We report the case of a 68-year old woman complaining of disorders of memory and persistent headaches in whom the diagnosis of Waldenström's macroglobulinaemia (WM) was made. Computerized tomography of the brain showed a butterfly-shaped hyperdensity in the splenium of the corpus callosum, with ventricular dilatation. Magnetic resonance imaging displayed high-intensity signals on T2-weighted sequences. Protein immunoelectrophoresis elicited an IgM kappa peak. The CSF was found to contain proteins and lymphocytes in excess, and immunohistochemical staining confirmed the predominance of anti-kappa and the presence of intrathecal IgM secretion. Chemotherapy was temporarily effective on the memory disorders, but the patient died 26 months after the beginning of treatment. Central nervous system manifestations are seldom observed in WM, and they are now grouped under the name of Bing-Neel syndrome. Psychic disorders are rarely reported. It is suggested that IgM secretion plays a predominant role in the pathogenesis of leucoencephalitis, and this is supported by the finding of intrathecal IgM synthesis.

Aged↗

PubMedDate not supplied

[Mitochondrial cytopathies].

Mitochondrial cytopathies are diseases due to a defect of mitochondrial respiratory chain and are characterized by the presence of morphological abnormalities of mitochondria (ragged red fibers). The clinical manifestations can be polymorphic as various organs may be involved; but in general, these disorders affect either muscle alone (progressive external ophtalmoplegia, myopathy with weakness) or muscle and brain (encephalomyopathies). Some of these diseases may be due to alterations of the mitochondrial genome. Diagnosis can be achieved through the following steps: measurement of lactate, pyruvate and ketone bodies after fasting followed by a carbohydrate rich meal and/or exercise; histological examination and biochemical investigation of a skeletal muscle biopsy; study of possible mitochondrial genome alterations.

Humans↗

PubMedDate not supplied

[Electro-clinical aspects of leucinosis].

Maple syrup urine disease, or leucinosis usually presents between the 4th and 10th day of life with neurological and gastro-intestinal symptoms. A distinctive odour of maple syrup on the child's skin or of his urine enables diagnosis to be made clinically, confirmation coming from amino-acide chromatography which reveals increased levels of the branched amino acids, leucine, valine and isoleucin in the blood and urine. The disease, untreated, is fatal, death occurring rapidly. With early diagnosis and treatment with a diet deficient in branched amino acids and purification methods the prognosis is quite good. E.E.G. appearances are clearly, therefore, of considerable interest: --burst suppression or "pseudo burst suppression" in the acute phase, suggesting severe cerebral insult and warranting amino acid chromatography. --rolandic "picket fence" waves seen between the 2nd and 4th weeks of life, which are strongly suggestive of the disease. --good correlation between clinical, biochemical and E.E.G. parameters, improvement of the last two indicating a good prognosis. --E.E.G. observation at regular intervals is justified after the acute phase to aid forecasts concerning the eventual outcome.

Cerebral Cortex↗

PubMedDate not supplied

[Clinical and electrophysiological aspects of the gangliosidoses (author's transl)].

The gangliosidoses belong to the family of diseases known as the lipidoses and are due to an excess of ganglioside I (GM1) or II (GM2). The illness described by Landing belongs to Group I, whilst Tay-Sachs and Sandhoff's disease are type 2. This study was particularly concerned with the electro-clinical aspects of group 2, and 4 stages have been differentiated: --the first occurs between 4-10 months: the child is apathetic, hypotonic and has occasional audiogenic seizures; fundoscopy revealing the classical cherry red spot on the macula. The diagnosis can be confirmed by biopsy. The EEG is irregular but abnormalities are minor. --the second stage (10 months-2 years) the child spastic and amaurotic, often unresponsive is suffering from frequent seizures. The EEG is of high voltage, with slow and sharp waves. Auditory stimulation does not produce EEG changes. --in the third and 4th stages (after 2 years) the child is in a vegetative state with a progressive reduction in EEG voltage and sharp waves until death aged 3 or 4. Although there is a good correlation between clinical signs and EEG this is of no diagnostic value.

Brain↗

PubMedDate not supplied

An unusual form of Stevens-Johnson syndrome with subcorneal pustules associated with Mycoplasma pneumoniae infection.

We report a 10-year-old girl in whom Stevens-Johnson syndrome (SJS) (with acute gingivostomatitis and conjunctivitis) was associated with a pustular eruption clinically and histologically similar to Sneddon-Wilkinson subcorneal pustulosis. This is a very rare form of SJS, the true incidence of which is probably underestimated.

Child↗

PubMedDate not supplied

Gastric intrinsic factor hypersecretion stimulated by pentagastrin in cystic fibrosis.

The gastric pentagastrin-stimulated secretions of acid (peak acid output) and of unsaturated intrinsic factor in eight cystic fibrosis patients (1.4 +/- 0.5 mEq/kg/h and 0.27 +/- 0.12 nmol/kg/h, respectively) were significantly enhanced (p less than 0.05) when compared with six normal controls (0.27 +/- 0.16 mEq/kg/h and 0.10 +/- 0.02 nmol/kg/h, respectively). Despite the gastric hypersecretion of intrinsic factor, no significant physicochemical modification of this glycoprotein was observed in cystic fibrosis when using gel filtration and isoelectrofocusing. Haptocorrin (a cobalamin glycoproteic binder that does not promote the assimilation of cobalamin) also increased in gastric juice after stimulation. Since the sequestration of cobalamin to haptocorrin is pH dependent, the gastric acid hypersecretion observed in cystic fibrosis may explain that the malabsorption of crystalline cobalamin is much more frequent in cystic fibrosis than in chronic pancreatitis.

Adolescent↗

PubMedDate not supplied

[4th Symposium of the Francophone Society of Vitamins and Biological Factors. Dijon, France, 3-4 December 1999].

Explore the source record for details and available documents.

Biological Factors↗

PubMedDate not supplied

[Vitamins and aging].

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Age Factors↗