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The patients belonged to three different families and were products of consanguineous marriage. The neurological symptoms and signs in these patients began in infancy or childhood and included gait disturbance, horizontal nystagmus, distention tremor of the hands, muscular wasting and sensory impairment of the hands and legs. CT-scan and/or MRI showed atrophy of the cerebellum. Serum biochemical analyses revealed hypoalbuminemia with hyperlipidemia. There were no abnormalities in the heart, liver, kidney, gastrointestinal tract, or endocrine systems. The autopsy revealed degenerative changes in the spinal cord including posterior column and lateral pyramidal tract, as well as in the peripheral nerves and cerebellar cortex. Although we have speculated that the disease presented here would be a clinical variants of Friedreich's disease, it would make a new clinical entity because there was no report about the association to hypoalbuminemia and hyperlipidemia with spinocerebellar degeneration.
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PMID:[A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia--a variant form of Friedreich's disease or a new clinical entity?]. 129 49

Adrenomyeloneuropathy (AMN), a clinical variant of child adrenoleukodystrophy (ALD), is an adult-onset progressive disorder which presents spastic paraparesis with peripheral nerve involvement and affects mainly the pyramidal tracts from the brainstem to the spinal cord. We report a case of AMN in which serial MRI showed unusual development of areas of high signal in the right striatum. The patient was in good health until the age of 12, when he began to lose his hair. At age 25 he started to have progressive gait disturbance and erectile impotence. In his first admission to our hospital at age 33, he showed diffuse baldness. He was intelligent but childish. His cranial nerves were normal. Muscle strength was weak (3-4/5) in the lower extremities. Deep tendon reflexes were hyperactive in the lower extremities while normal in the upper extremities. Babinski signs were elicited bilaterally. Pinprick and vibratory sensation was impaired in the lower legs. Proprioceptive sensations were normal. Co-ordination was intact. There were urinary incontinence and impairment of erection with preserved libido and ejaculation. Routine laboratory data including hematological studies, serum chemistry and urinalysis were all normal except for mild hyperlipidemia. Serum cortisol response to ACTH was low and serum levels of very long chain fatty acids were increased. Nerve conduction studies were abnormal and consistent with peripheral polyneuropathy. A biopsy specimen of left sural nerve revealed a mild loss of myelinated fibers with thinning of the myelin. These findings and the clinical features confirmed the diagnosis of AMN. MRI in SE2000/40 scans at age 34 disclosed areas of high signal in the bilateral internal capsules.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Striatal involvement on MRI in adrenomyeloneuropathy]. 165 65

A 47-year-old woman was evaluated for congenital dwarfism, primary amenorrhoea due to hypogonadotrophic hypogonadism, severe hyperlipidaemia with pancreatitis, and overt diabetes mellitus associated with severe insulin resistance requiring 2.5-3 units of insulin per kilogram body weight. Chromosomal analysis with trypsin banding was normal and biochemical evaluation revealed low oestrogen levels, inappropriately low gonadotrophins, very low IGF-I concentrations and GH concentrations unresponsive to insulin or L-dopa administration. Prolactin, pituitary-adrenal and pituitary-thyroid axes were normal. Dynamic testing with GnRH and GHRH produced increases in FSH, LH and GH concentrations. A MRI of the brain revealed no discernible hypothalamic abnormalities and a small pituitary. The presence of congenital combined growth hormone and gonadotrophin deficiency on the basis of a suprapituitary defect suggests the existence of common or related pathways regulating GnRH and GHRH synthesis or secretion and may have contributed to the ultimate development of insulin resistance and hyperlipidaemia.
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PMID:Isolated combined growth hormone and gonadotrophin deficiency due to hypothalamic dysfunction, associated with insulin resistance. 755 20

We studied risk factors and the relationship of lacunes to diabetes mellitus, age, hypertension, hyperlipidemia, atherosclerosis and also to intellectual impairment, comparing brain MRI (magnetic resonance imaging) findings to the multiple risk factors and the results of a cube-handdrawing test. Brain MRI was performed using a Shimazu SMT-150, 1.5 Tesla, in 118 asymptomatic NIDDM and 39 asymptomatic nondiabetic patients. In diabetics, 65 had lacunes and the incidence of lacunes was significantly higher in diabetics with coronary insufficiency by ECG and hypertension, but not significantly different in those with or without the other risk factors. Cube hand-drawing is a good indication of space cognition ability supported by the wide association areas of the brain. Drawing was tested in 41 diabetics and 39 nondiabetics. Correlation of lacunes to deformity in drawing and age was high in both diabetics and nondiabetics. Multiple lacunes were closely related to intellectual impairment.
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PMID:Asymptomatic lacunes and their relationship to intellectual disturbances. 791 15

