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종결 Case No. 422 2016-10-01~2016-10-31
출제자 : 차지훈 Hit : 387
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Period 2016-10-01~2016-10-31
Diagnosis Huntington disease
Clinical information F/62
C.C> gait disturbance
Discussion Imaging findings
- Atrophy of the head of the caudate nucleus
- Atrophy of putamen, iron deposition
- Diffuse brain atrophy

Review
- Autosomal dominant neurodegenerative disease
 CAG trinucleotide repeat disease (chromosome 4p16.3)
 Huntington protein accumulate in nucleus and cytoplasm
 Loss of GABAergic neurons of basal ganglia
 5-10/100,000 people, less common in Asian
- Classic triad
 Early onset dementia, choreoathetosis, psychosis
- Imaging
 Diffuse cerebral atrophy
 Atrophy of caudate nucleus, frontal horns enlarged, increased intercaudate distance, loss of convex surface of caudate head
 Decreased volume of basal ganglia, iron deposition
 T2 hyperintensity in caudate nucleus, putamen in juvenile HD
Correct answer

Correct Answer

  • 권용원 건국대학교병원

Semi-Correct Answer

  • 권혜영 이화여대 목동병원
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