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Biomedical subjects

N Pinsard

Publications and source records attributed to N Pinsard.

At least 19 recordsLinked to original sources
PubMed1997

Ischemic cerebrovascular disease in children: retrospective study of 35 patients.

A 10-year review of a neuropediatric department experience with childhood ischemic cerebrovascular disease identified 35 patients with arterial ischemic stroke. The ability to diagnose stroke in children has improved with the development of imaging techniques in the past few years. Children have a wide array of risk factors for ischemic strokes, since some are acquired and others are congenital. Twenty-eight associated conditions (80%) were found in our patients and we identified 17 specific causes (48.5%) among them. The cause of stroke in children is important to recognize because stroke is likely to recur depending on the etiology.

Adolescent↗
PubMed1996

Relapsing acute encephalopathy: a complication of diphtheria-tetanus-poliomyelitis immunization in a young boy.

UNLABELLED: Neurological complications of immunizations are rare. We report the case of relapsing acute encephalitis in a boy after two subsequent diphtheria-tetanus-poliomyelitis vaccinations. First the clinical signs were those of acute disseminated encephalitis. During the second episode, the boy experienced optic neuritis. Recovery was complete after both events. Because of the close temporal relationship of both these demyelinating episodes with the immunizations, we favour a cause and effect relationship. CONCLUSION: The observation of a 7-year-old boy who developed relapsing acute encephalitis after two diphtheria-tetanus-poliomyelitis vaccinations and a similar case in the literature suggests that this neurological manifestation may occur as a very rare complication of diphtheria-tetanus-poliomyelitis vaccination.

Cerebellar Cortex↗
PubMed1996

Plasma concentrations and pharmacokinetics of idebenone and its metabolites following single and repeated doses in young patients with mitochondrial encephalomyopathy.

OBJECTIVE: The pharmacokinetics and tolerance of idebenone after single or repeated doses have been studied in young patients with mitochondrial encephalomyopathy. RESULTS: No significant adverse effects were noted. In 3 out of 7 patients idebenone induced overall stimulation and improvement in arousal. Plasma concentrations of idebenone and its main metabolites were determined and the pharmacokinetic parameters of idebenone after single and repeated doses were estimated. During the single dose study, the mean plasma concentrations of idebenone and its main metabolites and mean pharmacokinetic parameters were comparable to published results (Cmax = 452.2 ng.ml-1, tmax = 2.3 h, AUC = 26 micrograms. ml-1.h, t1/2 beta = 16.5 h). During the repeated doses study, no significant difference was found between mean residual plasma concentrations of idebenone on Day 2 (47 ng.ml-1) and Day 5 (70.6 ng.ml-1), and mean t1/2 beta of idebenone after the single and after repeated dose studies, i.e., there was no evidence of accumulation. Although idebenone did not appear to accumulate during this study, the coadministration of anticonvulsants, often prescribed during mitochondrial encephalomyopathy, can affect its pharmacokinetics.

Adolescent↗
PubMed1994

Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency.

We report a 3 year-old girl with a myoclonic epilepsy. A fatal hepatic failure occurred after 3 months of valproate (VPA) therapy. In this patient, a defect of cytochrome c oxidase (COX) was demonstrated in her circulating lymphocytes. The enzyme was also found to be deficient in post-mortem liver and in cultured skin fibroblasts. However, a fully functional respiratory chain was found in muscle. VPA administration apparently triggered the hepatic failure, given this patient's background of partial COX deficiency.

Amino Acids↗
PubMed1994

Genetic heterogeneity of familial hemiplegic migraine.

