Arthrogryposis, renal tubular dysfunction, cholestasis (ARC)-syndrome: Case report and review of the literature

The ARC-syndrome is a rare disease with the obligatory symptomes arthrogryp osis, renal tubular dysfunction and cholestasis. Optional further symptomes like ichthyosis, diarrhea, central nervous system defects and recurrent in fections have been reported. The ARC-syndrome was first reported by Lutz-Ri chner and Landolt in 1973. The pathophysiology is still unknown, an autosom al recessive inheritance is postulated. Patients rarely exceed an age of si x month. We report a boy of consanguineous Turkish parents who suffered from congeni tal deformities of the lower extremities, a metabolic acidosis and failure to thrive. In the sequel he developed a renal Fanconi syndrome and cholesta sis. Histology of liver and muscle biopsy specimen showed the typical findi ngs of the disease with giant cell hepatitis and neurogenous muscle atrophy . His condition could be stabilized and he increased in weight by substitut ing fluid, electrolytes, buffer and parenteral nutrition. Total enteral nut rition of the 280 ml/kg/d he required failed even by nasogastric tube and p ercutaneous endoscopic gastrostomy. Additonal fluid substitution by central venous catheter remained necessary. At the age of 7 month he died.