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Biomedical subjects

M A Barthez

Publications and source records attributed to M A Barthez.

At least 19 recordsLinked to original sources
PubMed2004

Retinoic acid therapy in "degenerative-like" neuro-langerhans cell histiocytosis: a prospective pilot study.

BACKGROUND: Degenerative-like neuro-Langerhans cell histiocytosis (DN-LCH) is a rare complication of LCH marked by progressive cerebellar ataxia. No treatment has so far been shown to slow this progression. PROCEDURE: All-trans retinoic acid (ATRA) was administered orally at a dose of 45 mg/m(2) daily for 6 weeks and then 2 weeks every month for 1 year. The endpoints were clinical status at 1 year (assessed with rating scales for ataxia and disability), adverse effects, and changes in neurological abnormalities on MRI. RESULTS: Ten patients were studied. The treatment was well tolerated. All the patients were clinically stable at the end of the study. No MRI changes were noted. CONCLUSIONS: DN-LCH appeared to be stable during ATRA therapy, but further studies are required to appreciate the possible long-term benefits of ATRA.

Adolescent↗
PubMed2000

Langerhans cell histiocytosis and the central nervous system in childhood: evolution and prognostic factors. Results of a collaborative study.

This retrospective study detailed clinical and radiologic involvement of the central nervous system related to Langerhans cell histiocytosis in 18 French children. We excluded cases of isolated hypothalamic-pituitary dysfunction or spinal involvement. Cerebellar symptoms were the most common clinical symptoms. Two different patterns of magnetic resonance or computed tomographic images were identified: demyelination and gliosis or atrophy, described as degenerative lesions, mostly located in the cerebellum in 10 children, or tumor-like lesions occurring in any part of the brain in 13 children. Six children had both types of lesion. The clinical cerebellar syndrome correlated with the specific imaging pattern suggestive of a cerebellar degenerative lesion, which did not show any changes after treatment. As suggested by this study and previous clinical and histologic reports, it is believed that brain involvement in the course of Langerhans cell histiocytosis might arise from different disease mechanisms: primary histiocyte proliferation and secondary atrophy or demyelination and gliosis of unknown origin. Treatment consequently should be adapted to the supposed mechanism of the lesion.

Adolescent↗
PubMed2000

Continuous spikes and waves during slow sleep (CSWS): outcome in adulthood.

We report a longitudinal, electroencephalographic and neuropsychological analysis of epilepsy with continuous spikes and waves during slow sleep (CSWS) in a 19 year-old boy. The clinical course fluctuated, with temporary worsening or improvement of the paroxysmal abnormalities, epilepsy and cognitive functions. At the end of the follow-up period, seizures persisted. Evaluation of the boy's behaviour, language and cognitive function suggested a dysexecutive syndrome. We discuss the relationship between paroxysmal abnormalities and neuropsychological disorders.

Adult↗
PubMed1999

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Familial hemiplegic migraine (HM) is an autosomal dominant migraine with aura. In 20% of HM families, HM is associated with a mild permanent cerebellar ataxia (PCA). The CACNA1A gene encoding the alpha1A subunit of P/Q-type voltage-gated calcium channels is involved in 50% of unselected HM families and in all families with HM/PCA. Four CACNA1A missense mutations have been identified in HM: two in pure HM and two in HM/PCA. Different CACNA1A mutations have been identified in other autosomal dominant conditions: mutations leading to a truncated protein in episodic ataxia type 2 (EA2), small expansions of a CAG trinucleotide in spinocerebellar ataxia type 6 and also in three families with EA2 features, and, finally, a missense mutation in a single family suffering from episodic ataxia and severe progressive PCA. We screened 16 families and 3 nonfamilial case patients affected by HM/PCA for specific CACNA1A mutations and found nine families and one nonfamilial case with the same T666M mutation, one new mutation (D715E) in one family, and no CAG repeat expansion. Both T666M and D715E substitutions were absent in 12 probands belonging to pure HM families whose disease appears to be linked to CACNA1A. Finally, haplotyping with neighboring markers suggested that T666M arose through recurrent mutational events. These data could indicate that the PCA observed in 20% of HM families results from specific pathophysiologic mechanisms.

Calcium Channels↗
PubMed1999

Neuropsychologic and adaptive functioning in adolescents and young adults shunted for congenital hydrocephalus.

The major aim of this study was to assess whether the syndrome of nonverbal learning disabilities described in hydrocephalic children is observed in adulthood. Eleven adults shunted for congenital hydrocephalus related to spina bifida and eight adults shunted for hydrocephalus related to aqueductal stenosis were administered an extensive neuropsychologic battery to investigate discrepancies between verbal and visuospatial cognition, verbal and visuospatial long-term memory, and psycho-social adaptive abilities. The results showed no discrepancies between Wechsler Performance IQ or Verbal IQ in either hydrocephalic group. Nevertheless, the subjects with spina bifida appeared more cognitively impaired than the subjects with aqueductal stenosis, who performed normally on the Wechsler Adult Intelligence Scale-Revised. Memory assessment using Signoret's Memory Battery revealed no discrepancy between verbal and visuospatial memory in the hydrocephalic group. Nevertheless, the subjects with spina bifida had poorer verbal and visuospatial memory performance than the subjects with aqueductal stenosis. There were no differences on the Vineland Adaptive Behavioral Scale between subjects with spina bifida and those with aqueductal stenosis in autonomy, socialization, and daily living skills. These results suggest that shunted congenital hydrocephalus is not characterized by nonverbal learning disabilities syndrome in adolescence or in adulthood.

Adaptation, Psychological↗
PubMed1997

Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature.

Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.

