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Case No. 290
2013-01-01~2013-01-31
출제자 : 황승배
Hit : 414
| Period | 2013-01-01~2013-01-31 |
|---|---|
| Diagnosis | Maple syrup urine disease (MSUD) |
| Clinical information | 3개월 여아 C/C : seizure |
| Discussion | 사진설명 : DWI영상에서 both cerebellar white matter, middle cerebellar peduncle, pons, midbrain, cerebral peduncle, internal capsule, globus pallidus, splenium of corpus callosum, periventricular white matter부위에 diffuse high signal intensity를 보이고 ADC가 감소되어 있는 cytotoxic edema소견이 관찰됨. T2WI에서는 subtle한 signal증가가 관찰됨. : 사진상 포함되지 않았으나 FLAIR영상에서는 signal변화 관찰되지 않으며 조영증강이나 hemorrhage소견 동반되어 있지 않음. Maple syrup urine disease Inheritd disorder of branched chain amino acid metabolism Decreased activity branched chain α-keto acid dehydrogenase complex (BCKD) -> accumulation of branched chain L-amino (BCAA) and metabolites (neurotoxic and Presenting in newborns with neurologic deterioration, ketoacidosis, and hyperammonemia 2 forms Classic type ; disease usually presents in the first weeks of life with metabolic crisis Intermittent or intermediate form ; milder form, occurs later in infancy or in early childhood Location ; cerebellar white matter, brainstem, thalamus, globus pallidus, cerebral peduncle, pyramidal and tegmental tract, periventricular white matter, centrum semiovale ; cerebellar and brainstem edema >> supratentorial edema Imaging findings ; CT – diffuse edema ; MR DWI - most sensitive method - marked restriction (hyperintensity on DWI with low ADC) ; MSUD edema = cytotoxic/intramyelinic FLAIR – insensitive to fluid shifts in newborns MR spectroscopy – broad peak at chemical shift of 0.9 ppm |
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