MELAS: a family with paternal inheritance.
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Acidosis, Lactic↗
Biomedical subjects
H Carton
Publications and source records attributed to H Carton.
Human brain proton localized NMR spectroscopy in multiple sclerosis.
Localized proton spectroscopy of the brain was performed on MS patients (n = 18) and the results are compared with those of a control group (n = 17). The experiments were performed in a 1.5-T Siemens Magnetom using the stimulated echo method and selective water suppression. Acquisition parameters were TR/TE/TM = 3000/270/30 ms, NA = 256, and Acq = 13 min. Localized volumes ranged from 8 to about 80 cc. The patients (ages 25 to 66) were at various stages of the disease. Three of the eighteen patients did not show any plaques on the MR images. VOIs were chosen to contain as much plaque volume as possible in the cerebrum white matter. In the controls and in the patients with no plaques, the VOI were localized in similar white matter regions. All spectra were characterized by the presence of Cho (3.2 ppm), PCr + Cr (3.0 ppm), and NAA (2.0 ppm). The ratios NAA/Cho and NAA/(PCr + Cr) were calculated for both the MS and the control group. The results for the three MS patients with no detectable plaques did not differ significantly from the results of the control group. The former group is, however, too limited to draw any conclusion for the moment. For the MRI positive patients, the following values were found (means +/- 1 SD); NAA/Cho = 1.98 +/- 0.33 and NAA/(PCr + Cr) = 2.16 +/- 0.14. In the normals, these values were NAA/Cho = 2.54 +/- 0.39 and NAA/(PCr + Cr) = 2.76 +/- 0.25. The results quoted are TR and TE dependent.(ABSTRACT TRUNCATED AT 250 WORDS)
Adult↗
Magnesium deficiency as a cause of acute intractable seizures.
Clinical and experimental investigations have shown that magnesium depletion causes a marked irritability of the nervous system, eventually resulting in epileptic seizures. Although magnesium deficiency as a cause of epilepsy is uncommon, its recognition and correction may prove life-saving. Two case reports are presented which emphasize the importance of recognizing hypomagnesaemia in patients with acute intractable seizures.
Adult↗
Diagnostic significance of antinuclear antibodies in neurologic patients.
In a combined retrospective and prospective study, we tried to define the prevalence of antinuclear antibodies (ANA) and its clinical relevance in neurological patients. Three hundred twenty-seven neurological patients who had ANA determined because of suspicion of connective tissue disease (CTD), were retrospectively studied. Thirty (9.2%) were ANA positive, 20 (66%) of whom had CTD. Of 327 consecutively admitted patients, prospectively studied, 18 (5.5%) were ANA positive, 5 (28%) of whom had evidence of CTD. Systemic lupus erythematosus (SLE) was the most frequently diagnosed CTD. In a prospective study of 48 multiple sclerosis (MS) patients, only 1 had detectable ANA at a dilution of 1:40. Lupus anticoagulant (LA) was prospectively detected in 2 patients but was not associated with a vascular or autoimmune systemic disease.
Adult↗
Absence of Epstein-Barr virus activation in HTLV-I-associated tropical spastic paraparesis.
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Adult↗
Globoid cell leukodystrophy: a family with both late-infantile and adult type.
We present a patient with adult-onset globoid cell leukodystrophy (GBL) who had almost complete deficiency of galactosylceramide beta-galactosidase. A brother of the index patient deteriorated neurologically and died at the age of 4, probably from the late-infantile form of the disease. In this family, two clinical types of GBL are probably different expressions of an identical genotype.
Adult↗
Interleukin 6 production in the central nervous system during experimental autoimmune encephalomyelitis.
Interleukin 6 (IL6) is one of the major inflammation-associated cytokines. Elevated serum or tissue levels of IL6 have been reported to occur in several human diseases, including infections of the central nervous system (CNS), but not in non-infectious CNS inflammation, e.g. multiple sclerosis. While studying experimental autoimmune encephalomyelitis (EAE) as an animal model for autoimmune inflammation of the CNS, we found increased IL6 levels in the CNS of mice suffering from a lethal form of the disease. IL6 levels in the spleens and sera were not significantly increased. These findings are indicative of local production of IL6 in the CNS during EAE, and represent the first demonstration of IL6 production in non-infectious CNS inflammatory disease.
