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Biomedical subjects

J L Nivelon

Publications and source records attributed to J L Nivelon.

At least 37 records · Page 2Linked to original sources
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↗
PubMed1989

[Familial benign neonatal seizures: EEG, clinical, prognosis and genetic features].

The authors describe 3 families in which several members presented convulsions exclusively during the neonatal period. The EEG and clinical findings showed typical short neonatal convulsions lasting several months and with no apparent etiology. The dominantly inherited transmission is certain. Prognosis is very good, although 14% of the cases in the literature present an onset of epilepsy after 20 years of age. Even though this phenomenon is unusual, the rarity of its description probably stems from lack of knowledge rather than low incidence. We thus would like to show that, even in the neonatal period, familial epilepsy can occur.

Female↗
PubMed1989

[Advantages of a single daily dose of sodium valproate in the child].

This study was aimed at testing the efficacy and innocuousness of a single dose of sodium valproate (SV) for the treatment of epilepsy, as compared with 3 daily doses. It was tested on 35 children, 5 to 15 years of age, presenting with the idiopathic form of generalized epilepsy. At the end of one year of treatment with 20 mg/kg/day of SV in 3 daily doses, the children were given a single dose at 8 PM daily. Every 3 months for a period of one year, patients were examined in order to monitor the clinical efficacy and side effects, liver function tests and serum levels of SV at 9 AM and 6 PM. Twenty patients who were well controlled with 3 daily doses had no fits with the single dose treatment. Ten patients, who had had one fit every 6 months during the observation year had no convulsions during the year on a single dose: however, 5 others who had had one fit every 6 months with 3 doses, had fits with the same frequency with the single dose treatment. There were no side effects. SV plasma levels at 9 AM were always higher than those at 6 PM. The efficacy of a single dose may result from the action of SV which increases the intra-cerebral levels of GABA, which are delayed and prolonged.

Adolescent↗
PubMed1989

[Epilepsy with rolandic paroxysms and migraine, a non-fortuitous association. Results of a controlled study].

The incidence of migraine was studied in 4 groups of patients: patients with centro-temporal epilepsy, patients with absence of epilepsy, patients with partial epilepsy, and non-epileptic patients with a history of cranial trauma. Migraines were present in 62% of the patients with centro-temporal epilepsy, 34% of the patients with absence of epilepsy, 8% of the patients with partial epilepsy and 6% of the patients with cranial trauma. These results suggest that the association of centro-temporal epilepsy and migraine is non-fortuitous as well as, to a lesser degree, absence of epilepsy and migraine. The authors discuss the role of serotonin in the association epilepsy-migraine and suggest that centro-temporal epilepsy might be a feature for the diagnosis of migraine.

Adolescent↗
PubMed1989

[Collaboration between child psychiatry and medical genetics. Genetic diseases with an atypical beginning].

When a children psychiatrist, faced to atypical psychological troubles, comes up against difficulties in establishing a precise diagnosis, he may consider a genetic etiology and ask for a genetic consultation. He may encounter many problems when he suggests this specialized consultation to the parents. These have often been prepared for a long time to the necessity of a psychiatric therapy in order to cure their child's troubles. The geneticist's diagnosis will induce the parents and the psychiatrist to have a different look on the child and mostly will set limits to the possibilities of treatment.

Child↗
PubMed1988

Coffin-Lowry syndrome: a multicenter study.

The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.

Adult↗
PubMed1988

Serum lipoproteins in venous blood serum from birth to the end of the first week: feeding influences.

Serum lipoproteins were explored on the first day of life (D1) and on the sixth day (D6) in blood drawn by peripheral venipuncture from 43 normal term newborns, 22 breast-fed and 21 formula-fed, and were compared to those of a control group of 28 young adults. With the exception of apolipoprotein E (Apo E), values of lipoprotein components obtained at D1 were similar, although generally slightly lower than those previously reported for cord blood serum. Total Apo E concentration at D1 (71 +/- 25 mg/l) was much higher than that obtained for the adult group (30 +/- 7 mg/l). Apo E distribution within the lipoprotein spectrum confirmed the presence of an already known Apo E-rich high density lipoprotein subfraction, which was responsible for the high total Apo E level at birth. The rise of lipoproteins of low density from D1 to D6, as evidenced by the increase of very low density lipoprotein + low density lipoprotein cholesterol and low density lipoprotein apolipoprotein B concentrations, was shown to be diet dependent. It was significantly less important in newborns fed a standard formula moderately enriched in unsaturated fatty acids than in breast-fed newborns.

Apolipoproteins B↗
PubMed1988

Alterations of serum high-density lipoproteins and hepatic lipase activity in congenital hypothyroidism.

