This is a case report of a seven-year-old girl evacuated from Sao Tome and Principe due to rickets. She started walking at age 3, was unable to walk since age 4, and had recurrent episodes of respiratory distress11. Maia MLA, Abreu ALS, Nogueira PCK, Val MLDMD, Carvalhaes JTA, Andrade MC. Hypophosphatemic rickets: case report. Rev Paul Pediatr. 2018;36(2):242–7. doi: http://dx.doi.org/10.1590/1984-0462/;2018;36;2;00009. PubMed PMID: 29617471.
https://doi.org/10.1590/1984-0462/;2018;...
. At physical examination, she was malnourished, had bell-shaped thorax, deformed and varus limbs, and missing teeth. Blood tests revealed severe hypocalcemia (6.4 mg/dL) and hypophosphatemia (2.5 mg/dL), high alkaline phosphatase (4161 U/L) and parathyroid hormone (509.6 pg/ml), normal range 25-hydroxyvitamin D; 1,25-dihydroxyvitamin D was not performed. Genetic study identified mutations in both CYP27B122. Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK. A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene. Ann Pediatr Endocrinol Metab. 2019;24(2):137–41. doi: http://dx.doi.org/10.6065/apem.2019.24.2.137. PubMed PMID: 31261480.
https://doi.org/10.6065/apem.2019.24.2.1...
gene copies, leading to alterations in alpha-1-hydroxylase function. A diagnosis of vitamin-D-dependent rickets type 1A was made.
REFERENCES
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1Maia MLA, Abreu ALS, Nogueira PCK, Val MLDMD, Carvalhaes JTA, Andrade MC. Hypophosphatemic rickets: case report. Rev Paul Pediatr. 2018;36(2):242–7. doi: http://dx.doi.org/10.1590/1984-0462/;2018;36;2;00009. PubMed PMID: 29617471.
» https://doi.org/10.1590/1984-0462/;2018;36;2;00009 -
2Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK. A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene. Ann Pediatr Endocrinol Metab. 2019;24(2):137–41. doi: http://dx.doi.org/10.6065/apem.2019.24.2.137. PubMed PMID: 31261480.
» https://doi.org/10.6065/apem.2019.24.2.137
Publication Dates
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Publication in this collection
06 Oct 2023 -
Date of issue
Jul-Sep 2023
History
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Received
12 Apr 2023 -
Accepted
26 June 2023