
Shunt overdrainage represents a nebulous condition of variable clinical and imaging presentations, where the diagnosis is primarily clinical. The condition presents a diagnostic challenge particularly in patients with cognitive impairment and ...
Yasunori Nagahama, David Peters, Sho Kumonda, Adam Vesole, Charuta Joshi, Brian J. Dlouhy, Hiroto Kawasaki   +6 more
doaj   +2 more sources

A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain. [PDF]

Epilepsia
Abstract Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy.
Fazekas F, Haboosheh A, Hennebichler B, Roetzer-Pejrimovsky T, Binder J, Reischer T, Pfeifer M, Scharrer A, Worda C, Linder T, Farr A, Höftberger R, Gelpi E, Mitter C, Kasprian G, Haberler C, Amberg N.   +16 more
europepmc   +2 more sources

Focal Cortical Dysplasia Type II: Somatic Mutations, Molecular Mechanisms, and Integrative Multi-Omics Framework. [PDF]

CNS Neurosci Ther
Focal cortical dysplasia Type II (FCD II) is a major cause of drug‐resistant epilepsy and is commonly associated with somatic brain mutations in the PI3K–AKT–mTOR pathway. The timing, cell lineage, and spatial distribution of somatic variants influence lesion formation.
Li Z, Wang Y, Shi J, Luo Y, Shan Y, Zhao G.   +5 more
europepmc   +2 more sources

Macrodystrophia Lipomatosa: A Rare Case of Right Lower Extremity Gigantism Associated With Syndactyly. [PDF]

Clin Case Rep
ABSTRACT Macrodystrophia lipomatosa (MDL) is a rare sporadic, nonhereditary developmental condition, typically presenting at birth or in early childhood. It is characterized by progressive overgrowth of tissues, mainly due to excess fibrofatty tissue proliferation. This abnormal growth commonly involves nerve sheath, muscle, periosteum, and bone marrow.
Shehzadi HS, Atif S, Dogar IH, Siddique U, Kamil KA.   +4 more
europepmc   +2 more sources

Hemimegalencephaly without seizures: Report of a case and review of literature [PDF]

, 2017
Hemimegalencephaly is a rare malformation of the brain characterized by enlargement of one cerebral hemisphere. The classic clinical triad consists of intractable epilepsy, severe psychomotor delay and hemiparesis.
Gautam, Dutta, Daljit, Singh, Atul, Agrawal, Deepashu, Sachdeva, Robin, Gupta   +4 more
core   +2 more sources

Posterior quadrantic dysplasia: An unusual cause of focal seizures

Archives of Medicine and Health Sciences, 2021
Hemimegalencephaly (HME) is one of the rare malformations of cortical development that can present in children and in adults with refractory seizures. One of the localized forms of HME is posterior quadrantic dysplasia (PQD).
Krishnan Balagopal, Jeyaseelan Nadarajah, Jasica Joy Thottiyil   +2 more
doaj   +1 more source

A rare case of hemimegalencephaly diagnosed prenatally [PDF]

, 2022
Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital brain malformation defined asovergrowth of one cerebral hemisphere or part of it resulting from abnormal cortical development and neuronalmigration.
Huras, Hubert; Department of Obstetrics and Perinatology, Jagiellonian University Medical College, Cracow, Poland, Duczkowska, Agnieszka; Department of Diagnostic Imaging Institute of Mother and Child, Warsaw, Poland, Wojtowicz, Anna; Department of Obstetrics and Perinatology, Jagiellonian University Medical College, Cracow, Poland, Anna Wojtowicz, Hubert Huras, Agnieszka Duczkowska, Duczkowska, Agnieszka, Huras, Hubert, Wójtowicz, Anna   +8 more
core   +1 more source

Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma

Journal of Pediatric Neurosciences, 2015
Hemimegalencephaly is a disorder of cortical malformation and is associated with various disorders including various neurocutaneous syndromes and many seizure types.
Vykuntaraju K Gowda, Ashwini Bhat, Maya Bhat, Premalatha Ramaswamy   +3 more
doaj   +1 more source

Glioblastoma Multiforme in a Patient with Isolated Hemimegalencephaly

Journal of Neurological Surgery Reports, 2015
We present an exceptional case of a patient with hemimegalencephaly and secondary intractable epilepsy treated with vagus nerve stimulation (VNS) and subsequent glioblastoma development in the hemimegalencephalic hemisphere 6 years after surgery. VNS (at
Jan Chrastina, Zdenek Novak, Milan Brazdil, Marketa Hermanova   +3 more
doaj   +1 more source

Diffusion Tensor Imaging and Quantitative Magnetic Resonance Volumetric Assessment in the Diagnosis of Hemimegalencephaly: A Case Report

대한영상의학회지, 2019
A 27-year-old female presented with repeated seizures. As the left frontal lobe volume was enlarged in comparison with the right frontal lobe, hemimegalencephaly was suggested.
Seung-Jin Yoo, Ji Young Lee, Young-Jun Lee, Dong Woo Park, Tae-Yoon Kim, Hee-Jin Kim   +5 more
doaj   +1 more source