Fourteen term newborns and infants with congenital hypothyroidism were studied before (T0) and after (T1) 1 month of replacement therapy. From T0 to T1 serum total cholesterol and high-density-lipoprotein cholesterol remained constant and at normal levels whereas low-density-lipoprotein apolipoprotein B and triacyglycerol concentrations increased slightly. The proportion of large-size high-density-lipoprotein subfraction was high at T0 and decreased very significantly at T1. Conversely, postheparin serum hepatic lipase activity was low before treatment and increased after thyroxine therapy. Lipoprotein lipase activity remained low throughout the study. These results suggest that, in contrast to adult hypothyroidism, low-density-lipoprotein catabolism is not altered in congenital hypothyroidism. However, as in adults, a defect of lipolytic enzyme activities is present and can induce an impairment of the elimination of cholesterol via the high-density-lipoprotein route and, potentially, of the catabolism of triglyceride-rich lipoproteins. Beyond the scope of congenital hypothyroidism, one should keep in mind these results when attending infants with transient low thyroid hormone levels and lipid intolerance.

Congenital Hypothyroidism↗
PubMed1988

[Neurophysiological study of peripheral nerves in newborn infants with congenital hypothyroidism. Value in the surveillance of replacement therapy].

The authors studied prospectively with electrophysiological means, peripheral nerve maturation of 18 neonates with congenital hypothyroidism compared to 18 controls. Before replacement therapy, a large reduction of sural nerve action potential amplitude and of Hoffmann's reflex was observed. It was accompanied by a moderate reduction in nerve conduction velocity. These results imply a myelinic and even more an axonal pathology. It is related to the anatomical type of hypothyroidism and to serum T4 deficiency. It is transient and disappears after 6 months of hormonal replacement therapy. In conclusion, this study gives new informations on the consequences of congenital hypothyroidism on peripheral nerves.

Congenital Hypothyroidism↗
PubMed1987

[Treatment of citrullinemia. Apropos of a case followed from birth. Importance of alpha-ketonic acids].

From day 1 to day 3, the protein intake of this neonate was restricted to 1 g/kg/d. It included a) essential amino acids (i.e. histidine, lysine, threonine, tryptophan), b) arginine (1,000 mg/d), c) alphaketoisovaleric 500 mg/d, alpha-ketoisocaproic (500 mg/d), alphaketobetamethylvaleric (500 mg/d), alphaketogammamethylthiobutyric (200 mg/d), betaphenylpyruvic (400 mg/d) acids. 250 mg/kg/d of sodium benzoate were given. Caloric and water intakes were 120 cal/kg/d and 120 ml/kg/d respectively. Afterwards, this procedure was modified according to clinical and biological data including serum ammonia and amino acid levels. Alpha-ketonic acid absorption and metabolism were studied on day 29. Both were fast. The detection of alloisoleucine, which is not metabolized was the consequence of the use of alphaketobetamethylvaleric acid. Until the age of 21 months, clinical and metabolic status was satisfactory. At this time, repeated seizures without metabolic failure were accompanied by psychomotor damages.

Amino Acid Metabolism, Inborn Errors↗
PubMed1987

[Second prenatal diagnosis in a familial form of male pseudohermaphroditism caused by 17 keto-reductase deficiency: prediction confirmed by a normal third male infant].

In the first child of this family, the diagnosis of male pseudo-hermaphroditism due to 17 keto-reductase deficiency was established at two months of age after HCG test. During the second pregnancy, amniocentesis was performed for fetal karyotype and steroid determination in the amniotic fluid: an affected male fetus was suspected and this prediction was confirmed at birth. For the third pregnancy, a prenatal diagnosis was requested again and made, according to the same procedure: a normal male fetus was predicted and this diagnosis was confirmed at birth; this study demonstrates the feasibility and reliability of a prenatal diagnosis for 17 keto-reductase deficiency.

17-Hydroxysteroid Dehydrogenases↗
PubMed1987

[Gastric teratoma disclosed by neonatal digestive hemorrhage].

A gastric teratoma diagnosed after a gastro-intestinal tract bleeding in a neonate is reported. The endogastric tumor was shown by gastric endoscopy. The tumor was pediculated and a simple tumorectomy was performed, without trouble later. Fifty-three other cases have been found in the literature. Most of them presented with abdominal distension and a palpable mass; diagnosis was always made after surgery and the diagnosis of mature gastric teratoma was confirmed by histological examination. These rare tumors are always of benign nature, but are often revealed by complications. Their frequency is less than 1% of infants teratoma and 85% are found in the first year of life; they are more frequent in males.

Gastrointestinal Hemorrhage↗