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.

Iliac artery dissection - A rare complication of renal transplantation: A case report and literature review.

External iliac artery dissection is a rare and under-reported vascular complication after renal transplantation. The etiology is yet to be fully understood. The presentation, investigation and management of this condition are highly variable. Here we report a 52-year-old man successfully treated by endovascular stenting with nitinol stents for an external iliac artery dissection proximal to the anastomosis.

Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy.

Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually referred to as a cardiac variant, although manifestations in other organ systems have been observed. In this report, we describe a nephropathy presentation in two related Chinese Fabry disease patients with p.N215S.

Renal and splenic micro-infarctions following bronchial artery embolization with tris-acryl microspheres.

A bronchial artery embolization (BAE) is an important therapeutic method used to control acute and chronic hemoptysis. We report a case of multiple micro-infarcts involving both the kidneys and spleen, following a BAE with 500-700 microm crossed-linked tris-acryl microspheres (Embospheres) in a patient with bronchial artery pulmonary vein shunts. The superior penetration characteristics of the microspheres may have resulted in the greater tendency to cross the bronchial artery pulmonary vein shunts, which subsequently caused the systemic infarcts in our patient. We propose the use of larger sized microspheres (700-900 microm), which may aid in avoiding this complication.

The clinical course of multiple sclerosis patients in Hong Kong.

BACKGROUND: Multiple sclerosis (MS) has a low prevalence in Hong Kong. OBJECTIVE: To reassess MS prevalence in Hong Kong and to examine associated risk factors for relapsing-remitting type MS patients to reach Kurtzke's Extended Disability Status Scale (EDSS) of 6.0, i.e. when walking aid was needed. DESIGN: Retrospective observational study on MS patients over 11 years. SETTING: Three tertiary hospitals in Hong Kong. RESULTS: A hundred and six patients were recruited. Female to male ratio was 3.2:1 and the prevalence was 4.8 per 100,000. 95 were relapsing-remitting (RR) type. The mean disease duration was 12.7 years (range: 1-45 years) and the duration of follow up was 11.0+/-0.8 (mean+/-SE) years. The initial mean EDSS was 1.59 and the latest mean EDSS was 4.26. 38 (40%) RR type MS patients progressed to EDSS 6.0 after a mean duration of 6.0 years. With Cox regression analysis, patients with older age (>35y) of onset (HR 2.57; 95% CI:1.29-5.11), higher EDSS of 2.0 or more upon presentation (HR 2.19; 95%CI: 1.12-4.26) were associated with progression to EDSS of 6.0, while there was a tendency towards slower disease progression for patients initially presenting with optic symptoms (HR 0.52; 95%CI: 0.23-1.16). The number of relapses and use of interferon could not be shown to have significant effect on disease progression. CONCLUSIONS: The local period prevalence ratio of MS was 4.8 per 100,000. Older age of onset and higher EDSS upon initial presentation were independent predictors for progression to EDSS of 6.0.