Adrenoleukodystrophy. A case report demonstrating unilateral abnormalities

Adrenoleukodystrophy is a hereditary disorder characterized by progressive demyelination of cerebral white matter and adrenal insufficiency. Typical CT and MRI findings in the brain have been documented recently and consist of bilateral white matter abnormalities. We report the case of an 8-year-old boy whose CT and MRI scans showed unusually florid unilateral abnormalities.     

MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients

The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The images were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable before clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early stage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, and the signal intensity of the entire white matter was higher than that of the gray matter, which is the reverse of normal. This study showed that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical and histopathologic pictures of infantile neuronal ceroid-lipofuscinosis.     

Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients

We present the MRI findings in five patients with congenital muscular dystrophy (CMD) and merosin (laminin alpha2) deficiency, which was total in one and partial in four. In one patient with partial merosin deficiency, MRI was normal. The other four patients had supratentorial white matter abnormalities. In three, T2-weighted images revealed subcortical, deep lobar and periventricular high signal in white matter, while in the other there were only small peritrigonal areas of increased signal. On T1-weighted images, there was slightly low signal. Cortical abnormalities were absent. None of these changes were accompanied by symptoms or signs of central nervous system involvement. White matter abnormalities in a patient with CMD should prompt investigation of merosin.     

Neuroimaging and pathology of the spinal cord in compressive cervical myelopathy

Magnetic resonance imaging (MRI) has enabled us to see the spinal intramedullary pathology as differences in signal intensity. Intramedullary high intensity lesions were observed on T2-weighted MRI in patients with cervical spondylotic myelopathy (20.0%) and ossification of the posterior longitudinal ligament (OPLL) of the cervical spine (25.7%). The frequency of this findings was proportional to the clinical severity of myelopathy and degree of spinal cord compression. The pathophysiological basis of such signal abnormality was presumed to vary from acute edema to chronic myelomalacia. The intramedullary lesion on MRI is considered to be the main site of lesion responsible for the neurological symptom because of a good correlation between the neurological level and high intensity level. We found from nine autopsy cases of OPLL that there are distinct differences in severity and extent of pathological changes between the spinal cord with a boomerang-shaped cross-section and that with a triangular-shaped cross-section. In the boomerang-shaped cases, major pathological changes were restricted to the gray matter and the white matter was relatively well preserved. Secondary wallerian degeneration was restricted to the fasciclus cuneatus the fibers of which were derived from the affected segments. In the cases of a triangular shape, pathological changes were more severe, both white and gray matter were involved. There were severe pathological changes over more than one segment, and both descending degeneration of the lateral pyramidal tracts and ascending degeneration of the posterior column, including the fasciclus gracilis, were observed. In conclusion, it is clinically very important to understand the pathological basis of the compressed spinal cord on neuroimages.     

Hypoxic-ischaemic encephalopathy: early and late magnetic resonance imaging findings in relation to outcome

Sixteen infants with hypoxic-ischaemic encephalopathy (HIE) were studied using serial magnetic resonance imaging (MRI) up to the age of 2 years. The infants had regular neurological and developmental assessments. An nuclear magnetic resonance (NMR) score was devised to quantify the early and late MRI findings and a neurological optimality score was used to quantify abnormal neurological signs at the time of the final examination. The follow up MRI score was compared with the neonatal MRI score and the outcome of the child. There was a strong positive correlation between the neonatal and follow up MRI scores and between MRI scores and optimality score. All infants with a normal outcome had patchy white matter abnormalities. All infants with an abnormal outcome had extensive white matter abnormalities. The outcome was most severe in those infants with additional basal ganglia atrophy with or without cyst formation. Infants with mild HIE who are developmentally normal at the age of 2 years do not have normal MRI scans and may be at risk of minor neurological problems by school age. Bilateral basal ganglia abnormalities are associated with severe developmental delay, but infants with mainly white matter and cortical abnormalities have less severe problems despite extensive tissue loss.     

Brain disease and molecular analysis in myotonic dystrophy

Abnormal amplification of a CTG repeat on chromosome 19 is the molecular basis of myotonic dystrophy (DM). Expansion of the repeat has been correlated with severity of several clinical features of the disease. We performed extensive cognitive testing, cerebral magnetic resonance imaging (MRI) and a molecular analysis in 28 cases of DM to determine the relationship between the molecular defect and brain disease. Performance in two or more cognitive tests was pathological in 10 cases. Fourteen patients had subcortical white matter lesions on MRI, 14 had cerebral atrophy. Amplification of the CTG repeat showed a strong correlation with cognitive test deficits when exceeding a length of over 1000 trinucleotides. MRI lesions were associated with impaired psychometric performance, but MRI and molecular findings were only weakly related. Disease duration influenced the appearance and amount of white matter lesions on MRI. Quantification of CTG repeat size may allow an early estimate on the probability of brain involvement in DM; cognitive dysfunction is associated with white matter lesions and cerebral atrophy later on in the course.     

