Fungal meningitis and intracerebral hemorrhage complicating prosthetic valve endocarditis.

A 50 yr old man presented with meningitis 163 days following aortic valve replacement for congenital bicuspid aortic stenosis. One week later he died of intracerebral hemorrhage and autopsy revealed fungal prosthetic valve endocarditis. Colonies of branching septate hyphae were adherent to the oculomotor nerves and left posterior communicating artery. This pattern of fungal basal meningeal involvement complicating prosthetic valve endocarditis has not been previously described.

Neurolymphomatosis presenting as mononeuritis multiplex.

We report the case of a 60-year-old man who presented with a mononeuritis multiplex-type illness, beginning cranially and then sequentially involving peripheral nerves in all four limbs and torso. Despite extensive investigation, including multiple lumbar punctures and tissue biopsies, the diagnosis was not made until his death 10 months after presentation. Post mortem revealed lymphocytic infiltration of multiple peripheral nerves and radicules with minimal central nervous system involvement, consistent with neurolymphomatosis. Except for the pericardium, there was no other evidence of systemic lymphoma. Recent similar case reports highlight the value of magnetic resonance imaging of plexi and peripheral nerves, which may increase the chance of an antemortem diagnosis in this typically elusive disorder.

E. Graeme Robertson--dynamics in fluid and light.

An eponymous lecture at the Australian and New Zealand Association of Neurologists Annual Scientific Meeting commemorates E. Graeme Robertson (1903-75), and some neurologists will know that particular Australian practices in clinical neurology, so far as they exist, have origins in his career. This is a historical article on the literary record of a man who had his own sense of history--an affinity with the past as well as an awareness of future generations of readers. He wrote authoritative texts on pneumoencephalography before new technology made it obsolete, and he produced a series of books on decorative architectural cast iron in Australian cities. A talent for visual interpretation seems to have drawn him to both of these topics; a common theme is contrast between light and dark, which is expatiated in images and in clear, well-written prose in his publications. We review his medical writings, including some largely forgotten principles of cerebrospinal fluid physics that he discovered when researching pneumoencephalography. We also explore his obsession with cast iron--its architectural historical significance, his techniques for photographing it, and some of the ways that it related to his life's work as a clinical neurologist.

Multiple spinal dural arteriovenous fistulae and deterioration post lumbar puncture.

We report a 73-year-old man presenting with bilateral leg numbness and weakness. Three spinal dural arteriovenous fistulae (SDAVF) were found after clinical deterioration post lumbar puncture (LP). This patient highlights the difficulties in the diagnosis and management of SDAVF, and the risks of LP.

Two dimensional echocardiography and left ventriculography in cardiac sarcoidosis.

A 48-year-old woman with histologically proven pulmonary sarcoidosis presented with congestive heart failure. Two dimensional echocardiography showed a peculiarly ragged appearance at the left ventricular apex which was confirmed on left ventriculography. This echocardiographic finding has not been previously described in cardiac sarcoidosis.

Degree of hippocampal atrophy is not related to a history of febrile seizures in patients with proved hippocampal sclerosis.

OBJECTIVES: To examine the degree of hippocampal atrophy in patients with temporal lobe epilepsy and proved hippocampal sclerosis to determine whether or not patients with febrile seizures have more severe hippocampal atrophy. To determine whether or not there is a relation between age of seizure onset, duration of temporal lobe epilepsy, or seizure frequency, and severity of hippocampal atrophy. METHODS: Hippocampal volumes were measured from volumetrically acquired MR images in 77 consecutive surgical patients with temporal lobe epilepsy (37 febrile seizures (FS)+, 40 FS-) with proved hippocampal sclerosis, and compared with 98 controls. RESULTS: Ipsilateral and contralateral hippocampal volumes were not significantly different between the FS+ and FS- groups. There was no difference in the age of onset of habitual seizures, duration of epilepsy, or age at the time of surgery, between these groups. No clinically significant correlations were found between hippocampal volumes and age of onset of first non-febrile seizure, duration of temporal lobe epilepsy, or complex partial and secondarily generalised seizure frequency, in patients with and without febrile seizures. CONCLUSIONS: Although febrile seizures was associated with hippocampal sclerosis in 48% of patients in this surgical series, the degree of MRI determined hippocampal atrophy was not related to a history of such seizures. The results do not support the view that febrile seizures cause more severe hippocampal sclerosis and are consistent with the hypothesis that hippocampal sclerosis is a pre-existing abnormality.

Amygdala volumetry in "imaging-negative" temporal lobe epilepsy.

OBJECTIVE: Although amygdala abnormalities are sometimes suspected in "imaging-negative" patients with video EEG confirmed unilateral focal epilepsy suggestive of temporal lobe epilepsy (TLE), amygdala asymmetry is difficult to assess visually. This study examined a group of "imaging-negative" TLE patients, estimating amygdala volumes, to determine whether cryptic amygdala lesions might be detected. METHODS: Review of video EEG monitoring data yielded 11 patients with EEG lateralised TLE and normal structural imaging. Amygdala volumes were estimated in this group, in 77 patients with pathologically verified hippocampal sclerosis (HS), and in 77 controls. RESULTS: Seven of 11 "imaging-negative" cases had both significant amygdala asymmetry and amygdala enlargement, concordant with seizure lateralisation. Although significant amygdala asymmetry occurred in 35 of 77 HS patients, it was never attributable to an abnormally large ipsilateral amygdala. Compared with patients with HS, patients with amygdala enlargement were less likely to have suffered secondarily generalised seizures (p<0.05), and had an older age of seizure onset (p<0.01). CONCLUSION: Abnormal amygdala enlargement is reported in seven cases of "imaging-negative" TLE. Such abnormalities are not observed in patients with HS. It is postulated that amygdala enlargement may be attributable to a developmental abnormality or low grade tumour. It is suggested that amygdala volumetry is indicated in the investigation and diagnosis of "imaging-negative" TLE.

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency.

We have identified a new pathogenic mechanism for an inherited muscular dystrophy in which functional haploinsufficiency of the extracellular matrix protein collagen VI causes Bethlem myopathy. The heterozygous COL6A1 mutation results in a single base deletion from the mRNA and a premature stop codon. The mutant mRNA is unstable, subject to nonsense-mediated mRNA decay, and is almost completely absent both from patient fibroblasts and skeletal muscle, resulting in haploinsufficiency of the alpha1(VI) subunit and reduced production of structurally normal collagen VI. This is the first example of a muscular dystrophy caused by haploinsufficiency of a structural protein or member of the dystrophin-glycoprotein complex, and identifies collagen VI as a critical contributor to cell-matrix adhesion in skeletal muscle.