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Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report

RATIONALE: Hypophosphatemic rickets (HR) is a rare hereditary disease characterized by hypophosphatemia, defects in bone mineralization, and rickets, and surgical intervention is warranted for the patient of severe skeletal deformity. PATIENT CONCERNS: Here we report a case of an 11-year-old boy who...

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Autores principales: Li, Jin, Rai, Saroj, Ze, Renhao, Tang, Xin, Liu, Ruikang, Hong, Pan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220249/
https://www.ncbi.nlm.nih.gov/pubmed/32011435
http://dx.doi.org/10.1097/MD.0000000000018425
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author Li, Jin
Rai, Saroj
Ze, Renhao
Tang, Xin
Liu, Ruikang
Hong, Pan
author_facet Li, Jin
Rai, Saroj
Ze, Renhao
Tang, Xin
Liu, Ruikang
Hong, Pan
author_sort Li, Jin
collection PubMed
description RATIONALE: Hypophosphatemic rickets (HR) is a rare hereditary disease characterized by hypophosphatemia, defects in bone mineralization, and rickets, and surgical intervention is warranted for the patient of severe skeletal deformity. PATIENT CONCERNS: Here we report a case of an 11-year-old boy who presented with severe varus deformities of the bilateral lower extremities and was associated with uncoordinated gait with multiple unintentional falls onto ground resulting in fractures of lower extremities. DIAGNOSES: He was diagnosed as HR caused by genetic mutations in the phosphate-regulating endopeptidase homologue. Based on his family history and laboratory tests, including high serum alkaline phosphatase, high urinary phosphorus, hypophosphatemia, and normal serum calcium level, the patient was diagnosed with this disorder. INTERVENTIONS: Rotational and translational osteotomy was performed to redress the severe varus deformity and readjust the malalignment of the lower extremity. OUTCOMES: Right after the surgery, the alignment in the left lower extremity was readjusted, and his appearance seemed normal. Combined with rehabilitation and pharmacological intervention, including oral intake of phosphate and alphacalcidol, the bone healed uneventfully. After the second surgery of a similar procedure on the right femur, the patient was able to walk almost like a normal teenager. LESSONS: This case proposed a novel technique to treat severe varus or valgus deformity of the lower extremity. HR is a rare disease, and it is important to stress its recognition to avoid delay of diagnosis and surgical intervention if necessary.
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spelling pubmed-72202492020-06-15 Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report Li, Jin Rai, Saroj Ze, Renhao Tang, Xin Liu, Ruikang Hong, Pan Medicine (Baltimore) 7100 RATIONALE: Hypophosphatemic rickets (HR) is a rare hereditary disease characterized by hypophosphatemia, defects in bone mineralization, and rickets, and surgical intervention is warranted for the patient of severe skeletal deformity. PATIENT CONCERNS: Here we report a case of an 11-year-old boy who presented with severe varus deformities of the bilateral lower extremities and was associated with uncoordinated gait with multiple unintentional falls onto ground resulting in fractures of lower extremities. DIAGNOSES: He was diagnosed as HR caused by genetic mutations in the phosphate-regulating endopeptidase homologue. Based on his family history and laboratory tests, including high serum alkaline phosphatase, high urinary phosphorus, hypophosphatemia, and normal serum calcium level, the patient was diagnosed with this disorder. INTERVENTIONS: Rotational and translational osteotomy was performed to redress the severe varus deformity and readjust the malalignment of the lower extremity. OUTCOMES: Right after the surgery, the alignment in the left lower extremity was readjusted, and his appearance seemed normal. Combined with rehabilitation and pharmacological intervention, including oral intake of phosphate and alphacalcidol, the bone healed uneventfully. After the second surgery of a similar procedure on the right femur, the patient was able to walk almost like a normal teenager. LESSONS: This case proposed a novel technique to treat severe varus or valgus deformity of the lower extremity. HR is a rare disease, and it is important to stress its recognition to avoid delay of diagnosis and surgical intervention if necessary. Wolters Kluwer Health 2020-01-17 /pmc/articles/PMC7220249/ /pubmed/32011435 http://dx.doi.org/10.1097/MD.0000000000018425 Text en Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by/4.0 This is an open access article distributed under the Creative Commons Attribution License 4.0 (CCBY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. http://creativecommons.org/licenses/by/4.0
spellingShingle 7100
Li, Jin
Rai, Saroj
Ze, Renhao
Tang, Xin
Liu, Ruikang
Hong, Pan
Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title_full Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title_fullStr Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title_full_unstemmed Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title_short Rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: A case report
title_sort rotational and translational osteotomy for treatment of severe deformity in hypophosphatemic rickets: a case report
topic 7100
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220249/
https://www.ncbi.nlm.nih.gov/pubmed/32011435
http://dx.doi.org/10.1097/MD.0000000000018425
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