Biomedical subjects
Publications and source records attributed to J M Stevens.
To date, four cases of ossified extradural pseudocyst have been described, the first being in 1951 by Verbiest who described unusual forms of compression of the cauda equina including a case of a lumbo-sacral extradural cyst and a case of 'knotting' of a caudal nerve root. We present an additional two cases.
Cortical dysgenesis (CD) is a well-recognised cause of epilepsy, but its functional anatomy is not fully understood. We recorded cortical somatosensory evoked potentials (SEPs) in 13 adult patients with epilepsy and various CDs excluding diffuse gyral malformations as diagnosed by MRI. The CD involved the perirolandic/perisylvian region in 7 patients. Six patients had neurological signs but only 3 had sensory dysfunction (astereognosis). As compared with 12 control subjects, SEPs were considered definitely abnormal in 7 patients (including the 6 with neurological signs) and equivocally abnormal in 2. The abnormalities ranged from defects affecting single components to absence of all potentials of cortical origin in one patient with hemiparesis and astereognosis. In this case it appears that gross sensory function must have been mediated by subcortical structures or through diffuse cortical projections. The initial cortical potentials (N20/P20) were absent in 6 patients, 5 of whom had CD in zones involving or bordering on the primary sensory cortex. Parietal potentials following N20 were absent or attenuated in 4 patients and of abnormally wide distribution, spreading to frontal, midline and ipsilateral electrodes, in 3 frontal components following P20 were absent, attenuated, delayed or distorted by abnormal spread of the parietal activity in 5 patients. Five patients with unilateral CD showed definite or equivocal SEP abnormalities to stimulation of both arms, suggesting there may be more widespread disturbance of cortical organisation and/or synaptogenesis, beyond the resolution of present day neuroimaging.
Sixteen affected individuals are described from two families with early onset autosomal dominant familial Alzheimer's disease. A mutation at codon 139 in the presenilin 1 gene on chromosome 14 results in a methionine to valine substitution which cosegregates with the disease in these families. Onset of dementia was before the age of 50 years in all individuals. The ages at onset within each family were tightly clustered but were significantly different between the families; this difference could not be accounted for by apolipoprotein E status and suggests the existence of a further genetic factor that modifies age at disease onset. The pattern of cognitive decline was similar in both families: early memory loss (initially selective for verbal memory in some individuals) was followed soon after by loss of arithmetic skills while naming and object perception skills were relatively preserved. A speech production deficit was observed in three members of one family but not in the other. Seizures were common and usually predated by myoclonic jerks by a number of years. Serial MRIs showed progressive cortical atrophy with periventricular white matter change appearing 3-4 years into the disease. PET revealed parieto-temporal hypometabolism in all individuals scanned. The diagnosis of Alzheimer's disease was confirmed with typical histopathology in one individual from each family.
Three cases of extensive vertebral fusions with absent clivo-axial angle are presented. The 'bone-within-bone' appearance in two patients with almost complete fusion of the spine suggested ossification of the notochord and perinotochordal sheath. On the basis of the radiological appearances and the results of recent molecular genetic studies on vertebrate embryos, the suggested time of segmentation failure along the axis of the craniovertebral junction and between vertebrae is the third to fifth week of gestation. The possible roles of the Pax-1 gene and of signalling between notochord and sclerotome are discussed, concluding that an early defect of the notochord may be responsible for this type of failure of segmentation. Indications for surgery in these cases included cord compression with brachialgia and 'chin-on-chest' deformity causing severely restricted visual fields. A critical review of clinical lessons learned in the operative treatment is presented.
