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Subcortical Nodular Grey Matter Heterotopia
Subcortical Nodular Heterotopia of Grey Matter

Presentation

Extratemporal or multilobar, unilateral or bilateral interictal spiking was present in 10 other patients (36%). [pubmed.ncbi.nlm.nih.gov]

Case Presentation A 22-year-old, unmarried lady presented with recurrent seizures since her six years of age. The seizure started in her right hand and then became generalized. The seizure persisted for two to three minutes. [cureus.com]

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]

Entire Body System

  • Fishing

    Raymond AA, Fish DR, Sisodiya SM, Alsanjari N, Stevens JM, Shorvon SD. Raymond AA, et al. Brain. 1995 Jun;118 ( Pt 3):629-60. doi: 10.1093/brain/118.3.629. Brain. 1995. PMID: 7600083 Review. [pubmed.ncbi.nlm.nih.gov]

    Wieser HG, Blume WT, Fish D, Goldensohn E, Hufnagel A, King D, et al. ILAE Commission Report. Proposal for a new classification of outcome with respect to epileptic seizures following epilepsy surgery. Epilepsia. 2001;42(2):282-6. [revistas.urosario.edu.co]

    Raymond A, Fish D, Stevens J, Cook M, Sisodiya S, Shorvon S. Association of hippocampal sclerosis with cortical dysgenesis in patients with epilepsy. Neurology 1994; 44: 1841-5. [ Links ] 32. Sisodiya S. [scielo.org.ar]

    ↵ Raymond AA, Fish DR, Stevens JM, et al. Subependymal heterotopia: a distinct neuronal migration disorder associated with epilepsy. J Neurol Neurosurg Psychiatry 1994;57:1195–202. ↵ Dobyns WB, Guerrini R, Czapansky-Beilman DK, et al. [jnnp.bmj.com]

    Methods: 17 patients (range 2-20 years, mean age: 7,6), 10 males and 7 female with clinical and genetic RSTS diagnosis (FISH and/or molecular analysis, array-CGH of CREBBP located in 16p13.3 and EP300 located in 22q13). [docksci.com]

Neurologic

  • Febrile Seizures

    Only one female patient (# 2 – Table 1) within this group had had a son who was affected by febrile seizures. [scielo.org.ar]

    The young patient showed since the first year of age febrile seizures; he is affected by neurodevelopmental delay and since the age of 2 years he presented with episodes of ataxia, lasting 2 to 20 days, especially in the awakening. [docksci.com]

  • 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]

    The seizure types are highly variable from patient to patient and vary from focal, complex partial to generalized seizures [9]. [cureus.com]

  • Neglect

    In depth evaluation of the clinical features and long term follow up of these patients has often been neglected. Our work is a retrospective study yielding some insight into the long term follow up and course of epilepsy in PNH patients. [jnnp.bmj.com]

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]

EEG

  • Focal Epileptiform Discharges

    Interictal EEGs showed focal epileptiform discharges in 7 cases (53.8%). [scielo.org.ar]

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

To rule out any secondary etiology, an MRI of the brain with contrast was advised. The MRI of the brain of the patient revealed typical features of SBH. [cureus.com]

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]

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