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Case No. 557
2020-06-01~2020-06-30
출제자 : 이경식
Hit : 618
| Period | 2020-06-01~2020-06-30 |
|---|---|
| Diagnosis | Joubert syndrome |
| Gender |
|
| Age | 9 |
| Clinical information | Nystagmus, atypical eye movement로 촬영한 9세 남아의 MRI. 진단은? |
| Discussion | : Vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis. MR imaging features - classic “molar tooth” appearance with foreshortened midbrain, narrow isthmus, deep interpeduncular fossa - thickened superior cerebellar peduncles surrounding an oblong or diamond-shaped fouth ventricle - Clefted superior vermis - Enlarged cisterna magna |
| Correct answer |
Correct Answer
Semi-Correct Answer |