Brian Kendall

Magnetic resonance imaging changes in Fabry disease

UNLABELLEDnRecognized magnetic resonance imaging (MRI) abnormalities in the brains of patients with Fabry disease include the consequences of infarction and haemorrhage, non-specific white and grey matter lesions, vascular anomalies, in particular dolicho-ectasia, and a characteristic appearance of the posterior thalamus. A preliminary analysis of MRI findings in patients registered in FOS, the Fabry Outcome Survey, indicates that most patients had abnormal scans (25/47). The commonest abnormality, in males and females, was the presence of cerebral white matter lesions, the number of which increased with patient age.nnnCONCLUSIONnMRI is a valuable resource for assessing the CNS complications of Fabry disease, and their response to time and treatment.

Chiari malformation in adults: relation of morphological aspects to clinical features and operative outcome.

To determine whether clinical features attributed to cerebellar ectopia could be related to the severity of the malformation, and if morphological features could be related to operative outcome, a retrospective study of 141 patients with the adult Chiari malformation was carried out, 81 receiving operative treatment. Morphological parameters derived from preoperative clinical imaging were compared with presenting clinical features and postoperative outcomes. Patients with the most severe cerebellar malformation, defined as descent of the cerebellar tonsils to or below the axis, had disabling ataxia and nystagmus more frequently. Those with brainstem compression had limb weakness and muscle wasting more frequently. Operative outcome was significantly less favourable in patients with severe cerebellar ectopia (12% improved, 69% deteriorated) than in those with minor ectopia (50% improved, 17% deteriorated). Patients with a distended cervical syrinx had a more favourable outcome than those without. Morphological features help predict operative risk.

Cavum Septi Pellucidi in Boxers

Objective Controversy exists over the significance of the isolated finding of cavum septi pellucidi (CSP) and its prevalence rate in healthy individuals and in professional boxers. Few magnetic resonance imaging (MRI) studies have looked at large cohorts of boxers. The aim of this study was to identify the prevalence and extent of a CSP among professional boxers and to compare these with a control group. Methods MRI studies of 164 male boxers scanned for annual British boxing board license renewal were reviewed and compared with 43 control patients. CSP prevalence, size, and extent were recorded. Extent was classified as type 1, anterior to the fornix; type 2, extending up to the fornix; and type 3, extending into the cavum vergae. Parenchymal abnormalities were documented, and the Evans ratio was used as an indication of brain atrophy. Results A CSP was present in 40% of controls and 49% of boxers. There was a trend to a higher CSP prevalence in boxers (P = .099). No control patient had type 2 or 3 extension (P < .0009), as opposed to 30% and 16% prevalence in boxers. Three boxers increased their extent over serial imaging. No difference in CSP size was established between the 2 groups (P = .43), but there was an association between progressive scans and increased CSP size over time in boxers, independent of age (P = .05). Eight boxers demonstrated a CSP on a subsequent scan not seen on an earlier scan. Conclusion The prevalence of a CSP is high among both control patients and boxers. There is a trend to a larger CSP with increasing number of scans without evidence of atrophy and independent of age. Boxers also have a greater posterior extent than controls. The findings may be explained by sudden increases in intracranial pressure that forced cerebrospinal fluid (CSF) through small defects in the septal leaflets, which result in an increase in size and or extent of a CSP.

Magnetic resonance imaging changes in Fabry disease: MRI changes in Fabry disease

Recognized magnetic resonance imaging (MRI) abnormalities in the brains of patients with Fabry disease include the consequences of infarction and haemorrhage, non‐specific white and grey matter lesions, vascular anomalies, in particular dolicho‐ectasia, and a characteristic appearance of the posterior thalamus. A preliminary analysis of MRI findings in patients registered in FOS, the Fabry Outcome Survey, indicates that most patients had abnormal scans (25/47). The commonest abnormality, in males and females, was the presence of cerebral white matter lesions, the number of which increased with patient age.