PURPOSE: To investigate changes in hippocampal volume. METHODS: We used serial magnetic resonance imaging (MRI) in a patient who developed chronic epilepsy after having generalized tonic-clonic status epilepticus (SE). Five MRI investigations were performed during SE and a 58-month follow-up period. Hippocampal volumetric measurements and coregistration of scans were performed to detect hippocampal atrophy. RESULTS: During status both mesiotemporal regions returned a high signal on T2-weighted images. Two months after the onset of SE, bilateral hippocampal atrophy was detected. Further progressive hippocampal atrophy was detected in the subsequent 58 months by both hippocampal volumetric measurements and coregistration of scans. CONCLUSIONS: Our findings suggest that hippocampal atrophy is a process that may continue after the end of the SE.
PURPOSE: We tested the hypothesis that widespread extralesional abnormalities of cerebral structure exist in association with apparently isolated hypothalamic hamartomata, providing a structural basis for the poor response of seizures to removal of the hamartoma or other apparently focal epileptogenic zones present. METHODS: High-resolution magnetic resonance imaging (MRI) brain scans of 2 patients with hypothalamic hamartomata were quantified by determination of regional distribution and symmetry of distribution of cortical gray matter and subcortical matter volumes. The results were compared with normal ranges for the distribution of such tissues in 33 controls. RESULTS: Both patients had abnormalities of distribution of gray and subcortical matter, whereas control subjects did not. These abnormalities were beyond the hamartoma itself, in areas of cerebrum that on visual inspection alone appeared completely normal. CONCLUSIONS: Extralesional abnormalities of cerebral structure are present in the cerebrum of patients with hypothalamic hamartoma, as in most patients with other dysgeneses. These abnormalities may explain the poor outcome of epilepsy surgery in patients with this form of dysgenesis. These preliminary findings require further investigation.
Sixty-three adult patients with newly diagnosed partial seizures underwent MRI of the brain including hippocampal quantitation. Seventy-six percent of patients had normal MRI findings, 10% had hippocampal sclerosis (HS), and 14% had MRI abnormalities other than HS. Patients with HS had a worse early prognosis than patients with other MRI findings with respect to seizures. The extent of hippocampal damage appeared to be an important mediating factor in frequency of seizures, secondary generalization, and resistance to antiepileptic drug treatment. Because MRI provides prognostic information and can alter management for the individual patient, high-resolution MRI should be performed in all patients with newly diagnosed partial seizures.
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The hippocampal formation (HF) is known from pathological and magnetic resonance imaging (MRI) studies to become severely atrophied in established Alzheimer's disease (AD). This study examined whether changes in the HF could also be detected in very early AD by scanning subjects at risk of developing familial AD (FAD). Five at risk members of a pedigree with the amyloid precursor protein (APP) 717 valine to glycine mutation underwent serial MRI scanning with volumetric measurement of the HF as well as neurological and neuropsychological assessments. Over a period of two years two subjects became clinically affected, a loss of up to 20% of the volume of the HF occurred in the two years over which symptoms first appeared. Asymmetrical HF atrophy was shown to have been present before the development of overt symptoms. This may have important implications for early diagnosis in AD more generally.
BACKGROUND: Despite the use of high-resolution magnetic resonance imaging (MRI) in the demonstration of structural abnormalities underlying chronic partial epilepsy, a significant proportion of MRI scans in such cases still appear normal when viewed conventionally as two-dimensional images, especially in extratemporal epilepsies. OBJECTIVES: To increase the yield of MRI in patients with extratemporal epilepsies. To examine specific regions of three-dimensional surface renderings of the cerebral hemispheres. DESIGN: Postprocessing of volumetric MRI data was used to detect abnormalities of gyration that may not be seen otherwise. SETTING: Scans were obtained at a hospital clinical imaging facility. PARTICIPANTS: Sixty-four subjects were studied: 33 controls, 15 patients with hippocampal sclerosis (as disease controls), and 16 patients with cryptogenic partial epilepsy that on clinical grounds was extratemporal. MAIN OUTCOME MEASURES: Gyral patterns were evaluated for abnormality by visual comparison between subjects. RESULTS: Inspection of the routine two-dimensional images had failed to demonstrate relevant underlying neocortical abnormality in any of the patients' scans. Three-dimensional reconstruction revealed abnormal gyral patterns in the frontal lobe convexity in seven of the 16 cryptogenic clinically extratemporal cases. Macrogyria was revealed in one case and increased gyral complexity with altered disposition was seen in six cases. Similar gyral patterns were not seen in any subjects from the other groups. CONCLUSION: Three-dimensional analysis of volumetric MRI data can reveal structural abnormality that is not visible when the data are viewed as two-dimensional images only.
