Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Here we present the case of a young girl presented with complex seizures, with MRI imaging showing band heterotopia as a cause of her seizures. [imj.ie]
X- linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. [experts.umn.edu]
It can present in children or in adults, with epilepsy and learning disability. Epilepsy occurs in at least 80% of cases, and 50% of cases present with the Lennox-Gastaut phenotype. [epilepsydiary.biz]
X-linked lissencephaly and subcortical band heterotopia (XLIS) presents with sporadic or familial mental retardation and epilepsy. [neurology.org]
Entire Body System
-
Physician
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]
In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]
Internet and Computer Resources on Mental Retardation for Family Physicians TABLE 4. [aafp.org]
Pigment Int 2015;2:64-6 Sir, A 16-year-old, mentally retarded male patient with delayed development of motor and speech milestones and intractable seizures, was referred to our Dermatology Department, after consulting other physicians. [pigmentinternational.com]
-
Anemia
New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference [books.google.de]
[…] urine Untreated leads to severe MR, decreased attention, lack of responsiveness to environmental stimuli, seizures, spasticity, hyperactive reflexes, tremors, “psychiatric illness” Treatment diet (no phenylalanine) leads to short stature and weight, anemia [brainaacn.org]
-
Pathologist
All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]
-
Fatigue
الصفحة 469 - ... insomnia or hypersomnia; psychomotor agitation or retardation; fatigue or loss of energy; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness; and recurrent thoughts [books.google.com]
-
Hypersomnia
الصفحة 469 - ... insomnia or hypersomnia; psychomotor agitation or retardation; fatigue or loss of energy; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness; and recurrent thoughts [books.google.com]
Musculoskeletal
-
Myopathy
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case. Europ. Neurol. 32: 170-176, 1992. [ PubMed: 1592075 ] 27. Moon, A., Rhead, W. J. Complementation analysis of fatty acid oxidation disorders. J. Clin. [acidemiaglutaricatipoii.blogspot.com]
Fetus
-
Hydrops Fetalis
Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care [books.google.de]
Psychiatrical
-
Indecisiveness
الصفحة 469 - ... insomnia or hypersomnia; psychomotor agitation or retardation; fatigue or loss of energy; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness; and recurrent thoughts [books.google.com]
-
Feeling of Worthlessness
الصفحة 469 - ... insomnia or hypersomnia; psychomotor agitation or retardation; fatigue or loss of energy; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness; and recurrent thoughts [books.google.com]
Neurologic
-
Tonic-Clonic Seizure
And Arachnoid Cysts Synonyms PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES Classification genetic, neurological Phenotypes Abnormality of the skeletal system ; Arachnoid cyst ; Atypical absence seizure ; Autosomal recessive inheritance ; Generalized tonic-clonic [mousephenotype.org]
[…] developmental delay 60 33 Very frequent (99-80%) HP:0001263 2 intellectual disability 33 HP:0001249 3 seizures 60 Very frequent (99-80%) 4 intellectual disability, severe 60 Very frequent (99-80%) 5 abnormality of the skeletal system 33 HP:0000924 6 generalized tonic-clonic [malacards.org]
[…] skeletal system Skeletal abnormalities Skeletal anomalies [ more ] 0000924 Arachnoid cyst Fluid-filled sac located in membrane surrounding brain or spinal cord 0100702 Atypical absence seizures 0007270 Autosomal recessive inheritance 0000007 Generalized tonic-clonic [rarediseases.info.nih.gov]
She had six to seven episodes of generalized tonic clonic seizures starting at nine months of age. There was good response to antiepileptic drug. Her electroencephalogram did not show any abnormalities. [bioline.org.br]
Subsequently, the manifestations of secondary generalized epilepsy, including atonic, tonic, and tonic-clonic seizures, became the predominant epileptic pattern in all. [docslide.com.br]
-
Sleep Disturbance
Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. [mendelian.co]
A 3-year-old girl was referred for evaluation of moderate psychomotor retardation and several behavioral problems including self-injuring behavior, hyperactivity, and sleep disturbance. [biomedsearch.com]
-
Insomnia
الصفحة 469 - ... insomnia or hypersomnia; psychomotor agitation or retardation; fatigue or loss of energy; feelings of worthlessness or excessive or inappropriate guilt; diminished ability to think or concentrate, or indecisiveness; and recurrent thoughts [books.google.com]
-
Neglect
Prevention of Child Abuse and Neglect Leicester, 16th to 19th September 1991 The British Association for the Study and Prevention of Child Abuse and Neglect will hold its first National Congress in Leicester from 16th to 19th Sepbember 1991. [vdocuments.net]
-
Memory Impairment
impairment Abnormality of the cerebral white matter Adult onset Sporadic Coma X-linked dominant inheritance Auras Childhood onset Generalized tonic-clonic seizures Hyperventilation Lissencephaly Agnosia Intellectual disability, profound Pachygyria Spastic [mendelian.co]
