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Biomedical subjects

J L Nivelon

Publications and source records attributed to J L Nivelon.

At least 19 recordsLinked to original sources
PubMed1995

Late thalamic atrophy in infarction of the middle cerebral artery territory in neonates. A prospective clinical and radiological study in four children.

We report four cases of progressive thalamic atrophy following ipsilateral cerebral infarction in the territory of the middle cerebral artery in neonates, with prospective radiological and clinical follow-up. This type of atrophy appears within 6 months after the onset of cerebral infarction. In the short term, this atrophy has no action on sensory and memory function and/or on sensory evoked potentials. This atrophy is not the result of secondary ischemic neuronal damage. Judging from several other experimental studies, thalamic atrophy may primarily result from retrograde degeneration. It would be interesting to observe the consequences of this atrophy on sensory and memory function over a long period.

Cerebral Arteries↗
PubMed1995

Cerebrovascular disease in children under 16 years of age in the city of Dijon, France: a study of incidence and clinical features from 1985 to 1993.

Our motivation for undertaking the present survey was to determine the incidence, the distribution, and the clinical features of ischemic and hemorrhagic strokes in children under 16 years old, in a well-defined population-based study. The survey was carried out on the population of the City of Dijon (150,000 inhibitants) from January 1, 1985 to December 31, 1993, collecting prospectively both in adulthood and in childhood (23,877 resident children). Diagnosis of stroke was established on the basis of clinical features and the mechanism was identified by CT scan from 1985 to 1987, and by CT scan and magnetic resonance imaging from 1987 to 1993. When a hemorrhagic stroke was identified, a cerebral arteriogram and an investigation of the coagulation factors were performed. When an ischemic stroke was identified, the following were performed: an ultrasound examination of the cervical arteries, a cerebral arteriogram, a lumbar puncture, an investigation of the coagulation factors and lipid status, a measurement of homocysteine in the plasma and the urine, an electrocardiogram (EKG), a Holter procedure, and a cardiac echography. During the 9 full calendar years of this study we observed 28 stroke patients from a population of 23,877 resident children. There were 17 cases of ischemic stroke, representing some 61% percent of the total, as well as 11 cases of hemorrhagic stroke, 39% percent of the total. The average annual incidence rate was 13.02/100,000 for all strokes, 7.91/100,000 for ischemic strokes, and 5.11/100,000 for hemorrhagic strokes.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

Study of final height in Turner's syndrome: ethnic and genetic influences.

In understanding Turner's syndrome, spontaneous adult height is a prerequisite for an accurate assessment of the therapeutic efficiency of growth hormone treatment. The heights described in the literature reveal significant differences (136-147 cm). Our collaborative study pooled results from 16 pediatric endocrinology centers and obtained a large number of spontaneous adult heights (n = 216). The selective criteria were: chronological age (CA) > 18 years, bone age (BA) > 16 years, typical karyotype, no treatment with growth hormone or anabolic steroids. Mean CA was 23.3 +/- 5.6 years. Chromosomal anomalies were: monosomy X 56%; mosaicism 37.2%; structural aberration 10.6%. Mean final height in the whole group was 141.5 (129-160) cm. There was no significant difference in height between the three groups: monosomy X (n = 121: 141.1 +/- 6.4 cm); mosaicism (n = 72: 141.5 +/- 7.5 cm); X anomaly (n = 23: 141.4 +/- 5.0 cm). Mean parental height was 170.4 +/- 7.1 cm (father) and 160.1 +/- 6.2 cm (mother). Parental height and patients' heights correlated significantly, but more so with fathers' heights (r = 0.50) than with mothers' (r = 0.42). The correlation was still apparent with the target height (r = 0.55). The results of different series in the literature show the existence of significant variations as mean final heights are between 136 and 147 cm. These differences can be explained by the variations in normal female heights in each country. We have found in these different countries a very strong correlation (r = 0.91) between normal height and final height in Turner's syndrome.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1994

A phase II study of recombinant human granulocyte-colony stimulating factor (rHuG-CSF, lenograstim) in the treatment of agranulocytosis in children.

