J Bone Metab.  2020 Feb;27(1):71-75. 10.11005/jbm.2020.27.1.71.

Paget's Disease of Bone Affecting Peripheral Limb: Difficulties in Diagnosis: A Case Report

Affiliations
  • 1Department of Orthopaedic Surgery, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • 2Department of Pathology, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.
  • 3Department of Internal Medicine, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea. raisondetre@hanmail.net

Abstract

In terms of management of Paget's disease of bone (PDB), early diagnosis and proper management achieving remission is essential with lifelong specialist follow-up. We present the case of a 40-year-old woman with PDB affecting mainly the distal extremities (ankle and wrist). The patient visited our hospital in 2012 with heel pain. Plain radiography revealed osteoporosis, and a bone scan revealed hot uptake. Initial laboratory investigations showed normal serum calcium, 25-hydroxy-vitamin D, and parathyroid hormone levels; however, osteocalcin, C-terminal telopeptide of type I collagen, and bone alkaline phosphatase levels were elevated. A bone mineral density scan showed T- and Z-scores of −2.5 and −2.7, respectively, and bisphosphonate treatment was initiated. Biopsy performed on the calcaneal lateral wall revealed inconclusive findings. Follow-up biopsy on the left distal radius was performed 7 years later to investigate wrist pain, and this examination led to a final diagnosis as PDB. We suggest inconclusive biopsy result during the early phase of PDB and highly recommend follow-up evaluation in osteoporosis with atypical behavior.

Keyword

Alkaline phosphatqse; Biopsy; Diphosphonates; Osteitis deformans

MeSH Terms

Adult
Alkaline Phosphatase
Biopsy
Bone Density
Calcium
Collagen Type I
Diagnosis*
Diphosphonates
Early Diagnosis
Extremities*
Female
Follow-Up Studies
Heel
Humans
Osteitis Deformans*
Osteocalcin
Osteoporosis
Parathyroid Hormone
Radiography
Radius
Specialization
Wrist
Alkaline Phosphatase
Calcium
Collagen Type I
Diphosphonates
Osteocalcin
Parathyroid Hormone

Figure

  • Fig. 1 Initial imaging studies performed at the time of the patient's first visit for right heel pain. (A) A standing lateral ankle radiograph showing osteoporosis around the ankle joint. (B) A computed tomography scan (sagittal view) showing severe osteoporosis, particularly involving the calcaneus. (C) A whole-body bone scan presented increased uptake at the right calcaneus.

  • Fig. 2 Bone biopsy result performed on right lateral calcaneal wall on May 2012. (A) Intense activation of osteoclast (arrows) showing bone resorption. Irregular thin and thick bone trabecular with osteoblastic rimming (×100). (B) Abnormal wavy cement lines were also noticed (×200).

  • Fig. 3 Lateral radiograph of the ankle obtained on April 6, 2015 showing an avulsion fracture of the posterior tuberosity of the calcaneus.

  • Fig. 4 Wrist radiograph (anteroposterior view) showing diffuse osteopenia of the bone around the wrist joint.

  • Fig. 5 Bone biopsy done on the left radial aspect of distal radius bone on August 2019. Irregularly broad trabeculae with disorganized cement lines and patchy mosaic pattern (thin arrows), osteoclastic activity was much reduced and focally observed as with osteoblastic rimming (thick arrow) (×200).

  • Fig. 6 Follow-up radiologic evaluation in 2019, whole body bone scan (A) and lateral plain X-ray of right ankle presenting bony deformity (B).


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