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Case Reports
. 2020 Apr 28;4(6):bvaa044.
doi: 10.1210/jendso/bvaa044. eCollection 2020 Jun 1.

Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia

Jurhee Freese  1 , Erin Greenup  1 , Bhuvana Sunil  1 , Ambika P Ashraf  1
Affiliations
Case Reports

Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia

Jurhee Freese et al. J Endocr Soc. .

Abstract

Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation.

Keywords: TCIRG1; hypocalcemia; hypophosphatemia; osteopetrorickets; osteopetrosis.

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Figures

Figure 1.
Figure 1.
Skeletal survey on initial presentation. Legend: skeletal survey illustrating rachitic changes of cupping, fraying, and fragmentation of metaphysis (A) and increased diaphyseal bone density (B).
Figure 2.
Figure 2.
Skeletal survey post-transplant. Legend: x-ray at 7 weeks post-transplant showing hyperdensity of marrow and early healing cortex and periosteal changes (C).
See this image and copyright information in PMC

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