Presentation
The most common clinical presentation is intractable seizures. Heterotopia present as nodular foci of grey matter intensity on all sequences. They do not enhance. Heterotopia Images of a typical subependymal heterotopia. [radiologyassistant.nl]
There were 7 patients (27.6%) who presented with hemorrhage (either intraparenchymal or subarachnoid), whereas the major presentation was venous congestion with edema ( Figure 5 ). [stroke.ahajournals.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]
We present a case of a 1-year-old Hispanic girl with TSC in which bilateral cortical blindness is documented. [egms.de]
Patients usually present with intractable seizures. [ajnr.org]
Entire Body System
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Disability
PubMed [citation] PMID: 23033978 Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. [ncbi.nlm.nih.gov]
genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability [malacards.org]
In addition, we report 1 individual with macrocephaly and intellectual disability without seizures. [ng.neurology.org]
Abnormal cortical development is increasingly recognized as a cause of developmental disabilities and epilepsy. [karger.com]
Brain 129: 352– 365 Google Scholar Shepherd CW, Stephenson JBP (1992) Seizures and intellectual disability associated with tuberous sclerosis complex in the west of Scotland. [link.springer.com]
Neurologic
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Nystagmus
Affiliated tissues include brain, olfactory bulb and eye, and related phenotypes are seizures and nystagmus Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the TUBB3 [malacards.org]
A concomitant pendular nystagmus was evident in both eyes. Fundus examination revealed healthy optical discs with a normal neuroretinal rim (Figure 4 [ Fig. 4] ), the previously described lesions presented no changes. [egms.de]
Dizziness or a sensation of movement can also occur, as can rapid to and fro movements of the eyes, known as nystagmus. [childneurologyfoundation.org]
[…] into DVA Surgery for AVM with in advertent DVA obliteration/recovery with severe deficits Nussbaum, 1998 61 Flow misbalance: increased inflow (microshunt) Venous congestion 24 M 2 episodes of acute headache, vertigo, longstanding blurred vision and nystagmus [stroke.ahajournals.org]
602723 607211 Autosomal dominant CARD14 17q25.3 Pityriasis rubra pilaris 173200 607211 Autosomal dominant CARS2 13q34 Combined oxidative phosphorylation deficiency 27 616672 612800 Autosomal recessive CASK Xp11.4 Mental retardation, with or without nystagmus [mnglabs.com]
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Focal Neurologic Deficit
The most common clinical sequelae of FCD are seizures, ID, and focal neurologic deficits. Epilepsy is usually focal, intractable, and often complicated by focal status epilepticus. [neupsykey.com]
Developmental delay, cognitive disability, and focal neurological deficits are only observed with extensive dysplasias. Early seizure onset has been associated with infantile spasms with asymmetrical or focal features [Guerrini and Filippi, 2005]. [karger.com]
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Pendular Nystagmus
A concomitant pendular nystagmus was evident in both eyes. Fundus examination revealed healthy optical discs with a normal neuroretinal rim (Figure 4 [ Fig. 4] ), the previously described lesions presented no changes. [egms.de]
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Dysesthesia
Decompressive surgery/good recovery Kuker, 1997 44 Vessel–nerve contact 62 M Left trigeminal neuralgia and slight dysesthesia V2 and V3 Lobus semilunaris superior and inferior of the left cerebellar hemisphere Transpontine v. without venous ectasia, compression [stroke.ahajournals.org]
Workup
This requires extensive workup with detailed brain imaging and EEGs. A neurosurgeon will then surgically remove the area of the brain that is causing the seizures. This is called epilepsy surgery. [childneurologyfoundation.org]
In our opinion, thrombotic complications of DVAs require the same treatment and laboratory workup as cortical venous or sinus thrombosis, ie, anticoagulation treatment with investigation of procoagulating factors or prothrombotic conditions. 58 Although [stroke.ahajournals.org]
Treatment
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
