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Case No. 559
2020-07-01~2020-07-31
출제자 : 차지훈
Hit : 575
| Period | 2020-07-01~2020-07-31 |
|---|---|
| Diagnosis | Fucosidosis |
| Gender |
|
| Age | 3 |
| Clinical information | M/3 developmental delay 진단은? |
| Discussion | Fucosidosis Imaging findings - Bilateral symmetric low signal intensity in both globus pallidus with dual layer appearance on SWI. Review - Autosomal recessive lysosomal storage disease - FUCA1 (1p34) mutation, deficiency of alpha-L-fucosidase - clinical findings: progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and growth retardation - Fucosidosis type I rapidly evolves toward a progressive neurologic deterioration and death. - MRI findings: extensive and progressive white matter signal alterations in the periventricular and subcortical areas, putamina, medullary lamina of the thalamus, and internal and external capsule Diffuse demyelination, neuronal loss and ballooning globus pallidus may show a high signal intensity on T1WI and a low signal intensity on T2WI Curvilinear streak between medial and lateral segment Hypothesis: calcification, iron, manganese, glycolipid |
| Correct answer |
Correct Answer
Semi-Correct Answer |