Vascular dementia is seen much more often in people at age 85 than in those between the ages of 55 and 75. The differential diagnosis includes Alzheimer's disease and mixed dementia. The classic criteria for vascular dementia--stepwise deterioration and focal neurologic signs--are important, as focal neurologic signs usually don't occur in Alzheimer's disease. Identifying a significant number of points on the Hachinski scale, including hypertension, can help make a diagnosis of vascular disease. For more effective differential diagnosis, CT or MRI can be useful. However, not all clinicians are convinced of the necessity of imaging, as long as stroke risk factors such as hypertension and hyperlipidemia are managed for all older patients.
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PMID:Vascular dementia: how to make the diagnosis in office practice. 825 93

Statistically identified information on the relationships between the sites of lesions in intracerebral hemorrhage (ICH), risk factors such as a smoking or drinking habit, anamnesis, and biochemical data through blood tests will extend assistance to neuromedical clinicians on their daily clinical duties. It will provide them with a useful guide to determine the method of treatment. Also, it will be a basic research material for their clinical studies on diagnosis, progress, or prognosis in ICH. In order to obtain such statistics with the help of the computer, we need to have a computationally effective image database system. As is generally known, medical image data especially requires a great amount of storage; high-speed processing techniques are therefore also needed to deal with such data effectively. In addition, it is desired that we have outputs from the analysis edited with well-visualized effect, using 3D computer graphics, etc. These are why most existing image processing systems have been designed to work on comparatively large-scale computers. So far as we know, it is hard to find a practical and inexpensive personal computer-based application system for visualized statistical analysis of lesional images in ICH. We have developed a desk top computer-based program for statistical analysis of lesional image data of ICH. With this system, we can organize a medical image database that consists of the personal data of patients with ICH (sex, age, occupation, diagnosis, symptoms, part of physical disorder, etc.), risk factors, anamnesis (cerebral apoplexy, hypertension, hypotension, corpulence, diabetes, hyperlipidemia, atrial fibrillation, valvular endocarditis, etc.), biochemical data of blood, and lesional image data from CT or MRI. This system consists of the following components: 1) database management, 2) information retrieval (IR), 3) lesional image processing, 4) statistical analysis, and 5) prognostic prediction. The images are drawn manually on prescribed data sheets by tracing CT or MRI films and are read through the image scanner; then the compressed data of the digitized images is recorded in the database. Each recorded image data consists of the following two components: the frame image that corresponds to the contour of tissues of interest on the corresponding sliced section, and the actual image that corresponds to the lesion itself. In our system, these two images are separately stored and managed so that we can effectively perform subsequent image analysis. Other variables in the database (risk factors, anamnesis, etc.) are mainly used as search keys for making the aggregate of image data by the IR subsystem. In any aggregate, its elements, namely image data, have common medical background descriptions with the search keys. These aggregates can be used as input for the lesional image processing subsystem. With this subsystem, we can obtain the accumulated distribution of frequencies within a specified range of any sliced section, display planar color maps and profiles associated with the distribution, reconstruct it in 3D form, perform transformations of 3D images (zooming, enhancement, rotation, etc.), and test the significant difference of frequencies between any two different sites. We have been making practical use of this system to find the neurological relationship between the symptom (dysarthria, and paralysis of upper/lower limbs) and the site of lesion with cerebral infarction in pons. This study is quite important since the distributions of pyramidal tract related to the above symptom in pons are not well-known compared to those in cerebral cortex, internal capsule, or cerebral peduncle. With our system, we have obtained several findings expected to be helpful for this study. However, since this study is still in the initial phases, we will only present the outcome as a working example of our system. Our system was originally developed for analyzing lesional images with ICH. However, it could
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PMID:A desk top computer program for visualized statistical analysis of lesional images in intracerebral hemorrhage. 859 83

Acute infarction confined to the territory of the white matter medullary arteries is a poorly characterised acute stroke subtype. 22 patients with infarction confined to this vascular territory on CT and/or MRI were identified from a series of 1,800 consecutive admissions to our stroke unit (1.2%) between August 1993 and March 1997. 19 patients had small infarcts (< 1.5 cm maximum diameter) and 3 large infarcts (> 1.5 cm). Small infarcts were associated with a history of smoking (69%), hypertension (58%), and hyperlipidaemia (37%), and less frequently with atrial fibrillation (21%). Significant (>50%) ipsilateral carotid stenosis (16%) was a less frequent finding in this group. Patients most commonly presented with weakness and/or sensory disturbance affecting mainly the upper limbs, but dysarthria, dysphasia, and ataxia were also seen. Large infarcts were infrequent in our series, but did not differ significantly from small infarcts with respect to clinical presentation or risk factor profiles (p > 0.05 for all comparisons). The majority of symptomatic patients with white matter medullary infarcts are associated with small (< 1.5 cm diameter) lesions and a risk factor profile consistent with small vessel disease. More data are required to elucidate the mechanism of larger (> 1.5 cm) infarcts. Because of the potential overlap between white matter medullary infarcts and internal watershed infarcts, suggested criteria for each are presented.
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PMID:White matter medullary infarcts: acute subcortical infarction in the centrum ovale. 971 27

