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Biomedical subjects

B Echenne

Publications and source records attributed to B Echenne.

At least 73 records · Page 4Linked to original sources
PubMed1992

Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.

Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene, leading to the production of an altered-sized protein. We examined the expression of dystrophin in a BMD patient and in his asymptomatic mother by Western blot and immunofluorescence. The combination of these techniques allowed us to demonstrate the presence of two different dystrophins, normal-sized or reduced-sized in the muscular fibers of the asymptomatic carrier. This result emphasizes the value of dystrophin analysis for carrier detection and genetic counselling of families with Becker muscular dystrophy.

Adolescent↗
PubMed1992

Epileptic electroencephalographic abnormalities and developmental dysphasias: a study of 32 patients.

The relationships between severe developmental dysphasias and epilepsy were analysed in 32 patients with congenital dysphasias. The mean age was 8 years 2 months; 19 of 32 had never had seizures; 9 had had occasional seizures; 4 were epileptic. Twenty-two of 32 had normal repeated standard EEGs, but 10 (2 of which never had seizures) showed epileptic interictal discharges. During prolonged EEG after sleep deprivation, epileptic abnormalities were observed in 13 of the 32 cases (4 of which never had seizures). The overall night sleep recordings showed epileptic abnormalities in 30 of the 32 cases (17 of which had never had seizures). The epileptic interictal abnormalities varied considerably in intensity and aspect in the same patient from one examination to another. Developmentally aphasic children show a higher incidence of abnormal EEG than expected, particularly during overall night recordings. In most cases, the physiopathology of the language disturbance might be identical to that in Landau-Kleffner syndrome.

Adolescent↗
PubMed1992

Dominantly inherited hypoplasia of the vermis.

A mother and her two daughters with presumed dominantly inherited, non-progressive, congenital cerebellar ataxia are reported. Magnetic resonance imaging revealed vermal hypoplasia in one case, and generalized hypoplasia of the cerebellum, predominating at the vermal level, in another case. These patients are identical to those previously published, except for a slowly progressive improvement of motor abilities observed during evolution.

Adult↗
PubMed1992

[Idiopathic pericerebral swelling (external hydrocephalus) of infants].

Benign enlargement of the subarachnoid spaces was diagnosed in 41 infants on the basis of ultrasound and/or CT scan findings. 10 MHz transfontanellar ultrasonography is without doubt the most reliable investigation in this condition (skull-to-cortex distance greater than 5 mm). Patients with extracerebral collections due to a clearly identifiable pathologic process (e.g., prematurity, IUGR, neonatal distress, malnutrition) were excluded from the study. Macrocrania developed rapidly in 72% of patients, either as the single manifestation (30%) or with delayed motor development and hypotonia (30%). Other clinical patterns included evidence of intracranial hypertension (15%) and hypotonia without macrocrania (20%). The two main findings of this study were the high rate of familial forms and the severity of early hemorrhagic complications, i.e., spontaneous subdural hematoma (5/41 cases), with permanent neurologic impairment in some instances (2/5 cases). These complications call into question the benignity of this syndrome whose long-term outcome, particularly in terms of cognitive function, is as yet unknown.

Echoencephalography↗
PubMed1991

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.

We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) were detected by multiplex polymerase chain reaction. All these deletions have been delineated with regard to the exon-containing HindIII fragments revealed by cDNA probes, and in two cases, junction fragments of altered size were seen. The correlation between phenotype and type of deletion agreed with the reading frame theory, except for two BMD and two DMD cases.

Adolescent↗
PubMed1991

Treatment of infantile spasms with intravenous gamma-globulins.

In a prospective study, 23 children with infantile spasms received intravenous gammaglobulins in high doses. 19 patients present a West syndrome. 4 older patients were included in the study because infantile spasms had preceded their Lennox-Gastaut syndrome. None of the patients had recently undergone corticosteroid therapy. No effect was observed in 15 patients, while transitory clinical and/or electroencephalographic improvement was noted in 3. Complete normalization was obtained in the remaining 5 patients, of whom 4 had severe brain lesions. No correlation existed between the therapeutic results and immunological abnormalities, a deficiency in IgG subclasses in particular. On the whole, the therapeutic results were disappointing. But the existence of some cases in which spectacular electroencephalographic and/or clinical improvement was obtained leads us to suggest that IV gamma-globulins be used as auxiliary treatment in infantile spasms.