Familial hemiplegic migraine (FHM) is an autosomal dominant variety of migraine with aura. We previously mapped a gene responsible for this disorder to the short arm of chromosome 19, within a 30-cM interval bracketed by D19S216 and D19S215. Linkage analysis conducted on two large pedigrees did not show any evidence of heterogeneity, despite their clinical differences due to the presence, in one family, of cerebellar ataxia and nystagmus. Herein we report linkage data on seven additional FHM families including another one with cerebellar ataxia. Analysis was conducted with a set of seven markers spanning the D19S216-D19S215 interval. Two-point and multipoint lod score analyses as well as HOMOG testing provided strong evidence for genetic heterogeneity. Strong evidence of linkage was obtained in two families and of absence of linkage in four families. The posterior probability of being of the linked type was > .95 in the first two families and < .01 in four other ones. It was not possible to draw any firm conclusion for the last family. Thus, within the nine families so far tested, four were linked, including those with associated cerebellar ataxia. We could not find any clinical difference between the pure FHM families regardless of whether they were linked. In addition to the demonstration of genetic heterogeneity of FHM, this study also allowed us to establish that the most likely location of the gene was within an interval of 12 cM between D19S413 and D19S226.

Ataxia↗
PubMed1993

[Ischemic cerebrovascular accidents in homozygous sickle cell anemia. Two case reports].

Two cases of ischemic stroke in children of Tunisian descent with sickle cell anemia are reported. Patients were aged 3 years and 14 years, respectively. Periodic partial exchange transfusions with sedimented red blood cells of identical phenotype prevented further episodes of ischemic stroke. Transplantation of HLA-identical bone marrow from a family member offers a chance of complete cure of the hemoglobin disorder in these children who are at risk of recurrent stroke.

Adolescent↗
PubMed1992

[Spinal cord tumor with meningeal invasiveness revealed by intracranial hypertension syndrome].

The association of hydrocephalus and intramedullary spinal-cord tumor with leptomeningeal spread is described in a 20 month-old boy. The pathogenesis of increased intracranial pressure in spinal cord tumor is discussed. Meningeal gliomatosis is rare and is more often observed in the follow-up of cerebral gliomas. It exceptionally occurs in patients without known cerebral or spinal tumor. Such a tumor often occurs in young patients and has a poor prognosis.

Glioma↗
PubMed1991

[Outcome of herpetic encephalitis. Apropos of 10 cases].

Ten cases of herpetic encephalitis in children aged 2 months to 13 1/2 years at onset are reviewed retrospectively. There were four infants and six children 3 to 13 1/2 years old. Diagnosis was established on the basis of widely accepted electroclincal and neuroradiological criteria. Biologic confirmation was obtained in only half the cases. Two patients died during the initial episode. One patient was lost to follow-up two months after the first episode. Follow-ups ranged from 2 to 10 years for the seven remaining patients. Epilepsy and neurodevelopmental impairment occurred in a significant number of cases (5/7 and 6/7 respectively). Two patients had two episodes and one had more than two episodes of encephalitis. This poor outcome is discussed, as well as possible explanations for recurrent disease and particular neuropsychologic patterns, including Kluver-Bucy syndrome seen in two patients of this series.

Adolescent↗
PubMed1990

[A cerebral abscess due to Listeria monocytogenes in a 15-month-old infant].

We report a case of brain abscess due to Listeria monocytogenes in an infant. We recall that listeriosis is infrequent in pediatric patients beyond the neonatal period, that most cases occur in immunocompromised hosts, and that clinical features are non-specific in neuromeningeal forms. Management of brain abscesses is discussed. The role of the patient's general health condition seems to have a determinant influence on prognosis.

Brain Abscess↗
PubMed1989

Indications of radiological explorations in partial epilepsy of childhood.

In partial epilepsy of childhood the decision to request radiological exploration rests on a good knowledge of the disease. The authors summarize the electrical and clinical features of the various types of partial epilepsy. Most of these types, and in particular benign partial epilepsy with rolandic paroxysms, require no exploration. In contrast, symptomatic partial epilepsy must be investigated in search of a brain lesion. In such cases CT is indispensable. The more accurate and more sensitive MRI may be performed either initially or after a negative CT scanning in children with partial epilepsy which does not respond to medical treatment.

Child↗
PubMed1989

Magnetic resonance imaging in partial epilepsy of childhood. Seventy-nine cases.

