Congenital cholesteatoma: what radiologists need to know.

Congenital cholesteatoma is a rare, non-neoplastic lesion that causes conductive hearing loss in children. It is underrecognized and often diagnosed only when there is an established hearing deficit. In the pediatric population, hearing deficiency is particularly detrimental because it can impede speech and language development and, in turn, the social and academic well-being of affected children. Delayed diagnosis leads to advanced disease that requires more extensive surgery and a greater chance of recurrence. A need to promote awareness and recognition of this condition has been advocated by clinicians and surgeons, but no comprehensive imaging review dedicated to this entity has been performed. This review aims to discuss the diagnostic utility of high-resolution computed tomography and magnetic resonance imaging in preoperative and postoperative settings in congenital cholesteatoma. Detailed emphasis is placed on the essential preoperative computed tomography findings that facilitate individualized surgical management and prognosis in the pediatric population.

Basilar artery diameter as neuroimaging biomarker in Chinese Fabry disease patients.

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease resulting from mutations of α-galactosidase A gene, and has been emphasized as one of the etiologies of young stroke and leukoencephalopathy. Vertebrobasilar dolichoectasia (VBD) is a highlighted finding in FD. We aim to examine the utility of VBD in Chinese FD by comparing the differences in basilar artery (BA) diameter of Chinese FD patients against age-matched controls with and without stroke. METHODS: This was a matched case-control study involving 37 Chinese FD patients. The BA diameters were evaluated on axial T2-weighted magnetic resonance imaging and compared to two age-and-gender matched control groups, one with stroke and one without. The association between BA diameter and stroke occurrences and white matter hyperintensities (WMH) were analyzed among all FD patients. RESULTS: Patients with FD had significantly increased BA diameter compared to controls with and without stroke (p < 0.001). A BA diameter of 4.16 mm could distinguish FD from controls in the stroke subgroup (ROC AUC 0.870, p = 0.001, sensitivity 80% specificity 100%), and with a cut-off of 3.21 mm in the non-stroke subgroup (ROC AUC 0.846, p < 0.001, sensitivity 77.8% specificity 88.9%). Larger BA diameter had more stroke occurrences and was moderately associated with heavier WMH load in terms of higher total FAZEKAS scores. (Spearman's rho = 0.423, p = 0.011). CONCLUSION: VBD was also present in Chinese FD patients. BA diameter has high diagnostic utility in identifying FD from a mixed cohort of stroke and normal controls, and carried predictive value in evaluating neurological complications of FD.