Abstract
ObjectiveTo investigate the clinical characteristics and neuroimaging features of childhood presenting with gray matter heterotopia observed in a single tertiary Pediatric Department in Catania and compare the data with those reported in the literature.MethodsA retrospectively review of the history, clinical findings, electrophysiological features and magnetic resonance images of 22 children presenting with gray matter heterotopia observed from January 2010 to January 2020.ResultsAmong the 22 children included in the study, 17 presented with periventricular heterotopia (PVNH), two with Subcortical Band Heterotopia (SBH), and three with other subcortical heterotopia (SUBH). In the affected children, the ages at first diagnosis ranged from 3 months to 16 years with a mean age of 8.2 years (± 5.4); twelve (54.5%) suffered by developmental delay and intellectual deficit; eleven children (50%) complained of epileptic seizures, mostly focal to bilateral tonic–clonic seizure. In addition, in the periventricular heterotopia group (PVNH), cerebral and systemic malformations were reported in twelve (70%) and in ten (58%) children, respectively, out of seventeen. In the SBH plus SUBH group, epileptic seizures were recorded in 3 (60%) out of 5 children, cerebral malformations in one child and systemic malformations in two children.ConclusionsHeterotopic gray matter malformations include a group of disorders that manifest with a variety of neurological implications, such as cognitive impairment and epilepsy, and often related with epilepsy, other cerebral malformations and systemic anomalies.
Highlights
Heterotopic gray matter malformations (HET) are clusters of normal neurons in abnormal locations, mainly due to impaired migration from approximately the 6th to 16th weeks of gestation [1,2,3]
We reviewed retrospectively the clinical records of the 22 children presenting with epilepsy and/or development delay and diagnosed at Brain MRI with HET, admitted at single tertiary Pediatric Department at the “Policlinico G
The results obtained are distinguished on the basis of the type of HET and beneath reported: Periventricular nodular heterotopia (PVNH)
Summary
Heterotopic gray matter malformations (HET) are clusters of normal neurons in abnormal locations, mainly due to impaired migration from approximately the 6th to 16th weeks of gestation [1,2,3]. The increasing availability and resolution of MRI technology and molecular genetics has resulted in a classification published by Barkovich et al in the 2012 describing different types of malformations. The diagnosis of GMH requires highly specialized and multidisciplinary expertise. It has been commonly related to developmental delay and other systemic. The purpose of this study was to evaluate the clinical and neuroimaging features of gray matter heterotopia observed over a 10-year period in a single tertiary pediatric department to improve the clinicians’ and radiologists’ understanding of the disease
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