The present study evaluated the clinical efficacity and tolerability of the subcutaneous (SC) administration of lenograstim, a glycosylated form of rHuG-CSF identical to human G-CSF, in the treatment of congenital agranulocytosis. Assessment criteria included neutrophil response and response stability, incidence and severity of infection and gingivostomatitis and quality of life. Lenograstim, at induction dosages of 5 (n = 9), 10 (n = 2) or 20 (n = 1) microgram/kg/day SC, produced neutrophil recovery in all of 12 children with congenital agranulocytosis. There was a median delay of 7 days to recovery after establishment of the effective induction dose. Whereas this dosage maintained a stable neutrophil response in 7 patients, the remaining 5 required dosage increases and dose reduction during maintenance therapy was not possible in these 5 cases. Among 4 patients stabilised at a dosage of 5 micrograms/kg/day, in 2 cases a lower minimum effective dose of 2 micrograms/kg/day was attained over the maintenance phase. Administration of twice the daily dose of lenograstim on alternate days was feasible in 3 of 8 patients. Lenograstim therapy reduced the incidence of infection and hospitalisation for infection relative to the prestudy period, while in 6 of 9 cases there was complete recovery from gingivostomatitis. Only one patient discontinued treatment on account of adverse events. Finally, perceived health and disease related symptoms showed a significant (p < 0.001) amelioration in the course of the study. Thus, lenogastrim produced sustained neurotrophil recovery in patients with congenital agranulocytosis, decreased the incidence and severity of infection and improved the quality of life.

Adolescent↗
PubMed1993

[Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies].

Prenatal treatment based on administration of dexamethasone to the mother during pregnancy was initiated early during nine pregnancies with a high risk of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The purpose of this treatment was to prevent fetal virilization by reducing production of androgens by the adrenal glands. Prenatal diagnosis was achieved by comparing amniotic fluid cell HLA genotypes and more recently by subjecting trophoblasts to molecular genetic studies. Together with prenatal determination of fetal sex, this allowed to determine that only two female fetuses were affected. Efficacy of continued prenatal treatment in these two cases was good in one case and mediocre in the other. The treatment was well tolerated by the mothers and fetuses.

Adrenal Hyperplasia, Congenital↗
PubMed1993

[Lissencephaly. Clinical, electroencephalographic and radiological aspects].

We report 2 cases of lissencephaly and review the cardinal symptoms: microcephalia, mental retardation, pyramidal syndrome and generalized epilepsy. CT-Scan and MRI show the anatomical abnormalities of this malformation: microcephalia, smooth cortex reducing the surface of white matter and lack of sulci and gyri. The fact that the myelin is normal on MRI suggests that this major disorder of neuronal migration does not come from radial glial fibers.

Cerebral Cortex↗
PubMed1993

[Discovery, in neonatal screening, of 2 families carrying a syndrome of generalized resistance to thyroid hormones].

The syndrome of generalized resistance to thyroid hormones is being increasingly diagnosed, albeit often belatedly. In the two families described herein the diagnosis was established when moderately elevated thyrotropin levels were found upon neonatal screening of a family member. The family studies identified other affected members with a pattern indicating autosomal dominant inheritance. Clinical and laboratory findings in the neonates were consistent with normal thyroid function and no treatment was given. In one neonate, fibroblast nuclear receptor studies failed to detect decreased affinity for triiodothyronine, a finding reported in most previously published cases; the mutation in this patient was different from the one described in 1989 by Sakurai et al., consistent with the known genetic heterogeneity of this syndrome. It has been suggested recently that treatment of affected neonates with large doses of thyroid hormones is safe and effective in ensuring normal growth. The neurodevelopmental effects of this treatment are unknown. Early treatment is possible when the syndrome is detected neonatally. We therefore advocate routine T4 assays in neonates with moderately elevated TSH levels.

Female↗
PubMed1993

[Klinefelter syndrome in 1993. Results of a multicenter study on 58 cases and review of the literature].

A retrospective multicenter study found 58 cases of Klinefelter syndrome of which 23 (39%) were diagnosed before puberty. Although as common as Down syndrome, Klinefelter syndrome is underdiagnosed and often recognized only in adulthood. Suggestive manifestations in infants, children, and teenagers include facial dysmorphism, micropenis, and delayed speech and should lead to examination of the karyotype. Early recognition of Klinefelter syndrome could be achieved by routinely measuring the size of the testes in school-boys aged 11 to 15 years and performing a karyotype in boys with a volume of less than 2 ml. Early psychological and educational support and testosterone replacement therapy initiated at onset of puberty may lead to improved social and academic outcomes.

Adolescent↗
PubMed1992

[Difficulties in diagnosis of frontal syndrome in epileptic children: clinical, diagnostic, physiopathological aspects. Apropos of 6 cases].

