Bilateral Transcervical Femur Neck Fracture in a Case of Pseudohypoparathyroidism: A Rare Case Report and Review of Literature

INTRODUCTION: Pseudohypoparathyroidism (PHP) is an uncommon metabolic bone disorder characterized by biochemical hypocalcemia, hyperphosphatemia and raised parathyroid hormone (PTH), and target tissue unresponsiveness to the biological actions of PTH. In addition, many patients with PHP exhibit a distinctive constellation of developmental and skeletal defects. CASE REPORT: An 11-year-old girl was brought to emergency pediatric department for the assessment of fever with generalized tonic-clonic seizure (GTCS) with inability to walk. She had hypocalcemia and hyperphosphatemia. The diagnosis of PHP was made and was started on Vitamin D3 and oral calcium. Physical examination revealed no dysmorphic features. Biochemical investigations revealed normal complete blood count, liver and renal functions, and arterial blood gas. However, serum PTH was high with slightly decreased Vitamin D3. CONCLUSION: As per our knowledge, this is the first reported case in literature of bilateral pathological transcervical neck femur fracture in a case of PHP following episode of GTCS. Multidisciplinary team approach with the involvement of pediatrician, endocrinologist, and orthopedic surgeon and devising a plan after thorough workup keeping in mind the infrequent presentations of hypoparathyroidism and adequate pre-operative optimization helps provide appropriate management of this rare presentation. This case report was prepared following the CARE guidelines.