Symptoma

Bilateral Temporo-Occipital Polymicrogyria

BTOP

The fronto-temporo-parietal opercula present an abnormally open appearance, which is frequently associated with an overlying large anomalous venous structure. CT may show abnormal sylvian fissures and thickened adjacent cortex. [moh-it.pure.elsevier.com]

Acronym BTOP Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Several patients presented deficits in neuropsychological tasks requiring performance under time constraints, suggesting that this malformation may result in cognitive slowing. [neuroscienceandgenetics.it]

In more severe forms, focal motor, sensory, visual, or cognitive problems may be present, depending on the location of the brain region affected. [ipfs.io]

Large subcortical perivascular spaces were present. The superior vermis, cerebellar hemispheres, and ventral pons were small, as was the splenium of the corpus callosum. [cags.org.ae]

  • Retinal Pigmentation

    There was diffuse retinal pigment epithelium (RPE) atrophy with tessellated background, arteriolar attenuation, and choroidal sclerosis in both the eyes [Figure 1] g. There were no RPE clumps or bony spicules. [annalsofian.org]

  • Aggressive Behavior

    Affiliated tissues include brain, and related phenotypes are ventriculomegaly and aggressive behavior [malacards.org]

    Back to: « Polymicrogyria Symptoms of Polymicrogyria, bilateral temporooccipital Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the nervous system Aggressive behavior Focal seizures with impairment of consciousness or [familydiagnosis.com]

  • Behavior Disorder

    This comprehensive, authoritative text has a bench to bedside, approach that covers: The mechanisms underlying epilepsy and behavior Neurophysiologic function Neuropsychiatric and behavioral disorders in patients with epilepsy The effects of treatments [books.google.com]

  • Dysmetria

    All three had esotropia, increased muscle tone, mild truncal ataxia, and finger dysmetria, without dysmorphic features or other congenital anomalies. They also had strabismus. [cags.org.ae]

    Bilateral holosylvian, generalization, onset at normal neurologic findings parietal, parieto oc- age 9 mo; EEG that shows cipital multifocal spikes, diffuse Severe global delay; hypotonia of legs more than slow waves. arms; hyperreflexia, nystagmus, dysmetria [fliphtml5.com]

    Autism Nys, A Thin CC; CD50 M/19 E/15 y Foc SF N N CDAbbreviations: A ataxia; ACF abnormal cortical folding; CC corpus callosum; CD cerebellar dysgenesis; CVD cerebellar vermis dysgenesis; DDdevelopmental delay; DW daily-weekly; Dys dysarthria; Dysm dysmetria [documents.tips]

    Encephalocele Cerebellar vermis hypoplasia Postaxial polydactyly Thick vermilion border Polydactyly Absent speech Rod-cone dystrophy Minimal change glomerulonephritis Abnormality of the head Focal segmental glomerulosclerosis Glomerulosclerosis Narrow forehead Dysmetria [mendelian.co]

  • Truncal Ataxia

    All three had esotropia, increased muscle tone, mild truncal ataxia, and finger dysmetria, without dysmorphic features or other congenital anomalies. They also had strabismus. [cags.org.ae]

    Fig. 11.13 Rhombencephalosynapsis, 9-year-old patient with truncal ataxia and psychomotor delay. MR at 0.5 T. [mrineonatalbrain.com]

  • Cognitive Developmental Delay

    Clinical features included motor and cognitive developmental delay, esotropia, strabismus, pyramidal signs, and seizures. [cags.org.ae]

  • Onset at Age <20

    […] at age 20 mo; EEG bilateral lay18 M/6 y rieto occipital central spikes Partial complex seizures, on- Motor and speech delay as young child, pres- Bilateral frontal, sylvian set at age 6 mo; EEG that ently has mild hyperreflexia, poor gross and shows multifocal [fliphtml5.com]

  • Multifocal Spikes

    F/7 y an, parasagittal pari- multifocal spikes, back- slightly delayed eto occipital ground slow waves Partial complex seizures with Mild motor and cognitive delay. [fliphtml5.com]

  • Excessive Drooling

    drooling, rior quadrant diminished tongue movements Moderate mental retardation (FSIQ ϭ 58); slow to walk and talk; presently, mild hypo- tonia in legs and arms; abnormal speech, limited palatal elevation and tongue move- ment Mild to moderate mental [fliphtml5.com]

