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23 Possible Causes for Nodular Heterotopia of the Grey Matter, Psychomotor Retardation

  • Lissencephaly

    Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA[ncbi.nlm.nih.gov] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] , whereas the DCX mutant brains showed more nodular heterotopia and irregular disruptions of the grey matter-white matter junction.[doi.org]

  • Medial Sclerosis

    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] Seite 30 - In children, consider failure to make expected weight gains 4 Insomnia or hypersomnia nearly every day 5 Psychomotor agitation or retardation nearly every day ([books.google.de] There are two types of heterotopia: subependymal and subcortical. The most common clinical presentation is intractable seizures.[radiologyassistant.nl]

  • Hemimegalencephaly

    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] retardation and intractable seizures.[orpha.net] Clinically, HME is typically associated with hemiparesis, psychomotor retardation, and intractable seizures usually apparent soon after birth.[ncbi.nlm.nih.gov]

  • Occipital Lobe Tumor

    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] Clinically, this picture can resemble a major affective disorder with psychomotor retardation, while the indifference bears occasional similarity to the "belle indifference[ect.org] There are two types of heterotopia: subependymal and subcortical. The most common clinical presentation is intractable seizures.[radiologyassistant.nl]

  • Infantile Choroidocerebral Calcification Syndrome

    Usually nodular heterotopia at ventricular junction.[radnotes.co.nz] Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation[mendelian.co] (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.[mendelian.co]

  • Vertical Heterotropia

    Introduction Periventricular nodular heterotopia (PNH) consist of bilateral subependymal nodules of grey matter found along the walls of the lateral ventricles that typically[academic.oup.com] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.org] Severe MCDs such as lissencephaly and polymicrogyria are associated with psychomotor retardation and intractable seizures.[neuropathology-web.org]

  • Lissencephaly 6 with Microcephaly

    Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[twoifbyfaith.com] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.org] Severe MCDs such as lissencephaly and polymicrogyria are associated with psychomotor retardation and intractable seizures.[neuropathology-web.org]

  • Blepharofacioskeletal Syndrome

    MRI of the brain and spine ( Figure 4g–i ) showed nodular subependymal grey matter heterotopia bilaterally in the bodies and occipital horns of the lateral ventricles.[nature.com] Niemann-Pick disease type C (NPC): This autosomal recessive disorder is almost invariably characterized by two major features: psychomotor retardation and supranuclear downgaze[neuroweb.us] Brain MRI demonstrated extensive subependymal grey matter heterotopia (bilateral nodular periventricular heterotopia (BNPH)) adopting a laminar appearance in the occipital[nature.com]

  • Genetic Anomaly of Leukocytes

    This can be associated with periventricular nodular heterotopia (FLNA-PVNH), a disease characterized by the migration of grey matter to places outside of the cortex in the[pdsa.org] Macrothrombocytopenia, psychomotor retardation, and nephropathy: A novel familial syndrome.[sjkdt.org] Our study patients had recurrent thrombocytopenia with giant platelets, psychomotor retardation, nephropathy, an abnormal gait, and a speech defect.[sjkdt.org]

  • Edinburgh Malformation Syndrome

    Periventricular Nodular Heterotopia PNH consists of nodules of grey matter located along the lateral ventricles with a total failure of migration of some neurons [Barkovich[karger.com] Number of children (n 36) % Psychomotor retardation 28 77.78 Cardiovascular signs Murmur 12 33.33 Dyspnea 7 19.44 Cyanosis 1 2.78 Dismorphic signs Obliquity of the palpebral[omicsonline.org]

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