Workup
[…] develop microcephaly Of note: Rett’s, Angelman’s and Fragile X should all be differentials for autism KLINEFELTER’S SYNDROME (XXY) Seen in males Tall stature, but “eunuchoid” after puberty (often diagnosed after puberty, sometimes in context of fertility workup [brainaacn.org]
Other Test Results
-
Cortical Tubers
Cortical tubers, periependymal nodules (hamartomas). Giant cell astrocytoma. Gray matter heterotopias. Angiomyolipomas of the kidney. Rhabdomyoma of the heart. Adenoma of the liver. Skeletal cysts. Lymphangiomyomatosis of the lungs. [spinwarp.ucsd.edu]
Serum
-
Karyotype Abnormal
abnormality has been described.Figure 3 Patient 5, hemimegalencephaly. [myslide.es]
No abnormal karyotypic abnormality has been described. 19. TRANSTORNOS DE MIGRACIÓN 20. [es.slideshare.net]
Treatment
More Symptoms of Pachygyria with mental retardation and seizures » • • • Back to: « Pachygyria Treatments See also the following treatment articles: Treatments for Pachygyria Treatments for Seizures Causes See also causal information: Causes of Pachygyria [familydiagnosis.com]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.de]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Surgical Treatment of the Epilepsies. 2nd ed. New York, Raven Press 1993, s. [books.google.com]
Treatment - Pachygyria with mental retardation and seizures Not supplied. Resources - Pachygyria with mental retardation and seizures Not supplied. [checkorphan.org]
Prognosis
Diagnosis - Pachygyria with mental retardation and seizures * Concentration Testing * ADHD Testing * Mental Health Testing: - Emotional Stress Tests Prognosis - Pachygyria with mental retardation and seizures Not supplied. [checkorphan.org]
As mentioned, certain mutations may result in milder cortical changes that are compatible with a substantially better prognosis. [news-medical.net]
Epilepsy in patients with CP was characterized by early age at onset, generalized focal and multifocal seizures and a poorer prognosis. The presence of cerebral palsy requires differential consideration of the severity of epilepsies. [scinapse.io]
In particular, no data are available on the prognosis for these children with seizures after discontinu- ation of anti-epileptic drugs. [dokumen.tips]
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]
Etiology
[…] monoventricle w/ thin dorsal membrane, no olfactory bulbs Semilobar, lobar - shallow interhemispheric fissure "The face predicts the brain" - mild: single central incisor severe: proboscis, cyclopean, cebocephaly, hypotelorism, micropthalmia, agnatia Etiology [quizlet.com]
Results : Thirty (63.82%) children had abnormal neuroimaging findings of which 19 (42.42%) were specific abnormalities useful in arriving at etiological diagnosis. [link.springer.com]
[…] interictal EEG with diffuse polyspike-wave paroxysms predominantly in posterior region, posterior focal epileptilorm abnormalities and ictal diffuse 10-11 Hz activity, bilateral parieto-occipital agyria-pachygyria should be considered as a possible etiology [pubmed.cn]
Eight patients had identifiable prenatal etiological factors. The frequency of complex partial, partial motor, and secondarily generalized seizures was approximately 70 each. [scinapse.io]
Etiology A number of environmental, genetic or multiple factors can cause mental retardation. [aafp.org]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. [malattierare.toscana.it]
Mitchell LE (2005) Epidemiology of neural tube defects. Am J Med Genet 135: 88–94 CrossRef Google Scholar 7. Philip N, Chabrol B, Lossi AM et al. (2003) Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia. [link.springer.com]
Epidemiology The prevalence of MWS is currently unknown, but it seems probable that the syndrome is under-diagnosed, particularly in patients without HSCR [ 4 ]. [ojrd.biomedcentral.com]
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
Benign focal epilepsies of childhood: genetically determined pathophysiology. Report of an international workshop. Epilepsia. 2000 Aug; 41(8):1049-50. PMID: 10961636. View in: PubMed Mizrahi EM, Clancy RR. [profiles.viictr.org]
Chromosome 21 and Down syndrome: from genomics to pathophysiology. Nat Rev Genet 2004; 5 : 725–738. 12. Korenberg JR, Chen XN, Schipper R, Sun Z et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. [nature.com]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Prevention - Pachygyria with mental retardation and seizures Not supplied. [checkorphan.org]
Treatment with anticonvulsant drugs may help prevent, reduce, or control various types of epilepsy associated with CBPS. [rarediseases.org]
Preventable fraction of mental retardation: Analysis based with severe MR. Ment Retard 1996; 34:182–188. PubMed Google Scholar 2. Schafer GB, Bodensteiner JB. Evaluation of the child with idiopathic mental retardation. [link.springer.com]
[…] peri-natally, infancy, or early childhood); .2% incidence Can be associated with prematurity (especially as smaller premature infants continue to survive) and low birth weight; however, specific causes have not yet been identified Less than 15% result from a preventable [brainaacn.org]