Evaluating a Pseudo-Wilson Disease Patient: A Previous Undescribed Disease Association of Hallervorden-Spatz Syndrome (HSS) with Anti-m2 Positivity

Abstract

Purpose: Hallervorden-Spatz Syndrome is a rare neurodegenerative disease with 2 types of clinical presentation: early and late onset. In this subtype, psychiatric, pyramidal and extrapyramidal signs are present. A 56 years old female patient was referred to us to evaluate a possible Wilson’s disease, because of liver function tests abnormalities (ALT and AST 2N; alk phos 1,5 N, GGT 8N) associated to recent psychiatric disturbances (mainly depressive type) and extrapyramidal signs (discrete spasticity, dysarthria and dystonia). No family history of neurological or autoimmune disorders was recorded; she was not taking any medication. She underwent extensive work up revealing high levels of anti-mithocondrial antibodies (>1/640) with positive anti-M2. Cholesterol was 240 mg/dl and tryglicerides were 8 times above normal. Liver biopsy showed panlobular steatosis with scarce fi brosis and no infl ammation, namely on portal triads. Copper in serum, urine and liver measurements were normal. MRI showed bilateral symmetric hyperintense signal changes in globus pallidus, with surrounding hypointensity on T2-weighted images, the characteristic “eye-of-the-tiger” sign. Th erapy was initiated to treat dyslipidemia, including weight loss, and aft er 6 months there has been a progressive normalization of liver tests (except GGT) and no worsening on the discrete neurological signs. To our knowledge it is the fi rst description of this curious association between an iron metabolism disorder and a possible secondary copper accumulation disease (primary biliary cirrhosis).