Background Wilson's disease (WD) is a copper metabolism disorder that causes hepatolenticular degeneration. It is important to diagnose WD before central nervous system involvement. Purpose To demonstrate the early susceptibility changes associated with the copper accumulation in the brain of neurologically asymptomatic pediatric patients with WD using quantitative susceptibility mapping (QSM). Material and Methods Twelve patients with neurologically asymptomatic WD (mean age = 13.7 ± 3.3 years) and 14 age-matched controls were prospectively examined using a 1.5-T clinical scanner. Routine magnetic resonance (MR) sequences and a three-dimensional multi-echo spoiled gradient echo (GRE) sequence were used and QSM maps were reproduced. The quantitative susceptibility of corpus striatum, thalamus, substantia nigra, and pons were analyzed with the region of interest analysis on QSM maps. The susceptibility values of two groups were statistically compared using a two-sample t-test. Results Conventional MR images of the patients and control group were similar. However increased magnetic susceptibility in the thalamus, pons and left posterior putamen were observed in the patients compared to the control group ( p < 0.05). Conclusion We observed statistically increased susceptibility values in the brains of neurologically asymptomatic patients with WD although the conventional MR images were normal. This might be compatible with early brain impairment, before neurological symptoms occur.
A 10-year-old Syrian refugee girl was referred to Erciyes University for hematopoietic stem cell transplantation (HSCT) for Fanconi anemia (FA) associated aplastic anemia with platelet transfusion refractoriness. Her parents were first cousins and one of her siblings had previously died due to FA. On admission, her body weight was 23 kg (50 P), height was 124 cm (<3P), and head circumference was IMAGE 1 A 10-year-old girl with knee and ankle pain. (a,b) Frontal radiographs of the pelvis and lower extremities were evaluated as being normal. (c,d) Pre-contrast and post-contrast axial fat saturated T1-weighted hip images demonstrate bone marrow enhancement. MRI of whole body, coronal short tau inversion recovery (STIR) images demonstrated that (e) humeral proximal epiphyseal and metaphyseal, (f) femoral distal metaphyseal, (g) tibial proximal metaphyseal symmetrical, heterogeneous hyperintense signal changes in the bone marrow. (h) T1-weighted coronal knee image shows hypointense signal changes in the bone marrow Alper Ozcan, Sibel Saracoglu and Jeffrey Verboon contributed equally to this study.
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