Objective To investigate the clinicopathological characteristics, progress, diagnosis, and treatment of Nasu-Hakola disease (NHD), a rare fatal progressive and intractable autosomal recessive hereditary disease. Methods One case of NHD was retrospectively analyzed. Combined with other cases which were reported previously, the clinicopathological characteristics, diagnosis, differential diagnosis, treatment, and prognosis of this disease were reviewed. Results A 38-year-old male NHD patient presented with initial symptoms of cerebral infarction accompanied with sequelae. At 39 years old, he was found to have a simple bone cyst and pathological fracture in the left humerus, without any abnormality in the right humerus. Internal fixation with bone graft was performed for the removal of the lesion of the pathological fracture of the left humerus. Two months later, a new simple bone cyst was found in the right humerus, showing the progressive exacerbation situation of the imbalance of bone remodeling ability. Zoledronic acid was used to inhibit bone resorption to an attempt to slow this process down. During the follow-up of 17 months, bone cyst in the right humerus enlarged progressively, and new low-density spots were found in the left humerus. Zoledronic acid did not prevent stop the development of the bone cysts. Conclusion Pathological fractures in stage 2 and 3 of NHD should be treated aggressively. Surgical treatment for fractures improves the patients,living quality to some extent. However, in stage 4, due to the high risk of surgery, conservative treatment is recommended. Valproate can be used to treat patients with frontal lobar symptoms. Fetus with a family history of NHD should undergo genetic testing to prevent the fetus and its family from being plunged into painful and hopeless situations in the future. |