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Agranular Platelets as a Cardinal Feature of ARC Syndrome

Kim, Seong Min MD*; Chang, Hye Kyung MD; Song, Jae Woo MD; Koh, Hong MD§; Han, Seok Joo MDSeverance Pediatric Liver Disease Research Group

Journal of Pediatric Hematology/Oncology: May 2010 - Volume 32 - Issue 4 - p 253-258
doi: 10.1097/MPH.0b013e3181c3a8d0
Original Articles

We aimed to describe abnormal platelet morphology and its clinical significance in infants who were diagnosed with arthrogryposis renal dysfunction and cholestasis (ARC) syndrome. We collected all of the cases of ARC syndrome referred to a single pediatric referral center. In all patients, platelet counts and analysis of platelet morphology were performed with peripheral blood smear specimens. Electron microscopy images were obtained to examine the ultrastructure of the platelets. Over the 12-year period, 12 cases of ARC syndrome were identified. The sex ratio (male:female) was 1:1. The median birth weight was 3.15 kg (range, 2.3 to 3.8 kg). Failure to thrive was observed in all the patients. The major cause of death was recurrent febrile illness and pneumonia. The median age at death was 8.9 months (range, 2.6 to 28.8 kg). Their median body weight at death was 3.1 kg (range, 2.6 to 6.0 kg). Close examination of their peripheral blood smear (n=11) specimens showed large, pale, agranular platelets similar to those seen in gray platelet syndrome. Electron microscopic images of the platelets (n=7) revealed a lack of α; granules. Agranular platelets are a common finding in ARC syndrome. Agranular platelets should be considered as a cardinal feature of ARC syndrome and can be useful as a noninvasive diagnostic marker for ARC syndrome.

*Department of Surgery, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin

Departments of Pediatric Surgery

§Pediatric Gastroenterology, Hepatology, and Nutrition, Severance Children's Hospital

Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea

Reprints: Seok Joo Han, MD, Department of Pediatric Surgery, Severance Children's Hospital, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea (e-mail address:

Received for publication August 24, 2009; accepted September 28, 2009

© 2010 Lippincott Williams & Wilkins, Inc.