A hemimegalencefalia é uma malformação cerebral rara caracterizada pelo crescimento excessivo de todo ou parte de um hemisfério cerebral, muitas vezes com displasia ou disgenesia cortical grave ipsilateral, hipertrofia da substância branca e ventrículo lateral dilatado, apresentando-se na primeira infância com hemiparesia progressiva, retardo psicomotor grave e convulsões intratáveis. A hemimegalencefalia pode ser um achado isolado ou associada a outras síndromes, como síndrome angioosteohipertrófica, síndrome do nevo epidérmico e hipomelanose de Ito. O manejo inclui controle das crises com medicamentos antiepilépticos e hemisferectomia precoce.
Introdução
O que você precisa saber de cara
A hemimegalencefalia é uma malformação cerebral rara caracterizada pelo crescimento excessivo de todo ou parte de um hemisfério cerebral, muitas vezes com displasia ou disgenesia cortical grave ipsilateral, hipertrofia da substância branca e ventrículo lateral dilatado, apresentando-se na primeira infância com hemiparesia progressiva, retardo psicomotor grave e convulsões intratáveis. A hemimegalencefalia pode ser um achado isolado ou associada a outras síndromes, como síndrome angioosteohipertrófica, síndrome do nevo epidérmico e hipomelanose de Ito. O manejo inclui controle das crises com medicamentos antiepilépticos e hemisferectomia precoce.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
3 genes identificados com associação a esta condição. Padrão de herança: Not applicable.
AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an impo
NucleusCytoplasmMembrane
Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:12231510, PubMed:12718876, PubMed:14651849, PubMed:15268862, PubMed:15467718, PubMed:15545625, PubMed:15718470, PubMed:18497260, PubMed:18762023, PubMed:18925875, PubMed:20516213, PubMed:20537536, PubMed:21659604, PubMed:23429703, PubMed:23429704, PubMed:257
Lysosome membraneEndoplasmic reticulum membraneGolgi apparatus membraneCell membraneMitochondrion outer membraneCytoplasmNucleusNucleus, PML bodyMicrosome membraneCytoplasmic vesicle, phagosome
Smith-Kingsmore syndrome
An autosomal dominant syndrome characterized by intellectual disability, macrocephaly, seizures, umbilical hernia, and facial dysmorphic features.
Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain-containing proteins to the membrane, including AKT1 and PDPK1,
Variantes genéticas (ClinVar)
717 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 8 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
64 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Megalencefalia unilateral
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.
Parasagittal vertical hemispherotomy (PSVH) is a surgical technique increasingly adopted in epilepsy centers worldwide, providing excellent seizure control in children with drug-resistant epilepsy (DRE) due to unilateral hemispheric abnormalities. We report a case of a 5-year-old girl with DRE secondary to hemimegalencephaly and treated with PSVH. At 11 months postoperatively, the patient achieved complete seizure freedom without major complications. This successful case supports the effectiveness and safety of PSVH in managing DRE caused by unilateral hemispheric lesions and highlights the importance of early surgical intervention in this pediatric population. PSVH achieves reliable seizure control with reduced surgical morbidity and favorable functional outcomes in children with hemispheric epileptogenic disorders.
Hemispherectomy in infants: an institutional experience with 21 patients.