    Other findings typically include difficulties with tongue movement, expressive speech, and sucking and swallowing, as well as excessive drooling and facial diplegia as seen in the Worster-Drought syndrome. [ncbi.nlm.nih.gov]

Sections dedicated to management and treatment are also included in an effort to aid clinicians in their goal of providing better care for individuals affected by these types of malformations. * A single source that encompasses the various aspects of [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Treatment plans will vary depending on the severity of the condition and its evidences in each patient. [ipfs.io]

Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]

Each sibling of the proband's parents is at a 50% risk of being a carrier [11] Prognosis Once the diagnosis of polymicrogyria has been established in an individual, the following approach can be used for discussion of prognosis: A pregnancy history should [ipfs.io]

[…] and other malformations may be associated with a poor prognosis. [jcnonweb.com]

Treatment and prognosis No specific treatment of polymicrogyria per se is available. Treatment is symptomatic and particularly aimed at controlling epilepsy, a common sequela. Related Radiopaedia articles Promoted articles (advertising) [radiopaedia.org]

Each child is unique in their presentation of the disorder, thus it is difficult to make a predictable prognosis for children with the diagnosis of PMG Diagnosis With increased use of imaging techniques such as MRI and CT, polymicrogyria is becoming more [presleyshalala.com]

The prognosis is poor. [icd10data.com]

Lennox-Gastaut syndrome can be cryptogenic or symptomatic, but the symptomatic forms have been associated with multiple etiologies and abnormal cortical development. [ipfs.io]

The etiology of polymicrogyria is heterogeneous. The topographic arrangement of the lesions, the frequency of bilateral symmetry, and historical data may suggest a transient intrauterine perfusion failure in many patients. [cags.org.ae]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

The etiology of these dyskinetic movements (not orobuccal dyspraxia) was evaluated with cranial MRI. A small ischemic lesion was found in the mesencephalon. [onlinelibrary.wiley.com]

WDR62 and PIK3R2 Intrauterine cerebral injury, after approximately 20 weeks gestation, e.g. infection such as CMV, or hypoxia-ischemia Metabolic etiology e.g. peroxisomal disorders Bilateral perisylvian syndrome Bilateral perisylvian polymicrogyria can [epilepsydiagnosis.org]

[…] and anatomical factors and clinical outcome in a series of 34 cases Enlaces Texto completo ( pdf ) Resumen Introduction The aim of our study is to describe the epidemiology, clinical evolution, and the anatomical and neurological factors involved in [dialnet.unirioja.es]

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]

Relevant External Links for FIG4 Genetic Association Database (GAD) FIG4 Human Genome Epidemiology (HuGE) Navigator FIG4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FIG4 No data available for Genatlas for FIG4 Gene Mutation of FIG4 [genecards.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]

The pathophysiological bases are heterogeneous and include extrinsicfactors and genetic causes. [docslide.com.br]

Somatic mosaicism is thought to be the underlying pathophysiology in ECCL.) [6] It usually presents with porencephalic cyst with cortical atrophy, cranial asymmetry, developmental delay, seizures, ipsilateral lipomatous hamartomas of the scalp, eyelid [pediatricneurosciences.com]

[…] free Our patient 8 M Colicky epigastric pain, nausea Pallor Few minutes to 1 hour Bilateral synchronous and asynchronous spikes and diphasic sharp-waves in temporal and central area, increased during drowsiness and sleep Carbamazepine Seizure free The pathophysiology [ijponline.biomedcentral.com]

Various supportive measures such as joint contractures that could prevent complications. Genetic counseling may also be recommended [17] See also Epilepsy Phenome/Genome Project References "Bilateral Frontoparietal Polymicrogyria (BFPP)." [ipfs.io]

Mutations infilamin 1 prevent migration of cerebral cortical neurons in1250 Neurology 79 September 18, 2012human periventricular heterotopia. Neuron 1998;21:13151325.4. Wieck G, Leventer RJ, Squier WM, et al. [documents.tips]

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998; 21 :1315–1325. [ PubMed ] [ Google Scholar ] 111. Cunningham CC., Gorlin JB., Kwiatkowski DJ., et al. [ncbi.nlm.nih.gov]

This deficiency prevents the breakdown of very long chain fatty acids (C 22:0), which then accumulate in tissue and plasma (17). [es.slideshare.net]

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]