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. Mean levels of NGF in preterm infants (n = 9; 13.7 +/- 8 pg/mL) were significantly lower than levels in term infants (n = 47; 21.2 +/- 8.8 pg/mL; p = 0.034 by Mann-Whitney U test). There was no correlation between birth weight, length, head circumference, and beta-NGF levels. In microcephalic children, NGF levels were low (8 pg/mL) compared with control infants' values (22 pg/mL). In adults, beta-NGF levels were higher and ranged between 238 and 292 pg/mL. Our study demonstrates that beta-NGF levels can be assessed in human newborn sera using a two-site enzyme immunoassay with MAb 27/21 to mouse beta-NGF, that beta-NGF levels are extremely low in newborns compared with adults, that beta-NGF levels seems to show developmental changes, and that beta-NGF levels may be used to assess NGF utilization under normal and pathologic conditions such as cerebral malformations.

[Unilateral cerebellar atrophy in 2 newborn infants. Value of MRI]. / Atrophie cérébelleuse unilatérale chez 2 nouveau-nés. Intérêt de l'IRM.

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. MRI seems to be a useful tool in the recognition of cerebellar malformations in the neonatal period.

[Contribution of transcranial Doppler sonography to the diagnosis of brain death in children]. / Apport de l'examen Doppler transcrânien au diagnostic de mort cérébrale chez l'enfant.

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. In the 6 surviving children (all except one with severe deficits), after an initial reduction but never to a retrograde flow, arterial cerebral blood flow velocity increased to high diastolic values before normalization. Transcranial Doppler technique is non invasive, reliable, can be used at the bedside and repeated; it allows evaluating the cerebral blood flow in comatous children and represents a useful adjunct to brain death diagnosis.

[Familial congenital adrenal hyperplasia caused by 11 beta-hydroxylase. Failure of prevention of sexual ambiguity and prenatal diagnosis]. / Observation familiale d'hyperplasie congénitale des surrénales par déficit en 11 beta-hydroxylase. Echec de la prévention de l'ambiguïté sexuelle et du diagnostic anténatal.

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. The treatment was interrupted for 5 days, at the 20th week, because of amniocentesis. As the amniotic steroid concentrations were normal, the treatment was stopped. Nevertheless the neonate also has severe virilization of the external genitalia and postnatal hormonal studies confirmed the diagnosis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. The reasons for the failure of the treatment are analyzed.

[Severe theophylline poisoning in children. Value of hemodialysis with high permeability membrane]. / Intoxication grave à la théophylline chez l'enfant. Intérêt de l'épuration par hémodialyse avec membrane de haute perméabilité.

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).

[Severe hypertrophic cardiomyopathy associated with an adrenocortical adenoma]. / Myocardiopathie hypertrophique sévère associée à un corticosurrénalome.

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]. / Kyste congénital du cholédoque révélé par une hémobilie.

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.

[Recklinghausen's disease and pseudohermaphrodism]. / Maladie de Recklinghausen et pseudo-ambiguïté sexuelle.

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.

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.

[Linkage between the gene responsible for adrenal hyperplasia caused by 21-hydroxylase deficiency and chromosome-6 short-arm markers]. / Liaison entre le gène responsable de l'hyperplasie surrénalienne par déficit en 21 hydroxlase et les marqueurs de bras court du chromosome 6.

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. In the families including at least one patient, these studies permit to tract the heterozygotes and to make a very early or even antenatal diagnosis.

[Cerebral tumors of primitive germinal origin]. / Les tumeurs cerebrales primitives d'origine germinale.

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. Several histological types may be distinguished by the degree of differentiation but the stromal reaction, which is partly responsible for the symptoms, is always present. The clinical course of the illness is biphasic. The first is manifest by endocrine disorders and is of relatively long duration. Water homeostasis is always affected and may be associated with other hypothalamic disorders. In the second phase, neurological symptoms and raised intracranial pressure appear. Surgical removal is not always possible, but radiotherapy improves the outlook.

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. Autophagic vacuoles were randomly distributed in the cytoplasm of the cells from the granulocytic series and some of them contained giant granules which thus appeared particularly resistant to the autophagic process. The vital cellular damage through endophagocytosis suggests the possibility of intramedullary destruction as an explanation for neutropenia.