ABSTRACT
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.
Subject(s)
Child , Humans , Infant, Newborn , Male , Acidosis , Acidosis, Renal Tubular , Arthrogryposis , Biopsy , Cholestasis , Contracture , Ear , Failure to Thrive , Giant Cells , Hepatocytes , Hyperbilirubinemia , Joints , Kidney , Lethargy , Liver , Nephrocalcinosis , Palate , Proteinuria , WillsABSTRACT
No abstract available.
Subject(s)
Biopsy, Fine-Needle , Breast Neoplasms , Breast , DiagnosisABSTRACT
No abstract available.
Subject(s)
Doxorubicin , Drug Therapy, Combination , Etoposide , Fluorouracil , Mitomycin , Retrospective Studies , Stomach NeoplasmsABSTRACT
No abstract available.