An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis
| Autor: | Lokesh Lingappa, Shoji Ichikawa, Amie K Gray, Dena Acton, Michael J Evans, Rajsekara Chakravarthi Madarasu, Ramesh Kekunnaya, Sirisharani Siddaiahagari |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: | |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 22, Iss 3, Pp 327-331 (2019) |
| Druh dokumentu: | article |
| ISSN: | 0972-2327 1998-3549 |
| DOI: | 10.4103/aian.AIAN_191_18 |
| Popis: | Hyperphosphatemia in the absence of renal failure is an unusual occurrence, particularly in children, but is a common primary feature of familial hyperphosphatemic tumor calcinosis. We report a child with hyperphosphatemia who presented with multiple episodes of neurologic dysfunction involving lower motor neuron facial nerve palsy along with sequential visual loss. He also had an episode of stroke. There was an extensive metastatic calcification of soft tissue and vasculature. Hyperphosphatemia with normal serum alkaline phosphatase, calcium, parathyroid hormone, and renal function was noted. He was managed with hemodialysis and sevelamer (3 months) without much success in reducing serum phosphate level, requiring continuous ambulatory peritoneal dialysis (3 years). Intact fibroblast growth factor 23 (FGF23) was undetectable, with C-terminal FGF23 fragments significantly elevated (2575 RU/ml, normal A (p.N162K) mutation in FGF23 exon 3, confirming the diagnoses of primary FGF23 deficiency, the first case to be reported from India. |
| Databáze: | Directory of Open Access Journals |
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