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16 Possible Causes for Failure to Thrive, 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]

  • 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] Possible symptoms of lissencephaly include: Failure to thrive: Failure to thrive is a condition often seen in newborns in which growth is not occurring as expected.[verywell.com] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.org]

  • Neuronal Migration Defect

    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] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.org]

  • Infantile Choroidocerebral Calcification Syndrome

    Usually nodular heterotopia at ventricular junction.[radnotes.co.nz] […] to thrive Sensorineural hearing impairment SOURCES: MONDO SCTID ORPHANET MESH GARD OMIM More info about RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS Low[mendelian.co] Severe neurologic dysfunction becomes clinically apparent in infancy, and manifests as progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation[mendelian.co]

  • Pachygyria-Mental Retardation-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] Other symptoms may include: difficulty feeding failure to thrive intellectual impairment malformed fingers, toes, or hands muscle spasms psychomotor impairment seizures trouble[healthline.com] Patients with lissencephaly have severe psychomotor retardation and intractable seizures.[neuropathology-web.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] Symptoms - Edinburgh malformation syndrome * Facial abnormalities * Fluid buildup inside skull * Mental retardation * Retarded motor development * Failure to thrive * Infant[checkorphan.org] 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]

  • Cortical Blindness-Intellectual Disability-Polydactyly Syndrome

    In both patients there is a grey matter isointense, nodular tissue mass in the interpeduncular fossa representing an interpeduncular heterotopia (black arrows).[link.springer.com] Cardinal manifestations from late infancy include mild to severe intellectual disability, recurrent crises of fever, vomiting and diarrhea, failure to thrive, hypotonia and[rarediseasesnetwork.org] Dravet Syndrome Epilepsy, Hearing Loss, And Mental Retardation Syndrome Epileptic Encephalopathy, Early Infantile, 23 Hypotonia, Infantile, With Psychomotor Retardation And[familydiagnosis.com]

  • Genetic Anomaly of Leukocytes

    Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com] 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]

  • 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] […] to thrive Spasticity Prominent nasal bridge Microtia Gastroesophageal reflux Poor speech Oligodactyly Talipes equinovarus Underdeveloped nasal alae Breast hypoplasia Emphysema[mendelian.co] 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]

  • 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] Hypothalamic: "diencephalic syndrome" (failure to thrive and emaciation in a happy and hungry child).[hawaii.edu] Clinically, this picture can resemble a major affective disorder with psychomotor retardation, while the indifference bears occasional similarity to the "belle indifference[ect.org]

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