Liver disease in Navajo neuropathy

Objective: To describe clinical and histologic features of liver disease in infants and children with Navajo neuropathy (NN). Methods: Physicians at Navajo Area Indian Health Service facilities and neu rologists and gastroenterologists at regional referral hospitals were surve yed for identification of patients born between 1980 and 1994 with known or Suspected NN. Clinical records and liver histologic findings were reviewed . Results: Liver disease was present in all children with NN. Three clinical phenotypes of NN were observed, based on;age at presentation and course: in fantile MV presented in 5 infants before 6 months of age with jaundice and failure to thrive and progressed to liver failure before 2 years of age; ch ildhood NN presented in 6 children between 1 and 5 years of age with liver dysfunction, which progressed to liver failure and death within 6 months; a nd classical NN presented in 9 children with variable onset of liver diseas e but progressive neurologic deterioration Liver histologic findings were c haracterized by multinucleate giant cells, macrovesicular and microvesicula r steatosis, pseudo-acini, inflammation cholestasis, and bridging fibrosis and cirrhosis, Cases of all 3 phenotypes occurred within the same kindred. Conclusions: Liver disease is an important component of NN and may be the p redominant feature in infants and young children. We propose changing the n ame of this disease to Navaho neurohepatopathy.