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Case report: rare skeletal manifestations in a child with primary hyperparathyroidism
BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hype...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521059/ https://www.ncbi.nlm.nih.gov/pubmed/28732535 http://dx.doi.org/10.1186/s12902-017-0197-z |
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author | Arambewela, Maulee Hiromi Liyanarachchi, Kamani Danushka Somasundaram, Noel P. Pallewatte, Aruna S. Punchihewa, Gamini L. |
author_facet | Arambewela, Maulee Hiromi Liyanarachchi, Kamani Danushka Somasundaram, Noel P. Pallewatte, Aruna S. Punchihewa, Gamini L. |
author_sort | Arambewela, Maulee Hiromi |
collection | PubMed |
description | BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum. Skeletal survey revealed valgus deformity of knee joints, bilateral subluxation of upper femoral epiphysis(SUFE), epiphyseal displacement of bilateral humeri, rugger jersey spine and subperiosteal bone resorptions in lateral aspects of 2nd and 3rd middle phalanges. There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. Intact parathyroid hormone levels were elevated at 790 pg/ml. Vitamin D levels were deficient. She had low bone mineral density with Z score of −3.4. Vitamin D supplementation resulted in worsening of hypercalcemia without reduction in PTH levels. Tc 99 Sestamibi uptake scan showed abnormal tracer retention in left inferior pole of thyroid. A large parathyroid gland was removed with histology favoring parathyroid adenoma. Post operatively she developed hypocalcemia. Bilateral osteotomy was done for SUFE and further surgeries for correction of limb deformities planned. CONCLUSION: PHPT in children is usually diagnosed late when irreversible organ damage has occurred. Children can present with non specific symptoms involving gastrointestinal, musculoskeletal, renal and neurological systems. PHPT can cause disarray in bone and epiphysis in children during pubertal growth spurt. Genu valgum and SUFE are rare skeletal manifestations in PHPT and only 10 cases of genu valgum and 9 cases of SUFE have been reported up to now. So far no cases have been reported on epiphyseal displacement of humeri. Awareness regarding the occurrence of these rare skeletal manifestations especially during puberty is important for early diagnosis to prevent irreversible outcomes. |
format | Online Article Text |
id | pubmed-5521059 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-55210592017-07-21 Case report: rare skeletal manifestations in a child with primary hyperparathyroidism Arambewela, Maulee Hiromi Liyanarachchi, Kamani Danushka Somasundaram, Noel P. Pallewatte, Aruna S. Punchihewa, Gamini L. BMC Endocr Disord Case Report BACKGROUND: Primary hyperparathyroidism (PHPT) is uncommon among children with an incidence of 1:300,000. This diagnosis is often missed in children in contrast to adults where it is detected at a pre symptomatic stage due to routine blood investigations. Etiology of PHPT can be due to adenoma, hyperplasia or rarely carcinoma. CASE PRESENTATION: A 12 year old Sri Lankan girl presented with progressive difficulty in walking since 1 year. On examination she had bilateral genu valgum. Skeletal survey revealed valgus deformity of knee joints, bilateral subluxation of upper femoral epiphysis(SUFE), epiphyseal displacement of bilateral humeri, rugger jersey spine and subperiosteal bone resorptions in lateral aspects of 2nd and 3rd middle phalanges. There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. Intact parathyroid hormone levels were elevated at 790 pg/ml. Vitamin D levels were deficient. She had low bone mineral density with Z score of −3.4. Vitamin D supplementation resulted in worsening of hypercalcemia without reduction in PTH levels. Tc 99 Sestamibi uptake scan showed abnormal tracer retention in left inferior pole of thyroid. A large parathyroid gland was removed with histology favoring parathyroid adenoma. Post operatively she developed hypocalcemia. Bilateral osteotomy was done for SUFE and further surgeries for correction of limb deformities planned. CONCLUSION: PHPT in children is usually diagnosed late when irreversible organ damage has occurred. Children can present with non specific symptoms involving gastrointestinal, musculoskeletal, renal and neurological systems. PHPT can cause disarray in bone and epiphysis in children during pubertal growth spurt. Genu valgum and SUFE are rare skeletal manifestations in PHPT and only 10 cases of genu valgum and 9 cases of SUFE have been reported up to now. So far no cases have been reported on epiphyseal displacement of humeri. Awareness regarding the occurrence of these rare skeletal manifestations especially during puberty is important for early diagnosis to prevent irreversible outcomes. BioMed Central 2017-07-21 /pmc/articles/PMC5521059/ /pubmed/28732535 http://dx.doi.org/10.1186/s12902-017-0197-z Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Arambewela, Maulee Hiromi Liyanarachchi, Kamani Danushka Somasundaram, Noel P. Pallewatte, Aruna S. Punchihewa, Gamini L. Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title | Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title_full | Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title_fullStr | Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title_full_unstemmed | Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title_short | Case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
title_sort | case report: rare skeletal manifestations in a child with primary hyperparathyroidism |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521059/ https://www.ncbi.nlm.nih.gov/pubmed/28732535 http://dx.doi.org/10.1186/s12902-017-0197-z |
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