Cerebral Defects and Nephrogenic Diabetes Insipidus with the ARC Syndrome: Additional Findings or a New Syndrome (ARCC-NDI)?
| Title: | Cerebral Defects and Nephrogenic Diabetes Insipidus with the ARC Syndrome: Additional Findings or a New Syndrome (ARCC-NDI)? |
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| Authors: | Van Hove, Johan L.K.; Morris, C. Richard; Rhoads, J. Marc; Summar, Marshall L.; Coleman, M.D., Rosalind A. |
| Publisher: | American Journal of Medical Genetics |
| Date Published: | October 01, 1997 |
| Reference Number: | 172 |
We report on 4 children from 2 unrelated families who appear to have the lethal ARC syndrome (arthrogryposis, renal tubular dysfunction, and cholestasis) together with the additional findings of nephrogenic diabetes insipidus and cerebral anomalies, including deafness. With increased survival time in our patients, paucity of the intrahepatic bile ductules and cholestasis progressed to cirrhosis, growth was severely impaired, and severe mental retardation became apparent. No evidence was found for peroxisomal, chromosomal, or mitochondrial disorders. We propose to amend the ARC mnemonic to ARCC-NDI (A-Arthrogryposis, R-renal Fanconi, C-cerebral, C-cholestasis, NDI-nephrogenic diabetes insipidus) to name the major manifestations of this syndrome, several of which have not been appreciated.
This translation by the NDI Foundation is to assist the lay reader. To provide a clear, accessible interpretation of the original article, we eliminated or simplified some technical detail and complicated scientific language. We concentrated our translation on those aspects of the article dealing directly with NDI. The NDI Foundation thanks the researchers for their work toward understanding and more effectively treating this disorder.
© Copyright NDI Foundation 2007 (JC)
In addition to this, the patients had cerebral abnormalities that manifested as severe developmental delay, markedly diminished tone of the skeletal muscles, poor feeding, an abnormal smallness of the head, and defects of the corpus collosum, an arched mass of white matter located in the depths of the brain. In addition, they had nephrogenic diabetes insipidus (NDI).
Twenty-three children from 11 families have now been described as having the ARC syndrome, though not all these children displayed every possible manifestation of the syndrome. Of the four patients described by Coleman, et al., one patient in each of the two families did not have arthrogryposis, which together with the prominent NDI and the other cerebral abnormalities prevented the authors from initially recognizing the ARC syndrome.
The authors propose amending the acronym ARC to ARCC-NDI (A - arthrogryposis, R - renal Fanconi, C - cerebral, C - cholestasis, NDI - nephrogenic diabetes insipidus) in order to name all the major manifestations of this syndrome which, up to this point, have not all been recognized as expressions of the syndrome. They hope this will facilitate proper diagnosis.
Though the cause of this syndrome is unknown, its inheritance pattern is consistent with autosomal recessive inheritance. This means that the mutated gene responsible for this syndrome is located on one of the 22 pairs of non-sex hormones. And it would have to be inherited in a double dose (i.e. one gene from the father, one from the mother) to cause an abnormality.