Complete transposition in a chick embryo demonstrated by scanning electron microscopy

The white matter lesions in a patient with late adult onset dentatorubropallidoluysian atrophy (DRPLA) were studied in detail by MRI using the fluid attenuation inversion recovery (FLAIR) technique. The patient was a 60 year old woman with a family history of DRPLA, in whom the number of CAG repeats in the DRPLA gene on chromosome 12 was expanded to 59 (normal allele 10). In addition to atrophy of the cerebral cortex, cerebellum, and pontomesencephalic tegmentum, the cerebral white matter and a part of the white matter tracts within the brainstem showed prominent high signal intensities on FLAIR images. These MR findings suggest that, in addition to the degeneration of the dentatorubral and pallidoluysian systems, the pathological process extends to the white matter in DRPLA. This could be important for differentiating DRPLA from other clinically similar diseases such as Machado-Joseph disease or Huntington's disease.     

Familial leukoencephalopathy in bipolar disorder

OBJECTIVE: Imaging studies of patients with bipolar disorder demonstrate changes in deep white matter and subcortical gray nuclei that are seen as focal hyperintensities on T2-weighted magnetic resonance imaging (MRI). The objective of this study was to examine MRIs in a family with a strong history of bipolar disorder to look for possible MRI abnormalities in members with and without affective illness. METHOD: The authors obtained MRIs of 21 members of a family with a strong history of bipolar disorder. Eight of the family members studied had bipolar illness, one had symptoms of bipolar disorder but did not meet full DSM-III-R criteria, two had unipolar disorder, and 10 did not have bipolar disorder. RESULTS: Fifteen of the 21 family members had MRI findings, including six of 10 family members who had no affective disorder and all of those with bipolar disorder. Lesions of both white matter and subcortical gray nuclei were found. CONCLUSIONS: Although the clinical significance of these MRI findings is unknown, the high prevalence of MRI findings in both affected and unaffected family members suggests that MRI findings may potentially serve as a biological marker for bipolar disorder. Recent genetic studies have established a link between familial leukoencephalopathy and chromosome 19. If leukoencephalopathy appears to be related to bipolar disorder, it may allow clearer characterization of the genetics of the disorder.     

Radiological diagnosis of viral encephalitis

Most of viral encephalitis may demonstrate no specific change on CT and MR images. Brain swelling, edema, abnormal density (CT) and abnormal intensity (MR) can be detected in herpes simplex encephalitis and enterovirus encephalitis (coxsackie, echo, polio). The common finding on CT and MRI in patients with HIV encephalopathy are atrophy, leukomalacia. Progressive multifocal leukoencephalopathy (PML) shows multifocal oval or round white matter T2-hyperintensities on MR images. Subacute sclerosing panencephalitis (SSPE) may present slight changes in the subcortical and periventricular white matter, as well as basal ganglia. Progressive disorder makes widespread T1-low, T2-high intensity area and atrophy. MRI of acute disseminated encephalomyelitis (ADEM) shows multifocal subcortical hyper intense foci on T2-weighted studies. The deep white matter, brainstem, thalamus and cerebellum can be affected. Most of ADEM lesions resolve. Imaging findings of acute lymphocytic meningitis by echovirus and coxsackievirus are usually normal.     

Neurological and neuroradiological findings in long-term survivors of allogeneic bone marrow transplantation

The aim of this study was to assess neurological, neuropsychological, and neuroradiological findings in long-term survivors of allogeneic bone marrow transplantation (BMT) who were recruited from a hematological outpatient clinic. In addition, risk factors for the development of late neurological complications were identified. In contrast to previous studies on autopsied patients, our study design provoked a bias away from increased neurological sequelae, because patients with early complications after BMT were excluded. Fifty-nine allogeneic patients and 7 autologous BMT patients underwent clinical examination, short neuropsychological testing, and cranial magnetic resonance imaging (MRI) 34 +/- 26 months after BMT. The pathological results of the neurological examination (abnormal 64%) and the MRI examination (white matter lesions, 54%; atrophy, 11%) were associated with the occurrence of chronic graft-versus-host disease (GvHD) evolving from acute GvHD, with corticosteroid therapy and with cyclosporine medication. Neuropsychological impairment (cognitive deficits, 37%) was associated with long-term cyclosporine medication and age. No influence of pre-BMT disease, BMT donor status, or the conditioning regimen was found. These results suggest that the frequent neurological abnormalities in long-term survivors of allogeneic BMT are associated with chronic GvHD and with the resulting immunosuppression as major risk factors.     

