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Richard A Prayson
OBJECTIVES: Hyaline protoplasmic astrocytopathy is a rare condition marked by the accumulation of various proteins in the cytoplasm of protoplasmic astrocytes. METHODS: This study retrospectively reviews the clinicopathologic features of 14 patients (nine females; mean age, 9.1 years) with hyaline protoplasmic astrocytopathy. RESULTS: Patients had chronic seizures (mean duration, 101.1 months); mean age at seizure onset was 6.9 months. Three patients had Aicardi syndrome, and one patient had tuberous sclerosis...
October 2016: American Journal of Clinical Pathology
Harvey B Sarnat, Laura Flores-Sarnat
After sagittal division of the prosencephalon at 4.5 weeks of gestation, the early fetal cerebral hemisphere bends or rotates posteroventrally from seven weeks of gestation. The posterior pole of the telencephalon thus becomes not the occipital but the temporal lobe as the telencephalic flexure forms the operculum and finally the lateral cerebral or Sylvian fissure. The ventral part is infolded to become the insula. The frontal and temporal lips of the Sylvian fissure, as well as the insula, all derive from the ventral margin of the primitive telencephalon, hence may be influenced by genetic mutations with a ventrodorsal gradient of expression...
October 2016: Pediatric Neurology
PrastiyaIndra Gunawan, Lusiana Lusiana, Darto Saharso
Objective Proteus syndrome is a rare overgrowth disorder including bone, soft tissue, and skin. Central nervous system manifestations were reported in about 40% of the patients including hemimegalencephaly and the resultant hemicranial hyperplasia, convulsions and mental deficiency. We report a 1-month-old male baby referred to Pediatric Neurology Clinic Soetomo Hospital, Surabaya, Indonesia in 2014 presented recurrent seizures since birth with asymmetric dysmorphic face with the right side larger than the left, subcutaneous mass and linear nevi...
2016: Iranian Journal of Child Neurology
S Baulac
Focal epilepsies, where seizures initiate in spatially limited networks, are the most frequent epilepsy type, accounting for two-thirds of patients. Focal epilepsies have long been thought to be acquired disorders; several focal epilepsy syndromes are now proven to be (genetically heterogeneous) monogenic disorders. While earlier genetic studies have demonstrated a strong contribution of ion channel and neurotransmitter receptor genes, or synaptic secreted protein genes, later work has revealed a new class of genes encoding components of the mechanistic target of rapamycin (mTOR) signal transduction pathway...
2016: Progress in Brain Research
A G Melikyan, Yu V Kushel', A N Vorob'ev, N A Arkhipova, V S Sorokin, N V Lemeneva, I A Savin, I N Pronin, A B Kozlova, O A Grinenko, S B Buklina, I A Nagorskaya
INTRODUCTION AND PURPOSE: Hemispherectomy is a recognized option in the treatment of symptomatic forms of intractable focal epilepsy in patients with developmental brain malformations and some acquired lesions of one the hemispheres. The prognosis for an outcome of the technique is important in terms of the indications for surgical treatment. MATERIAL AND METHODS: We described the hemispherectomy technique and its variants and analyzed our own experience of surgery in 40 children...
2016: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
Ghayda M Mirzaa, Catarina D Campbell, Nadia Solovieff, Carleton P Goold, Laura A Jansen, Suchithra Menon, Andrew E Timms, Valerio Conti, Jonathan D Biag, Carissa Olds, Evan August Boyle, Sarah Collins, Gisele Ishak, Sandra L Poliachik, Katta M Girisha, Kit-San Yeung, Brian Hon Yin Chung, Elisa Rahikkala, Sonya A Gunter, Sharon S McDaniel, Colleen Forsyth Macmurdo, Jonathan A Bernstein, Beth Martin, Rebecca J Leary, Scott Mahan, Shanming Liu, Molly Weaver, Michael O Dorschner, Shalini Jhangiani, Donna M Muzny, Eric Boerwinkle, Richard A Gibbs, James R Lupski, Jay Shendure, Russell P Saneto, Edward J Novotny, Christopher J Wilson, William R Sellers, Michael P Morrissey, Robert F Hevner, Jeffrey G Ojemann, Renzo Guerrini, Leon O Murphy, Wendy Winckler, William B Dobyns
IMPORTANCE: Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly constitute a spectrum of malformations of cortical development with shared neuropathologic features. These disorders are associated with significant childhood morbidity and mortality. OBJECTIVE: To identify the underlying molecular cause of FCD, hemimegalencephaly, and diffuse megalencephaly. DESIGN, SETTING, AND PARTICIPANTS: Patients with FCD, hemimegalencephaly, or megalencephaly (mean age, 11...
