We report a case of ARC syndrome with arthrogryposis multiplex congenita, renal tubular insufficiency and cholestasis. The Patient presented in the early neonatal period with micrognathia, low set ears, high arched palate, multiple joint contracture, conjugated hyperbilirubinemia and failure to thrive. He died at the age of 1 month despite medical therapy. Findings of renal tubular insufficiency included persistent renal tubular acidosis, glucosuria, aminoaciduria, and proteinuria. Liver biopsy revealed intracellular and canalicular cholestasis, ballooning degeneration and giant cell formation of hepatocyte. Kidney sonography revealed medullary nephrocalcinosis. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. Until now, 13 cases were reported worldwide. Except one case, all children died in infancy. Autosomal recessive inheritance is the most likely mode of transmission. We have experienced a case of ARC syndrome in a male neonate with signs and symptoms of lethargy, poor oral intake, direct hyperbilirubinemia, acidosis, and multiple joint contracture.
Acidosis ; Acidosis, Renal Tubular ; Arthrogryposis* ; Biopsy ; Child ; Cholestasis* ; Contracture ; Ear ; Failure to Thrive ; Giant Cells ; Hepatocytes ; Humans ; Hyperbilirubinemia ; Infant, Newborn ; Joints ; Kidney ; Lethargy ; Liver ; Male ; Nephrocalcinosis ; Palate ; Proteinuria ; Wills

PURPOSE: To analyze the clinical characteristics and outcome of Langerhans' cell histiocytosis that developed in patients younger than 2 years and to compare them with those of older patients. MATERIALS AND METHODS: The chief complaint, age of onset, site and number of bone involvements, systemic organ involvement, treatment and final outcome of fourteen cases of histologically proven Langerhans' cell histiocytosis that developed in patients younger than 2 years were analyzed retrospectively and compared with the results from those of fourteen older patients. The Fisher Exact test was used for statistical analysis. RESULTS: Langerhans' cell histiocytosis that developed in patients younger than 2 years had a more advanced stage (2.5/1.1), multiple bone involvement (2.7/1.7 sites) and a higher rate of systemic organ involvement (29%/0%). It required chemotherapy more often (9/2 patients). There was also a trend of frequent relapse and a lower rate of complete healing, but this was not statistically significant. Among the 62 bone lesions, 47 were healed by simple observation or systemic chemotherapy without the need for surgical intervention. CONCLUSION: Langerhans' cell histiocytosis that developed in patients younger than 2 years showed multiple bone involvement, more systemic involvement and a high recurrence rate. It also required systemic chemotherapy more often. However most bone lesions were managed successfully without the need for surgical intervention.
Age of Onset ; Drug Therapy ; Histiocytosis* ; Humans ; Recurrence ; Retrospective Studies