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Introduction The FFI is a rare prion disease, originated by the mutation D178N in the PRNP gene. It has an autosomal dominant inheritance pattern. Patients characteristically develop progressive insomnia with loss of the normal circadian sleep-activity pattern, inattention, impaired concentration and memory, confusion, hallucinations, motor disturbances (hyperreflexia, dysarthria, myoclonus, ataxia, spasticity), signs of autonomic hyperactivity (increased sweating, tearing, salivation, mild nocturnal hyperthermia, tachycardia, and hypertension). We expose three cases of patients who died with FFI in our hospital. Materials and methods We reviewed the medical records of three patients with molecular diagnostic of FFI who died in our hospital, comparing the clinical aspect, polysomnographic patterns and pathologic findings. Results Clinical characteristics were very similar; patients developed insomnia as a prominent and early complaint, associated with excessive daytime sleepiness, ataxia, diplopia, progressive dysphagia, myoclonus, autonomic hyperactivity, confusion and disorientation. Sleep studies showed significant reduction in total sleep time, disorganization of the structure of sleep, decreased sleep efficiency, reduced slow wave sleep, decrease in the number of spindles and K complexes and presence of irregular, choreiform or stereotypic movements. One patient did not reach REM sleep and showed a slow wave sleep ratio of 72.5%. The pathologic alterations in the patients showed severe atrophy with significant neuronal loss in dorsomedial, and pulvinar thalamic nuclei, reactive astrocytosis, gliosis and vacuolation of the neuropil, more intensely in the mid brain, cerebellum (cortex, vermis and dentate nucleus), striatum and hippocampus. Conclusion The patients with FFI may exhibit a variety of symptoms and signs. The patients described shared many of the clinical and pathological findings. One patient presented a polysomnographic pattern with a ratio of slow wave sleep 72.5%, rare in the FFI. Acknowledgements All the people that made possible this study. |
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