Electroencephalography↗
PubMed1991

Cerebrospinal fluid beta-endorphin and cortisol study in Rett syndrome.

An evaluation of cerebrospinal fluid and plasma beta-endorphin and cortisol levels was performed in 15 girls affected with classic Rett syndrome. There were no differences between the patient group and the control group in plasma cortisol and beta-endorphin levels. But in Rett syndrome, a significant increase in beta-endorphin was noted in the cerebrospinal fluid, with an elevation of the cerebrospinal fluid/plasma beta-endorphin ratio and a decrease in cerebrospinal fluid cortisol. A substantial overlap between patients and control group diminishes the diagnostic value of cerebrospinal fluid beta-endorphin assay in girls suspected of having Rett syndrome.

Adolescent↗
PubMed1990

Hemimegalencephaly and neurofibromatosis.

Hemimegalencephaly, which previously has been associated with a poor clinical course characterized by intractable seizures and severe encephalopathy, was found without these conditions in two children with neurofibromatosis. These children showed relatively similar and favourable prognostic features: no presence of seizures before one month, seizures controlled or absent, no focal neurological signs and peculiar EEG findings. In our opinion the absence of heterotopias and hamartomas can be related with less severe outcome.

Brain↗
PubMed1989

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

Calcifications of the basal ganglia are described under the heading of "Fahr's syndrome". The clinical pattern is variable and the syndrome may be sporadic or familial. This study describes a personal series of 14 cases of encephalopathy with calcification of the basal ganglia and reviews the literature cases. A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. Some cases have an early onset, a rapid evolution. Others have a later onset, longer course and retinal degeneration. In the second group, the children suffer from a congenital encephalopathy or a cerebral palsy without clear deterioration, without short stature, ocular impairment or persistent CSF abnormalities. This group has not been reported in the literature. The cases do not seem to be genetic. The precise cause in unknown but a sporadic non progressive anoxo-ischemic, or viral prenatal disease is suggested. In the third group, the association of encephalopathy, microcephaly, and persistent CSF lymphocytosis, has a high recurrence rate. The pathogenesis is still a matter of dispute. The fourth group is characterized by autosomal dominant calcifications of the basal ganglia with or without neurological abnormalities. Finally calcium metabolism disorders and mitochondrial encephalomyopathy may be associated with calcifications of the basal ganglia.

Basal Ganglia Diseases↗
PubMed1989

Spongy degeneration of the neuraxis (Canavan-van Bogaert disease) and N-acetylaspartic aciduria.

Urinary excretion of an abnormal amount of N-acetylaspartic acid has been evident in a 17-month-old child with an infantile picture of Canavan-van Bogaert disease. This observation makes it possible to consider the possibility of a simple biological diagnosis and confirms the existence of metabolic abnormalities which will probably permit to make rapid progress in the physiopathologic study of this disease.

Aspartic Acid↗
PubMed1989

[Rett syndrome. A report of fifteen cases].

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.

Biomarkers↗
PubMed1987

[Nemaline myopathy. General review apropos of 3 cases].

Three cases of nemaline myopathy are reported. The first one was characterized by delayed motor milestones, hypotonia and proximal weakness in a 2-year-old girld. The second case was diagnosed at 19 in a boy who suffered from a severe scoliosis without any neurological sign. The third patient was a 31 year-old man who had a progressive muscular weakness of limb girdles. Muscle biopsy revealed rods in muscle fibers with Gomori trichrome staining in two cases, and by electron microscopy in one case only. Variations of fiber calibration, fiber I predominance and a myofibrillar disorganization were seen in two cases. Clinical, histopathological and physiopathological of nemaline myopathy are discussed.

Adult↗
PubMed1987

[Tolosa-Hunt painful ophthalmoplegia. Apropos of a case in a 10-year-old girl].

The authors report a case of Tolosa-Hunt syndrome in a 10 1/2 year-old girl. Associating lasting orbital pain and impairment of the ocular motor innervation, this syndrome evolves over several years with spontaneously regressive bouts and may induce ocular sequellae. The dramatic efficacy of corticosteroid treatment is considered by several authors as a diagnostic test. It is a diagnosis of exclusion, which should be suggested only after careful enquiry searching for a general or local cause. In fact, only the ophthalmoplegic migraine may set up difficult problems of differential diagnosis.

Child↗