Myelopathy but normal MRI: where next?

For most patients presenting with a spinal cord syndrome MR scanning has become the key investigation in establishing the diagnosis. However, myelopathy with normal spinal imaging remains a common clinical conundrum. In this review we discuss the diagnoses to consider for the neurologist presented with a patient with "MR normal myelopathy".

Positive serological tests for syphilis and administration of intravenous immunoglobulin.

We report the case of a man who tested positive for syphilis following the intravenous administration of human normal immunoglobulin as part of the treatment of Guillain-Barré syndrome. The chronology of the testing suggested the passive acquisition of treponemal antibody. This phenomenon is not widely documented in the medical literature, but is a theoretical risk of treatment, and serves as a reminder to be cautious in the interpretation of such serological tests.

Neurological presentation of intravascular lymphoma: report of two cases and discussion of diagnostic challenges.

About a third of patients with intravascular lymphoma (IVL) present to the neurologist with symptoms mimicking thromboembolic events. Diagnosis is difficult, and often made postmortem. As remission may be induced in almost half of patients with combination chemotherapy, early diagnosis of this rare disease is essential.

Pathological heterogeneity of clinically diagnosed corticobasal degeneration.

Two patients fulfilling suggested clinical diagnostic criteria for corticobasal degeneration (CBD) are presented, who were found at postmortem to have alternative pathological diagnoses not suspected during life, namely, Alzheimer's disease and Pick's disease, respectively. The nosological position of these cases is considered in light of a literature review of previous reports of clinically diagnosed corticobasal degeneration with atypical (not corticobasal degeneration) pathology. Since such phenocopies may be common, we suggest that all clinically diagnosed cases of corticobasal degeneration should initially be labelled as "corticobasal degeneration syndrome" (CBDS) to emphasize that this is a diagnosis based on clinical phenotype, with the term corticobasal degeneration being reserved for the specific neuropathological phenotype, which itself may have a variety of clinical presentations.

Mutational analysis of 206 families with cavernous malformations.

Object: A gene contributing to the autosomal-dominant cerebral cavernous malformation (CCM) phenotype, KRIT1 (an acronym for Krev Interaction Trapped 1), has been identified through linkage analysis and mutation screening. The authors collected blood samples from 68 patients with familial CCM and 138 patients with apparently sporadic CCM as well as from their families, in an effort to characterize the prevalence and spectrum of disease-causing sequence variants in the KRIT1 gene.

Methods: The authors used single-strand conformational polymorphism analysis to identify genomic variants in KRIT1, which were sequenced to determine the specific mutation.

"CADASIL coma": an underdiagnosed acute encephalopathy.

The main clinical features of CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) are stroke, dementia, and migraine. A reversible acute encephalopathy was the principal presentation in six of 70 patients in a British prevalence study. The episodes lasted seven to 14 days, presenting with fever, acute confusion, coma, and fits; there was full recovery but in two cases identical episodes recurred some years later.

Overdiagnosis of TIA and minor stroke: experience at a regional neurovascular clinic.

We compared the referral diagnoses of TIAs and minor strokes made by non-specialists with those of two consultant neurologists, in 565 consecutive cerebrovascular clinic patients, of whom 508 (90%) were referred with a diagnosis of any TIA or stroke. In 373 (73%), the neurologists felt the diagnosis of a cerebrovascular event to be correct. Agreement with the vascular syndrome (CVA vs.

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.

In occasional families in whom cases of classic Friedreich's ataxia (FRDA) coexist with affected cases with retained reflexes, linkage analysis has shown that both map to the FRDA locus on chromosome 9q13-21.1. A gene X25 has been identified within the critical region of the FRDA locus, and an intronic expanded GAA trinucleotide repeat has been found in most cases of FRDA.

Causes of ischaemic stroke in the young.

The causes of ischaemic stroke in young adults are many and diverse. Such patients usually require more extensive investigations in order to find an underlying cause than more elderly patients. It is important that a comprehensive search is made since many of the underlying disorders are treatable.

Cerebral venous thrombosis.

Cerebral venous thrombosis is a treatable and under-recognised cause of a benign intracranial hypertension syndrome, and may also cause focal signs, seizures, and depression of consciousness.

Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. A clinical and genetic study of eight families.

We describe 54 members of eight families with a distinct autosomal dominant cerebellar ataxia associated with visual failure secondary to a pigmentary macular dystrophy. The presenting symptom was ataxia in two-thirds of patients and visual failure or both in the remainder. The macular abnormalities were often subtle in early cases, even in some with moderately reduced visual acuity.