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

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العنوان: An Unusual Combination of Neurological Manifestations and Sudden Vision Loss in a Child with Familial Hyperphosphatemic Tumoral Calcinosis.
المؤلفون: Lingappa L; Department of Neurology and Hemato-Oncology, Rainbow Children's Hospital and Birthright, Hyderabad, Telangana, India., Ichikawa S; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Gray AK; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Acton D; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Evans MJ; Department of Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA., Madarasu RC; Department of Nephrology, Star Hospital, Hyderabad, Telangana, India., Kekunnaya R; Jasti V Ramanamma Children's Eye Care Centre, LV Prasad Eye Institute, Hyderabad, Telangana, India., Siddaiahagari S; Department of Neurology and Hemato-Oncology, Rainbow Children's Hospital and Birthright, Hyderabad, Telangana, India.
المصدر: Annals of Indian Academy of Neurology [Ann Indian Acad Neurol] 2019 Jul-Sep; Vol. 22 (3), pp. 327-331.
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Medknow Country of Publication: India NLM ID: 101273955 Publication Model: Print Cited Medium: Print ISSN: 0972-2327 (Print) Linking ISSN: 09722327 NLM ISO Abbreviation: Ann Indian Acad Neurol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Mumbai, India : Medknow
مستخلص: 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.
Competing Interests: There are no conflicts of interest.
References: Hum Mol Genet. 2005 Feb 1;14(3):385-90. (PMID: 15590700)
J Mol Med (Berl). 2005 Jan;83(1):33-8. (PMID: 15599692)
J Clin Endocrinol Metab. 2005 Apr;90(4):2424-7. (PMID: 15687325)
Indian J Pediatr. 2005 Oct;72(10):889-90. (PMID: 16272668)
J Clin Endocrinol Metab. 2006 Nov;91(11):4472-5. (PMID: 16940445)
Biochim Biophys Acta. 2009 Sep;1792(9):847-52. (PMID: 19013236)
J Pediatr Ophthalmol Strabismus. 2009 Mar-Apr;46(2):112-4. (PMID: 19343974)
Am J Med Genet A. 2010 Apr;152A(4):896-903. (PMID: 20358599)
BMC Nephrol. 2011 Oct 15;12:56. (PMID: 21999942)
Adv Exp Med Biol. 2012;728:126-57. (PMID: 22396167)
BMC Genet. 2014 Sep 24;15:98. (PMID: 25249269)
Br J Ophthalmol. 1973 May;57(5):339-43. (PMID: 4576906)
AJNR Am J Neuroradiol. 1995 Jun-Jul;16(6):1252-4. (PMID: 7677018)
Histopathology. 1997 Jul;31(1):18-24. (PMID: 9253620)
فهرسة مساهمة: Keywords: Continuous ambulatory peritoneal dialysis; familial hyperphosphatemic tumor calcinosis; primary FGF23 deficiency; sevelamer; sudden vision loss
تواريخ الأحداث: Date Created: 20190731 Latest Revision: 20200930
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC6613414
DOI: 10.4103/aian.AIAN_191_18
PMID: 31359949
قاعدة البيانات: MEDLINE
الوصف
تدمد:0972-2327
DOI:10.4103/aian.AIAN_191_18