Severe bruxism in a patient suffering Nasu-Hakola disease for ten years

Abstract

Introduction CLINICAL HISTORY: 42 year old woman with no previous medical condition of any interest. For the last ten years she has been suffering a mental deterioration of a frontal sub cortical subtype, spasticity, hyperreflexia, bradikinesia and a parkinsonian gait which has become progressively worse over time. Multiple bone cysts have also developed with the final diagnosis being Nasu-Hakola disease. Materials and methods Four years ago, during a check up in the outpatient clinic, she had a seizure event which was finally diagnosed as a generalized epileptic associated disease and treatment with carbamazepine and levetiracetam was initiated. Periodic EEG studies show a generalized deterioration which is more notable as the disease progresses and a multifocal irritation which was limited to the posterior areas after the antiepileptic treatment. Within the last year a severe bruxism (not only sleep related) has been identified in a videoEEG study. Results Periodic EEG studies show a generalized deterioration which is more notable as the disease progresses and a multifocal irritation which was limited to the posterior. Conclusion Nasu-Hakola disease is an autosomal recessive inherited disorder (TREM2 and DAP12 gen mutation) characterized by progressive dementia and bone simptomatology with pathological fractures without pain. It has an evolution which includes personality changes, progressive amnesia, apraxia, agnosia, acalculia and disorientation. Some patients exhibit urinary or stool incontinence, convulsive attacks and pyramidal signs as with our patient. The sleep related bruxism is characterized by involuntary masticator muscle activities during sleep and is classified under somatoform disorders in the ICD-10. In the past two decades, it has been shown that it is a phenomenon regulated more within the central nervous system than peripherally with alteration in diverse neurotransmitters (serotonin and dopamine). There has been no clear relationship between Nasu-Hakola disease and bruxism. However, due to the possible central origin of sleep related bruxism, we consider this relationship a possible other condition of the Nasu-Hakola disease. Acknowledgements Nasu-Hakola disease: The first case reported by Nasu and review. Minoru Kaneko, et al. Neuropathology 2010;30,463–70. Association of genetic, psychological and behavioral factor with sleep bruxism in a Japanese population. Yuka Abe, et al. J. Sleep Res 2012;21,289–96. Genetic factors account for half of the phenotypic variance in liability to sleep-related bruxism in young adults: A nationwide finnish twin cohort study. Katariina Rintakoski, et al. Twin Research and Human Genetic 2012; 15(6),714–19. Genetic factors account for half of the phenotypic variance in liability to sleep-related bruxism in.