Animals↗
Polyneuropathy in lithium intoxication.
Two patients developed acute sensorimotor polyneuropathy after intoxication with lithium carbonate. Nerve conduction studies, electromyography, and sural nerve biopsy proved it to be an axonal neuropathy. Recovery of muscle strength, reflexes, and sensory function started weeks after discontinuation of lithium therapy. One patient fully recovered within a year. In the literature we found nine other cases of lithium polyneuropathy.
Adult↗
MR findings in globoid cell leucodystrophy.
The MR findings in an adult patient with globoid cell leucodystrophy (GLD) or Krabbe's disease are presented. MRI showed a bilateral periventricular hyperintensity of the parieto-occipital white matter on the T2-weighted images. A hyperintense signal was seen bilaterally along the corticospinal tract. There was no immediate nor delayed contrast enhancement. The MR findings in this case of GLD are rather atypical.
Adult↗
A cluster of HTLV-1 associated tropical spastic paraparesis in Equateur (Zaire): ethnic and familial distribution.
In Lisala, Equateur province, Zaire, 25 patients from 21 pedigrees were identified with human T-lymphotropic virus type 1 (HTLV-1) associated tropical spastic paraparesis (TSP). In the 10 (48%) pedigrees with additional genuine TSP cases established mainly by history, seven of 10 patients' mothers, no fathers or spouses, one of 59 surviving offspring, five of 105 siblings, and six other close blood relatives had TSP. A child may develop TSP before its mother. Three familial cases were in paternal relatives only. In total, 39 cases (11 men, 28 women) were identified in this population of about 50,000. Half were in the Mundunga minority of less than or equal to 10% (p less than 0.001). The data suggest maternal transmission of HTLV-1 and enhanced TSP susceptibility in those infected due to familial, probably genetic factors.
Adolescent↗
Serial magnetic resonance imaging studies with paramagnetic contrast medium: assessment of disease activity in patients with multiple sclerosis before and after influenza vaccination.
Eleven patients with a relapsing-remitting form of multiple sclerosis (MS) were examined clinically and with magnetic resonance imaging scans 3 weeks before, at the day of vaccination with killed influenza virus and 3 weeks afterwards. No exacerbations were noted in the pre- or postvaccination period. Eight contrast-enhanced or active lesions were present at the onset of the study. Three new active lesions appeared at the end of the prevaccination period while only 1 new active lesion was found at the end of the postvaccination period. We conclude that vaccination with killed influenza virus has no clinical or subclinical short-term effect on the activity of MS.
Brain↗
MRI in the diagnosis of Cockayne's syndrome. One case.
Computerized tomography (CT) and magnetic resonance imaging (RMI) showed cortico-subcortical atrophy as well as calcification of the basal ganglia and the cerebellar dentate nuclei in a patient presenting with cerebellar syndrome. RMI was particularly useful in imaging the demyelination of the periventricular white matter and the subcortical U fibres. A diagnosis of Cockayne's syndrome was made. This is an extremely rare hereditary disease of unknown pathogenesis. Defective recovery of DNA synthesis has been suggested.
Adult↗
Myasthenic syndrome caused by direct effect of chloroquine on neuromuscular junction.
Chloroquine induced a myasthenic syndrome in a patient taking the drug for presumable reticular erythematous mucinosis. Clinical features and results of single-fiber electromyography were typical for a failure of neuromuscular transmission, while peripheral nerves and muscles were intact on clinical, biochemical, electrophysiologic, and pathologic investigation. The time course of the clinical and electrophysiologic findings during provocation with chloroquine and the absence of autoantibodies indicate that the syndrome was due to a direct effect of the drug on the neuromuscular junction. While not taking chloroquine, the patient showed a decremental response on a modified double-step nerve stimulation test and a mean consecutive difference on single-fiber electromyography that was at the upper limit of normal, indicating a subclinical impairment of neuromuscular transmission. These findings can explain the apparent rarity of the syndrome described, as a direct effect of chloroquine on the neuromuscular junction may only have clinical relevance in patients with a reduced neuromuscular safety factor.
