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Case No. 342
2014-07-01~2014-07-31
출제자 : 안성준
Hit : 330
| Period | 2014-07-01~2014-07-31 |
|---|---|
| Diagnosis | Sturge-Weber syndrome |
| Clinical information | F/5 Rt. Side weakness, 태어날 때 Lt. facial port-wine stain. 진단은? |
| Discussion | • Neurocutaneous syndrome characterized by – Leptomeningeal angiomatosis – Ipsilateral facial nevus (port-wine) in the area of the trigeminal n. • Clinical issue – CNV1 facial port wine stain + V2 or V3 (at birth) – Seizure, hemiparesis, neurological deficit (1year) – Buphthalmos • Pathogenesis – Abnormally persistent primordial sinusoidal vascular channels • Normally regress at ~9wks (gestation), around the cephalic portion of the neural tube and ectoderm that later becomes facial skin – Cortical bridging veins fail to form remaining vein become engorged (medullary vein, subependymal vein, choroidal plexus..) – Increase the oxygen demand lead to increaed CBF (ex. Seizure) – NECT – Gyriform calcification (tram-track calcification): posterior to anterior – MR – T1WI: atrophy – T2WI: – Pseudo-acceleration of myelination d/t transient hyperperfusion – Increased SI d/t gliosis and decreased cortical signal d/t calcification – T2 GRE: Gyral calcification – T1WI C+ – Serpentine leptomeningeal enhancement (pial angiomatosis) – Engorged enhancing choroid plexus – Dilated medullary, subependymal veins (SWI is superior) – Choroidal angioma – MRS: Choline ↑ NAA↓ |
| Correct answer |
Correct Answer
Semi-Correct Answer |