liver and metabolic tests, drugs used, response to treatment, and final outcome. [bioline.org.br]
Your doctor will then talk with you about a few other treatment options. What other treatment options are there? Epilepsy surgery, vagus nerve stimulator (VNS), and ketogenic diet are some treatment options available if medications have failed. [childneurologyfoundation.org]
[…] underwent decompressive treatment with excellent results 32–34 ( Figure 2 ). [stroke.ahajournals.org]
Prognosis
OS has a poor prognosis. [bioline.org.br]
The careful assessment of patients with these abnormalities is important in order to provide an accurate prognosis and genetic counselling. [jnnp.bmj.com]
Causes and 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. [en.wikipedia.org]
PROGNOSIS What is the outcome with treatment? About 60 to 70% of children will stop having seizures after treatment with one AED. Response to therapy depends a great deal on the seizure type and the cause for the epilepsy. [childneurologyfoundation.org]
Table 26.2 Genetic Etiologies of Malformations of Cortical Development Accurate diagnosis of MCD relies primarily on recognition of the malformation on brain MRI, which, in turn, determines correct prognosis and genetic counseling. [neupsykey.com]
Etiology
Etiologically, OS is usually based on static organic brain lesions including brain malformations which neuroimagings demonstrate, namely static encephalopathy. [bioline.org.br]
MTS is the most common cause of partial complex epilepsy in adults and is also the most common etiology in young adult patients undergoing surgery. [radiologyassistant.nl]
Table 26.2 Genetic Etiologies of Malformations of Cortical Development Accurate diagnosis of MCD relies primarily on recognition of the malformation on brain MRI, which, in turn, determines correct prognosis and genetic counseling. [neupsykey.com]
Cerebral venous angiomas: clinical evaluation and possible etiology. Radiology. 1981 ; 139 : 87–94. Crossref Medline Google Scholar 37 Huber G, Piepgras U, Henkes H, Faubert C. Venous anomalies of the brain. [stroke.ahajournals.org]
These schemes, however, were established to distinguish distinct entities considering clearly different clinical etiologies. [journals.plos.org]
Epidemiology
Relevant External Links for KIF5C Genetic Association Database (GAD) KIF5C Human Genome Epidemiology (HuGE) Navigator KIF5C Atlas of Genetics and Cytogenetics in Oncology and Haematology: KIF5C No data available for Genatlas for KIF5C Gene Personalized [genecards.org]
Neurology 76: 1548–1554 Google Scholar Kaderali Z, Lamberti-Pasculli M, Rutka JT (2009) The changing epidemiology of paediatric brain tumours: a review from the Hospital for Sick Children. [link.springer.com]
Epidemiology Neural tube defects (NTDs) are among the most common congenital abnormalities but prevalence varies between countries and races. [jnnp.bmj.com]
Most series described the epidemiology, distribution, radiological characteristics, and associated conditions of DVAs. [stroke.ahajournals.org]
Tinkle BT, Schorry EK, Franz DN, Crone KR, Saal HM: Epidemiology of hemimegalencephaly: a case series and review. Am J Med Genet A 139:204-211 (2005). [karger.com]
Pathophysiology
Pathophysiology This syndrome is one of the age–dependent epileptic reactions to various non-specific exogenous brain insults acting at the specific developmental stages. 5 The pathophysiological mechanism of S-B is not clarified. 9 Spreafico et al. suspected [bioline.org.br]
Despite this limitation, it was possible to address several aspects that relate to pathophysiological mechanisms in tubers. [journals.plos.org]
Based on the imaging features and clinical symptoms, 2 major groups of presumed pathophysiological mechanisms could be identified: mechanical and flow-related. [stroke.ahajournals.org]
Prevention
PREVENTION Seizures can be prevented by regularly taking the prescribed medications. In fact, not taking medications is the most common cause for breakthrough seizures. During times of illness or stress, seizures can occur. [childneurologyfoundation.org]
Following this line of thought, there is in our practice a place for preventive treatment in an asymptomatic patient with a shunt draining through a DVA. [stroke.ahajournals.org]
Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, et al: Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-1325 (1998). [karger.com]