Ezgu F, Eminoglu T, Okur I, Gunduz M, Tumer L, Hasanoglu A, Dalgic B
Gazi University Faculty of Medicine, Department of Pediatric Metabolism, Division of Genetics and Molecular Diagnosis, Ankara, Turkey.
Genet Couns. 2011;22(2):217-20.
Zellweger syndrome is a peroxisomal disorder resulting from the mutations in PEX genes generally presenting in the neonatal period with profound hypotonia seizures, inability to feed, liver cysts with hepatic dysfunction, chondrodysplasia punctata. Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short stature. Abnormal liver functions and some atypical findings were also reported in some patients with Kabuki syndrome. In this report a case with late onset Zellweger syndrome who had some phenotypical findings which are also seen in Kabuki Syndrome will be presented. The inclusion of Zellweger syndrome into the differential diagnosis of the patients with Kabuki-like phenotype in addition to abnormal liver functions is emphasized.
脑肝肾综合征是一种过氧化物酶体疾病，由PEX基因突变引起，通常在新生儿期出现，伴有严重的肌张力减退、癫痫发作、无法进食、伴有肝功能障碍的肝囊肿、点状软骨发育不良。歌舞伎综合征是一种多先天性异常和智力障碍综合征，具有特征性面容、骨骼异常、皮纹异常、智力障碍和身材矮小。一些歌舞伎综合征患者也报告有肝功能异常和一些非典型表现。在本报告中，将介绍一例迟发性脑肝肾综合征病例，该病例具有一些在歌舞伎综合征中也可见的表型特征。强调除肝功能异常外，在具有歌舞伎样表型的患者鉴别诊断中应考虑脑肝肾综合征。
