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Otomo T, Yamamoto T, Fujikawa Y, et al. Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. Clin Pediatr Endocrinol. 2011;20(1):7-12doi: 10.1297/cpe.20.7.
Otomo, T., Yamamoto, T., Fujikawa, Y., Shimotsuji, T., & Ozono, K. (2011). Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 20(1), 7-12. https://doi.org/10.1297/cpe.20.7
Otomo, Takanobu, et al. "Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism." Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology vol. 20,1 (2011): 7-12. doi: https://doi.org/10.1297/cpe.20.7
Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K. Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism. Clin Pediatr Endocrinol. 2011 Jan;20(1):7-12. doi: 10.1297/cpe.20.7. Epub 2011 Mar 26. PMID: 23926388; PMCID: PMC3687631.
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Clin Pediatr Endocrinol. 2011 Jan;20(1):7-12. doi: 10.1297/cpe.20.7. Epub 2011 Mar 26.

Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Takanobu Otomo, Takehisa Yamamoto, Yasuhiro Fujikawa, Tsunesuke Shimotsuji, Keiichi Ozono

Affiliations

  1. Department of Pediatrics, Minoh City Hospital, Osaka, Japan ; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

PMID: 23926388 PMCID: PMC3687631 DOI: 10.1297/cpe.20.7

Abstract

This present report concerns an infantile patient with mucolipidosis II, who showed transient cortical bone hyperostosis followed by severe osteopenia. The diagnosis of mucolipidosis II was made based on the leakage of lysosomal enzymes in serum and conditioned media of the patient's skin fibroblasts, low activity of lysosomal enzymes of the fibroblasts and mutation of c.2086_2089insC (p.L697fs) and c.3565C>T (p.R1189X) in the GNPTAB gene. Bone X-ray analysis demonstrated a periosteal reaction and elevated bone resorption at the age of 2 mo. Bone markers, including alkaline phosphatase, osteocalcin and urine deoxypyridinoline, also indicated a high turnover of bone metabolism; however, no apparent rickets-like changes and no increased levels of PTH were observed. Elevated bone resorption is possibly associated with the leakage of lysosomal enzyme from osteoclasts into bone matrices. Bone formation gradually reduced, and increased bone resorption persisted. This led to severe osteopenia at the age of 6 mo. Characteristic bone findings may contribute to early diagnosis of mucolipidosis II, but their pathogenesis remains to be clarified.

Keywords: bone formation; bone resorption; lysosome; osteoclast; parathyroid hormone

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