[Electro-clinical aspects of leucinosis]. / Aspects électro-cliniques des leucinoses.

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.

[Clinical and electrophysiological aspects of the gangliosidoses (author's transl)]. / Aspects électro-cliniques des gangliosidoses.

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.

[Pulmonary aspergillosis and chronic septic granulomatosis]. / Aspergillose pulmonaire et granulomatose septique chronique.

Two children with chronic granulomatous disease who developed diffuse pulmonary aspergillosis are described. The outcome was satisfactory in one case with miliary disease because the diagnosis was made early by an open lung biopsy. In the other case the diagnosis was delayed and the child died after 7 months with disseminated haematogenous spread of the fungal infection. Although most of the infections of chronic granulomatous disease are bacterial, the abnormalities of phagocyte killing will also predispose to fungal infections. The prolonged survival of affected children because of antibiotic therapy will increase the risk of parasitic and fungal infections.

[Electroencephalographic changes in children dialyzed according to various protocols]. / Modifications électroencéphalographiques chez l'enfant dialysé selon divers protocoles.

A study of electroencephalographic changes in six children during hemodialysis sessions was done in order to evaluate the effects of four different dialysis strategies: acetate or bicarbonate dialysates (sodium 142 mEq/1), acetate dialysate with high sodium concentration (148-150 mEq/1), and hemodiafiltration. There are basic activity alterations in all cases except during bicarbonate dialysis sessions. Alterations are, however, less pronounced during dialysis sessions with high sodium concentration dialysate. No strict concordance between clinical manifestations and electroencephalographic changes was observed. However, better tolerance of bicarbonate dialysis sessions is assessed with respect to clinical symptoms as well as electroencephalograms.

[Systemic lupus erythematosus manifested by thrombophlebitis of the lower limbs]. / Lupus érythémateux disséminé révélé par des thrombophlébites des membres inférieurs.

The diagnosis of systemic lupus erythematosus was made in a 9 year old boy who had presented two months earlier with an extensive thrombosis of the inferior vena cava and femoral veins. Haemostatic abnormalities were detected as follows: a moderate thrombocytopenia, increased platelet aggregation and stickiness, and a circulating anticoagulant (antithromboplastin).