Volumetric measurement of the hippocampus is of use in localisation of lesions causing focal epilepsy and in lateralisation of epilepsy due to mesial temporal sclerosis. However, it is time consuming and requires specialised equipment. Hence, we compared volumetric measurement with visual detection of hippocampal asymmetry by five trained observers. MRI studies of 19 neurologically normal subjects and of 34 consecutive patients with epilepsy and hippocampal volume ratios below the lowest normal value were employed. Agreement between visual and quantitative diagnoses was 59% for all subjects (kappa = 0.38) and 65% for those with volumetric hippocampal asymmetry. Disagreements in visual and volumetric lateralisation of hippocampal asymmetry were relatively uncommon. Visual estimates of the extent of hippocampal involvement and the observers' confidence in the diagnosis influenced the accuracy of visual inspection. However, discordance in diagnoses occurred even when confidence in the visual diagnosis was high. Reliable visual detection occurred for hippocampal volume ratios below 0.7, suggesting that visual determination of hippocampal asymmetry is of greatest clinical value in the lateralisation of seizure foci in patients already selected for the presence of intractable temporal lobe epilepsy. Volumetric measurements are particularly important if hippocampal asymmetry is used for seizure localisation in groups of patients with temporal or extratemporal epilepsy.
A 30-year-old man with low back pain and gradual onset of cord compression was found to have a highly vascular extradural tumour in the lower thoracic region. Involvement of the right pedicle and a large part of the body of T9 suggested a vertebral haemangioma, but histology revealed haemangioblastoma. One case of an intraosseous haemangioblastoma has been described previously; we present the features of another case shown by MRI and discuss the differentiation between haemangioma and haemangioblastoma.
A pineal region meningioma without dural attachment is rare. We present a case and review 12 cases reported in the literature. The preoperative diagnosis is difficult, but a vertebral angiogram if correlated to the MRI and clinical picture may give a clue. The infratentorial supracerebellar approach is suitable for this type of tumour.
We report seven cases of rare high cervical split spinal cord associated with extensive vertebral fusions (Klippel-Feil anomaly). In light of previous embryological theories and recent research findings we attempt to explain the origin of split cord and vertebral fusions. Two distinctly separate mechanisms are suggested for the development of split cords observed in our cases: a midline lesion bisecting the neuroepithelium and the notochordal plate could be responsible for complete splitting of the cervical cord with anterior bony defect while a localized disturbance of cervical neural tube closure would account for cases with partial dorsal splitting of the cord with posterior vertebral defect. Vertebral fusion anomalies are likely to be associated with disturbance of Pax-1 gene expression in the developing vertebral column. We confirm with our cases the frequent association of failure of normal segmentation and split cord in the cervical region. Clinically, only three patients had neurological deficit which was mild and has remained stable, and they had no radiological evidence of tethering; the minimal disproportionate growth of the cord and spine and the rarity of a bony spur in the cervical region are the likely reasons. A conservative policy was therefore pursued in these cases with careful long-term follow-up.
The hippocampal formation (HF) is known from pathological and MRI studies to be severely atrophied in established Alzheimer's disease. However, it is unclear when the earliest changes in the HF occur. We performed a longitudinal study of asymptomatic individuals at risk of autosomal dominant familial Alzheimer's disease in order to assess presymptomatic changes in the HF. Seven at risk members of a familial Alzheimer's disease pedigree associated with the amyloid precursor protein 717 valine to glycine mutation underwent serial MR scanning and neuropsychological assessments over 3 years. These assessments were compared with results from 38 normal controls. During the study three at risk subjects became clinically affected. Volumetric measurement of the HF showed that asymmetrical atrophy developed in these subjects before the appearance of symptoms. Verbal and visual memory measures declined in parallel with hippocampal loss. A loss of up to 8% per annum of the volume of the HF occurred in the 2 years over which symptoms first appeared. These findings may have implications for early diagnosis of Alzheimer's disease.