A 44-month clinical-brain MRI follow-up in a patient with B12 deficiency

We report a 51-year-old woman with vitamin B12 deficiency who presented with slight megaloblastic anemia and severe neurologic deficits associated with multiple focal and confluent T2-weighted white matter hyperintensities on brain MRI. Forty-four months after initiation of hydroxocobalamin therapy, there was clinical improvement and striking reduction in the MRI abnormalities. B12 deficiency should be considered in the differential diagnosis of neurologic disorders associated with multiple areas of white matter hyperintensities on T2-weighted brain MRI.     

MR of the brain in Sj?gren-Larsson syndrome

Cerebral MR was performed in three patients with Sj?gren-Larsson syndrome. In each case, a 1.5-T system was used, and the patient was under general anesthesia. The MR findings included confluent hyperintense white matter lesions in the periventricular and deep white matter of the centrum semiovale, with sparing of the subcortical U fibers. The topography of the white matter abnormalities correlated well with the clinical signs and symptoms.     

A case of adult type adrenoleukodystrophy with an acute onset and repeated episodes of ataxic dysarthria

We report a 30-year-old man with adult type adrenoleukodystrophy (ALD) who manifested an acute onset and repeated episodes of ataxic dysarthria. He noticed a moderate dysarthria after a high grade fever in February of 1995; however, two weeks later his symptom disappeared completely. Three months later, he noticed the dysarthria again and he was referred to our hospital for further examination. General physical findings on admission revealed a dark skin color, pigmentation of gingivae and reduced body hair. Neurologically he was normal except for a moderate ataxic dysarthria. Cranial T2-weighted MRI showed multiple high intensity lesions in the subcortical white matter of frontal lobe, bilateral peritrigonal white matter, splenium of the corpus callosum and bilateral cerebellar white matter. Only cerebellar lesions responsible for his symptom were enhanced on MRI after gadolinium administration. Initially we diagnosed him with multiple sclerosis (MS) based upon the clinical course and MRI findings, and then started corticosteroid treatment. His dysarthria was slightly improved after the treatment and bilateral gadolinium-enhanced lesions of cerebellar white matter on MRI disappeared. Multimodality evoked potentials such as short latency somatosensory evoked potentials, brainstem auditory evoked potentials and pattern-reversal visual evoked potentials, disclosed a prolonged central conduction time associated with bilaterally symmetric individual interpeak latencies. These findings, which supported diffuse and bilateral subclinical demyelinating lesions in the central nervous system, were unusual for MS; therefore his plasma very-long-chain fatty acids (VLCFA) were assayed for ALD. Finally, he was diagnosed with adult type ALD because of the high ratio of C26: 0/C22: 0 (0.075; normal 0.033). It is very difficult to clinically distinguish the early stage of adult type ALD especially in patients like this from MS. Therefore it is useful and important to evaluate not only the level of plasma VLCFA, but also to evaluate multimodality evoked potentials.     

von Willebrand factor, tissue plasminogen activator, and dehydroepiandrosterone sulphate predict cardiovascular death in a 10 year follow up of survivors of acute myocardial infarction

Earlier reports on T2-weighted magnetic resonance imaging (MRI) in the classical form of Pelizaeus-Merzbacher disease seemed to divide the patterns of the high-intensity lesions in the white matter into three subtypes: type I, diffusely hemispheric and corticospinal; type II, diffusely hemispheric without brainstem lesions; and type III, patchy in the hemispheres. The four boys presented in our study, between 10 and 17 years of age, with classical Pelizaeus-Merzbacher disease, who all had a duplicated proteolipid protein gene, invariably manifested type I despite their various clinical severities. Follow-up MRI after an interval of 5 years and proton magnetic resonance spectroscopy was performed in three of the patients. The white matter on the last MRI was unchanged in volume and the distribution of high-intense areas. Proton magnetic resonance spectroscopy revealed no abnormal peaks. These results were consistent with the lack of definite neurologic regression in the last 5 years and with the pathologic characteristics of well-preserved axons and the absence of sclerosis. Further study is required to precisely determine whether the patterns of MRI findings can be divided into subtypes corresponding to those of proteolipid protein gene abnormalities.     

Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases

Cortical visual impairment (CVI) following bacterial meningitis is a very uncommon complication. Two children with CVI following bacterial meningitis are reported. Bacterial agents were Haemophilus influenzae type B in one and meningococci in the other child. Both children showed only insufficient recovery from CVI, mental retardation and residual neurological symptoms. Flash visual evoked potentials (VEP) showed preserved cortical response at onset of CVI. Re-evaluations several months later showed significantly reduced amplitudes, but normal latencies for P100. Thus, flash VEP does not allow prediction of visual outcome. MRI results have not been reported before. MRI at onset of diagnosis showed occipital parenchymal irregularities with enlarged sulci and subarachnoid spaces. Follow up MRI 15 months after onset of CVI in one patient showed marked atrophy of the occipital cortex, hyperintensities of the cortical white matter and no visible optic radiation. The MRI findings indicate hypoxic-ischaemic lesions in the border zone between the distribution of the great cerebral arteries.     

