Blood Research Educational Material BLOOD RESEARCH Volume 49ㆍNumber 2ㆍJune 2014 http://dx.doi.org/10.5045/br.2014.49.2.84

Osteomalacia and myelofibrosis as a manifestation of vitamin D deficiency Il-Geun Song, Chan-Jeoung Park Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea Correspondence to Chan-Jeoung Park, M.D., Ph.D., Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, 88, Olympic-ro 43-gil, Songpa-gu, Seoul 138-736, Korea, E-mail: [email protected]

Vitamin D depletion may lead to metabolic bone diseases, including osteomalacia and myelofibrosis. A 23-month-old girl received a jejunum tapering and anastomosis for small bowel atresia after birth. She was diagnosed as having short bowel syndrome at Asan Medical Center after admission for recurrent vomiting. A Broviac catheter was inserted for parenteral nutrition following discharge. During another hospitalization, she complained of a hip pain. The radiologist interpreted the magnetic resonance image as bone marrow (BM) metastasis of a small round cell tumor or hematologic malignancy. BM study showed no malignant cells, but BM biopsy revealed prominently increased osteoblasts (A, hematoxylin and eosin [H&E] stain, ×400), abnormal osteoid production (B, H&E stain, ×400), consistent with osteomalacia, and focal myelofibrosis (C, Masson’s trichrome stain, ×400; D, reticulin stain, ×400). The laboratory test results were as follows: normal serum calcium (9.0 mg/dL), phosphorus (3.6 mg/dL), alkaline phosphatase (341 IU/L); high parathyroid hormone (PTH) (35.6 pg/mL); low 25-OH-vitamin D3 (1.5 ng/mL), and low 1 alpha, 25-(OH)2-vitamin D3 (71.9 pg/mL). After 2 weeks of vitamin D treatment, PTH decreased to 10.6 pg/mL, and 25-OH-vitamin D3 and 1 alpha, 25-(OH)2-vitamin D3 increased to 13.0 ng/mL and 84.4 pg/mL respectively, which are normal. 84 This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Osteomalacia and myelofibrosis as a manifestation of vitamin D deficiency.

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