| A Case of ARCI Syndrome with Hypoplasia of Corpus Callosum and Heart Anomaly |
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Eo-Jin Kim, Young-Ran Yoon, Min-Hae Lee, Ki-Su Kang, Jae-Young Lim, Myoung-Bum Choi, Chan-Hoo Park, Hyang-Ok Woo, Hee-Shang Youn |
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Department Of Pediatrics, GyeongSang National University, College of Medicine, Jinju, Korea |
| 뇌교량 형성 부전 및 심기형을 동반한 ARCI 증후군 1례 |
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김어진, 윤영란, 이민혜, 강기수, 임재영, 최명범, 박찬후, 우향옥, 윤희상 |
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경상대학교 의과대학 소아과학교실 |
Correspondence:
Chan-Hoo Park, Email: aroma@nongae.gsnu.ac.kr
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| Abstract |
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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. |
| Key Words:
ARCI, Arthrogryposis, Renal tubular acidosis, Cholestatic jaundice, Icthyosis |
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