July 1, 2016: JAMA Neurology
Iulian Raus, Adela Mihaela Vintan, Roxana Elena Coroiu
Hemimegalencephaly on magnetic resonance imaging scan (MRI) consists of cortical gray matter almost uniformly abnormal, areas of increased thickness of the cortical gray matter (GM), abnormal gyral patterns, blurring of the grey-white matter transition, atrophy or hemispheric hypertrophy, demyelination, gliosis. We present a case of ten-year-old boy with a history of infantile spasms and developmental delay who presented to the pediatric neurology room with an episode of disinhibited behavior in family environment...
2016: Clujul Medical (1957)
Rita Citraro, Antonio Leo, Andrew Constanti, Emilio Russo, Giovambattista De Sarro
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes. Excessive activation of mTOR signaling, as a consequence of loss-of-function of genes encoding for tuberous sclerosis complex (TSC) 1 and 2, is linked to the development of cortical malformations and epilepsy. This mTOR hyperactivation is associated with different epileptogenic conditions under the term of 'mTORopathies' such as tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly and ganglioglioma...
May 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Gavin B Rice, Nitin R Wadhwani
Investigators from Seattle Children's Research Institute, University of Washington, and collaborating institutions sought to evaluate 10 genes in the PI3K/AKT pathway as it relates epileptogenic brain malformations in patients with megalencephaly, hemimegalencephaly, and focal cortical dysplasia.
July 2015: Pediatric neurology briefs
Erin N Kiehna, Elysa Widjaja, Stephanie Holowka, O Carter Snead, James Drake, Shelly K Weiss, Ayako Ochi, Eric M Thompson, Cristina Go, Hiroshi Otsubo, Elizabeth J Donner, James T Rutka
OBJECT Hemispherectomy for unilateral, medically refractory epilepsy is associated with excellent long-term seizure control. However, for patients with recurrent seizures following disconnection, workup and investigation can be challenging, and surgical options may be limited. Few studies have examined the role of repeat hemispherotomy in these patients. The authors hypothesized that residual fiber connections between the hemispheres could be the underlying cause of recurrent epilepsy in these patients. Diffusion tensor imaging (DTI) was used to test this hypothesis, and to target residual connections at reoperation using neuronavigation...
April 2016: Journal of Neurosurgery. Pediatrics
Doris D Wang, Renatta Knox, John D Rolston, Dario J Englot, A James Barkovich, Tarik Tihan, Kurtis I Auguste, Robert C Knowlton, Susannah B Cornes, Edward F Chang
OBJECTIVE: Polymicrogyria (PMG) is a malformation of cortical development characterized by formation of an excessive number of small gyri. Sixty percent to 85% of patients with PMG have epilepsy that is refractory to medication, but surgical options are usually limited. We characterize a cohort of patient with polymicrogyria who underwent epilepsy surgery and document seizure outcomes. METHODS: A retrospective study of all patients with PMG who underwent epilepsy surgery (focal seizure foci resection and/or hemispherectomy) at our center was performed by review of all clinical data related to their treatment...
January 2016: Epilepsia
Achira Roy, Jonathan Skibo, Franck Kalume, Jing Ni, Sherri Rankin, Yiling Lu, William B Dobyns, Gordon B Mills, Jean J Zhao, Suzanne J Baker, Kathleen J Millen
Mutations in the catalytic subunit of phosphoinositide 3-kinase (PIK3CA) and other PI3K-AKT pathway components have been associated with cancer and a wide spectrum of brain and body overgrowth. In the brain, the phenotypic spectrum of PIK3CA-related segmental overgrowth includes bilateral dysplastic megalencephaly, hemimegalencephaly and focal cortical dysplasia, the most common cause of intractable pediatric epilepsy. We generated mouse models expressing the most common activating Pik3ca mutations (H1047R and E545K) in developing neural progenitors...
