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Biomedical subjects

B Echenne

Publications and source records attributed to B Echenne.

At least 91 records · Page 5Linked to original sources
PubMed1986

Salla disease in one non-Finnish patient.

In a 5-year-old boy, an early onset psychomotor retardation with non-progressive ataxia and without dysmorphic features, associated with lysosomal storage disease found on ultrastructural examination of the conjunctiva, led to the diagnosis of Salla disease. This was supported by a tenfold excretion of urinary free sialic acid, without abnormal oligosacchariduria or anomaly in lysosomal enzymes. This boy is a native of Southern France. Screening of urinary sialic acid has to be introduced in aetiological investigations of patients with apparently non-progressive psychomotor retardation associated with ataxia or dystonic movements.

Child↗
PubMed1986

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

Atrophy↗
PubMed1985

[Maturation of cerebral somatosensory evoked potentials].

Cerebral somatosensory evoked potentials (SEPs) were elicited by stimulation of the median nerve and/or posterior tibial nerve in 117 children of 1 day to 16 years old. A major negative wave (N) was consistently recorded from the parietal region of the scalp when the arm was stimulated. The peak latency, the onset latency, the rising time and the duration of H wave are closely correlated with age and body length. The latencies are shortest in the subjects of 1-3 years old. SEPs to lower extremity stimulation were inconstant in the infants before the age of one. The major positive wave (P) has a variable topographic distribution along the middle line, over the scalp. The latencies are also very variable in the different subjects of the same age as well as in the same subject with different locations of active electrode. Among the parameters studied as for N wave, only the rising time of P wave is significantly correlated with age. The latencies of P wave have the shortest value in the subjects of 1-3 years old. The comparison of SEPs to upper and to lower limb stimulations shows that there is no relationship between them in respect to their morphology and amplitude. The minimum value of the latencies of N and P waves was observed at the same age but the difference between the peak latencies of P and N waves in the same subject increases considerably after 2 years of age and reaches the adult value after 5 years of age. These resultats indicate that the maturation of the peripheral somatosensory pathways proceeds at a higher rate than that of the central somatosensory pathways, that the maturation of the somatosensory pathways of the upper limb precedes that of the lower limb, and that the rising time of N or P waves is a good index of cortical maturation. The clinical utility of these SEPs in pediatrics is discussed.

Adolescent↗
PubMed1985

Multicore disease and Marfan's syndrome: a case report.

A 16-year-old girl with a generalized nonprogressive motor weakness and clinical signs of Marfan's syndrome is reported. A minicore disease was diagnosed after muscle biopsy. The association of Marfan's syndrome with muscular dystrophies is discussed.

Adolescent↗
PubMed1985

[Spasticity of the lower limbs and the Weaver-Smith syndrome].

The diagnosis of Weaver-Smith syndrome has been carried out on two patients with facial dysmorphic features, excessive growth and accelerated bone maturation. A marked spasticity of the lower limbs with joint contractures in one patient, a spastic quadriplegia with delayed milestones in the second patient were the most prominent clinical features. In both cases a spontaneous improvement of muscle tone with complete recovery was observed at the end of the first year of life.

Bone Diseases, Developmental↗
PubMed1984

Congenital muscular dystrophy with cerebral white matter spongiosis.

Two siblings affected with a slowly progressive congenital myopathy presented mental retardation, epilepsy and craniofacial dysmorphy. The cerebral necropsic study of one of these patients showed severe anomalies of the white matter, with spongiosis, astrogliosis and vascular hyperplasia, whereas a diffuse and marked hypodensity of white matter was observed at cerebral CT scan in the other patient. There were any lesion of cerebellar grey matter, heterotopy, micropolygyria or neuronal destruction. This syndrome seems to be an original variant of congenital neuromyopathy.

Adolescent↗
PubMed1984

[Use of cefotaxime in severe infections in newborn infants].

Twenty-seven septicemia, 2 urinary tract infections and 2 meningitis were treated with Cefotaxime. The pathogenic organisms were most often entero-bacteria (16 E. coli, 2 Klebsiella, 2 Enterobacter cloacae, 1 Proteus, 1 Acinetobacter); sometimes they were Streptococcus (5 Streptococcus D, 3 Streptococcus B, 1 Streptococcus Salivarius). Cefotaxime was given alone to 16 patients, in association to an aminoglycoside in 15 cases. It was administered by infusion over 30 minutes every 8 hours in a daily dose of 150 mg/kg (during 10 days in case of septicemia and during 18 days if it was a meningitis). A clinical and bacteriological success was obtained in 86% of the 22 cases caused by Enterobacteria, in one of the 5 septicemia due to Streptococcus D and in the 3 infections caused by Streptococcus B. It may be concluded from these results that cefotaxime may be used in neonate infection due to a Gram-. But when a Listeria or a Streptococcus D is discovered the ampicillin classically prescribed must be maintained.

Bacterial Infections↗
PubMed1983

Vertebro-basilar arterial occlusion in childhood--report of a case and review of the literature.

A 9-year-old boy developed ataxia, right transient hemiparesis, left transient hemichorea, dysarthria and swallowing difficulties with left velar paralysis following two transient episodes of vomiting, headache and dizziness. Angiography demonstrated an occlusion of the distal part of the basilar artery. Thirty-six previously reported cases of vertebro-basilar arterial occlusion in children were reviewed, with particular regard to possible etiologies.

Ataxia↗
PubMed1983

Congenital muscular dystrophy and rigid spine syndrome.

In three patients with muscular dystrophy, the unexpected occurrence of spinal stiffness suggested a diagnosis of rigid spine syndrome. One case belongs to the benign form of the congenital muscular dystrophies; in the other cases however, the severity and the distribution of the muscular process, associated with neurological abnormalities, seems to correspond to a unique variant of congenital muscular dystrophy. These observations underline the heterogeneity of the rigid spine syndrome.

Brain↗
PubMed1981

[All-night polygraphic recordings in the child with suspected epileptic seizures, in spite of normal routine and post-sleep deprivation EEGs (author's transl)].

Normal standard EEGs and normal or borderline EEGs after sleep deprivation in children with one or several suspected epileptic seizures are relatively frequent. All-night polygraphic recordings were performed on 31 children, aged 3-11, who fall into this category, in order to demonstrate epileptiform activity. Three of the recordings were normal, whereas 8 were borderline and 20 showed unequivocal epileptiform activity. The rate of sleep activation is discussed according to the types of epilepsies, the age at the first seizure, the frequency of the seizures, and the position of the seizures within the sleep-waking cycle.

Child↗