Drug-resistant epilepsy (DRE) can arise early in life due to multiple structural abnormalities. In patients with the disorder, seizures can be difficult to control and can significantly impair neurodevelopment. Hemispherectomy is well described as a treatment for refractory hemispheric-onset epilepsy, but its use in infants has been limited due to concerns over surgical risk and physiological tolerance. The aim of this review was to summarize an institutional experience with hemispherectomy in infants to demonstrate the safety and efficacy of the technique. A retrospective chart review was conducted to identify children younger than 1 year of age who had undergone a modified functional hemispherectomy combining elements of both hemispherotomy and anatomical resection to treat DRE at Seattle Children's Hospital from 2000 to 2024. The primary outcome was favorable seizure outcome, defined as Engel class I-II at the 1-year follow-up. Secondary outcomes included perioperative complications, development of postoperative hydrocephalus, need for long-term nutritional supplementation, and changes in the anti-seizure medication burden. Twenty-one children who had undergone functional hemispherectomy were identified, revealing a mean age of 6.2 months (range 0.93-12.3 months) at surgery. The most common etiology was hemimegalencephaly (n = 11, 52%). No serious cardiac, pulmonary, or coagulopathic adverse events occurred, although complications included asymptomatic cerebral venous sinus thrombosis (n = 1, 5%), postoperative hydrocephalus (n = 3, 14%), and electrolyte derangements (n = 1, 5%). The mean hospital stay was 12.5 days (range 6-34 days). Hydrocephalus developed > 12 months postoperatively in 2 (67%) of the 3 patients with this complication. The mean estimated blood loss was 345.8 mL (150-700 mL), and all patients received a transfusion during their surgery with a mean transfusion volume of 450.2 mL (60.4 mL/kg). Seizure outcomes were uniformly assessed at the last clinical follow-up, with a mean follow-up duration of 91.9 months (range 6.1-261.6 months). A favorable seizure outcome (Engel class I-II) was attained in 20 patients (95%), with an Engel class I outcome in 19 patients (90%). An institutional experience demonstrated that functional hemispherectomy is a safe and well-tolerated procedure in infants and offers excellent seizure control outcomes in hemispheric-onset epilepsies. The surgical technique, a focus on minimizing operative blood loss, and multidisciplinary care of these patients are critical elements in ensuring the safety and success of this procedure. Future studies are needed to better characterize long-term functional and neurodevelopmental outcomes in this age group.
Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
This retrospective cohort study evaluated the tolerability, efficacy, and safety of adjunctive cannabidiol (CBD) therapy in pediatric-onset intractable epilepsy across diverse genetic and nongenetic etiologies. Twenty-nine patients aged 6 to 24 years, treated at Korea University Hospitals between April 2019 and May 2024, were included. The median follow-up duration was 14.3 months. Confirmed genetic etiologies included SCN1A-related epilepsy (6.9%); GABRB3-, SCN2A-, KCNT1-, KIF1A-, and COL4A1-related epilepsies (3.4% each); Angelman syndrome and Down syndrome (3.4% each). Presumed genetic etiologies included hemimegalencephaly (3.4%) and cortical dysplasia (6.9%). Acquired causes included hypoxic brain injury (6.9%) and CNS infection (10.3%). In 41.4% of cases, the etiology was unidentified; among them, 58.3% had a history of infantile spasms. At CBD initiation, patients were receiving a median of 5 antiseizure medications, most commonly valproic acid (93.1%), clobazam (82.8%), and levetiracetam (75.9%). The median maintenance dose of CBD was 14.2 mg/kg/d. The retention rate was above 86% at both 12 and 24 months. At 12 months, 79.3% achieved a ≥50% reduction in seizure frequency, and 34.5% achieved a ≥75% reduction without generalized motor seizures. One patient with a GABRB3 variant achieved seizure freedom. Adverse events occurred in 37.9%, most commonly somnolence and lethargy. These were mild and resolved with antiseizure medication adjustments. CBD was discontinued in 3 patients due to pneumonia, lethargy, or seizure aggravation. CBD therapy demonstrated favorable retention, efficacy, and safety profiles in pediatric-onset intractable epilepsy across a spectrum of etiologies.
Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.
Cerebral salt-wasting syndrome (CSWS) is characterized by renal sodium loss following intracranial disorders, leading to hyponatremia, reduced extracellular volume, and dehydration. The mechanisms underlying CSWS remain unclear. To date, no reports have described the coexistence of arginine vasopressin deficiency (AVPD), also known as central diabetes insipidus (cDI), and CSWS following hemispherotomy. We report a case of cDI and CSWS occurring after hemispherotomy, in which CSWS improved following intubation. A 7-month-old girl with right hemimegalencephaly and cortical dysplasia underwent hemispherotomy. On postoperative day (POD) 1, AVPD was diagnosed and treated with intravenous AVP. By POD 3, she developed CSWS, characterized by increased urinary sodium excretion, decreased serum sodium levels, dehydration, polyuria, and negative fluid balance. Notably, CSWS improved markedly after intubation on POD 5. However, within one day of extubation, CSWS recurred on POD 8. Her condition gradually improved between POD 8 and POD 14. She is currently clinically stable, with her AVPD well-controlled. Conclusion: AVPD and CSWS can co-occur after hemispherotomy, even without hypothalamic-pituitary involvement. The improvement and recurrence of CSWS associated with intubation and extubation suggest that positive end-expiratory pressure may represent a novel therapeutic strategy for CSWS.
