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]

• Weakness

  Seizures beginning in motor areas can cause weakness or the inability to use certain muscles, such as the muscles that allow someone to speak. Twisting, turning, pedaling, or grimacing movements are common with frontal lobe seizures. [epilepsy.com]

  Between attacks she had slight weakness of the right hand and difficulty performing fine movements. COMBINED AND OVERLAPPING CEREBRAL MALFORMATIONS There are distinct abnormalities that represent an overlap between different classes of malformation. [jnnp.bmj.com]

  Seizures from the motor area of the brain are often followed by weakness of the involved parts of the body. This is called postictal (after a seizure) hemiparesis or hemiplegia. It can also be called a Todd paralysis. [childneurologyfoundation.org]

  […] infarction 68 M Headache, seizures, right hemiplegia, and aphasia Left frontoparietal Thrombosis of SSS SSS (direct) … Heparin/mild motor sequelae Hammoud, 2002 75 Flow misbalance: outflow obstruction Venous infarction 26 F Right-sided acute numbness and weakness [stroke.ahajournals.org]

• Swelling

  In status epilepticus a hyperintense hippocampus can be seen, but there is swelling and no atrophy. [radiologyassistant.nl]

• Pallor

  The heart and breathing rate may rise, and sweating and pallor can also occur. Uncontrolled, subtle movements of the face and hands, “zoning out”, and rhythmic facial and limb movements are often seen. [childneurologyfoundation.org]

• Small Head

  DISORDERS OF CORTICAL DEVELOPMENT Disorders of proliferation and differentiation Microcephaly This is an abnormally small head circumference (< 0.4th centile on occipito-frontal head circumference charts), which is disproportionately small in relation [jnnp.bmj.com]

  Sagittal MRI demonstrates MIC ( Postnatal MIC, on the other hand, is characterized by borderline small head size (2 to 3 SD below the mean) at birth that later progresses. [neupsykey.com]

  Brain Imaging The most common cortical malformation in megalencephaly is perisylvian polymicrogyria that looks very similar to perisylvian polymicrogyria in patients with normal or small head size. [karger.com]

• Muscle Cramp

  cramps 611773 120130 Autosomal dominant COL4A1 13q34 {Hemorrhage, intracerebral, susceptibility to} 614519 120130 COL4A1 13q34 Porencephaly 1 175780 120130 Autosomal dominant COL4A1 13q34 Brain small vessel disease with or without ocular anomalies 607595 [mnglabs.com]

• Suggestibility

  The history, clinical examination, laboratory study, EEG and imaging were suggestive of OS syndrome. [bioline.org.br]

  The features of seizures may suggest whether they begin in the frontal or temporal lobes. Yet, the only way to be certain about where they start is to obtain an EEG (electroencephalogram) recording during a seizure. [epilepsy.com]

  The most recent classification system is that suggested by Blumcke in 2011 and has been widely accepted. [radiopaedia.org]

  Recurrence of p.Ser2215Phe, p.Ser2215Tyr, and p.Leu1460Pro mutations that result in mTOR activation in multiple FCD cases 15, 16, 18 suggests mutational hotspots. [ng.neurology.org]

• Global Developmental Delay

  Affiliated tissues include brain and cortex, and related phenotypes are seizures and global developmental delay Disease Ontology : 12 A complex cortical dysplasia with other brain malformations that has material basis in heterozygous mutation in the KIF5C [malacards.org]

• Apraxia

  This is called apraxia. An example of apraxia is a teenager unable to comb their hair with a brush. Other symptoms include funny feelings in the skin, known as paresthesias, or absence of sensation, called numbness. [childneurologyfoundation.org]

  If there is bilateral involvement of both opercular regions there may be facial apraxia and speech difficulties. [jnnp.bmj.com]

  […] recessive APP 21q21.3 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants 605714 104760 Autosomal dominant APP 21q21.3 Alzheimer disease 1, familial 104300 104760 Autosomal dominant APTX 9p21.1 Ataxia, early-onset, with oculomotor apraxia [mnglabs.com]

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]

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]

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]

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]

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 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 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]