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Biomedical subjects

B Echenne

Publications and source records attributed to B Echenne.

At least 109 records · Page 6Linked to original sources
PubMedDate not supplied

Benign infantile epilepsy with autosomal dominant inheritance.

Benign cryptogenic infantile epilepsy occurred in 6 infants of 3 families, with similar characteristics suggesting a common physiopathology: onset between 3 and 12 months of age, clusters of brief generalized seizures easily controlled by anti-epileptic drugs, normal psychomotor development, usually normal EEG with, rarely, generalized interictal spike-waves, no recurrence after drug discontinuation, the treatment being no longer than 16 months in most cases. Identical histories were found in parents, uncles and aunts, suggesting an autosomal dominant mode of inheritance. This seems to correspond to an original form of early onset, benign infantile epilepsy.

Age of Onset↗
PubMedDate not supplied

Benign paroxysmal tonic upward gaze.

We report a 10-month-old infant with benign tonic paroxysmal upward gaze. The clinical picture is identical to that described in 8 previously reported patients. This syndrome appears to be unique and has a tendency for spontaneous recovery.

Follow-Up Studies↗
PubMedDate not supplied

Skin elastic fiber pathology and idiopathic scoliosis.

An antomic study of skin elastic fibers coupled with a histochemical and ultrastructural study of one peripheral muscle sample was performed in 34 patients with idiopathic scoliosis. Twenty-eight of them had an elastopathy resulting in rupture or disparity between the dermis elastic fibers. The muscle histoenzymologic study showed that 17 of the patients also had an abnormal predominance of type I muscle fibers. These data led to our discussion of the role of elastic tissue abnormalities in the genesis of early or severe idiopathic scolioses.

Adolescent↗
PubMedDate not supplied

[Congenital neuropathy caused by hypomyelination].

A 9 year-old girl with congenital hypomyelination neuropathy is reported. Clinical features were delayed motor development, disturbances of gait, deep sensory defect, areflexia and mild distal palsy with claw feet. E.M.G. revealed dramatically diminished motor conduction velocities. C.S.F. protein was normal. Histological examination of the right sural nerve revealed a severe loss of myelinated fibers. On electron microscopy, poorly myelinated and large amyelinated axons were enclosed by normal Schwann cells and surrounded by multiple single or double layered basement membranes which were concentrically arranged in an onion bulb pattern. This case of congenital hypomyelination neuropathy is compared with ten similar cases in the literature.

Child↗
PubMedDate not supplied

[Congenital hydrocephalus with gigantism].

Fetal ultrasonography supplied the diagnosis of hydrocephalus after 35 weeks of pregnancy. After birth, the diagnosis was confirmed by clinical examination and CT Scan. Psychomotor development was normal with stabilization of the hydrocephalus without any treatment. In view of this case, the authors discussed the indications for antenatal surgical treatment of hydrocephalus cases diagnosed in utero.

Adult↗
PubMedDate not supplied

[Dystonia musculorum deformans. Elements of a favorable development].

The therapeutic benefits of a concomitant approach to the disease and to the patient's identity experienced by the authors is illustrated by this case of a child presenting with dystonia musculorum deformans and severe disturbances of identity. This work was part of a research program concerning the function of these approaches and the operative modalities of their combinations.

Child↗
PubMedDate not supplied

[Use of diazepam in the preventive home treatment of recurrent febrile convulsions].

Parents with children who had presented with a simple febrile convulsion were advised to give their children rectal diazepam, in case of fever. The results (21 families with an average follow-up of 2 years) were compared with those in two groups of controls. The efficacy and inocuousness of prophylactic treatment are remarkable. However, its indication should be more precisely stated, after a better information of families and practitioners, since the expected effect on familial apprehension was not satisfactorily obtained.

Child↗
PubMedDate not supplied

[Role of Streptococcus group D in infections in newborn infants].

Our investigation concerns 14 streptococcus D sepsis neonates, thirteen of which were collected over a six year period during which eighty-two neonate infections were recorded. This rate slightly higher than generally recorded and may be due to the initial prescription of third generation cephalosporin to the mothers. The clinical, hematological and biological data are not specifically those of group D streptococcus. The issue was unfavourable in 15% of our cases and in 8 to 33% of the recorded cases. The sensitivity to antibiotics varies depending on the species of group D streptococcus. The effectiveness of Amoxicillin, of Mezlocillin and of Ampicillin justifies the initial prescription in association with an aminoglycoside because of the possibility of synergy; cephalosporins are contraindicated as they are inactive on this germ.

Anti-Bacterial Agents↗