The authors report 6 cases of acute frontal syndrome following severe seizures of frontal origin. The study of the 6 cases shows the place of disorders in affectivity, behavior, judgement and motor activity; such features changing over time. The relationship between the frontal syndrome and epilepsy is suggested by the fact that the frontal syndrome appears after an increased frequency of frontal seizures, with prolonged discharges of generalized or frontal spikes. The frontal syndrome disappears slowly with the epileptic discharges, and no frontal lesion is found on CT-Scan. Such cases suggest that the frontal syndrome is functional, linked to the localization of the epileptic discharges; it may be regarded as a post-critic deficit, and must be differentiated from a post-critic delirium or a psychotic state.

Adolescent↗
PubMed1992

New autosomal recessive chondrodysplasia--pseudohermaphrodism syndrome.

Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.

Abnormalities, Multiple↗
PubMed1992

[Dopa-sensitive muscular dystonia. Segawa's syndrome. A case report].

A four-year-old girl developed difficulty in walking due to dystonia of the right then left foot, rest tremor in both hands, and rigidity. These symptoms worsened upon exertion and in the evening and were remarkably responsive to L. dopa, suggesting the diagnosis of fluctuating muscular dystonia or Segawa syndrome.

Child, Preschool↗
PubMed1991

[Identification of temporal epilepsy in children: contribution of sphenoidal electrodes].

The authors have evaluated the indications, method and results of utilising sphenoidal electrodes in epilepsy. This method makes it possible to study the hippocampal area which cannot be studied by extra-cranial electrodes. It also localizes in the temporal lobe complex seizures without investigation by an electroencephalogram, or with a non-specific electroencephalographic picture. Thus, sphenoidal electrodes enable temporal seizures to be identified and localized, leading to more specific neuroradiological exploration, and therefore to the selection of patients for specific surgery.

Adolescent↗
PubMed1991

[Vertex spikes in newborn infants in acute cerebral anoxia. Prognostic value].

The authors report 10 cases of newborns with neonatal hypoxic encephalopathy and presence of spikes in the vertex area on EEG. Evolution was characterized by the onset of a spastic paraparesy with frontal atrophy on CT scan examination and disappearance of the spikes after 2 months of age. This graphic pattern is usually absent in neonatal anoxic encephalopathy. Vertex spikes thus appear to have a prognostic value in neonates with brain anoxia.

Acute Disease↗
PubMed1991

[Apert's syndrome with polymetatarsia].

Three cases of acrocephalosyndactyly with duplication of the first toe and presence of six well-individualized metatarsals are reported. This type of polysyndactyly should suggest the diagnosis of Carpenter syndrome, which is inherited on a recessive autosomal basis. However, in the three patients reported here, the facial dysmorphism was distinct from that seen in Carpenter syndrome and the syndactyly was more marked. The correct diagnosis therefore seems to be Apert acrocephalosyndactyly, a disease with dominant transmission. A mutation seems very likely and consequently the risk of recurrence in siblings is probably minimal.

Acrocephalosyndactylia↗
PubMed1991

[Multiple sclerosis in children. Impact of memory disorders].

Three cases of multiple sclerosis, characterized by disorders of superior functions such as memory loss, either isolated (1 case) or as part of a frontal syndrome (2 cases) are reported. The importance of these disorders, often presenting as the main symptoms, their good prognosis and their rarity in adulthood are underlined. From a pathophysiologic point of view, the authors discuss the role of the frontal, near the limbic area, localization of the plaques.

Adolescent↗
PubMed1990

Hemiballismus revealing multiple sclerosis in an infant.

The authors report a case of a 15-month-old infant who presented a left hemiballismus associated with left Marcus-Gunn pupil, and retrobulbar optic neuritis, which disappeared spontaneously in 7 days. Six weeks later, the infant experienced a mild paraparesis with a palsy of the left sixth cranial nerve, which disappeared following steroid therapy. Evoked visual potentials elicited abnormal latencies; cerebrospinal fluid (CSF) showed a rise in white cells and oligoclonal bands. According to the usual classification, this case corresponds to definite multiple sclerosis. The fact that hemiballismus was the initial clinical feature in an infant makes this observation very interesting. In the literature, eight cases of hemiballismus in patients with multiple sclerosis are reported; however, only two cases of multiple sclerosis in infancy have been published, making our case report of particular interest.

Evoked Potentials, Visual↗