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Case No. 288
2012-12-01~2012-12-31
출제자 : 설유리
Hit : 425
| Period | 2012-12-01~2012-12-31 |
|---|---|
| Diagnosis | Lowe syndrome |
| Clinical information | M/12 C.C: Seizure P/Hx Cataract (on 100th day) Developmental delay Short stature Nephrotic syndrome Rickets |
| Discussion | Eye + CNS + Kidney = Oculocerebrorenal syndrome X-linked recessive inheritance Oculocerebrorenal-Lowe protein (OCRL1), isolated in 1992, linked to the Xq24–q26 region of the X chromosome Rarely females are affected, very rare (est. 1 in 500,000) Life span < 40 yrs MRI Two patterns of lesions Hyperintensity on T2-weighted images in periventricular white matter and centrum semiovale Periventricular cystic lesions(perivascular lacunes) |
| Correct answer |
Correct Answer
Semi-Correct Answer |