ARRS Case of the Week

MUSCULOSKELETAL IMAGING: Metabolic/Hematologic

Case Author: Daniel E. Wessell, MD, PhD, Mallinckrodt Institute of Radiology at Washington University in Saint Louis

History

29-year-old man with bilateral hand pain.

Imaging Findings

Dorsopalmar radiographs of the left (A) and right (B) hands show brachydactyly, brachyphalangia, undertubulation of the metacarpals and phalanges, ulnar exostoses, and diffuse soft-tissue calcifications. Magnified radiograph of the right thumb (C) better shows soft-tissue calcifications (arrow) at the radial aspect of the thumb metacarpal.

Diagnosis

Pseudohypoparathyroidism

Teaching Points

Pseudohypoparathyroidism is end-organ resistance to parathyroid hormone. The clinical findings are low serum calcium and elevated serum phosphate and parathyroid hormone concentrations.

Albright heredity osteodystrophy is also known as pseudohypoparathyroidism type 1a. It is a constellation of physical features that include obesity, short stature, brachydactyly, and ectopic ossification. There are other subtypes of pseudohypoparathyroidism.

The combined radiographic findings of short tubular bones of the hands (or feet), soft-tissue calcification and ossification, and bony exostoses are almost pathognomonic of Albright hereditary osteodystrophy.

Pseudopseudohypoparathyroidism refers to the dysmorphology of Albright hereditary osteodystrophy combined with a normal end-organ response to parathyroid hormone.

Suggested Reading

Wilson LC, Hall CM. Albright's hereditary osteodystrophy and pseudohypoparathyroidism. Semin Musculoskelet Radiol 2002; 6:273–283

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