| Two Cases of Pelizaeus-Merzbacher Disease |
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Ho Seok Kang1, Se Wook Oh1, Yong Won Park1, Chong Guk Lee1, Sang Woo Kim1, Ghi Jai Lee2 |
1Department of Pediatrics, Seoul Paik Hospital, Inje University, Seoul, Korea
2Department of Diagnostic Radiology, Seoul Paik Hospital, Inje University, Seoul, Korea |
| Pelizaeus-Merzbacher 병 2례 |
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강호석1, 오세욱1, 박용원1, 이종국1, 김상우1, 이기재2 |
1인제대학교 의과대학 서울백병원 소아과
2인제대학교 의과대학 서울백병원 진단방사선과 |
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| Abstract |
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Pelizaeus-Merzbacher disease(PMD) is a rare sudanophilic leukodystrophy with a reduced number of mature oligodendrocytes as well as diffuse central nervous system hypomyelination(dysmyelination) due to abnormal synthesis of proteolipid protein. PMD is characterized with pendular nystagmus, stridor, delay in psychomotor development, hypotonia, ataxia, athetosis and extrapyramidal signs. Abnormal high signal intensity is shown in the entire white matter of cerebrum and cerebellum at early stage by T2-weighted magnetic resonance imaging(MRI). We report two cases of PMD diagnosed with characteristic clinical manifestations and brain MRI findings. |
| Key Words:
Pelizaeus-Merzbacher disease, Dysmyelination, Nystagmus |
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