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World J Gastroenterol. Apr 28, 2014; 20(16): 4830-4834
Published online Apr 28, 2014. doi: 10.3748/wjg.v20.i16.4830
Published online Apr 28, 2014. doi: 10.3748/wjg.v20.i16.4830
ARC syndrome with high GGT cholestasis caused by VPS33B mutations
Jian-She Wang, Jing Zhao, Li-Ting Li, Center for Pediatric Liver Diseases, Children’s Hospital of Fudan University, Shanghai 201102, China
Jian-She Wang, Department of Pediatrics, Jinshan Hospital Fudan University, Shanghai 201508, China
Author contributions: Wang JS contributed to the patient’s medical management, supervision of the genetic study and manuscript drafting; Zhao J contributed to manuscript drafting; Li LT contributed to the performance of genetic study; all authors contributed to analysis and interpretation of data, revising the manuscript and final approval of the version ready for publication.
Supported by National Natural Science Foundation of China, No. 81070281
Correspondence to: Jian-She Wang, Professor, Department of Pediatrics, Jinshan Hospital Fudan University, Shanghai 201102, China. jshwang@shmu.edu.cn
Telephone: +86-21-64931171 Fax: +86-21-61143167
Received: November 1, 2013
Revised: February 9, 2014
Accepted: March 5, 2014
Published online: April 28, 2014
Revised: February 9, 2014
Accepted: March 5, 2014
Published online: April 28, 2014
Core Tip
Core tip: Neonatal cholestasis with low or normal gamma glutamyl transpeptidase (GGT) activity was regarded as a characteristic feature of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome. Here we describe a patient who presented with neonatal cholestasis and high GGT activities. She had all other typical clinical manifestations of ARC syndrome. The diagnosis was finally confirmed by the presence of compound heterozygosity of two known VPS33B disease-causing mutations. Our case indicates that ARC syndrome cannot be excluded in neonatal cholestasis even with unexpected high GGT activity.