Alan R. Valentine

Magnetic resonance imaging changes in Fabry disease

UNLABELLED 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. CONCLUSION MRI is a valuable resource for assessing the CNS complications of Fabry disease, and their response to time and treatment.

Troyer syndrome revisited: A clinical and radiological study of a complicated hereditary spastic paraplegia

Abstract.Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive. The cardinal features are spastic paraparesis, pseudobulbar palsy and distal amyotrophy, together with mild developmental delay and subtle skeletal abnormalities. We report a detailed evaluation of 21 cases of Troyer syndrome in the same Amish population, including three from the original study. Imaging of the brain revealed white matter abnormalities, particularly in the temporoparietal periventricular area. This study, coupled with the recent identification of the gene responsible (SPG20, encoding spartin), increases our understanding of this form of HSP.

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.

Amyloid angiopathy and granulomatous angiitis of the central nervous system: a case responding to corticosteroid treatment

SummaryA 73-year-old woman presented with multifocal cerebral dysfunction of 1 months duration. Cranial CT scanning revealed unusual widespread abnormalities. Brain biopsy showed amyloid angiopathy affecting vessels in the meninges and cerebral cortex, with associated granulomatous angiitis. There was no clinical evidence of extracranial vasculitis. Corticosteroid therapy produced striking clinical and radiological improvement.

Idiopathic spinal arachnoid cyst and syringomyelia.

There have been isolated reports in the literature of an association between spinal arachnoid cyst and syringomyelia as a sequel to spinal trauma. We describe a case of syringomyelia of the cervico-thoracic cord associated with an idiopathic, dorsally situated intradural arachnoid cyst of the upper thoracic segments. A causal relationship is suggested. A 53-year-old man presented with 1 weeks unsteadiness of gait which had developed abruptly and worsened during the first 3 days of his illness. Over the same period he became aware of lower-limb sensory disturbance, his legs feeling encased in tight metal bands. There were no other neurological symptoms; in particular, no sphincter disturbance or back pain. There was no past medical history or family history of note.

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.

Corticosteroids and the prevention of adverse reactions to myelography

Side-effects of iohexol myelography were compared after pre-treatment with oral dexamethasone (n = 42) or placebo (n = 44) in a prospective, randomized, double blind, controlled clinical trial. Although myelogram side-effects were commoner in the placebo group, the differences generally did not reach statistical significance. The routine prophylactic use of oral corticosteroids for myelogram side-effects therefore cannot be recommended and our results may cast doubt on their use in the treatment of these symptoms once they have developed. These findings also suggest that inflammatory processes (allergic or chemical irritant), relating to the contrast agent itself, against which corticosteroids might have been expected to act, have at most a minor pathogenetic role in postmyelogram symptomatology.

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.