X-linked hypophosphatemic osteomalacia with PHEX mutation presenting late in Pakistan

ABSTRACT.INTRODUCTION.AND.IMPORTANCE: Autosomal dominant hypophosphatemic rickets is the most common form of rare rickets, commonly manifests in children but sometimes the condition remains undiagnosed due to lack of knowledge &/or awareness of treating physicians or surgeons. CASE PRESENTATION: We describe a case of 43 years old female with multiple fragility fractures since childhood, corrected surgically but never investigated. She had stunted growth, bowing deformities and loss of teeth. CLINICAL DISCUSSION: A detailed history and examination along with metabolic and genetic work up mounted the diagnosis of X linked hypophosphatemic osteomalacia. The pathophysiology involves the mutation or the loss of the phosphate regulating gene on PHEX, that causes reduced mineralization of bones and teeth. CONCLUSION: Diagnostic delay in this patient resulted in increased disabilities affecting her mobility and lif estyle.