A heterogeneous series of 79 children with partial epilepsy was studied by computerized tomography (CT) and magnetic resonance imaging (MRI) to evaluate the contribution of MRI to the aetiological diagnosis of that disease. Both CT and MRI were normal in 13 cases and abnormal in 41 cases showing the same pathology (malformation, atrophy, tumour, scar). In 4 cases of continuous partial epilepsy the lesions observed were either diffuse or focal corresponding to the electrical focus, and they could be due to Rasmussen's encephalitis. In 19 cases where CT gave normal results, MRI showed bilateral high-intensity signal areas of uncertain significance in the white matter of the caudal part of the hemispheres. All considered, it seems that with its greater sensitivity MRI should be the first or only exploratory method to be used in the evaluation of partial epilepsy of childhood.

Adolescent↗
PubMed1989

[A therapeutic trial of mazindol versus placebo in Duchenne muscular dystrophy. A one-year follow-up study of 14 children].

A simple-blind therapeutic trial of mazindol (2 mg/d) versus placebo in 14 boys with Duchenne muscular dystrophy, 5 to 13 years old, for 12 months was conducted in order to analyse the efficacy of this drug on the natural history of the disease. Evaluation of muscle strength by manual testing, motor ability by functional testing and timed tests, weight, height, serum CK and pulmonary function were performed every two months. The differences in evolution between groups were significant only for weight and height. However comparison of muscle strength and of vital capacity expressed as percent of predicted at the beginning and at the end of the study suggested a beneficial trend in the mazindol-treated group.

Adolescent↗
PubMed1987

Lissencephaly (agyria-pachygyria): clinical findings and serial EEG studies.

Fifteen cases of lissencephaly were studied and the literature reviewed. The authors conclude that the clinical findings of lissencephaly in infancy are non-specific, consisting of developmental delay and hypotonia. While the CT scan establishes the diagnosis, it may also be strongly suggested by an EEG showing 'major fast dysrhythmia', characterized by abnormally rapid, very high-voltage activity, predominantly in the alpha and beta frequency bands. Some possible mechanisms for this highly suggestive EEG pattern are proposed.

Brain↗
PubMed1986

Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy.

Two siblings born from consanguineous tunisian parents are reported. They showed a severe form of Farber's disease with prominent involvement of the central and peripheral nervous system: low conduction velocity was noticed in both children. Macular cherry red spots were observed in one of them. The diagnosis for the girl investigated was confirmed by evidence of ceramidase deficiency in cultured fibroblasts. Here we report the pathological findings in the subcutaneous nodules using light and electron microscopy (one case), and in sural nerves using morphometric studies (both cases). Varying morphological aspects of intracellular inclusions, depending on the tissues involved, are described and discussed. A review of all cases reported since Farber's first paper in 1952 is given.

Amidohydrolases↗
PubMed1985

Radiology of ischemic strokes in children.

Arterial ischemic strokes are a relatively frequent diagnostic occurrence in pediatric neuroradiology. They occur mostly in three main etiologic contexts: congenital heart disease; neonatal distress; infections, focal or general inducing vasculitis, but many cases are considered idiopathic. The positive diagnosis is made by CT; in neonates, however, ultrasound appears as a promising tool. The CT features are basically similar at that age and in adults, although the site of the infarct may result from pathologies more particular to children (e.g. basal ganglia infarction due to arteritis of the carotid siphon and its branches). Infarcts may be multiple and also more frequently hemorrhagic at that age, the hemorrhagic phenomena affecting only the gray matter except in young infants in which the subcortical white matter may be affected also. Anatomical sequels include focal atrophy and asymmetry of the brain. Data regarding the etiology can be gathered from angiography which may show the degree of impairment of the arterial bed, its extent, the collateral blood supply and the morphological type of arterial lesion responsible for the cerebral damage. The most particular picture at that age is that of the often diffuse vasculitis, with its various expressions (segmental narrowing of the lumen, dissecting aneurysm, string-of beads appearance).

Brain Damage, Chronic↗