Magnetic resonance in HTL-I associated myelopathy. Leukoencephalopathy and spinal cord atrophy

Cerebral white matter lesions and spinal cord atrophy have been frequently reported in patients with HTLV-I associated myelopathy (HAM). The exact frequency and the clinical relevance of these findings still remain to be elucidated. Twenty-nine patients with HAM were studied by magnetic resonance imaging of the brain and spine. Cerebral white matter lesions equal or over 3 mm in diameter were considered abnormal. The spinal cord size was evaluated using an index we have called "spinal cord index". The radiological findings were correlated to the clinical features of the myelopathy. Cerebral white matter lesions occurred in 52% of the patients, and spinal cord atrophy in 74%. There was no significant correlation between these abnormalities and the clinical features studied. These findings suggest that the resonance imaging is a useful method for detection of cerebral and spinal cord abnormalities in HAM patients. The absence of correlation between cerebral white matter lesions and either patient age or risk factors for cardiovascular disease suggests a possible association between the leukoencephalopathy and the infection.     

Etiology and epidemiology of anal incontinence

In twenty-five patients with a clinical diagnosis of suspected sacroiliitis conventional radiography, CT and MRI were performed. In ten patients no abnormalities were demonstrated. In thirteen cases CT and MRI revealed sacroiliitis. In two patients with normal plain films and CT para- and intraarticular changes of signal intensity suggested suspicious sacroiliitis. MRI can be considered as an important imaging modality for early diagnosis of sacroiliitis. In eighteen patients with a firm diagnosis of ankylosing spondylitis and plain films of the thoracolumbar junction suggesting destructive Romanus and Anderson inflammatory lesions MRI was done. Two distinct groups of inflammatory changes were found. In ten patients MRI findings compatible with active inflammatory enthesitis were revealed at the disco-vertebral junction. In eight cases focal and linear changes of signal intensity within the intervertebral disks suggested an active inflammation. Using MRI the spectrum of inflammatory changes in sero-negative spondylitis can be presented. In sixteen patients with definite clinical diagnosis (psoriatic arthritis--thirteen cases and Reiter's syndrome--three cases) plain films and MRI of small hand joints were performed. The patients fell into two distinct groups. In the first MRI findings could not be differentiated from those seen in rheumatoid arthritis. In nine cases the distribution and extent of soft tissue findings were different, similar to changes seen in enthesitis. Therefore, on the basis of MRI findings in small peripheral joints easier differential diagnosis between sero-negative spondyloarthritides and rheumatoid arthritis is possible. In five patients with a diagnosis of Reiter's syndrome having clinical signs of enthesitis plain films and MRI of calcaneus were done. MRI revealed findings compatible with active inflammation which resembled those seen at the attachment of the annulus fibrosus and collateral ligaments of the small hand joints.     

Pre-and post-mortem MR imaging of unsuspected multiple sclerosis in a patient with Alzheimer's disease

A patient with the clinical diagnosis of Alzheimer's disease is presented in whom pre-mortem T2-weighted MRI revealed a periventricular white matter lesion. Postmortem T2 weighted MRIs of the formalin fixed brain revealed the same white matter lesion. Microscopically, classical Alzheimer changes were found and, unsuspectedly, the histopathological correlate of the white matter lesion proved to be an old, inactive, MS plaque. A similar lesion was discovered in the cervical myelum. These findings illustrate that T2-weighted post-mortem MRIs are highly comparable to pre-mortem images and that MRI is sensitive in detecting clinically silent white matter lesions. The histopathology of such lesions may also include MS plaques.     

Anterior temporal white matter lesions in myotonic dystrophy with intellectual impairment: an MRI and neuropathological study

We studied 12 patients with myotonic dystrophy using MRI and the Mini-mental state examination (MMSE), to see it specific MRI findings were associated with intellectual impairment. We also compared them with the neuropathological findings in an autopsy case of MD with intellectual impairment. Mild intellectual impairment was found in 8 of the 12 patients. On T2-weighted and proton density-weighted images, high-intensity areas were seen in cerebral white matter in 10 of the 12 patients. In seven of these, anterior temporal white-matter lesions (ATWML) were found; all seven had mild intellectual impairment (MMSE 22-26), whereas none of the four patients with normal mentation had ATWML. In only one of the eight patients with intellectual impairment were white-matter lesions not found. Pathological findings were severe loss and disordered arrangement of myelin sheaths and axons in addition to heterotopic neurons within anterior temporal white matter. Bilateral ATWML might be a factor for intellectual impairment in MD. The retrospective pathological study raised the possibility that the ATWML are compatible with focal dysplasia of white matter.