J Korean Pediatr Soc.
2003 Aug;46(8):826-830.
A Case of ARCI Syndrome with Hypoplasia of Corpus Callosum and Heart Anomaly
- Affiliations
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- 1Department Of Pediatrics, GyeongSang National University, College of Medicine, Jinju, Korea. 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.