Volumetric analysis of high-quality magnetic resonance imaging (MRI) scans identifies asymmetric hippocampal atrophy in most patients with temporal lobe epilepsy. However, bilateral hippocampal atrophy can be missed by unnormalized volume measures. We considered two patient groups with temporal lobe epilepsy, one with a history of febrile convulsions (FC, n = 14) and one with a history of encephalitis or meningitis (E/M, N = 12), to compare the prevalence of bilateral volume loss between the groups. A volume normalization process defines a normal range of hippocampal volumes in control subjects (n = 32). Normalized volumes indicated that 11 of 14 subjects with a history of FC had unilateral hippocampal atrophy and 9 of 12 subjects with a history of E/M had bilateral hippocampal atrophy as compared with the controls. Visual assessments of unilateral hippocampal atrophy (n = 17) correlated well with measured unilateral volume loss (n = 14 ), but visual assessment of bilateral hippocampal atrophy (n = 3) correlated poorly with measured bilateral volume loss (n = 12). Mean age at seizure onset was lower in the FC group (7 years) than in the E/M group (13 years), but other clinical features were similar between the two groups. Hippocampal volume normalization is necessary to detect bilateral volume loss, which is common in patients with a history of encephalitis or meningitis.
OBJECTIVE: To assess the diagnostic value of the fast FLAIR sequence in patients with epilepsy. METHODS: One hundred and twenty eight patients with epilepsy and 10 control subjects were scanned with the fast FLAIR sequence with 5 mm slices, a coronal gradient echo (GRE) T1 weighted sequence with 1.5 mm slices and spin echo (SE) or fast spin echo (FSE) proton density and T2 weighted sequences with 5 mm slices. All images were compared by an unblinded neuroradiologist and neurologist. Fast FLAIR images of patients with hippocampal sclerosis (HS) and normal control subjects were also evaluated by two blinded independent raters. RESULTS: Fast FLAIR provided a high conspicuity of neocortical damage, hamartomas, dysembryoplastic neuroepithelial tumours, and clear cut hippocampal sclerosis. However, the same information could be obtained from the coronal T1 and T2 weighted images. In three patients fast FLAIR showed a clearly abnormal signal when SE T2 weighted images had not been definitely abnormal. Heterotopia was less conspicuous on fast FLAIR than GRE T1 weighted images. The two blinded raters detected all but one of the patients with clear cut hippocampal sclerosis on fast FLAIR images but missed all borderline cases of hippocampal atrophy and there were two false positives. Clear cut hippocampal sclerosis was more conspicuous on fast FLAIR images than on SE T2 weighted images in most patients, but additional patients were not identified. CONCLUSION: Fast FLAIR has the advantage of identifying neocortical lesions and definite hippocampal sclerosis with a short scanning time and may also demonstrate lesions when other sequences are normal in a limited number of cases. The technique was not useful, however, for identifying mild hippocampal sclerosis or heterotopia.
In 17 patients (eleven males, six females) with Morquio-Brailsford syndrome (mucopolysaccharidosis IV) we have used onlay femoral and tibial autografts placed posteriorly and secured to the laminae of C1 and C2 to obtain satisfactory occipito-C1/C2 posterior fusion. They were immobilised postoperatively in a halo-plaster body jacket for four months. The age at operation varied between three and 28 years. Those with myelopathic symptoms of recent onset made some recovery, but severely myelopathic patients showed little or no recovery. We advise prophylactic occipitocervical fusion in these patients since the cartilaginous dens is not strong enough to ensure atlanto-axial mechanical stability.