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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We observed 4 children with hemimegalencephaly, (3 boys, 1 girl aged 3-7 years). One child had a linear sebaceous nevus. All patients had a similar clinical, EEG, and neuroradiologic pattern. All patients had macrocrania, hemiparesis, hemianopsia, and psychomotor retardation of variable degree. All cases had an epileptic syndrome with onset during the first days or the first months of life. The seizures were consistently similar: partial motor seizures, generally hemiclonic and asymmetric brief tonic seizures, in series, involving predominantly one side of the body, contralateral to the cerebral damage. The EEG was initially characterized by a hemihypsarrhythmia and afterward, over the malformed hemisphere, by a rather high-frequency background activity associated with almost continuous transients of spikes, sharp waves, and spike and waves that progressively involved the contralateral hemisphere. Hemispherectomy was performed in two children with sudden and complete recovery from seizures and improvement in psychomotor development. Macroscopic examination was consistent with the computed tomography (CT) scan and magnetic resonance imaging (MRI) showing pachygyria and poorly represented white matter. Histologic examination showed the characteristic absence of cortical neuronal layering, and the presence of giant neurons, neuronal heterotopias, and gliosis. For hemispherectomy to be successful, we believe prolonged EEG monitoring is needed to verify that no seizures are originating in the normal hemisphere.
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PMID:Hemimegalencephaly and intractable epilepsy: benefits of hemispherectomy. 259 46

This study was conducted in a tertiary pediatric epilepsy clinic to ascertain the spectrum of development malformations in children, with seizures. Seventy Six Children (0-12 yr) with seizures and CNS malformations based on neuroimaging were included. Observed anomalies included dysgenetic corpus callosum (DCC), lissencephaly, focal cortical dysplasia (FCD), pachygyria, polymicrogyria, heterotopia, schizencephaly, holoprosencephaly, hemimegalencephaly, and phakomatoses like tuberous sclerosis, Sturge Weber syndrome and linear cutaneous nevus syndrome. Seizure semiology varied in all categories. Microcephaly, developmental delay and tone abnormalities were common clinical findings. 60.5 percent cases presented in infancy. The characteristic EEG features provided a clue to the diagnosis of anomalies like lissencephaly, agenesis of corpus callosum and alobar holoprosencephaly.
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PMID:Spectrum of congenital CNS malformations in pediatric epilepsy. 1534 72

A neonatal case of provisional neurocutaneous melanosis presenting with lissencephaly is reported. Several congenital nevi were observed on the trunk and extremities of the infant, including a giant congenital hairy nevus over the skull. Brain magnetic resonance imaging revealed a marked ventricular dilatation with pachygyria and an absent corpus callosum; however, an injection of gadolinium did not demonstrate any enhanced lesions. Histopathological investigations by a brain biopsy showed a disorganized and anomalous embryonic cerebral architecture, suggesting lissencephaly. The detailed mechanism of this combined pathology is difficult to explain; however, a developmental disturbance was suggested to be present in both the neural crest cells and the neuroepithelial cells, resulting in the development of neurocutaneous melanosis accompanied with lissencephaly.
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PMID:Large congenital melanocytic nevi presenting with lissencephaly with an absent corpus callosum. 1845 92

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.
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PMID:Posterior quadrantic dysplasia with localized hemimegalencephaly in a patient with giant congenital melanocytic nevus: First case report. 3079 39