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Case No. 341
2014-07-01~2014-07-31
출제자 : 안성준
Hit : 321
| Period | 2014-07-01~2014-07-31 |
|---|---|
| Diagnosis | Mucopolysaccharidosis(MPS) |
| Clinical information | M/1 Delayed development and macrocephaly 진단은? |
| Discussion | • Inherited metabolic disorder – Enzyme deficiency and inability to break down glycosaminoglycan – Accumulation of toxic intracellular substrate – AR fashion • Clinical manifestation – Musculoskeletal system • Skull : Macrocephaly, J-shaped sella, frontal bossing. • Spine : Platyspondyly, anterior beaking , posterior scalloping, narrowed spinal canal, AAD (atlantoaxial dislocation), kyphosis, scoliosis, Gibbus formation – Brain and spinal cord • Brain : Prominent perivascular spaces, hydrocephalus, gliosis or demyelination or dysmyelination • Spinal cord : Myelopathy and syringomyelia. |
| Correct answer |
Correct Answer
Semi-Correct Answer |