A fatal familial insomnia patient newly diagnosed as having depression: A case report

• Published in: Medicine (Baltimore) Vol. 100; no. 41; p. e27544
• Main Authors: Yukang, Tan, Jiaquan, Liang, Xiaoling, Li, Yiliang, Liu, Guohong, Xu, Caixia, Xu, Guojun, Xie
• Format: Journal Article
• Language: English
• Published: United States Lippincott Williams & Wilkins 15-10-2021
• Subjects: Adult; Brain - diagnostic imaging; Brain - pathology; Clinical Case Report; Dementia - diagnosis; Dementia - etiology; Depression - diagnosis; Diagnosis, Differential; Disease Progression; Dyskinesias - diagnosis; Dyskinesias - etiology; Humans; Insomnia, Fatal Familial - diagnosis; Insomnia, Fatal Familial - genetics; Insomnia, Fatal Familial - psychology; Magnetic Resonance Imaging - methods; Male; Middle Aged; Mutation; Pedigree; Polysomnography - methods; Prion Proteins - analysis; Prion Proteins - genetics; Respiratory Sounds - diagnosis; Respiratory Sounds - etiology; Sleep Initiation and Maintenance Disorders - diagnosis; Sleep Initiation and Maintenance Disorders - etiology
• ISSN: 0025-7974; 1536-5964
• DOI: 10.1097/MD.0000000000027544

Fatal familial insomnia (FFI) is a rare clinical case. The study was mainly to report the clinical symptoms and imaging and genetic characteristics of a FFI case with depression, with relevant literature summarized.
A male, aged 57 years old, with mental disorders and progressive memory decline one year before admission.
Clinical manifestations: he had obvious abnormal mental behavior, rapidly progressing dementia symptoms, stubborn insomnia, abnormal movements and laryngeal stridor after falling asleep at night. Imaging and genetic test results: the cranial magnetic resonance imaging showed frontal temporal lobe atrophy; the polysomnography results showed no effective sleep; the 14-3-3 test result of cerebrospinal fluid was negative; the prion protein (PRNP) test showed that the D178N gene locus had mutations. And the patient was finally diagnosed as FFI.
There were no obvious effects in the treatment using medicines such as Risperidone, Olanzapine, Alprazolam, Clonazepam, and Deanxit.
Mobility dysfunction of the patient was further aggravated. He was no longer able to move around on his own, and there were serious mental disorders.
PRNP examination is of guiding significance for the diagnosis of the FFI of depression. Hence, it is very necessary to perform PRNP examination in clinical diagnosis of FFI of depression.