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Ann Indian Acad Neurol. 2019 Jul-Sep;22(3):327-331. doi: 10.4103/aian.AIAN_191_18.

An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.

Author information

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.

Abstract

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.

KEYWORDS:

Continuous ambulatory peritoneal dialysis; familial hyperphosphatemic tumor calcinosis; primary FGF23 deficiency; sevelamer; sudden vision loss

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