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Neuronal Migration Defect


Presentation

  • We do hope that the present ebook will further stimulate the interest in the fascinating investigations of neuronal migration and corticogenesis.[books.google.de]
  • Rare diseases Search Search for a rare disease Microlissencephaly Disease definition Microlissencephaly describes a heterogenous group of a rare cortical malformations characterized by lissencephaly in combination with severe congenital microcephaly, presenting[orpha.net]
  • In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia).[orpha.net]
  • Congenital cytomegalovirus infection presenting as a cerebral ventriculomegaly on antenatal sonography. Am J Perinatol 1993;10:404-6. [ PUBMED ] 5. Soussotte C, Maugey-Laulom B, Carles D, Diard F.[doi.org]
  • The corticospinal tract was hypoplastic in the one ARX mutant brain with pons present for examination, but normal numbers of basis pontine neurons were present.[doi.org]
Muscle Rigidity
  • rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).[ghr.nlm.nih.gov]
Short Arm
  • Abstract A new gene from the distal short arm of the human X chromosome has recently been cloned and characterized. Mutations in this gene lead to the neuronal migration defect observed in Kallmann syndrome.[ncbi.nlm.nih.gov]
  • Cordocentesis showed a normal 46,XY karyotype, and no short arm deletion of chromosome 17 was detectable. Postmortem examination confirmed complete agyria of the whole fetal brain.[doi.org]
Aura
  • These are called auras. What should I do while my child is having a seizure? If the seizure is small twitching or staring, they should come out of it easily.[childrens.com]

Treatment

  • There is no treatment for neuronal migration defect, but treatment is focused on the symptoms, which can include seizure.[childrens.com]
  • […] and allied health professionals, this up-to-date edition alternates scientific and clinical chapters that explain the basic science underlying neurological processes and then relate that science to the understanding of neurological disorders and their treatment[books.google.de]
  • Management and treatment Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia, and treatment of gastrooesophageal[orpha.net]
  • Treatment There is no cure for lissencephaly, but children can show progress in their development over time. Supportive care may be needed to help with comfort, feeding, and nursing needs.[ninds.nih.gov]
  • Anti-convulsant treatment initially was with sodium valproate, and phenobarbitone was added at age 5 years and phenytoin at age 21 years, Sodium valproate was stopped 3 years later.[jmg.bmj.com]

Prognosis

  • Prognosis The prognosis for children with lissencephaly depends on the degree of brain malformation. Many will die before the age of 10 years. The cause of death is usually aspiration of food or fluids, respiratory disease, or severe seizures.[ninds.nih.gov]
  • Prognosis The encephalopathy associated with lissencephaly is often very severe and affected children are completely dependent on their carer. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Prognosis The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms. x Prognosis The prognosis for children with NMDs varies depending on the specific[ninds.nih.gov]
  • [ edit ] The prognosis for children with NMDs varies depending on the specific disorder and the degree of brain abnormality and subsequent neurological signs and symptoms. [2] References [ edit ] Sarnat, Harvey (1992).[en.wikipedia.org]
  • Histopathologic grading of NMD is important due to its association with neocortical development and expectation of prognosis. Many studies revealed abnormalities of neuronal cytoskeletal protein in abnormal neuronal cells of NMD.[jpatholtm.org]

Etiology

  • Indeed, an increasing number of studies have suggested that disruption of neuronal migration is involved in the etiology of neurodevelopment disorders (NDDs), like schizophrenia, autism spectrum disorder, attention-deficit/hyperactivity disorder, and[jhu.pure.elsevier.com]
  • Among the viral infections, CMV is a very important etiological factor in the causation of lissencephaly. Other causes of central nervous system infections are toxoplasmosis, rubella, herpes simplex, human immunodeficiency virus and syphilis.[doi.org]
  • Schizencephaly is grouped as a neuronal migration disorder although the exact etiology is unknown. Schizencephaly is an example of abnormal neuronal migration that may occur locally rather than globally.[encyclopedia.com]
  • Pietro Gaglioti, Manuela Oberto and Tullia Todros, The significance of fetal ventriculomegaly: etiology, short‐ and long‐term outcomes, Prenatal Diagnosis, 29, 4, (381-388), (2009).[doi.org]
  • Genetic mutations, environmental toxins and neurotropic virus have been associated as etiological agents related to neuronal migration.[article.sciencepublishinggroup.com]

Epidemiology

  • Summary Epidemiology The incidence of all forms of type I lissencephaly is around 1 in 100,000 births.[orpha.net]
  • Epidemiology of lissencephaly type I. Neuroepidemiology 1991;10:200-4. 3. Malinger G, Lev D, Zahalka N, Ben Aroia Z, Watemberg N, Kidron D, et al. Fetal cytomegalovirus infection of the brain: The spectrum of sonographic findings.[doi.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]
Sex distribution
Age distribution

Pathophysiology

  • Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi: 10.1007/s00401-010-0768-9. Epub 2010 Nov 3. Review. Guerrini R, Parrini E.[ghr.nlm.nih.gov]
  • The role of the excitotoxic cascade is described, where experimental studies have confirmed that ischemia and excitatory amino acids can play a pathophysiologic role in polymicrogyria.[ajnr.org]
  • Alterations of migration, as well as in the cytoarchitecture, proliferation, lamination and neuronal physiology are the pathophysiological basis of CDM.[article.sciencepublishinggroup.com]
  • Role of a circadian-relevant gene, NR1D1, in the brain development: possible involvement in the pathophysiology of autism spectrum disorders. Sci. Rep., 2017; 7: 43945.[med.nagoya-u.ac.jp]

Prevention

  • Management and treatment Management is symptomatic only (swallowing problems require adapted feeding to prevent food aspiration, articular and respiratory physiotherapy to prevent orthopaedic problems resulting from hyptonia, and treatment of gastrooesophageal[orpha.net]
  • Treatment is symptomatic and includes the use of antiepileptic medications to prevent and correct seizures, along with physical, occupational and speech therapies to support the child with the various problems associated with the disorder.[news-medical.net]
  • Overview of the main outcomes in breast-cancer prevention trials. Lancet 2003 ; 361 : 296 –300. Rebbeck TR , Friebel T, Lynch HT, Neuhausen SL, van’t Veer L, Garber JE, Evans GR, Narod SA, Isaacs C, Matloff E, Daly MB, Olopade OI, Weber BL.[jmg.bmj.com]
  • The knowledge gained from these studies provides the foundation for developing treatments and preventive measures for neuronal migration disorders. Information from the National Library of Medicine’s MedlinePlus Brain Malformations[ninds.nih.gov]
  • An accurate diagnosis of lissencephaly and CMV infection is mandatory as appropriate preventive measures may be instituted in high-risk pregnancies.[doi.org]

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