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133 Possible Causes for Subependymal Calcifications

  • X-Linked Intellectual Disability - Seizures - Psoriasis Syndrome

    calcification and cataracts (HDBSCC) [MIM: 613730 ] JPH2 Q9BR39 non-pleiotropic Cardiomyopathy, familial hypertrophic 17 (CMH17) [MIM: 613873 ] KAL1 P23352 non-pleiotropic[sbg.bio.ic.ac.uk] AML) [MIM: 601626 ] Polycythemia vera (PV) [MIM: 263300 ] Thrombocythemia 3 (THCYT3) [MIM: 614521 ] JAM3 Q9BX67 non-pleiotropic Hemorrhagic destruction of the brain with subependymal[sbg.bio.ic.ac.uk]

  • Celiac Disease, Epilepsy and Cerebral Calcification Syndrome

    Our patient lacked subependymal calcifications/tubers of tuberous sclerosis.[neurologyindia.com] Calcified neurocysticercosis/brain tumors produce nongyriform calcification.[neurologyindia.com] Calcifications in Fahr's syndrome involve the globus pallidus, the caudate-putamen complex and the cerebellum (straito-pallidal-dentate region).[neurologyindia.com]

  • Tumoral Calcinosis

    Greenberg Dysplasia Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts Hyperphosphatemia, Polyuria, and Seizures hyperphosphatemic familial tumoral[rgd.mcw.edu] , Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration Epilepsy, Occipital Calcifications Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification[rgd.mcw.edu] […] syndrome Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification diffuse idiopathic skeletal hyperostosis Encephalopathy with Intracranial Calcification[rgd.mcw.edu]

  • Radial Ray Hypoplasia - Choanal Atresia Syndrome

    Subependymal calcification can be seen on CT scans. Most individuals do not live beyond the neonatal period or early infancy.[disorders.eyes.arizona.edu] A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts .[disorders.eyes.arizona.edu] Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification Clinical Characteristics Ocular Features: Bilateral neonatal leukocoria secondary to dense congenital[disorders.eyes.arizona.edu]

  • TORCH Syndrome

    A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.[neurosciencesjournal.org] A head CT revealed marked dilatation of the left lateral ventricle, subependymal calcifications in the wall of the lateral ventricle, scattered parenchymal calcifications[neurosciencesjournal.org] Figure 4 - Brain MRI of family II, patient 3, showing marked dilatation of the left ventricle, subependymal calcifications in the wall of the lateral ventricle, scattered[neurosciencesjournal.org]

  • Congenital Rubella Syndrome

    Although CT defines calcification, it is less sensitive than MRI to white matter changes and does not demonstrate subependymal cysts.[ncbi.nlm.nih.gov] Cranial ultrasonography defines subependymal cysts, calcification and possible vascular changes in the basal ganglia while MRI is the most sensitive to minor atrophic changes[ncbi.nlm.nih.gov] We have observed congenital rubella syndrome lesions in the subependymal area, the basal ganglia and the deep white matter.[ncbi.nlm.nih.gov]

  • Acrootoocular Syndrome

    Subependymal calcification can be seen on CT scans. Most individuals do not live beyond the neonatal period or early infancy.[disorders.eyes.arizona.edu] A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts .[disorders.eyes.arizona.edu] Cataracts, Congenital, with Brain Hemorrhage and Subependymal Calcification Clinical Characteristics Ocular Features: Bilateral neonatal leukocoria secondary to dense congenital[disorders.eyes.arizona.edu]

  • Basal Ganglia Mass Lesion

    Cytomegalovirus and toxoplasmosis infections result in peri-ventricular and subependymal calcifications.[neuroradiologycases.com] Associated with cortical hamartomas which may show calcification.[neuroradiologycases.com] In tuberous sclerosis, Calcified subependymal nodules along the lateral ventricle and caudo thalamic groove.[neuroradiologycases.com]

  • Idiopathic Hemiconvulsion - Hemiplegia Syndrome

    calcification, and cataracts [PATH: hsa04530 ] H00798 Familial carpal tunnel syndrome H01812 Rasmussen encephalitis [PATH: hsa04660 ] H01490 Multiple sclerosis H01491 Neuromyelitis[genome.jp] […] mirror movements [PATH: hsa04360 hsa03440 ] H01293 Narcolepsy H01296 Hereditary neuropathy with liability to pressure palsies H01301 Hemorrhagic destruction of the brain, subependymal[genome.jp]

  • Pulmonary Lymphangioleiomyomatosis

    Brain CT scan (not shown) demonstrated small subependymal calcifications. Overall constellation of findings is compatible with Tuberous Sclerosis.[jaocr.org]

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