DOI: 10.1002/ccr3.73281 ISSN: 2050-0904
A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report
Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, FNU Mahparah, Kanchan kumari, Muhammad Husnain AhmadABSTRACT
A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1. Her survival without liver failure remains atypical for Pakistan.