Presentation
Extratemporal or multilobar, unilateral or bilateral interictal spiking was present in 10 other patients (36%). [pubmed.ncbi.nlm.nih.gov]
GREY MATTER HETEROTOPIA OVERVIEW Grey matter heterotopia is a malformation of cortical development, where cortical cells (grey matter) are present in inappropriate locations in the brain, due to interruption in their migration to their correct location [epilepsydiagnosis.org]
Patients with isolated subependymal heterotopia usually present with a seizure disorder in the second decade of life. Subependymal heterotopia present in a wide array of variations. [en.wikipedia.org]
Affected patients typically present with refractory epilepsy and a variable degree of mental retardation [2]. [eurorad.org]
MRI findings Subependymal heterotopia were characterised by clusters of grey matter larger than the small nodules present in the simple group. [jnnp.bmj.com]
Entire Body System
- Developmental Delay
It is usually associated with variable developmental delay 3. [radiopaedia.org]
The more extensive the subcortical heterotopia, the greater the deficit; bilateral heterotopia are almost invariably associated with severe developmental delay or intellectual disability. [en.wikipedia.org]
delay presented in the emergency department due to a recent episode of generalized tonic-clonic seizure with a secondary head trauma. [eurorad.org]
Although prenatal history, sex, age at seizure onset, and epilepsy did not significantly differ in the two groups, patients with PNH and subcortical nodules tended to have higher prevalence of epilepsy, developmental delay, and neurological deficit. [jnnp.bmj.com]
Skin
- Flushing
[…] of PXA with anaplastic features, paying particular emphasis on neuroradiological aspects Case report: This is the story of a 5 year old girl who had, by about 6 months, repeated episodes of stereotypical swallowing associated with abdominal pain and flushing [docksci.com]
Psychiatrical
- Psychomotor Retardation
Three weeks later patient’s conditions deteriorated and he was admitted to our department where psychomotor retardation, hypersomnia, short-term memory loss and a slight right facial nerve deficit were observed. [docksci.com]
Neurologic
- Focal Seizure
[…] of the brain (focal seizures). [medlineplus.gov]
The remaining 5 subjects (38.5%) had, on clinical grounds, several foci able to arouse a seizure (#s 1, 4, 6, 10, 13 - Table 1). Interictal EEGs showed focal epileptiform discharges in 7 cases (53.8%). [scielo.org.ar]
- Profound Intellectual Disability
The severity varied from profound intellectual disability with no major developmental milestones reached to isolated motor or language delay. Behavioral abnormalities were noted for 17 of 44 (39%) participants with data available. [n.neurology.org]
- Generalized Seizure
The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side [medlineplus.gov]
- Language Delays
The severity varied from profound intellectual disability with no major developmental milestones reached to isolated motor or language delay. Behavioral abnormalities were noted for 17 of 44 (39%) participants with data available. [n.neurology.org]
Workup
Additional workup in selected patients may include serologies and CSF analysis. Ocular miastenia must be included in the differential diagnosis in all cases of motility disorders, expecially when pupil is not involved. [docksci.com]
Treatment
The relevance of these findings is discussed in the light of the possible surgical treatment of drug–refractory epilepsy associated with cerebral malformations: surgical treatment based on conventional MRI studies alone, without taking the functional [link.springer.com]
Response to pharmacological treatment Patients were considered refractory to treatment when seizure control was not achieved despite of having been medicated with one of the traditional drugs included within the first-line group of antiepileptic drugs [scielo.org.ar]
Challenges in the surgical treatment of epilepsy patients with cortical. Epilepsia. 2009;50(9):45-50. Archer JS, Abbott DF, Masterton RA, Palmer SM, Jackson GD. [revistas.urosario.edu.co]
[…] patients undergoing this treatment. [docksci.com]
Treatment[edit] When seizures are present in any forms of cortical dysplasia, they are resistant to medication. Frontal lobe resection provides significant relief from seizures to a minority of patients with periventricular lesions. [en.wikipedia.org]
Prognosis
The presence of other types of cortical or cerebral malformations, in addition to periventricular nodules, determines a poor prognosis. periventricular nodular heterotopia malformation of cortical development epilepsy electroclinical features prognosis [jnnp.bmj.com]
Prognosis[edit] In general, gray matter heterotopia is fixed in both its occurrence and symptoms; that is, once symptoms occur, it does not tend to progress. Varying results from surgical resection of the affected area have been reported. [en.wikipedia.org]
E’ un tumore benigno composto da cellule mesenchimali e la prognosi dopo rimozione chirurgica è eccellente. [docksci.com]
Etiology
An etiological diagnosis has been achieved in 15 cases (37,5%). [docksci.com]
Epidemiology
Epidemiology of preterm birth and neonatal outcome. Semin. Fetal. Neonatal Med. 2004; 9 (6): 429-435. 4 Barre N, Morgan A, Doyle LW, et al. Language abilities in children who were very preterm and/or very low birth weight: a meta-analysis. [docksci.com]
Pathophysiology
[…] hypoplasia may also be associated with PNH.1,14–17 High resolution magnetic resonance imaging (MRI) has revolutionised the study of MCD by showing how important these conditions are as a cause of epilepsy, contributing to a greater understanding of the pathophysiology [jnnp.bmj.com]
[…] associated with alterations in the vascular organization, therefore, impairment of cerebrovascular reactivity represent significant determinants of cognitive dysfunctioning.[38] This can be an additional area to investigate in order to understand the pathophysiological [journals.lww.com]
The frequency of neurological involvement in BD is very variable, ranging from 3 to 59%, with two main different pathophysiologic mechanisms: first, and most commonly, through the development of an immune-mediated meningoencephalitis, which predominantly [docksci.com]
Prevention
The ectopic gray matter results from an insult that occurred during the late neuronal proliferating period, which allows the multiplication of neuroblasts but prevents their normal migration from the paraventricular region. [scielo.org.ar]
Surgery has been the classical approach to treat SEGAs, although this treatment is associated with substantial morbidity and does not completely prevent tumor recurrence. [docksci.com]