Endocrine Abstracts

JOINT2210

Introduction: Autosomal recessive genetic osteolysis disorders include Multicentric osteolysis nodulosis arthropathy (MONA), Winchester syndrome, Torg syndrome, infantile systemic hyalinosis and mandibulo-acral dysplasia. Winchester syndrome (WS), first described in 1969, is a rare disorder characterized by short stature, coarse facial features, corneal opacities, generalized osteolysis, progressive JOINT destruction, osteoporosis and debilitating painful arthropathy. It is due to a missense mutation in MMP14, encoding the membrane-bound matrix metalloprotease 14. Due to the rarity of WS, evidence-based guidelines for managing osteoporosis in pediatric osteolytic syndromes are not well defined. Here we present the case of a 2-year-old girl with clinical and radiological features suggestive of likely Winchester syndrome managed with intravenous bisphosphonate for osteoporosis and immunomodulation for inflammatory arthritis. Case: The patient, first child of consanguineous parents presented to our center for evaluation of a probable osteoporotic fracture of the left ulna diaphysis after the parents observed left wrist swelling. She had an uneventful antenatal and postnatal history and developmental milestones included delayed walking and speech delay. Chronic bilateral hand and finger swelling with pain upon tactile pressure was reported since infancy. On physical examination the anterior fontanelle was open, normal sclera and dentition, fingers of both hands had flexion deformities. Investigation revealed a normal biochemical bone profile. Radiographic findings included severe carpotarsal and phalangeal osteolysis, diffuse osteopenia with near total loss of mineralization of the scaphoid, lunate, triquetrum and pisiform bones. Thoracolumbar spine imaging revealed collapse of the T6 vertebral body. MRI of the bilateral wrists showed advanced osteolysis with necrosis like infarcts in the left wrist, synovitis, tenosynovitis and JOINT effusion indicating ongoing inflammation in the right wrist. Initial management with analgesia was minimally effective in reducing the bone pain. In view of the vertebral collapse, she was given a dose of intravenous Zoledronic acid followed by second dose 6 months later. Immunomodulation with Adalimumab was initiated for coexisting arthritis and tenosynovitis leading to decreased hand pain. She has not developed further fractures after 2 doses of Zoledronic acid. The provisional diagnosis of WS in this case was based on characteristic osteolysis, osteoporosis and arthropathy with differential diagnoses including MONA and Torg syndrome. Whole exome sequencing has been done for the child and the parents and results are awaited. This case underscores the challenges of managing osteoporosis in rare osteolytic syndromes. It highlights the importance of multidisciplinary care and need for genetic confirmation for a definitive diagnosis.