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20 Possible Causes for Failure to Thrive, Nodular Heterotopia of the Grey Matter, Seizure

  • 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] It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy.[ncbi.nlm.nih.gov]

  • 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] Diseases related with Seizures and Cerebral calcification In the following list you will find some of the most common rare diseases related to Seizures and Cerebral calcification[mendelian.co]

  • Parietal 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] Infants with brainstem tumors may also initially present with failure to thrive.[ncbi.nlm.nih.gov] Subtypes of parietal lobe seizures Primary sensory area (post-central gyrus) Seizures onset with contralateral (or rarely ipsilateral or bilateral) focal somatosensory seizure[epilepsydiagnosis.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] Novalee was born with a rare disease that at 6-months developed into frequent and potentially severe seizures, sometimes as often as 100 times a day.[latimes.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]

  • 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] Headaches and seizures are additional complaints.[symptoma.com]

  • 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] Some people still know this type of seizure as a grand mal seizure. Absence seizure This type of seizure may involve staring into space.[childrens.com] , whereas the DCX mutant brains showed more nodular heterotopia and irregular disruptions of the grey matter-white matter junction.[doi.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] seizures Generalized onset tonic-clonic seizures Hemorrhagic shock and encephalopathy syndrome Hepatorenal tyrosinemia Hyposmia in neurodegenerative disorders Ischemic optic[medlink-blog.com]

  • 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] Symptoms - Pachygyria with mental retardation and seizures * Mental retardation * Seizures * Premature birth Causes - Pachygyria with mental retardation and seizures Not supplied[checkorphan.org]

  • Dilation of Vein of Galen

    Periventricular (subependymal) heterotopias These are nodular grey matter foci in subependymal area which shows signal intensity similar to cortex on all MR sequences and[jdrntruhs.org] A high number of these children present with failure to thrive. Older children and adults usually have low-flow fistulae.[neurosurgery.ufl.edu] […] were congestive cardiac failure (110 cases), raised intracranial pressure secondary to hydrocephalus (94 cases), cranial bruit (57 cases), focal neurological deficit (37), seizures[ncbi.nlm.nih.gov]

  • 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] Appetite Poor Feeding Vomiting Poor Sucking and Swallowing Lack of Smiling or Vocalizing Poor Muscle Tone Dilated/Unequal Pupil Size Buling and/or Spongy Forehead Rigidity Seizures[dontshake.ca]

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