Kristjansson K, Finegold M J, Pentchev P G, Belmont J W
Department of Pediatrics, St. Joseph's Hospital, Reykjavík, Iceland.
Eur J Pediatr. 1994 May;153(5):347-51. doi: 10.1007/BF01956417.
Niemann-Pick disease type C (NPC) presents in about half of the cases in the newborn period with jaundice, hepato-splenomegaly, and a clinical pattern similar to neonatal hepatitis. The definitive diagnosis can in most instances be made by the appropriate biochemical testing of lipoprotein stimulated cholesteryl ester synthesis and cholesterol accumulation in cultured patient fibroblasts. We report two infants who by liver biopsy had classical findings of NPC and a cholesteryl ester synthesis level about 50% of the normal lower limit. On the other hand neither of these patients' fibroblasts showed any evidence of low density lipoprotein-induced cholesterol accumulation, precluding the possibility of a definitive diagnosis. These cases demonstrate the importance of the appropriate biochemical testing before final counseling is carried out. The possibility of our patients representing allelic or non-allelic variants of NPC are discussed.
尼曼-匹克病C型（NPC）约半数病例在新生儿期发病，表现为黄疸、肝脾肿大，临床症状与新生儿肝炎相似。在大多数情况下，通过对培养的患者成纤维细胞进行脂蛋白刺激的胆固醇酯合成及胆固醇蓄积的适当生化检测，可做出明确诊断。我们报告了两名婴儿，经肝活检有NPC的典型表现，胆固醇酯合成水平约为正常下限的50%。另一方面，这两名患者的成纤维细胞均未显示出低密度脂蛋白诱导的胆固醇蓄积迹象，排除了明确诊断的可能性。这些病例表明在进行最终咨询前进行适当生化检测的重要性。文中还讨论了我们的患者代表NPC等位基因或非等位基因变异体的可能性。