A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
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. To date, a detailed understanding of the neuropathological underpinnings of PTEN-associated brain malformations, particularly in fetuses, is missing. We have thus investigated a fetal case of hemimegalencephaly (HME), which is a rare disorder characterized by hemispheric overgrowth, developmental delay, and epileptic seizures. Our assessment of the male fetus includes genetic, radiologic, and histologic features and provides a comprehensive characterization of the cellular alterations in HME together with a genotypic correlation. Genetic analyses uncovered that hemispheric overgrowth was caused by a somatic second hit resulting in biallelic PTEN alteration in the affected brain tissue, although the unaffected hemisphere carried the same PTEN variant as the heterozygous germline variant. Based on the latter, we interpret that the PTEN mutation is not a dominant-negative variant. Within the outer subventricular zone of the enlarged cortex, we found small nodular heterotopias, which can be origins of focal epileptic seizures. Cell type-specific marker stainings revealed that the heterotopias consisted exclusively of SATB2+ glutamatergic projection neurons. Altogether, our analyses and findings contribute to a deeper understanding of the pathomechanisms of a novel PTEN variant driving a severe brain malformation.
Publicações recentes
Drug resistant epilepsy driven by RHEB gene variants - Current evidence and a novel report of a paedatric case.
Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.
Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
Hemispherectomy in infants: an institutional experience with 21 patients.
Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.
📚 EuropePMC276 artigos no totalmostrando 200
Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.
Surgical neurology internationalAdjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
MedicineHemispherectomy in infants: an institutional experience with 21 patients.
Journal of neurosurgery. PediatricsImprovement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyA novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
EpilepsiaMalformations of cortical development on fetal MRI.
Journal of clinical imaging scienceClinical and radiological evaluation of children with hemimegalencephaly and epilepsy: A single-center study.
SeizureTransarterial embolization versus hemispherectomy in infants with hemimegalencephaly and drug-resistant epilepsy.
Pediatric researchAssociations between fever following hemispherotomy, surgeon experience, and increased CSF protein.
Journal of neurosurgery. PediatricsPhase 1 study of ABI-009 (nab-rapamycin) for surgically refractory epilepsy (RaSuRE).
EpilepsiaElectrical Status Epilepticus in Sleep in a Patient with Hemimegalencephaly and Tuberous Sclerosis Complex.
Neurology IndiaTransarterial embolization for infants under 3 months of age with refractory seizures due to hemimegalencephaly: complication analysis and evolution of treatment strategy.
Journal of neurointerventional surgerymTORopathies in Epilepsy and Neurodevelopmental Disorders: The Future of Therapeutics and the Role of Gene Editing.
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Developmental medicine and child neurologyA Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.
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Brain communicationsNewborn with Refractory Seizures due to Hemimegalencephaly and Tuberous Sclerosis Complex: Case Report and Literature Review.
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Sudanese journal of paediatricsEpileptiform discharges in the context of self-limited pediatric focal epilepsy (EDSelFEC) in pediatric hemispherotomy patients: Role of white matter abnormalities.
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Ginekologia polskaPeriodic cycles of seizure clustering and suppression in children with epilepsy strongly suggest focal cortical dysplasia.
Developmental medicine and child neurologyPostmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.
Academic forensic pathologyAdult Hemimegalencephaly with Migraine as the First Symptom.
Neurology IndiaInfection-Induced Elevated Plasma Perampanel in a Patient with Hemimegalencephaly.
Case reports in pediatricsThe utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report.