2015: ELife
Ahmed Abdel Khalek Abdel Razek, Mauricio Castillo
We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft...
January 2016: Journal of Computer Assisted Tomography
Margie Ream
Hypomelanosis of Ito, initially referred to as incontinentia pigmenti achromians, is a rare neurocutaneous disorder. Hypopigmented lesions following the lines of Blaschko are usually the presenting feature. Multiple organ systems can be involved including brain, musculoskeletal, cardiovascular, eyes, kidneys, and teeth. The neurologic complications can include seizures, hemimegalencephaly, developmental delay and abnormalities in tone. Genetic mosaicism is the most likely explanation for its inheritance. It must be distinguished from incontinentia pigmenti because at early stages, skin lesions can appear similar between the two conditions...
2015: Handbook of Clinical Neurology
Laura Flores-Sarnat, Harvey B Sarnat
Epidermal nevus syndrome (ENS) is a term that encompasses several phenotypes defined by the association of an epidermal nevus with one or more congenital systemic anomalies, mainly ocular, osseous and cerebral. The two most frequent, keratinocytic nevus syndrome and linear sebaceous nevus syndrome, also correspond to the neurological phenotypes. They both exhibit overlapping and distinctive features but same etiology: post-zygotic mosaic mutations in RAS genes. Their pathogenesis is due to defective neural crest, further confirming that they are the same basic entity contradicting the concept that they are a group of heterogeneous syndromes with different etiologies...
2015: Handbook of Clinical Neurology
Cameron Mroske, Kristen Rasmussen, Deepali N Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M Baxter, Elizabeth McPherson, Sha Tang
BACKGROUND: In humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain. MTOR functions as an integrator of multiple cellular processes, and in so doing either directly or indirectly regulates the phosphorylation of at least 800 proteins. While somatic MTOR mutations have been recognized in tumors for many years, and more recently in hemimegalencephaly, germline MTOR mutations have rarely been described...
2015: BMC Medical Genetics
Bilal Battal, Selami Ince, Veysel Akgun, Murat Kocaoglu, Emrah Ozcan, Mustafa Tasar
Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images...
October 28, 2015: World Journal of Radiology
Yoichi Ono, Yoshiaki Saito, Yoshihiro Maegaki, Jun Tohyama, Hesham Montassir, Shinya Fujii, Kenji Sugai, Kousaku Ohno
AIM: To delineate the clinical and neuroimaging characteristics of localized megalencephaly involving the right frontal lobe. METHOD: Data from three patients aged 14-16 years at the last follow-up were retrospectively reviewed. RESULTS: All the patients were normal on neurological examination with no signs of hemiparesis. Enlargement of the right frontal lobe with increased volume of subcortical and deep white matter, as well as thickening of the ipsilateral genu of the corpus callosum was common...
March 2016: Brain & Development
Masaki Iwasaki, Mitsugu Uematsu, Shin-Ichiro Osawa, Yoshiteru Shimoda, Kazutaka Jin, Nobukazu Nakasato, Teiji Tominaga
PURPOSE: Hemispheric epileptogenic lesions such as hemimegalencephaly often manifest as intractable epilepsy in early infancy. Hemispherotomy is the treatment of choice for controlling intractable hemispheric epilepsy. Less invasive procedures are desirable for surgery on infants with low body weight. This study compared our experience with interhemispheric vertical hemispherotomy (IVH) and peri-insular lateral hemispherotomy (PIH). METHODS: Thirteen consecutive patients underwent hemispherotomy for treatment of intractable epilepsy in our institution between 2001 and 2012...
2015: Pediatric Neurosurgery
Jan Chrastina, Zdenek Novak, Milan Brazdil, Marketa Hermanova
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 age 18 years) led to a 60% reduction of intractable seizures. However, symptoms of intracranial hypertension suddenly occurred 6 years after surgery. A computed tomography scan revealed a brain tumor in the hemimegalencephalic hemisphere. Pathologic examination confirmed glioblastoma multiforme...
July 2015: Journal of Neurological Surgery Reports
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