Abnormalities, Multiple↗
PubMed1995

Study of unilateral hemisphere performance in children with developmental dysphasia.

Hemisphere specialization for language was studied in 10 children with expressive developmental dysphasia (DD) (mean age 10 years 4 months) submitted to a dichotic listening task (in a word free-recall task and forced-attention task) and a finger tapping/vocalization dual-task paradigm. A nonsense shape dichaptic task was also introduced to control right hemispheric processing. Performances of dysphasic children were compared to those obtained from 15 normal children. The results showed that controls had a right ear advantage in free-recall (words) dichotic listening task and a significant right ear advantage in forced-right-attention task, with a change in ear asymmetry as a consequence of instruction. In the dysphasic group we observed a significant right ear advantage in the free-recall dichotic listening task and no change in ear asymmetry during forced right or forced left condition. Results in time sharing paradigm and nonsense dichaptic task are more difficult to interpret, because there was no interaction between group and condition. These results cannot support a complete left hemisphere dysfunction in developmental dysphasia.

Aphasia↗
PubMed1995

Sleep EEG and developmental dysphasia: lack of a consistent relationship with paroxysmal EEG activity during sleep.

In order to clarify the relationship between developmental dysphasia and EEG abnormalities, paroxysmal activities during sleep were studied in a series of 24 children with expressive developmental dysphasia (mean age 8 years) and compared to a control group of 39 children (mean age 9 years). The children of both groups were selected excluding cases with prior history of neurological disease or epilepsy. In the control group, 37 children had normal sleep EEG while 2 children had paroxysmal abnormalities. In the dysphasic group, epileptic abnormalities were observed in 9 cases, rare in 4 cases and frequent in 5 cases (density: 2.5 to 66.2% of total sleep time). Nevertheless, paroxysmal abnormalities did not reach the frequency described in the Landau-Kleffner syndrome, and it is unlikely that EEG abnormalities could have produced dysphasia.

Aphasia↗
PubMed1994

Genetic basis of developmental dysphasia. Report of eleven familial cases in six families.

The genetic basis of Developmental Dysphasia is discussed with precise neuropsychological descriptions of 11 cases in six families. In these cases the coexistence in the same family of completely normal and severely impaired siblings suggests a genetic rather than a familial socio-linguistic cause. The possibility of father-son transmission eliminates X-linked inheritance. The results are discussed with a reappraisal of the literature and seem to emphasize the genetic basis, possibly, with autosomal dominant transmission in some cases of Developmental Dysphasia.

Adolescent↗
PubMed1993

[Late recurrence of supra- and infra-tentorial medulloblastoma].

BACKGROUND: The vital outcome for treated medulloblastoma in children is generally positive provided there is no evidence of recurrence 18 months after initial surgery and radiotherapy. Late recurrences have, however, been reported. CASE REPORT: A medulloblastoma in the posterior fossa of a 10 year-old-boy was treated by almost complete surgical excision, radiotherapy and chemotherapy. One year later, the CT scan was normal but, 4 years after surgery, it showed supra-and infratentorial tumors. Progressive hydrocephaly required a ventriculoperitoneal shunt. 9 years after the initial surgery, progressive neurological degradation and the presence of cells in the CSF were treated by several courses of chemotherapy, with subsequent improvement of the neurological condition. This boy is in a stabilized condition 11 years after the discovery of the tumor. CONCLUSION: The first symptomatic recurrence of medulloblastoma was late, more than seven years after surgery. This recurrence was supra-and infratentorial and responded to non intensive chemotherapy.

Cerebellar Neoplasms↗
PubMed1989

[Early resection of the orbital band in coronal craniostenosis].

The authors report a case history of bilateral coronal synostosis in Apert's syndrome, treated by fronto-orbital band resection and linear craniectomy of the pathologic sutures. The authors emphasize the rapidity of this procedure, its safety for fragile children and its immediate results.

Acrocephalosyndactylia↗
PubMed1989

[Subdural hematoma in infants. Indications and results of external subdural derivation].

20 infants presenting with a chronic subdural hematoma (S.D.H.) including 15 boys and 5 girls from 1.5 to 16 months (mean age 6.3 months) were treated by tapping (1 case) or irrigation through burr-holes (2 cases) or external drainage (17 cases). The drainage was performed on both sides when the S.D.H. was bilateral (13 cases). Results were analyzed clinically and by C.T. scan. No sequela was noted in 10 cases while in 10 others persisted some neurological (5 cases) or psychomotor (4 cases) impairment or an epileptic status (1 case). In all but one case, the S.D.H. disappeared completely on C.T. scan controls. Therefore, in case of acute S.D.H., we consider that simple therapeutic methods, if early realized, are generally sufficient.

Drainage↗
PubMed1987

Relapse of herpes simplex encephalitis.

This report describes a child with herpes simplex virus (HSV) encephalitis who improved dramatically while being treated with acyclovir but subsequently had neurological deterioration and died. A severe necrotizing process was present in the brain at autopsy but there were no focal areas of demyelination and poor inflammatory response. HSV was not cultured from brain biopsy during relapse or autopsy. Fourteen previous cases of relapsing herpes encephalitis are reviewed and treatment regime and mechanisms of relapse are discussed.

Acyclovir↗
PubMed1987

[Clinical symptomatology in aneurysm of the ampulla of Galen. Results of a national survey].

Results of a national survey of clinical symptomatology revelatrice of an aneurysm of Galen's ampulla are analyzed and compared with documented data. Three large groups can be distinguished as a function of age at diagnosis: the neonatal period: cardiac insufficiency; childhood: macrocrania; adolescence and adult life: various clinical symptoms and signs but fortuitous discovery not exceptional.

Adolescent↗