Cold Spring Harbor molecular case studiesSomatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Brain : a journal of neurologyProfiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
Brain : a journal of neurologyPrenatal MR Imaging Phenotype of Fetuses with Tuberous Sclerosis: An Institutional Case Series and Literature Review.
AJNR. American journal of neuroradiologyEfficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalencephaly.
Pediatric emergency careCortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
International journal of molecular sciencesTreatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.
The Journal of experimental medicineHemispherectomy for hemimegalencephaly in a 6.5-week-old infant with tuberous sclerosis complex.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNeurodevelopmental Findings and Epilepsy in Malformations of Cortical Development.
Turkish archives of pediatricsCase Report: Hemispherotomy in the First Days of Life to Treat Drug-Resistant Lesional Epilepsy.
Frontiers in neurologyIctal and Interictal Arterial Spin Labelling (ASL) in Hemimegalencephaly.
Annals of Indian Academy of NeurologyHemimegalencephaly: A rare congenital malformation of cortical development.
Clinical case reportsViral expression of constitutively active AKT3 induces CST axonal sprouting and regeneration, but also promotes seizures.
Experimental neurology[Lessons learnt from 101 hemispheric pediatric epilepsy surgeries part ii: pitfalls and complications].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoMagnetic Resonance Imaging of Malformations of Cortical Development-A Comprehensive Review.
World neurosurgeryVertical hemispherotomy for drug-resistant epilepsy: Toward confirmation of the HOPS study.
Epilepsia[Lessons learnt from 101 hemispherotomies in children with symptomatic epilepsy. Part I: seizure outcome].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoIdentification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.
Cold Spring Harbor molecular case studiesEpilepsy Surgery: Special Circumstances.
Seminars in pediatric neurologyFunctional cognitive and language outcomes after cerebral hemispherectomy for hemimegalencephaly.
EpilepsiaPrecision Therapy for Epilepsy Related to Brain Malformations.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics[Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
Zhonghua er ke za zhi = Chinese journal of pediatricsEndoscopic Hemispherotomy for Nonatrophic Rasmussen's Encephalopathy.
Neurology IndiaRole of epilepsy surgery in refractory status epilepticus in children.
Epilepsy researchPostoperative seizure and developmental outcomes of children with hemimegalencephaly and drug-resistant epilepsy.
SeizureEpilepsy surgery in children under 3 years of age: surgical and developmental outcomes.
Journal of neurosurgery. PediatricsBrain 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 (Basel, Switzerland)Vertical parasagittal hemispherotomy: a case report of postoperative mesio-temporal seizures via amygdalofugal pathway.
Acta neurochirurgicaClinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyEpilepsy surgery in infants up to 3 months of age: Safety, feasibility, and outcomes: A multicenter, multinational study.
EpilepsiaPTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Brain : a journal of neurologyFunctional hemispherectomy: can preoperative imaging predict outcome?
Journal of neurosurgery. PediatricsThe Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.
AJNR. American journal of neuroradiologyEpileptic children with hemispheres' asymmetry. Quantitative brain magnetic resonance-based analysis of apparently unaffected hemisphere. Case-control study.
Epilepsy researchClonally Focused Public and Private T Cells in Resected Brain Tissue From Surgeries to Treat Children With Intractable Seizures.
Frontiers in immunologyDetection of Brain Somatic Mutations in Cerebrospinal Fluid from Refractory Epilepsy Patients.
Annals of neurologyClinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Genetics in medicine : official journal of the American College of Medical GeneticsRobotic thermocoagulative hemispherotomy: concept, feasibility, outcomes, and safety of a new "bloodless" technique.
Journal of neurosurgery. PediatricsRasmussen's encephalitis with persistent epilepsy in a young man.
Clinical case reportsNeuroimaging and genetic characteristics of malformation of cortical development due to mTOR pathway dysregulation: clues for the epileptogenic lesions and indications for epilepsy surgery.
Expert review of neurotherapeuticsHemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
American journal of medical genetics. Part AGanglionic Eminence Anomalies and Coexisting Cerebral Developmental Anomalies on Fetal MR Imaging: Multicenter-Based Review of 60 Cases.
