ObjectiveTo explore clinical, histopathological and genetic features in a case of fatal familial insomnia (FFI) and related literatures were reviewed. MethodsThe clinical features in one patient with FFI were analyzed, and the dead patient was examined at autopsy and histopathological studies were performed on the brain tissues; and the blood samples from the patient and some of her familial members were collected for the sequencing of prion protein gene (PRNP). ResultsThe main clinical features included intractable insomnia, psychiatric symptoms and abnormal night sleep behavior, unsteady gait, difficulty swallowing, sudden death, and positive family history. The pathological studies showed multiple neuronal loss and gliosis of brain tissues from the proband, predominated in thalamus; and analysis of PRNP revealed gene D178N mutation, and linkage with 129 methionine (Met) allele in the proband and a relative. ConclusionsFFI patients may manifest as sudden death, and may have prominent psychiatric symptoms; the corresponding gene mutation could occur in the asymptomatic carriers; the data of autopsy and brain tissue pathology is helpful for further understanding of this disease.
