Sequential MRI changes in Wilson's disease with de-coppering therapy: a study of 50 patients

Abstract

Wilson's disease (WD) is clinically and radiologically a dynamic disorder. However, there is a paucity of studies involving sequential MRI changes in this disease with or without therapy This study looked at serial MRI changes and their clinical correlate in patients with WD The severity of MRI changes using 1.5 T MRI in 50 patients with WD was graded based on alteration in signal intensity of focal lesions and atrophy. Details of clinical manifestations, Schwab and England Activities of daily living (MSEADL) score, Neurological Symptom Score (NSS) and Chu staging were recorded. Clinical severity and disability scores were correlated with MRI scores using SPSS v10 The mean age at onset of illness and diagnosis was 12.8+/-5.6 years and 14.4+/-6.0 years, respectively. At the time of first MRI, patients had been treated for 49.0+/-77.3 months. At a follow-up of 24.2+/-12.2 months, clinically 36 patients had improved, 9 remained the same and 5 had worsened. Serial imaging revealed an improvement in MRI parameters in 35 patients, no significant changes in 10, worsening in 4 and an admixture of resolving and evolving changes in 1. The overall MRI score improved from 8.2+/-5.7 to 5.9+/-6.6. There was an improvement in measures of disability and impairment in all: Chu stage, 11.5+/-0.7 to 1.3+/-0.6; MSEADL score (%), 79.7+/-27.6 to 88.0+/-25.4; NSS, 10.6+/-11.2 to 8.0+/-11.6, with good clinico-radiological correlation. Patients with extensive changes, white-matter involvement and severe diffuse atrophy had a poor prognosis In conclusion, the majority of patients with WD showed variable improvement in clinical and MRI features when treated.

MRI and oxidative stress markers in neurological worsening of Wilson disease following penicillamine

“…This study highlights the correlation of clinical worsening with corresponding MRI and biochemical changes. A study on sequential MRI in WD with neurological manifestations following decoppering therapy for a period of 24.2 AE 12.2 months revealed improvement in MRI changes in 35 patients, no changes in 10, worsening in four and an admixture of resolving and evolving changes in one patient (Sinha et al, 2007). In this study, MRI however was not repeated at the time of deterioration and DWI was also not obtained.…”

Contribution of metals to brain MR signal intensity: review articles

“…The cause of this hyperintensity on T2WI is unclear, but edema, gliosis, neuronal necrosis, and cystic degeneration due to copper toxicity have all been proposed. Hyperintense regions on T2WI occasionally diminish after therapy, and this change may reflect edema and gliosis [98][99][100]. Hyperintensity of the globus pallidus on T1WI was initially attributed to copper accumulation [101], but manganese deposition due to liver dysfunction has more recently been implicated [91,100].…”

Acquired hepatocerebral degeneration

“…Lactulose, antibiotics and short-term dietary protein restriction may minimize co-morbid toxic-metabolic encephalopathy and may reduce symptoms of AHD in some patients [117,154]; however, AHD-related movement disorders seldom respond well to ammoniareducing therapies [55,83,110,114,122,131,148]. Hyperglycemic hyperosmolar state T1 hyperintensities are typically asymmetrical and are located in the striatum more often than the pallidum; lesions do not enhance T2 sequences may show low, iso-, or high signal intensity lesions with restricted diffusion in the basal ganglia CT may be normal or show high-attenuation lesions in the striatum [12,102] Wilson disease T1 sequences more often show low or iso-, signal intensity lesions in the basal ganglia, but hyperintensities have been reported; lesions do not enhance T2 sequences may show low or high signal intensity lesions with restricted diffusion FLAIR sequences may show the "giant panda face" sign CT may show low-attenuation lesions in the basal ganglia and thalamus Cortical, subcortical white matter, thalamic, cerebellar and brainstem lesions often accompany basal ganglia disease [105,130,136] Neurodegeneration with brain iron accumulation (NBIA) Four NBIA subtypes include: Pantothenate kinase associated neurodegeneration (PKAN), infantile neuroaxonal dystrophy, neuroferritinopathy and aceruloplasminemia NBIA may cause increased T1 signal in the basal ganglia, but changes on T2-weighted imaging are the more common and prominent finding; lesions do not enhance T2 and fast spin echo sequences distinguish NBIA subtypes. All 4 subtypes cause T2 hypointensities within the globus pallidus and substantia nigra.…”