TY - JOUR
T1 - Liver disease in Navajo neuropathy
AU - Holve, Steve
AU - Hu, Diana
AU - Shub, Mitchell
AU - Tyson, R. Weslie
AU - Sokol, Ronald J.
PY - 1999
Y1 - 1999
N2 - 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 neurologists and gastroenterologists at regional referral hospitals were surveyed 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: infantile NN 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; childhood 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; and classical NN presented in 9 children with variable onset of liver disease but progressive neurologic deterioration. Liver histologic findings were characterized by multinucleate giant cells, macrovesicular and microvesicular 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 predominant feature in infants and young children. We propose changing the name of this disease to Navajo neurohepatopathy.
AB - 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 neurologists and gastroenterologists at regional referral hospitals were surveyed 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: infantile NN 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; childhood 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; and classical NN presented in 9 children with variable onset of liver disease but progressive neurologic deterioration. Liver histologic findings were characterized by multinucleate giant cells, macrovesicular and microvesicular 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 predominant feature in infants and young children. We propose changing the name of this disease to Navajo neurohepatopathy.
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U2 - 10.1016/S0022-3476(99)70172-1
DO - 10.1016/S0022-3476(99)70172-1
M3 - Article
C2 - 10518083
AN - SCOPUS:0033497512
SN - 0022-3476
VL - 135
SP - 482
EP - 493
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 4
ER -