The n e w e ng l a n d j o u r na l
Images in Clinical Medicine
Udayshankar Yaga, M.D.S.
Prashanth Panta, M.D.S.
MNR Dental College
Telangana, India
maithreya.prashanth@gmail.com
e34
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Copyright 2017 Massachusetts Medical Society. All rights reserved.
of m e dic i n e
Chana A. Sacks, M.D., Editor
Osteopetrosis
A B
A
6-year-old girl was brought to the dentist by her parents, who
reported that she had only a single tooth. Her medical history revealed that
she was the child of consanguineous parents. She had partially impaired
hearing and had lost her vision at 2 years of age. In addition, she had strabismus,
frontal bossing, ocular hypertelorism, and short stature. Laboratory studies were
notable for a serum calcium level of 5.7 mg per deciliter (1.42 mmol per liter;
normal range, 8.7 to 10.3 mg per deciliter [2.18 to 2.58 mmol per liter]) and normal
serum phosphorus and alkaline phosphatase levels. Computed tomography revealed
diffusely thickened bones of the skull (Panel A, arrows). A radiograph of the wrists
showed alternating sclerotic and lucent bands (Panel B, arrows). These findings
were consistent with a diagnosis of osteopetrosis, a rare inherited disorder that is
characterized by increased bone density. Typically, mutations in one of several
genes lead to impaired osteoclast function and failure of bone resorption. Complica-
tions can include cranial nerve compression, brittle bones, and bone marrow failure.
Calcitriol was initiated, and the patient was referred for interferon gamma-1b
therapy; however, she was lost to follow-up.
DOI: 10.1056/NEJMicm1609871
Copyright 2017 Massachusetts Medical Society.
n engl j med 376;16 nejm.org April 20, 2017
The New England Journal of Medicine