Pseudo-eye-of-the-tiger sign in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS).

The well-known eye-of-the-tiger sign features bilateral and symmetrical changes in the globus pallidus, with a central area of high signal and peripheral low signal on T2-weighted MRI. Although formally considered pathognomonic of pantothenate kinase-associated neurodegeneration (PKAN), there are other neurodegenerative or genetic diseases showing similar findings. Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a late-onset ataxia, that was recently associated with biallelic AAGGG repeat expansion in the RFC1 gene. Although its predominant MRI finding is cerebellar atrophy, there may be other less common associated findings. Our aim is to present two cases of CANVAS with associated (pseudo-)eye-of-the-tiger sign, highlighting the possibility of yet another differential diagnosis for this imaging sign.

Brain imaging findings in CLCN2-related leukoencephalopathy.

CLCN2-related leukoencephalopathy is a rare autosomal-recessive disease caused by a loss-of-function mutation in the ClC-2 chloride channel, which is fundamental in ion and water brain homeostasis. With only 31 cases published in the literature, its precise pathophysiology is uncertain, clinical manifestations are nonspecific and little is known in terms of prognosis. Neuroimaging plays a fundamental role in the identification of CLCN2-related leukoencephalopathy, which has a typical magnetic resonance imaging pattern that, when recognized, should promote proper genetic study for diagnostic confirmation. We report a paediatric clinical case of CLCN2-related leukoencephalopathy with genetically verified c.1709G > A p(Trp570*) mutation, highlighting typical neuroimaging findings and the importance of imaging in the diagnostic approach.

Multiparametric analysis from dynamic susceptibility contrast-enhanced perfusion MRI to evaluate malignant brain tumors.

BACKGROUND AND PURPOSE: Dynamic susceptibility contrast-enhanced (DSC) MR perfusion is a valuable technique for distinguishing brain tumors. Diagnostic potential of measurable parameters derived from preload leakage-corrected-DSC-MRI remains somewhat underexplored. This study aimed to evaluate these parameters for differentiating primary CNS lymphoma (PCNSL), glioblastoma, and metastasis. METHODS: Thirty-nine patients with pathologically proven PCNSL (n = 14), glioblastoma (n = 14), and metastasis (n = 11) were analyzed. Five DSC parameters-relative CBV (rCBV), percentage of signal recovery (PSR), downward slope (DS), upward slope (US), and first-pass slope ratio-were derived from tumor-enhancing areas. Diagnostic performance was assessed using receiver operating characteristic curve analysis. RESULTS: RCBV was higher in metastasis (4.58; interquartile range [IQR]: 2.54) and glioblastoma (3.98; IQR: 1.87), compared with PCNSL (1.46; IQR: 0.29; p = .00006 for both). rCBV better distinguished metastasis and glioblastoma from PCNSL, with an area under the curve (AUC) of 0.97 and 0.99, respectively. PSR was higher in PCNSL (88.11; IQR: 21.21) than metastases (58.30; IQR: 22.28; p = .0002), while glioblastoma (74.54; IQR: 21.23) presented almost significant trend-level differences compared to the others (p≈.05). AUCs were 0.79 (PCNSL vs. glioblastoma), 0.91 (PCNSL vs. metastasis), and 0.78 (glioblastoma vs. metastasis). DS and US parameters were statistically significant between glioblastoma (-109.92; IQR: 152.71 and 59.06; IQR: 52.87) and PCNSL (-47.36; IQR: 44.30 and 21.68; IQR: 16.85), presenting AUCs of 0.86 and 0.87. CONCLUSION: Metastasis and glioblastoma can be better differentiated from PCNSL through rCBV. PSR demonstrated higher differential performance compared to the other parameters and seemed useful, allowing a proper distinction among all, particularly between metastasis and glioblastoma, where rCBV failed. Finally, DS and US were only helpful in differentiating glioblastoma from PCNSL.