*For medical professionals only
See how the experts from the Department of Neurology of Huashan Hospital analyze layer by layer to decipher the cause of dementia in a 27-year-old man!
Review
33 years old, male.
Complaints: Progressive unresponsiveness and cognitive decline for 6 years.
History of present illness:
Figure 1: Medical History
In 2019, her symptoms continued to worsen and she was admitted to our hospital.
Past good health, no history of surgery, trauma, or allergies.
Personal history: 12 years of education (graduate from technical secondary school); long-term working in Xiamen; more than 10 years of smoking history; more than 10 years of drinking history, and frequent drinking in the past 1 year To get drunk.
Family History: No family history of neurological disease; parents and 3 older sisters are healthy.
Physical Exam:
Figure 2: Physical Exam Results
Preliminary positioning, qualitative diagnosis?
Location Diagnostics:
Figure 3: Location Diagnosis
Qualitative Diagnosis:
Figure 4: Qualitative Diagnosis
Preliminary diagnosis of premature dementia based on the above tests.
What causes early-onset dementia?
According to literature reports, there are many causes of early-onset dementia, including neurodegenerative diseases and leukoencephalopathy.
Figure 5: Common causes of early-onset dementia
Clinical features of early-onset dementia
This patient has early-onset AD caused by PSEN1 mutation. There are more than 300 cases of PSEN1-related early-onset AD in the world, including 7 in China. The clinical characteristics are as follows:
Type of mutation: missense mutation, deletion mutation.
Age of onset: 30-60.5 years.
Duration: 1.41-15.9 years.
Symptoms:
Cognitive impairment: Memory impairment is predominant, and executive function, language, visuospatial, orientation, and computational abilities may also be impaired.
Non-cognitive symptoms, emotional behavioral disorders, etc.
Clinically, the age of 65 is usually used as the boundary, with late-onset disease over 65 years old and early-onset disease under 65 years old. More identification details can be found in the video.
Speaking of this, I believe that the teacher has a preliminary understanding of the etiology and clinical characteristics of early-onset dementia.