Pallister-Hall syndrome diagnosed in a young man after an acute adrenal crisis

Anis Grassa; Meriem Yazidi; Jihene Marrakchi; Chaima Bel Hadj Sliman; Ibtissem Oueslati; Melika Chihaoui

doi:10.1002/ccr3.6249

Pallister-Hall syndrome diagnosed in a young man after an acute adrenal crisis

Clin Case Rep. 2022 Aug 22;10(8):e6249. doi: 10.1002/ccr3.6249. eCollection 2022 Aug.

Authors

Anis Grassa¹, Meriem Yazidi¹, Jihene Marrakchi², Chaima Bel Hadj Sliman¹, Ibtissem Oueslati¹, Melika Chihaoui¹

Affiliations

¹ Endocrinology Department, Faculty of Medicine of Tunis, La Rabta Hospital University of Tunis el Manar Tunis Tunisia.
² Otolaryngology Department, Faculty of Medicine of Tunis, La Rabta Hospital University of Tunis el Manar Tunis Tunisia.

Abstract

Pallister-Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of an 18-year-old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency.

Keywords: Pallister–Hall syndrome; adrenal insufficiency; hamartoma; hypopituitarism.

Publication types

Case Reports