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

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.