Hemimegalencephaly: A Systematic Comparison of Functional and Anatomic Hemispherectomy for Drug-Resistant Epilepsy.

BACKGROUND AND OBJECTIVES: Hemimegalencephaly (HME) is a rare diffuse malformation of cortical development characterized by unihemispheric hypertrophy, drug-resistant epilepsy (DRE), hemiparesis, and developmental delay. Definitive treatment for HME-related DRE is hemispheric surgery through either anatomic (AH) or functional hemispherectomy (FH). This individual patient data meta-analysis assessed seizure outcomes of AH and FH for HME with pharmacoresistant epilepsy, predictors of Engel I, and efficacy of different FH approaches. METHODS: PubMed, Web of Science, and Cumulative Index to Nursing and Allied Health Literature were searched from inception to Jan 13th, 2023, for primary literature reporting seizure outcomes in >3 patients with HME receiving AH or FH. Demographics, neurophysiology findings, and Engel outcome at the last follow-up were extracted. Postsurgical seizure outcomes were compared through 2-tailed t -test and Fisher exact test. Univariate and multivariate Cox regression analyses were performed to identify independent predictors of Engel I outcome. RESULTS: Data from 145 patients were extracted from 26 studies, of which 89 underwent FH (22 vertical, 33 lateral), 47 underwent AH, and 9 received an unspecified hemispherectomy with a median last follow-up of 44.0 months (FH cohort) and 45.0 months (AH cohort). Cohorts were similar in preoperative characteristics and at the last follow-up; 77% (n = 66) of the FH cohort and 81% (n = 38) and of the AH cohort were Engel I. On multivariate analysis, only the presence of bilateral ictal electroencephalography abnormalities (hazard ratio = 11.5; P = .002) was significantly associated with faster time-to-seizure recurrence. A number-needed-to-treat analysis to prevent 1 additional case of posthemispherectomy hydrocephalus reveals that FH, compared with AH, was 3. There was no statistical significance for any differences in time-to-seizure recurrence between lateral and vertical FH approaches (hazard ratio = 2.59; P = .101). CONCLUSION: We show that hemispheric surgery is a highly effective treatment for HME-related DRE. Unilateral ictal electroencephalography changes and using the FH approach as initial surgical management may result in better outcomes due to significantly lower posthemispherectomy hydrocephalus probability. However, larger HME registries are needed to further delineate the predictors of seizure outcomes.

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.

Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain-specific somatic Ras homolog enriched in brain (RHEB) variants. The somatic variant load directly correlated with the size of the malformation, with upregulated mTOR activity confirmed in dysplastic tissues. Laser capture microdissection showed enrichment of RHEB variants in dysmorphic neurons and balloon cells. Our findings support the role of RHEB in a spectrum of cortical malformations confirming that FCD and HME represent a disease continuum, with the extent of dysplastic brain directly correlated with the somatic variant load.

Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.

INTRODUCTION: Drug-resistant seizures due to hemimegalencephaly in neonates and infants are a unique surgical and anesthesia challenge. While early surgery in these patients may predict a better seizure control, a lower body weight, limited blood volume, and surgical blood loss may make hemispherectomy prohibitive. METHODS: Two infants (weight, 8.7 kg and 3.7 kg) underwent interhemispheric vertical hemispherotomy with endoscope assistance. In the first case, during the lateral disconnection, excessive bleeding prompted the surgeon to coagulate the lenticulostriate arteries at the origin from the middle cerebral artery to reduce bleeding. In the second infant, the lenticulostriate arteries were coagulated before initiating the lateral disconnection. RESULTS: In both infants, the blood loss from lateral dissection was reduced by coagulation of lenticulostriate arteries. CONCLUSION: The authors suggest that early coagulation of the lenticulostriate arteries is a useful strategy to minimize blood loss in low-weight infants undergoing hemispherotomy.

Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report.

Giant congenital melanocytic nevus (GCMN) is associated with neurocutaneous melanocytosis and various other neurological complications. Its association with migrational anomalies of the brain is extremely rare. Herein, we document the first case of GCMN in a one-day-old baby associated with localized hemimegalencephaly (HME) of the brain with extensive malformation of cortical development including polymicrogyria, pachygyria and sublobar dysplasia, limited to an enlarged quadrant of the brain. HME and GCMN are considered embryological anomalies of cell migration and proliferation. We discuss the unusual magnetic resonance imaging findings along with a brief review of the literature. To the best of our knowledge, our case is the first to report the association of GCMN with localized HME.

Hemispherectomy for Hemimegalencephaly Due to Tuberous Sclerosis and a Review of the Literature.

BACKGROUND: Hemimegalencephaly with tuberous sclerosis complex is an uncommon association, usually associated with intractable seizures that begin in the neonatal period or early infancy. Typically, the seizures are managed with medications until the patient is older when surgical treatment is considered safe. PATIENT DESCRIPTION: We describe a 7-week-old infant with tuberous sclerosis (TSC1 mutation) and hemimegalencephaly who underwent a functional hemispherectomy for status epilepticus. No clinical seizures have occurred since surgery nearly 5 years ago and subsequent weaning of antiepileptic drugs 3 years ago. This is one of the youngest patients with tuberous sclerosis complex treated with a hemispherectomy and one of seven patients described in the literature. CONCLUSIONS: Our patient, along with previously reported cases, suggests that a hemispherectomy is a viable option in the very young. With evolution of this surgical process since its inception nearly 6 decades ago, it may now be performed safely in early infancy, engendering the possibility of seizure freedom in most and thus optimizing neurodevelopmental outcome.

Hemimegalencefalia: presentación de caso / Hemimegalencephaly: a case report

La hemimegalencefalia es un trastorno de la proliferación neuronal que produce un excesivo crecimiento de todo o parte de un hemisferio cerebral. Su patogenia aún se desconoce. Se presenta el caso de un paciente adulto, con antecedentes de epilepsia desde la infancia temprana, rebelde a tratamiento farmacológico, asociada a retraso mental moderado, el cual fue ingresado para control de crisis epilépticas. La resonancia magnética nuclear de cráneo mostró asimetría de hemisferios cerebrales con corteza derecha ensanchada y escasa diferenciación de la sustancia gris y blanca. Es objetivo de esta presentación exponer una causa infrecuente de epilepsia, cuyo diagnóstico por lo general se hace en la infancia. La hemimegalencefalia debe sospecharse en epilepsias de inicio precoz y difícil manejo, sobre todo cuando se asocian a macrocefalia y retardo del desarrollo psicomotor. La indicación oportuna de la neuroimagen permite establecer el diagnóstico y brindar otras opciones terapéuticas(AU)

Hemimegalencephaly is a disorder of neuronal proliferation that causes an overgrowth of all or part of a cerebral hemisphere. Its pathogenesis is still unknown. We present the case of an adult patient with a history of childhood-onset epilepsy, which was refractory to medical treatment and associated with moderate mental retardation. He was admitted to the hospital for seizure control. Magnetic resonance imaging showed hemispheric asymmetry with enlarged right cerebral hemisphere and poor gray-white matter differentiation. The objective of this paper is to present a rare cause of epilepsy that is usually diagnosed during childhood. Hemimegalencephaly should be suspected in cases of early onset of difficult-to-control epilepsy, especially when associated with macrocephaly and delayed psychomotor development. Timely indication for neuroimaging allows establishing the diagnosis and providing other treatment options(AU)