Adult↗
Clinical experience with Tc-99m HM-PAO high resolution SPECT of the brain in patients with cerebrovascular accidents.
In order to evaluate the diagnostic contribution of brain SPECT imaging with 99mTc-HMPAO in cerebrovascular disease, we examined 92 stroke cases (144 lesions), 2 hematoma cases and 30 cases with transient neurologic symptoms. Abnormal tracer distribution is visible as zones of either hypoactivity or hyperactivity (border zone hyperemia or luxury perfusion). Remote vascularization changes could also be found (crossed cerebellar diaschisis or ipsilateral cortical perfusion reduction in thalamic or capsula interna lesions). Both X-ray CT and blood flow SPECT have comparable sensitivity in the exploration of cerebral infarction, with detection in, respectively, 89.5% and 87.5% of the lesions. False negative scintitomographic images are frequently recorded in small lacunar infarcts within the basal ganglia and white matter (capsula interna). Some early infarcts and asymmetry of brain perfusion in patients with transient neurologic symptoms are frequently not detected by CT. An additional advantage of blood flow SPECT is its ability to visualize remote blood flow changes and the changing pattern of vascularization of ischemic lesions and their surrounding areas including hyperemia.
Brain↗
Listeria monocytogenes meningitis.
The history and findings of all patients with Listeria meningitis admitted to the University Hospital of Leuven from 1967 to 1987 were reviewed. Listeriosis during pregnancy or the perinatal natal period was not considered. Predisposing conditions in these 23 patients included renal transplants (9), immunosuppressive therapy (2), diseases of the lympthoreticular system (3) and chronic alcoholism (1). One man had an inversed T4/T8 ratio. In 7 patients no underlying disorder was detected. Disease onset may be acute or subacute. There are no clinical features distinguishing Listeria meningitis from other acute bacterial meningitides. The number of leukocytes in the CSF varied from 3 to 3700, most often with a predominance of mononuclear cells. A decrease of the glucose level in the CSF was not always present. The initial gram stain was often unrevealing and it took up to 4 days for CSF cultures to become positive. Blood cultures were often important for the identification of the organism.
Adolescent↗
Hypothermia in three patients with multiple sclerosis.
Hypothermia, defined as a core temperature less than 35 degrees C has multiple causes and several neurological consequences. The cases of three patients with definite multiple sclerosis since more than a decade are reported, who presented with several episodes of coma and hypothermia. Systematic neuropathologic examination of the hypothalamus in one case did not reveal any abnormality.
Adult↗
Neuropathological examination of the alterations of the intrinsic innervation in multiple sclerosis cystopathy.
Morphometric analysis of the innervation pattern of the stromal layer of the urinary bladder was done on biopsies from 88 patients with definite multiple sclerosis (MS). The biopsies were stained for acetylcholinesterase and for S100 protein, and a semiquantitative score was assigned. Nearly 30% of the samples showed increased immunoreactivity for S100, indicating Schwann cell hyperplasia. In 16% a decreased S100 immunoreactivity was found, the significance of which is unclear. More than 90% had normal acetylcholinesterase activity. No correlation could be demonstrated for age, sex, severity and duration of the disease, the presence of cystitis and type of detrusor dysfunction. The finding of altered S100 immunoreactivity in MS bladders could indicate that MS also affects the peripheral nervous system and is not limited to the central nervous system as classically described. This finding warrants further investigations.
Acetylcholinesterase↗
Tropical spastic paraparesis in Northeastern Brazil.
Ten possible cases of tropical spastic paraparesis (TSP) in Northeastern Brazil (Ceará) are presented. They show the typical symptoms and signs of TSP consisting of weakness of the lower limbs, spastic gait, hyperreflexia, bladder dysfunction and variable signs of posterior columns impairment. The laboratory examinations excluded other compressive, infective, degenerative or demyelinating lesions of their spinal cord. Our patients age ranged from 21 to 59 years, all were of black origin and all were of lower social class. There was a slight preponderance of females. An etiological implication of a retrovirus (HTLV-I) has been shown for TSP, but for lack of technical conditions we could not determine it in our patients, and that stands as our subsequent step in those and further cases.
Adult↗