A Patient With Rapidly Progressing Early-Onset Dementia and Insomnia

Abstract

apparent on the original visit. She came with a family member who reported sudden onset and rapid worsening of the patient's cognition with new issues of confusion and disorientation. Short-term memory was poor, but long-term memory remained intact. Mini-Mental Status Examination yielded 2 out of 3 correct for recall. Hyperhidrosis was more prominent occurring during wakefulness hours as well as during sleep.The patient's sleep-wake schedule was erratic with intermittent brief dozing day and night. Her sleep behaviors, such as dressing herself, combing her hair, and tying her shoes, were more complex. Initially dream enactment behaviors were simpler with calling out and sitting up in bed. She was unresponsive during these periods, amnestic for her actions in sleep, but awoke oriented. Despite efforts to use PAP, the patient would disassemble her interface while asleep. She reported horizontal diplopia, new-action tremor, and a 12-lb weight loss. Her pertinent vital signs were blood pressure 164/108 and heart rate 110 bpm. Comprehensive metabolic panel, thyroid function tests, urinalysis, and head computed tomography were unrevealing. Repeat PSG was attempted on continuous positive airway pressure with the patient demonstrating little sleep ( Table 1).A 51-year-old woman presented with insomnia for 2 months and daytime sleepiness for 6 months. The patient attributed the insomnia to stress from recent life events. Her Epworth Sleepiness Scale score was 18 of 24. Observers of the patient reported loud snoring, apneas, kicking, and dream enactment. The patient had hyperhidrosis during sleep.Family history was positive for hypertension and dementia. Social history excluded tobacco, alcohol, or illicit drug usage. Review of symptoms was significant for heart palpitations, headaches, and depression. The patient's medical history was negative with no medications.Physical examination revealed a blood pressure of 140/90 and body mass index of 30.3 kg/m 2 . The patient's Mallampati score was class IV. Physical examination was otherwise unremarkable. Neurological examination showed normal reflexes, gait, and intellect with good recent and remote memory recall.Diagnostic polysomnography (PSG) showed apnea-hypopnea index, 84.4 events/h; periodic limb movement index, 10.7 events/h; reduced total sleep time (140 minutes); increased stage N1 sleep; and no stage N3 or R sleep. Minimum oxygen saturation was 80%. Sleep spindles were absent.The patient refused an in-laboratory positive airway pressure (PAP) titration, and was placed on auto-adjusting PAP therapy for her severe obstructive sleep apnea.At follow-up, 8 weeks after starting auto-adjusting PAP therapy, the patient demonstrated cognitive impairment not

Can insomnia be fatal? An Australian case of fatal familial insomnia

“…Autonomic manifestations can include hyperhidrosis, hypertension, tachycardia, hyperventilation and excessive drooling. 7 FFI was first described by Lugaresi et al in an Italian family. 9 FFI is dominantly inherited and linked to a GAC to AAC point mutation at codon 178 of PRNP, D178N, that leads to a substitution of asparagine for aspartic acid (D178N).…”

“…It is important to note that disease duration is shorter in individuals who are methionine/valine heterozygous when compared with those who are methionine/methionine homozygous. 7,9 Irrespective of genotypic variants chronic sleep deprivation is amongst the most distressing symptoms of the disease. Progressive reduction in sleep spindles and K complexes with a reduction in total sleep time occurs in FFI.…”

“…FFI is a rare prion disease characterised by progressive insomnia, dysautonomia, motor disturbances, endocrine disturbances and neuropsychiatric features. Autonomic manifestations can include hyperhidrosis, hypertension, tachycardia, hyperventilation and excessive drooling 7 . FFI was first described by Lugaresi et al .…”

“…It affects both sexes equally, with typical age of onset between age 36−62 years (51 ± 7.1 years) 6 . While phenotypic variability is common, progressive change in sleep architecture is characteristic of the disease 7 . Polysomnography (PSG) classically demonstrates loss of sleep spindles and K complexes 5 .…”

“…6 While phenotypic variability is common, progressive change in sleep architecture is characteristic of the disease. 7 Polysomnography (PSG) classically demonstrates loss of sleep spindles and K complexes. 5 A decrease in total sleep time, decreased rapid eye movement (REM) sleep and loss of REM atonia are also common findings.…”