All issues > Volume 46(8); 2003

Case Report

J Korean Pediatr Soc. 2003;46(8):826-830. Published online August 15, 2003.

A Case of ARCI Syndrome with Hypoplasia of Corpus Callosum and Heart Anomaly

Eo-Jin EJ Kim¹, Young-Ran YR Yoon¹, Min-Hae MH Lee¹, Ki-Su KS Kang¹, Jae-Young JY Lim¹, Myoung-Bum MB Choi¹, Chan-Hoo CH Park¹, Hyang-Ok HO Woo¹, Hee-Shang HS Youn¹

¹Department Of Pediatrics, GyeongSang National University, College of Medicine, Jinju, Korea

Correspondence Chan-Hoo CH Park ,Email: aroma@nongae.gsnu.ac.kr

Abstract

ARCI syndrome consists of arthrogryposis, renal tubular acidosis, cholestatic jaundice and icthyosis. We experienced an ARCI syndrome case with corpus callosum hypoplasia and atrial septal defect. This case had oral feeding difficulty, multiple joint contracture, renal tubular acidosis and neurogenic muscular atrophy at neonatal period. At two months of age, icthyosis and cholestatic jaundice were diagnosed. The case was hospitalized due to pneumonia at four months of age. Corpus callosum hypoplasia and atrial septal defect were detected. The case was treated with a mechanical ventilator because pneumonia was aggravated and respiratory failure occurred. The patient expired at five months of age.

Keywords :ARCI, Arthrogryposis, Renal tubular acidosis, Cholestatic jaundice, Icthyosis