Annals of Indian Academy of Neurology
  Users Online: 1996 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
Year : 2019  |  Volume : 22  |  Issue : 3  |  Page : 327-331

An unusual combination of neurological manifestations and sudden vision loss in a child with familial hyperphosphatemic tumoral calcinosis

1 Department of Neurology and Hemato-Oncology, Rainbow Children's Hospital and Birthright, Hyderabad, Telangana, India
2 Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA
3 Department of Nephrology, Star Hospital, Hyderabad, Telangana, India
4 Jasti V Ramanamma Children's Eye Care Centre, LV Prasad Eye Institute, Hyderabad, Telangana, India

Correspondence Address:
Dr. Lokesh Lingappa
Rainbow Children's Hospital and Birthright, Banjara Hills, Hyderabad - 500 034, Telangana
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_191_18

Rights and Permissions

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 <180 RU/ml). Sequencing demonstrated homozygous c.486C >A (p.N162K) mutation in FGF23 exon 3, confirming the diagnoses of primary FGF23 deficiency, the first case to be reported from India.

Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)

 Article Access Statistics
    PDF Downloaded69    
    Comments [Add]    

Recommend this journal