Abstract

Study Design- Case Report
Purpose- Pseudohypoparathyroidism(PHP) is a rare endocrine condition associated with progressive heterotopic hyperplasia. A case of PHP involving eyelid and orbit causing severe ptosis is discussed.
Method- A 4-year-old male presented with mild drooping of left upper eyelid. Ultrasonography revealed calcification in the ocular coats. NCCT revealed multifocal ossification in the left scalp, orbit and eyelid region. Blood investigations revealed increased phosphorus and iPTH. A provisional diagnosis of PHP was made. Genomic sequencing revealed a variant in exon 1 of the GNAS gene, confirming GNAS related PHP. Patient was lost to follow up and presented 8 years later with severe ptosis.
Result- The patient was advised debulking of left upper eyelid with ptosis correction surgery.
Conclusion- To the best of our knowledge, there is only one case reported in literature with eyelid involvement in PHP. The progression to severe ptosis necessitated ptosis surgery.