| Zellweger Syndrome : First Confirmed Neonatal Case in Korea |
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Sung Sin Kim1, Yun Hwa An1, Yun Sil Chang1, Dong Kyu Jin1, Won Soon Park1, Moon Hang Lee1, Jong Won Kim2, Hye Kyoung Yoon3, Bo Kyoung Kim3 |
1Department of Pediatrics, Sungkyunkwan University, Samsung Medical Center, Seoul, Korea
2Department of Clinical Pathology, College of Medicine, Sungkyunkwan University, Samsung Medical Center, Seoul, Korea
3Department of Radiology, College of Medicine, Sungkyunkwan University, Samsung Medical Center, Seoul, Korea |
| 신생아기에 확진된 Zellweger 증후군 1례 |
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김성신1, 안연화1, 장윤실1, 진동규1, 박원순1, 이문향1, 김종원2, 윤혜경3, 김보경3 |
1성균관의대 삼성서울병원 소아과
2성균관의대 삼성서울병원 임상병리과
3성균관의대 삼성서울병원 영상의학과 |
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| Abstract |
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We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study of plasma revealed elevation of very long chains of fatty acids and pipecolic acid, consistent with peroxisomal disorder. The cultured skin fibroblasts showed a marked decrease in plasmalogen synthesis enzyme : dihydroxyacetonephosphate acyl transferase(DHAP-AT) The clinical characteristics and biochemical findings led to the diagnosis of Zellweger syndrome. The pattern of inheritance is autosomal recessive, hence genetic counseling can help the families. In infantile hypotonia patients with unknown cause, peroxisomal disorder should be included in the differential diagnosis. We report the first confirmed case of Zellweger syndrome by enzyme assay in Korea. |
| Key Words:
Zellweger syndrome, Neonate, Enzyme assay, Fibroblasts, Cell culture |
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