A 52-year-old man with diabetes mellitus, hyperlipidemia and smoking habit, experienced transient ischemic attacks (TIAs) with symptoms of left orbital pain, left blepharoptosis and hoarseness lasting for five minutes on March 10, 1997. Subsequently, the same symptoms repeated once or twice daily. On March 28, he had dysphagia, numbness and disturbance of pain and temperature sensation (segmental dissociated sensory disturbance) on the right side of the body above the level of the Th10, the right upper limb and face. The deficits persisted for more than 24 hours. Angiographic studies revealed an occlusion of the left vertebral artery immediately after branching of the posterior inferior cerebellar artery. MRI demonstrated a hyperintense lesion on MRI T2 weighted image in the left lateral medulla. About three months after the completed stroke, he had six episodes of TIAs of left Horner's sign and hoarseness. To our knowledge, this is the rare case that had frequent TIAs presenting the Wallenberg syndrome before and after the onset of lateral medullary infarction. We speculate that the TIAs resulted from microembolism from the proximal end of occluted left vertebral artery and failure of the microcirculation in and around the lateral portion of the medulla oblongata.
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PMID:[A case with frequent episodes of transient ischemic attack presenting the Wallenberg syndrome before and after the onset of brain infarction]. 1042 53

A 15-year-old woman with a history of transient dysarthria two years before, suddenly developed weakness of right upper extremity, right facial palsy, and dysarthria. She was admitted to our hospital on the third day. She had no hypertension, heart murmur and oedema. On neurological examination, she had mild right hemiparesis including face muscles and mild dysarthria. The right knee jerk was brisk with no Babinski's sign. Ataxia and sensory disturbance were not present. T2-weighted MRI showed a hyperintensity at the posterior limb of the left internal capsule. Cerebral angiography was unremarkable. Ultracardiography and 24-hour electrocardiography were normal. Laboratory data revealed no inflammatory findings, liver dysfunction, hyperglycemia and hyperlipidemia. Antinuclear and anticardiolipin antibodies were negative. Prothrombin time was normal, but activated partial thromboplastin time was slightly prolonged (35.4 sec, normal 25.2-34.4). Protein C, protein S and antithrombin III were normal. Heparin cofactor II (HC II) activity was decreased (44%) with normal HC II antigen (79%) and so she was diagnosed as heparin cofactor II deficiency type II (heparin cofactor II abnormality). Her father manifesting thromboangitis obliterans also had low HC II activity with normal HC II antigen. However, on her genetic analysis, we didn't detect any mutations in the coding region of HC II gene. Until now she has no recurrence of cerebrovascular attacks. On the basis of these results, we suspect that HC II deficiency was a possible risk factor of cerebral infarction in this case because she was so young and had no general risk factors except for HC II. No stroke associated with HC II deficiency type II has been reported up to date. This case is worth considering etiologies of juvenile cerebral infarction.
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PMID:[Juvenile cerebral infarction associated with heparin cofactor II abnormality. A case report]. 1096 62

Involvement of the central nervous system is uncommon in progressive systemic sclerosis, with only 2 reported cases associated with intracerebral hemorrhage detected by neuroimaging. A 55-year-old woman with a 10-year history of scleroderma presented with left occipital lobe hemorrhage manifesting as headache and vomiting. She had no signs of hypertension, diabetes mellitus and hyperlipidemia. CT and MRI, on admission, showed left occipital lobe hemorrhage with ventricular rupture and acute left subdural hematoma. Serial cerebral angiography was performed on day 0, day 7 and day 14, and found no evidence of aneurysm, arteriovenous multiformation or tumor stain in the left occipital lobe. However, the bilateral anterior cerebral arteries showed increasing segmental narrowing suggestive of vasculitis. Histological examination of a section from the brain cortex adjacent to the hemorrhage revealed no evidence of vasculitis, fibrinoid degeneration or amyloid deposition. Focal vasculitis may have occurred secondary to the homorrhagic lesion.
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PMID:[A case of left occipital lobe hemorrhage in a patient with progressive systemic sclerosis: evaluation of cerebral angiography and histology]. 1112 85


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