Hepatocerebral degeneration: report of a pediatric case

Abstract

Acquired (non-Wilsonian) hepatocerebral degeneration (AHD) is a rare, irreversible neurologic syndrome that occurs in patients with associated chronic liver disease. It is characterized by progressive dysfunction of extrapyramidal and cerebellar systems. Although clinical and laboratory findings are helpful in the differentiation from Wilson´s disease, the underlying pathophysiology has not been clearly elucidated. These patients have hyperammonemia or abnormal ammonia tolerance tests and high manganese concentrations. Some neurological signs are dysarthria, ataxia, tremor and dementia, with recurrent attacks of hepatic encephalopathy. Pyramidal tract signs are usually present. T1-weighted images demonstrate increased signal intensity in the basal ganglia, although cerebellum seems to be spared. However, bilateral signal abnormalities in the dentate nuclei on T2-weighted images can occur in AHD, indistinguishable from those of Wilson's disease. Such gray matter lesions can be found in hepatocerebral degeneration due to deposition of paramagnetic substances in the putamen, globus pallidus, subthalamic region, red nucleus, quadrigeminal plate and anterior pituitary. We describe the case of a 3.5 year-old male patient with an hepatic miofibroblastic tumor who had been followed for one year. Neurologic examination and mental status were normal, except for the presence of bilateral palmomental reflexes and the characteristic MRI findings of AHD. There were no Kayser-Fleischer corneal rings. In conclusion AHD can be found in children with liver disease and no apparent neurological findings and MRI abnormalities in T1 may be the only way of diagnosing this entity.