Browsing by Subject "Calcinosis"

Now showing 1 - 5 of 5
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    The Case | Ectopic calcifications in a child
    (Nature Publishing Group, 2015-05) Keskar, Vaibhav S.; Imel, Erik A.; Kulkarni, Manjunath; Mane, Swati; Jamale, Tukaram E.; Econs, Michael J.; Hase, Niwrutti K.; Department of Medicine, IU School of Medicine
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    Central nervous system cryptococcosis: parenchymal calcification and large gelatinous pseudocysts
    (American Society of Neuroradiology, 1997-01) Caldemeyer, Karen S.; Mathews, Vincent P.; Edwards-Brown, Mary K.; Smith, Richard R.; Radiology and Imaging Sciences, School of Medicine
    In an 11-year-old immunocompetent girl with protracted cryptococcal infection of the central nervous system, CT showed multiple areas of parenchymal calcification. MR imaging showed large gelatinous pseudocysts around the brain stem. These imaging features and the child's age are unusual for intracranial cryptococcosis.
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    Familial hypophosphatemic rickets causing ocular calcification and optic canal narrowing
    (American Society of Neuroradiology, 1995) Caldemeyer, Karen S.; Smith, Richard R.; Edwards-Brown, Mary K.; Radiology and Imaging Sciences, School of Medicine
    In a case of familial hypophosphatemic rickets, marked bone thickening caused narrowing of the optic canals, resulting in bilateral optic atrophy. The case also showed metastatic calcification in the walls of both globes.
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    Severe vascular calcification and tumoral calcinosis in a family with hyperphosphatemia: a fibroblast growth factor 23 mutation identified by exome sequencing
    (Oxford University Press, 2014-12) Shah, Anuja; Miller, Clinton J.; Nast, Cynthia C.; Adams, Mark D.; Truitt, Barbara; Tayek, John A.; Tong, Lili; Mehtani, Parag; Monteon, Francisco; Sedor, John R.; Clinkenbeard, Erica L.; White, Kenneth; Mehrotra, Rajnish; LaPage, Janine; Dickson, Patricia; Adler, Sharon G.; Iyengar, Sudha K.; Department of Medical & Molecular Genetics, IU School of Medicine
    BACKGROUND: Tumoral calcinosis is an autosomal recessive disorder characterized by ectopic calcification and hyperphosphatemia. METHODS: We describe a family with tumoral calcinosis requiring amputations. The predominant metabolic anomaly identified in three affected family members was hyperphosphatemia. Biochemical and phenotypic analysis of 13 kindred members, together with exome analysis of 6 members, was performed. RESULTS: We identified a novel Q67K mutation in fibroblast growth factor 23 (FGF23), segregating with a null (deletion) allele on the other FGF23 homologue in three affected members. Affected siblings had high circulating plasma C-terminal FGF23 levels, but undetectable intact FGF23 or N-terminal FGF23, leading to loss of FGF23 function. CONCLUSIONS: This suggests that in human, as in experimental models, severe prolonged hyperphosphatemia may be sufficient to produce bone differentiation proteins in vascular cells, and vascular calcification severe enough to require amputation. Genetic modifiers may contribute to the phenotypic variation within and between families.