Beta-nerve growth factor levels in newborn cord sera.

This study was designed to examine beta-nerve growth factor (NGF) levels in human cord blood by a two-site enzyme immunoassay using MAb 27/21 to mouse NGF and to determine whether beta-NGF levels show developmental changes. Blood was collected at delivery from 61 newborns, 55 neonates appropriate for gestational age (46 term infants and 9 premature infants), 5 neonates small for gestational age, and 1 neonate with congenital hydrocephalus. In addition, samples were collected from 2 microcephalic children (microcephaly vera) aged 15 and 18 mo, 2 control children, and 4 healthy adults.

[Unilateral cerebellar atrophy in 2 newborn infants. Value of MRI].

The authors report 2 cases of unilateral cerebellar atrophia presenting in the neonatal period with facial peripheral palsy and iso-immune thrombocytopenia respectively. The recognition of cerebellar atrophia has been made by MRI. Unilateral cerebellar atrophia be due to ischemia.

[Contribution of transcranial Doppler sonography to the diagnosis of brain death in children].

Brain death can be characterized by cessation of cerebral blood flow. We have measured blood flow velocity in cerebral arteries of 17 comatous children with a transcranial pulsed Doppler equipment. In 11 children who progressed to brain death, we have recorded a progressive decrease of Doppler signal with the following steps: decrease of diastolic velocity, no diastolic velocity, reverse diastolic flow, decrease of systolic signal, no signal at all.

[Oral evaluation in various pathological conditions in children].

The current knowledge concerning the study of dental cavities cannot account for all clinical aspects of some subjects' resistance to cavity formation. This work concerned, in a first stage, the study of dental anomalies (number, shape and structure), in different groups of children with common diseases. This study has enabled us to evaluate the caries index of the same groups of children.

[Familial congenital adrenal hyperplasia caused by 11 beta-hydroxylase. Failure of prevention of sexual ambiguity and prenatal diagnosis].

In a sepharad family from Morocco, 2 children out of 4 had congenital adrenal hyperplasia with 11 beta-hydroxylase deficiency. The index case had a very severe genital masculinization (Prader V), diagnosed at 18 months of age. For the fourth pregnancy, dexamethasone was given from the 8th to the 24th week of amenorrhea, in order to prevent the virilization of a female fetus.

[Severe theophylline poisoning in children. Value of hemodialysis with high permeability membrane].

The authors report a massive accidental ingestion of enteric-coated theophylline (Armophilline ) by a young child. A status epilepticus and elevated theophylline serum concentration (167 mg/l) led to use hemodialysis with high dialytic clearance. The elevated clearance was obtained by the use of high permeability membrane, by bicarbonate dialysate and the best quality of vascular access (Hickman catheter).

1-year treatment with recombinant somatropin in prepubertal and pubertal growth hormone deficient patients: results from a French multicentre trial.

In this French study with recombinant somatropin, the stimulation of growth in 32 prepubertal (age 10.0 +/- 3.5 years; mean +/- SD) and 19 pubertal (age 14 +/- 1.

[Severe hypertrophic cardiomyopathy associated with an adrenocortical adenoma].

A case of severe asymmetrical hypertrophic cardiomyopathy occurring in a 11 month-old infant presenting with adrenocortical adenoma is reported. Cardiac involvement, as shown by echocardiography, recovered after complete excision of the tumor. Despite few published cases, the etiology of the associated cardiomyopathy is discussed.

[Congenital cyst of the choledochus manifested by hemobilia].

A 18-months-old boy, without antecedent nor abdominal trauma, revealed a congenital choledochal cyst by massive hemobilia. This way of revelation is extremely rare and to our knowledge has not been previously reported. The difficulties of diagnostic and surgical management are discussed.

Inhibitory action of serum from a Laron dwarf on normal cellular function.

Glucose uptake and O2 consumption of confluent glial cells grown in culture were measured in the presence of serum-free buffer and compared with those measured in the presence of serum from a normal volunteer, from an hGH-deficient dwarf and from a Laron dwarf. Cellular glucose uptake and respiration in the absence or presence of insulin or hGH are inhibited by Laron serum.

[Recklinghausen's disease and pseudohermaphrodism].

A clitoral hypertrophy in a girl presenting with Recklinghausen's disease should suggest the possibility of a local neurofibromatosis without any endocrine etiology. Thirteen cases collected in the literature and a new one reported here, give the opportunity to discuss such a possibility. Better knowledge of this unusual localization should, in each case, allow to discuss the extent of hormonal investigations needed.

[Linkage between the gene responsible for adrenal hyperplasia caused by 21-hydroxylase deficiency and chromosome-6 short-arm markers].

In six patients from four different families, the study of the genetic markers of te short arm of chromosome 6 allows to confirm the situation of the gene responsible for congenital adrenal hyperplasia by deficiency of 21 hydroxylase. Thanks to the discovery of a recombination of the maternal haplotype in an affected girl. we consider the situation of the pathological gene with regard to that of the glyoxalase I gene.

[Stupor due to sodium valproate. Immediate arousal after intravenous diazepam (author's transl)].

A 7 year-old boy had had partial complex seizures from the age 6 years. Two days after commencing a treatment by VPA in a daily dose of 55 mg/kg body weight, disturbances of consciousness became obvious. He was admitted to hospital two days later.

[Cerebral tumors of primitive germinal origin].

The authors attempt to justify the term cerebral tumour of primitive germinal origin from four of their own cases and a review of the literature. They emphasise the specific features. The tumours are more common in boys and involve the pineal, the walls of the third ventricle, the hypothalamus and the posterior pituitary.

Autophagia in myeloid precursors: an explanation for neutropenia in Chediak-Higashi syndrome?

Neutropenia is an almost constant feature of Chediak-Higashi syndrome (CHS). There is evidence for a central mechanism of neutropenia. Ultrastructural studies of the bone marrow from a child with CHS showed marked autophagic phenomena within myeloid precursor cells and mature neutrophils.