Is central pontine myelinolysis a sign of pre-symptomatic neurologic form of Wilson disease?

The diagnosis of Wilson disease (WD), a rare metabolic disorder, is based on clinical presentation of hepatic and/or neurologic involvement or routine screening due to the index case. Magnetic resonance imaging (MRI) was frequently normal in patients with hepatic form of WD (2). Central ponti-ne myelinolysis (CPM) is usually an acquired disorder associated with rapid correction of hypo-natremia, high amount of and chronic alcohol intake , and rarely, a neurological form of WD (3). We describe a patient who had an image of CPM noted via MRI in spite of the absence of neuropsy-chiatric symptoms or findings of a neurologic form of WD. A 26-year-old male was admitted to our hospital with upper gastrointestinal system bleeding and massive ascites. Physical examination revealed massive ascites, cachexia and palmar erythema. Upper gastrointestinal endoscopy showed lower esophageal varices and portal hypertensive gas-tropathy. Laboratory parameters were as follows: alanine aminotransferase (ALT) 30 IU/L, asparta-te aminotransferase (AST) 34 IU/L, gamma glu-tamyl transpeptidase (GGT) 80 IU/L, total biliru-bin 0.8 mg/dl, albumin 3.0 g/dl, and prothrombin time (PT) 12 sec. Viral markers for A-E were negative. The patient denied drinking alcohol. Family history for liver diseases or any other diseases leading to sudden death or neurological deterioration were all negative. His general status was good, and normal range of body stature was also noted. Serum ceruloplasmin level was 13.4 mg/dl, excre-tion of copper in urine was in normal range, Kay-ser-Fleischer ring examination by slit lamp was positive, and finally fine needle biopsy revealed excess copper accumulation in the liver. Cranial MRI revealed CPM, atrophy in the cerebellum and cerebrum, hyperintensity on T2 images in the region of cerebral white matter, parietal and peri-ventricular regions, optic radiation, and corticos-pinal tracts. However, there was no abnormality on neurological examination, with normal range of serum electrolytes. Wilson disease (WD) is an autosomal recessive disease in which a defect in the copper excretion system leads to an accumulation in some tissues, especially in the liver and brain (4). Cranial MRI usually reveals some pathologic changes in patients with the neurologic form of WD, and the lesi-ons in MRI mostly represent bilateral basal gang-lionic lesions or diffuse atrophy of the brain. In contrast, MRI is frequently normal in patients with the pre-symptomatic neurologic form of WD, and moreover, CPM has not been determined in patients with the hepatic form of WD (2,3). The association between CPM and neurological form of WD was …