AJNR. American journal of neuroradiologyPhosphorylation of S6 Protein as a Potential Biomarker in Surgically Treated Refractory Epilepsy.
Developmental neuroscienceThe Putative Role of mTOR Inhibitors in Non-tuberous Sclerosis Complex-Related Epilepsy.
Frontiers in neurologyClinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.
Orphanet journal of rare diseasesNeurite Outgrowth Inhibitor (NogoA) Is Upregulated in White Matter Lesions of Complex Cortical Malformations.
Journal of neuropathology and experimental neurologyA new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth.
Clinical geneticsGradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
Annals of clinical and translational neurologyNeuroimaging manifestations of epidermal nevus syndrome.
Quantitative imaging in medicine and surgeryHemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyDelayed transhemispheric propagation of electrographic seizures following functional hemispherectomy.
Clinical neurology and neurosurgeryCustom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.
Pediatric neurologyFailed Hemispherotomy: Insights from Our Early Experience in 40 Patients.
World neurosurgeryNeurocutaneous melanocytosis (melanosis).
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHemispherotomy for Epilepsy: The Procedure Evolution and Outcome.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesMosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Acta neuropathologicaHemi-Hemimegalencephaly or Posterior Quadrantic Dysplasia, a Rare Cause of Focal Epilepsy in an Otherwise Healthy Young Woman: A Case Report.
CureusDetailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Orphanet journal of rare diseasesStructural MRI and tract-based spatial statistical analysis of diffusion tensor imaging in children with hemimegalencephaly.
NeuroradiologyMaternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings.
Experimental and molecular pathologyPosterior quadrant disconnection for sub-hemispheric drug refractory epilepsy.
Neurology IndiaLong-term outcomes after surgery for catastrophic epilepsy in infants: institutional experience and review of the literature.
Journal of neurosurgery. PediatricsmTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Epilepsia openMeasure thrice, cut twice: On the benefit of reoperation for failed pediatric epilepsy surgery.
Epilepsy researchMinimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTransient water-electrolyte disturbance after hemispherotomy in young infants with epileptic encephalopathy.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA journey through formation and malformations of the neo-cortex.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPI3K/mTOR Pathway Inhibition: Opportunities in Oncology and Rare Genetic Diseases.
International journal of molecular sciencesGATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
EpilepsiaWidespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum.
Epileptic disorders : international epilepsy journal with videotapeImaging Findings of Klippel-Trenaunay Syndrome.
Journal of computer assisted tomographyPrenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyAn infant with epilepsy: don't forget the importance of skin examination.
BMJ case reportsDissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Acta neuropathologicaMegalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
American journal of medical genetics. Part C, Seminars in medical geneticsSomatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Human molecular geneticsCase 2: Asymmetrical Frontal Bossing and Refractory Seizures in a Newborn.
NeoReviewsInclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.
EpilepsiaLate adult-onset epilepsy in a patient with hemimegalencephaly.
Epileptic disorders : international epilepsy journal with videotapePhysical Growth of the Contralateral Cerebrum is Preserved After Hemispherotomy in Childhood.
Pediatric neurologyNew insights into a spectrum of developmental malformations related to mTOR dysregulations: challenges and perspectives.
Journal of anatomyThe Space-Time Continuum of Cortical Dysplasia.
Epilepsy currentsPosterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.
The neuroradiology journalPathological mTOR mutations impact cortical development.
Human molecular geneticsOutcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience.
Epilepsy & behavior : E&BThe role of somatic mutational events in the pathogenesis of epilepsy.
Current opinion in neurologyEvidence for Innate and Adaptive Immune Responses in a Cohort of Intractable Pediatric Epilepsy Surgery Patients.
Frontiers in immunologyContribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia.
Frontiers in pharmacologyMalformations of Cerebral Cortex Development: Molecules and Mechanisms.
Annual review of pathologyDisrupted cortico-ponto-cerebellar pathway in patients with hemimegalencephaly.
