CEREBRAL DEFECTS AND NEPHROGENIC DIABETES-INSIPIDUS WITH THE ARC SYNDROME - ADDITIONAL FINDINGS OR A NEW SYNDROME (ARCC-NDI)

We report on 4 children from 2 unrelated families who appear to have t he lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic dia betes insipidus and cerebral anomalies, including deafness, With incre ased survival time in our patients, paucity of the intrahepatic bile d uctules and cholestasis progressed to cirrhosis, growth was severely i mpaired, and severe mental retardation became apparent, No evidence wa s found for peroxisomal, chromosomal, or mitochondrial disorders, We p ropose to amend the ARC mnemonic to ARCC-NDI (A-Arthrogryposis, R-rena l Fanconi, C-cerebral, C-cholestasis, NDI-nephrogenic diabetes insipid us) to name the major manifestations of this syndrome, several of whic h have not been appreciated. (C) 1997 Wiley-Liss, Inc.