Gower sign positive muscle weakness in a patient with short stature and hypophosphatemia

Abstract

A 17-year-old Sudanese patient presented with short stature, generalized body aches, and proximal muscle weakness. He was seen by two orthopedic surgeons and an adult neurologist and misdiagnosed as having benign bone cysts, osteomalacia and Duchenne muscular dystrophy. In
fact, he was suffering from severe hypophosphatemia, which manifest by unusual presentation. The diagnostic pitfalls are explained and the importance of urinalysis and measurement of bone minerals are emphasized.

Keywords: Renal tubular acidosis, Fanconi syndrome, Rickets.