Pseudohypoparathyroidism mimicking cervical diffuse idiopathic skeletal hyperostosis with dysphagia: A case report and literature review

Netanja I Harlianto; Firdaus A A Mohamed Hoesein; Pim A de Jong; Jorrit-Jan Verlaan; Jan Westerink

doi:10.1016/j.bonr.2021.101111

Pseudohypoparathyroidism mimicking cervical diffuse idiopathic skeletal hyperostosis with dysphagia: A case report and literature review

Bone Rep. 2021 Jul 27:15:101111. doi: 10.1016/j.bonr.2021.101111. eCollection 2021 Dec.

Authors

Netanja I Harlianto^{1

2}, Firdaus A A Mohamed Hoesein², Pim A de Jong², Jorrit-Jan Verlaan¹, Jan Westerink³

Affiliations

¹ Department of Orthopedic Surgery, University Medical Centre Utrecht, Utrecht, the Netherlands.
² Department of Radiology, University Medical Centre Utrecht, Utrecht, the Netherlands.
³ Department of Vascular Medicine, University Medical Centre Utrecht, Utrecht, the Netherlands.

Abstract

Dysphagia due to extensive ossification at anterior segments of the cervical spine is a rare occurrence and is usually attributable to diffuse idiopathic skeletal hyperostosis (DISH). We present the case of a 74-year-old female with dysphagia most likely due to ossification in pseudohypoparathyroidism type 1a (PHP1a). PHP1a is a rare, autosomal dominant disorder caused by mutations in the GNAS1 gene. Our patient had characteristic phenotype features of PHP1a, also known as Albright's hereditary osteodystrophy (AHO), which was diagnosed without genetic confirmation. She was conservatively treated with dietary measures and observation, and reported persisting symptoms of dysphagia at six-month follow-up. This is the first case to describe dysphagia in PHP1a with a similar presentation to DISH.

Keywords: Case report; Diffuse idiopathic skeletal hyperostosis; Dysphagia; Osteophytes; Pseudohypoparathyroidism.

Publication types

Case Reports