Hemimegalencephaly: A rare congenital malformation of cortical development

Jaiswal, Vikash; Hanif, Muhammad; Sarfraz, Zouina; Nepal, Gaurav; Naz, Sidra; Mukherjee, Dattatreya; Ruxmohan, Samir

doi:10.1002/ccr3.5238

Cited by 8 publications

(9 citation statements)

References 5 publications

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“…The second type, syndromic, can be complicated with many types of neurocutaneous syndrome, such as tuberous sclerosis, cerebral facial hemangiomatosis, and neurofibromatosis ( 7 ). The third type, complete, is characterized by involvement of the ipsilateral cerebellum, brain stem, and the unilateral cerebral hemispheres ( 8 ). The fetus described in this case report had complete HME, for which the only possible long-term treatment is hemispherectomy to control seizures, which can relieve symptoms, but still produces a poor prognosis ( 4 ).…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description

Yao,

Wang,

Lan

et al. 2024

Quant Imaging Med Surg

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description

Yao,

Wang,

Lan

et al. 2024

Quant Imaging Med Surg

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“…В исследовании Ahsan N. V. Moosa при 6-летнем послеоперационном наблюдении 115 пациентов лишь у 56% пациентов не наблюдалось судорожных припадков, при этом у 17% наблюдались моторные нарушения (невозможность самостоятельно передвигаться), 30% имели нарушения речи, 58% пациентов старше 6 лет не обладали навыками чтения, лишь 5% пациентов посещали обычные школы, все остальные нуждались в особом уходе [6,7].…”

Section: Discussionunclassified

Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case

Murzaeva

Sitovskaya

Sultygova

et al. 2022

jour

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Hemimegalencephaly (HME) is one of the extremely rare congenital malformations of cortical development (MCD). It belongs to the MCD group of mTOR-related pathologies and can be the result of various genetic disorders. One of the main clinical manifestations of HME is drug-resistant epilepsy requiring surgical treatment.Case report. This article describes a clinical case of HME in a 4-year-old boy with frequent generalized tonic-clonic seizures and drug-resistant epilepsy; also, he had speech development delay. MRI revealed a HME of the right frontal lobe. Stereotaxic laser disconnection of the large cortical dysplasia in the right frontal lobe of the brain was performed. Morphological features of focal cortical dysplasia type IIb (FCD IIb) were reported. No seizures were observed in the hospital follow up after the operation for 14 days. The whole exome DNA sequencing showed the presence of a heterozygous state _000008.10^G 68419028del / 633del, pGlu212LysfsTers of the CPA6 gene.Discussion. A feature of the case is the identiﬁed association of HME, morphologically represented by FCD IIb, with a previously unknown heterozygous state in the 6th exon of the CPA6 gene. This association allows to expand our understanding of changes in the activation of PI3K/AKT/mTOR pathway as a key link in the pathogenesis of congenital anomaly of cortical development.

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“…All the remaining abnormalities are not pathognomonic. 41,42 Regarding symptomatology, macrocephaly may be the first sign of disease or hypotonia and jitteriness at birth; usually disease presentation is about 6 months with acute encephalopathic findings such as neuroregression, seizures or choreoathetosis, and dystonia after a normal initiate phase of development; other manifestations could be chronic encephalopathy, and acute encephalopathic seizures enhanced by catabolic events such as infections or febrile process. 9 Usually diagnosis arises as a result of diagnostic investigation after the development of acute encephalopathy crisis between 3 and 24 months due to infection or dehydratation.…”

Section: Mcap and Mpph Syndromesmentioning

confidence: 99%

Megalencephaly: Classification, Genetic Causes, and Related Syndromes

Leonardi,

Licciardello,

Zanghì

et al. 2024

Journal of Pediatric Neurology

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Megalencephaly is a developmental disorder due to an abnormal neuronal proliferation and migration during intrauterine or postnatal brain development that leads to cerebral overgrowth and neurological dysfunction. This cerebral overgrowth may affect the whole encephalon or only a region; when it involves one hemisphere it is referred to as hemimegalencephaly. Megalencephaly presents with a head circumference measurement of 2 standard deviations above the average measure for age. This group of disorders is clinically characterized by early onset and refractory to therapy epilepsy, neurodevelopmental disorders, behavioral problems, and autism spectrum disorder. Syndromic forms of megalencephaly should be considered when associated with other congenital abnormalities. Megalencephaly in fact could be associated with segmental overgrowth and cutaneous/vascular abnormalities (i.e., Proteus syndrome, CLOVES [congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis, and/ or skeletal abnormalities] syndrome, Klippel-Trenaunay syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome , megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome, etc.) or generalized overgrowth (i.e., Weaver or Beckwith-Wiedemann syndrome) as well as with nanism in achondroplasia where megalencephaly is associated with disproportionate short stature, primary skeletal dysplasia, characteristic facies (prominent forehead, flat nasal bridge), narrow chest, and normal intelligence. It is possible to identify three main groups of disorders associated with megalencephaly: idiopathic or benign, metabolic, and anatomic. The idiopathic (benign) form indicates an abnormal increased head circumference in absence of neurological impairment, such as in benign familial megalencephaly. In metabolic megalencephaly (such as in organic acid disorders, metabolic leukoencephalopathies, or lysosomal diseases) there is an increase of different constituents that increase the size of the brain, whereas in the anatomical form there are underlying genetic causes. Neuroimaging is crucial for diagnosis, as it can reveal a generalized brain growth or a segmental one and possible specific frameworks associated. In all these conditions it is necessary to identify possible microdeletion-microduplication by chromosomal arrays.

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Hemimegalencephaly: A rare congenital malformation of cortical development

Abstract: Hemimegalencephaly is a rare congenital malformation of cortical development usually associated with developmental delay and refractory epilepsy that sooner or later require hemispherectomy.

Cited by 8 publications

References 5 publications

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description

Hemimegalencephaly associated with drug-resistant epilepsy and a rare molecular genetic alteration in the CPA6 gene: a clinical case

Megalencephaly: Classification, Genetic Causes, and Related Syndromes

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