Brain & developmentApplication of Automated Brain Segmentation and Fiber Tracking in Hemimegalencephaly.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesmTOR Inhibitors as a New Therapeutic Strategy in Treatment Resistant Epilepsy in Hemimegalencephaly: A Case Report.
Journal of child neurologyEndoscope-assisted (with robotic guidance and using a hybrid technique) interhemispheric transcallosal hemispherotomy: a comparative study with open hemispherotomy to evaluate efficacy, complications, and outcome.
Journal of neurosurgery. PediatricsIdentification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epilepsy.
European journal of medical geneticsOxidative stress and inflammation in a spectrum of epileptogenic cortical malformations: molecular insights into their interdependence.
Brain pathology (Zurich, Switzerland)Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene.
Italian journal of pediatricsBrain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.
NeuronPosterior Quadrantic Dysplasia: MRI Diagnosis of a Lesser Known Cause of Pediatric Intractable Epilepsy.
Journal of pediatric neurosciencesHemimegalencephaly: Seizure Outcome in an Infant after Hemispherectomy.
Journal of pediatric neurosciencesThe 2016 Bernard Sachs Lecture: Timing in Morphogenesis and Genetic Gradients During Normal Development and in Malformations of the Nervous System.
Pediatric neurologyDysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.
Pediatric radiologyComplex observation of scalp fast (40-150 Hz) oscillations in West syndrome and related disorders with structural brain pathology.
Epilepsia openHemimyoclonus: A rare presentation of hemimegalencephaly.
Neurology IndiaHemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Epileptic disorders : international epilepsy journal with videotapeReview: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Neuropathology and applied neurobiologySomatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
Cell reportsDysplasia and overgrowth: magnetic resonance imaging of pediatric brain abnormalities secondary to alterations in the mechanistic target of rapamycin pathway.
NeuroradiologyTargeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.
Journal of child neurologyPeriinsular anterior quadrantotomy: technical note.
Journal of neurosurgery. PediatricsUnusual Cause of West Syndrome.
Journal of pediatric neurosciencesThe importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.
Journal of clinical ultrasound : JCUMutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Brain : a journal of neurologyHemimegalencephaly with intractable epilepsy: A case report.
JPMA. The Journal of the Pakistan Medical AssociationA Case of Epilepsia Partialis Continua Due to Linear Nevus Syndrome with Hemimegalencephaly.
Journal of pediatric neurosciencesmTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.
Clinical geneticsSomatic uniparental disomy of Chromosome 16p in hemimegalencephaly.
Cold Spring Harbor molecular case studiesWhat to do in failed hemispherotomy? Our clinical series and review of the literature.
Neurosurgical reviewProteus Syndrome with Neurological Manifestations: A Rare Presentation.
Journal of pediatric neurosciencesBrain Inflammation in an Infant With Hemimegalencephaly, Escalating Seizures, and Epileptic Encephalopathy.
Child neurology openDifferential roles for Akt and mTORC1 in the hypertrophy of Pten mutant neurons, a cellular model of brain overgrowth disorders.
NeurosciencePathologic Active mTOR Mutation in Brain Malformation with Intractable Epilepsy Leads to Cell-Autonomous Migration Delay.
The American journal of pathologyElectrophysiological Sequelae of Hemispherotomy in Ipsilateral Human Cortex.
Frontiers in human neuroscienceAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Megalencefalia unilateral.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Megalencefalia unilateral
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Functional outcome after vertical parasagittal hemispherotomy in pediatric hemimegalencephaly: Insights from a single case.
- Hemispherectomy in infants: an institutional experience with 21 patients.
- Adjunctive cannabidiol in intractable pediatric epilepsy: A retrospective study on tolerability, efficacy, and safety across genetic and nongenetic etiologies.
- Improvement in post-hemispherotomy cerebral salt-wasting syndrome following intubation: A case report.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology· 2026· PMID 41509143mais citado
- A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
- Drug resistant epilepsy driven by RHEB gene variants - Current evidence and a novel report of a paedatric case.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:99802(Orphanet)
- MONDO:0020492(MONDO)
- GARD:2637(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q40103033(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
