FI is a rare human prion disease with prominent sleep disturbance, autonomic, motor, cognitive and behavioural involvement. We believe that all patients with FFI and hypersomnia should be screened for hyponatremia. FFI is caused by an autosomal dominant and highly penetrant pathogenic Prion Protein gene PRNP Although usually familial, fatal insomnia (FI) also occurs in a rare sporadic form. The patient resumed intellectual and leisure activities, and an active social life, drinking freely.Ĭonclusions: Our patient, diagnosed with the Hypersomnia form of FFI, presented resolution of hypersomnia and other symptoms following treatment of her SIADH-induced hyponatremia with tolvaptan, permitting a normal lifestyle anew. Eunatremia was accompanied by resolution of patients hypersomnia, bradypsychia, with mood improvement, and normal gait. Tolvaptan was initiated, attaining/maintaining eunatremia (SNa 137) with 60 mg/day. Normal renal, adrenal, hepatic, thyroid tests. SNa: 129 mmol/l, urine sodium:135 mmol/l, plasma osmolality(Osm):269 mOsm/kg, urine osm:490 mOsm/kg. Physical examination: euvolemia, bradypsychia, altered gait, and hyperreflexia. Family history: one sister and three first-degree cousins had died with the diagnosis of FFI. Previously diagnosed of depression, she had been on Trazadone and benzodiazepìnes for 2 years, without prior hyponatremia. She presented an altered gait, and mood swings. Neurological diagnosis was: FFI (D-178-N mutation with methioninemethionine polymorhphism in codon 129) with hypersomnia (present in up to 50% of cases). In June she started presenting severe diurnal hypersomnia that interfered with her normal activites. The patient started with nocturnal insomnia in March 2013. SIADH has been described in two affected patients.Ĭase Study: A 70-year-old woman was referred to Endocrinology in July 2013 for the study of hyponatremia, following detection of a serum sodium level (SNa) of 124 mmol/l three weeks earlier, that did not respond to poorly-tolerated fluid restriction. Affected individuals present a disorderd sleep-wake cycle, dysautonomia and motor signs, with a predominance of lesions in the thalamus. The latter, FFI, is caused by a mutation in the human prion protein gene on chromosome 20. Presentation can be sporadic or hereditary (autonomal dominant). Jesse Mindel, MD, is an assistant clinical professor at The Ohio State University Wexner Medical Center who specializes in Neurology and Sleep Medicine.Introduction: Fatal insomnia is a neurodegenerative spongiform prion disease. It's considered transmissible in vitro, but there haven’t been any human cases. Some, ultimately, are diagnosed after having a brain biopsy or through an autopsy after they die.įatal insomnia is typically a genetic condition and very rarely due to a sporadic mutation. Some patients can be diagnosed with spinal fluid studies, others can be diagnosed with clinical signs and imaging findings. As the disease progresses, a person will experience behavioral and personality changes, abnormal body movements, vision changes, difficulty walking and maintaining consciousness.įatal insomnia is difficult to diagnose initially. Other symptoms include high blood pressure, excess sweating, and difficulty controlling body temperature. The most common symptoms are sleep disturbance, psychiatric problems, weight loss, and balance problems. Initially, a person might have mixed symptoms of daytime fatigue and sleepiness and the inability to fall asleep and stay asleep. Fatal familial insomnia (FFI) affects the thalamus, the part of the brain that controls the sleep-wake cycle. It’s closely related to Creutzfeldt-Jakob disease (CJD) but with the loss of nerve cells is distributed differently with different initial symptoms. The age at onset is unpredictable but on average around 50 years of age.įatal insomnia causes the rapid progressive loss of nerve cells with the earliest symptom being insomnia. FFI is considered autosomal dominant, which means that if you inherit the gene you’re very likely to develop the disease at some point in time. Prion diseases are rare progressive, fatal and currently untreatable degenerative disorders of the brain (and rarely of other organs) that occur when a protein changes into an abnormal form called prion.įatal Familial Insomnia (FFI) is more common than sporadic cases. Eventually, the disorder will affect the whole brain it just involves the part that controls sleep-wake earlier than other prions. Not all cases of fatal insomnia are inherited, though. The disorder affects the part of the brain that controls the sleep-wake cycle. Fatal insomnia is an extremely rare sleep disorder disease that’s caused by either an inherited (familial) or spontaneous (sporadic) mutation in the prion protein gene.
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