An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.
Continuous ambulatory peritoneal dialysis
familial hyperphosphatemic tumor calcinosis
primary FGF23 deficiency
sevelamer
sudden vision loss
Journal
Annals of Indian Academy of Neurology
ISSN: 0972-2327
Titre abrégé: Ann Indian Acad Neurol
Pays: India
ID NLM: 101273955
Informations de publication
Date de publication:
Historique:
entrez:
31
7
2019
pubmed:
31
7
2019
medline:
31
7
2019
Statut:
ppublish
Résumé
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 (
Identifiants
pubmed: 31359949
doi: 10.4103/aian.AIAN_191_18
pii: AIAN-22-327
pmc: PMC6613414
doi:
Types de publication
Case Reports
Langues
eng
Pagination
327-331Déclaration de conflit d'intérêts
There are no conflicts of interest.
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