Abstract
Nasu-Hakola syndrome is a hereditary cause of pathological fractures. Uniquely, patients also develop neuropsychiatric symptoms and signs. The disease is ultimately fatal. We propose a management strategy for pathological fractures in sufferers based on the stage of the disease.
Highlights
Nasu-Hakola Syndrome (NHS) is a condition characterised by lytic lesions of the bone and an early onset frontotemporal dementia
The syndrome is of interest to orthopaedic surgeons as the overwhelming majority of patients initially present in the second and third decades of life with symptoms such as wrist and ankle pain and pathological fractures
A timely diagnosis can be achieved by conducting a detailed analysis of radiology and histology in young patients presenting with pathological fractures
Summary
Nasu-Hakola Syndrome (NHS) is a condition characterised by lytic lesions of the bone and an early onset frontotemporal dementia. The disease typically results in death by the fifth decade of life [1]. Around 200 cases of this autosomal recessive disease have been reported, and to the authors’ knowledge this is the first documented case in an individual of South Asian origin [2]. The syndrome is of interest to orthopaedic surgeons as the overwhelming majority of patients initially present in the second and third decades of life with symptoms such as wrist and ankle pain and pathological fractures. A timely diagnosis by the treating orthopaedic surgeon can result in the more effective management of this disease [3]
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