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Case No. 673
2023-11-01~2023-11-30
출제자 : 김슬기
Hit : 512
| Period | 2023-11-01~2023-11-30 |
|---|---|
| Diagnosis | Pantothenate kinase-associated neurodegeneration (PKAN, = Hallervorden-Spatz syndrome) |
| Gender |
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| Age | 34 |
| Clinical information | 34세 남자 Both hand tremor 진단은? |
| Discussion | • Subset of neurodegeneration with brain iron accumulation (NBIA) m/c : 35-50% • Histologically known as Hallervordern-Spatz syndrome • Autosomal recessive disorder caused by mutations in the PAKN2-gene • Clinical issues tends to have onset before 6 yrs old Clinical finding • Progressive dementia • Extrapyramidal signs (rigidity, dystonia, choreoathetosis) • Corticospinal signs (spasticity, hyperreflexia) • Tremor • Radiologic features CT : limited, often shows calcification of globi palladi MR : hypointense change in the globus palladi and substantia nigra • SWI/T2* : low SI in correponding areas from iron deposition • Eye of the tiger sign : central T2 high SI spot within hypo SI globus palladi (due to gliosis and vacuolization) |
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