Case 31 – Siblings with a Fatal Cause of Rapidly Progressive Dementia

Abstract

A 62-year-old male (Patient 1) was admitted to the Capital Medical University Hospital, in Beijing, China, because of a 3-month history of progressive cognitive impairment and abnormal behaviors including performing motor gestures and talking to himself incoherently. During the first evaluation, it was reported that the patient had insomnia as an early clinical manifestation accompanied by intense dreams and sleep talking. During the 14 days of hospitalization, the patient showed intractable insomnia, progressive cognitive deterioration, mental confusion, visual and auditory hallucinations, and paranoia. Twelve months after the onset of the symptoms, the patient returned to the hospital awake but unresponsive and died due to breathing difficulties.

Case 31 Siblings with a Fatal Cause of Rapidly Progressive Dementia

Tharick A. Pascoal , Mira Chamoun , Sara Mohades , Monica Shin , Liyong Wu , Serge Gauthier , and Pedro Rosa-Neto

31.1 Case Histories

The patient’s younger sister, a 60-year-old woman (Patient 2) with no education, was assessed after the first hospitalization of her brother. She reported a 5-month history of cognitive and mental symptoms accompanied by sleep disturbance for 2 months. The patient’s first symptoms included panic attacks, fatigue during daytime, apathy, disinterests in work, and lack of engagement in conversation with friends and family members. Two months later, the patient showed difficulties in falling asleep at night, limb movements during sleep, diurnal somnolence, and oneiric behaviors. In the subsequent months, despite the use of many different sleep inductors, her insomnia continued to worsen, and her symptoms evolved to severe hallucinations, impaired memory, incoherent speech, unsteady gaits, changes in voice, and increased sweating. She was never hospitalized and passed away at home with a symptom described as a severe dyspnea.

31.2 Medical History

Both siblings had no relevant previous medical history.

31.3 Family History

The patients’ mother and an older brother had similar symptoms with rapidly progressive dementia and death.

31.4 First Clinical Assessment

(Patient 1): A heart rate of 105 beats/min, BP of 160/100 mmHg, cranial nerves normal, muscle strength and tension normal, reflexes normal and symmetric, Babinski negative, and scored 4 points in Mini–Mental State Examination (MMSE). Additionally, the patient showed anisocoria with impaired direct and consensual pupillary light reflexes of the left eye.

(Patient 2): A heart rate of 108 beats/min, BP of 160/90 mmHg, normal cranial nerves, normal muscle strength and tone, reflexes normal and symmetric, Babinski negative, scored 4 points in the MMSE and 3 points in the clinical dementia rating scale.

31.5 Additional Assessments

The patients underwent a lumbar puncture, an electroencephalogram, a polysomnography (PSG), neuroimaging, and genetic assessments.

31.5.1 Cerebrospinal Fluid

(Patient 1): A cerebrospinal fluid pressure of 150 mm H₂O (normal value, 100–180), sugar of 80 mg/dL (normal value, 45–80), chloride of 109 mmol/L (normal value, 118–128), protein of 16 mg/dL (normal, 15–45), white blood cells of 0 mm³ (normal, 0), and 14-3-3 protein negative.

(Patient 2): A cerebrospinal fluid pressure of 150 mm H₂O, sugar of 74 mg/dL, chloride of 107 mmol/L, protein of 26 mg/dL, white blood cells of 0 mm³, and 14-3-3 protein negative.