Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.

A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 3 1/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acylamide gel electrophoresis. Under the electron microscope, biopsy specimens of the brain and the peripheral nerve showed lamellar structures with socalled zebra bodies in the cytoplasmic processes of glial cells, granulo-membranous inclusions with fingerprint configurations in neurons, and myelinlike material in Schwann cells. Results from our study suggest an intricate nature of this dysmetabolic disorder, which shows ultrastructural changes usually seen in classic MLD, a deficiency of arylsulfatase A only, concomitant with those seen in mucopolysaccharidoses such as Hurler and Sanfilippo syndromes.

Glucocorticoid receptor concentrations in human lung at different growth stages.

We measured glucocorticoid receptor concentrations in human lung at different stages of alveolar growth. Lung tissue was obtained from 9 surgically aborted or stillborn fetuses of 15 to 28 weeks gestational age, and from 6 infants and children, aged 2 months to 9 years, after lobar resection or at autopsy. Samples were taken from macroscopically healthy areas. Lung histology was performed in all cases. The receptor assay was done by establishing saturation curves for labeled dexamethasone in the absence or presence of a hundredfold excess of unlabeled dexamethasone. Total binding capacity and the dissociation constant were calculated from the saturation curves by the method of Scatchard. The receptor concentration in the fetuses was high (182 +/- 88 fmol/mg prot.), irrespective of gestational age. The lowest concentration (35 fmol/mg prot.) was found in a fetus with pulmonary hypoplasia. In the infants and children the mean receptor concentration was significantly lower (14.6 +/- 9.9 fmol/mg prot.); these included a case of sudden death in which the parenchymal structure was normal.

Cerebrospinal fluid cytomorphology in neonates.

A prospective cytologic study of cerebrospinal fluids from 57 full-term neonates confirmed the previously reported cellular polymorphism. The cells were classified as (1) exogenous cells, (2) blood and bone-marrow cells, (3) histiomonocytes, (4) cell aggregates and (5) "free" cells. Histiomonocytes were a constant feature in these fluids and were the cause of neonatal pleiocytosis. Various degrees of activation could be recognized. The so-called inactive forms were closely related to brain damage. Identification of erythrophages and siderophages had diagnostic significance. The presence of fat in macrophages (lipophages) suggested a serious developmental disorder. The free cells were incompletely identified, as were the cell aggregates, which probably originate in the meningeal lining. Both require further study.

[Rapid screening for neonatal infection by employing new techniques for the use of the nitroblue tetrazolium test (NBT) (author's transl)]. / Dépistage rapide de l'infection néonatale par le test au nitrobleu de tétrazolium réalisé selon des modalités nouvelles.

A new method for carrying out the nitroblue tetrazolium test (NBT) has been used on micro-specimens taken from 116 newborn infants for the purpose of carrying out a prospective enquiry into neonatal infection. 44 children aged from 1 to 6 days were selected at random from a population that was said to be normal in the maternity unit and were the control group. 72 children of less than 48 hours of age were made to object of a prospective study of neonatal infection, an enquiry that allowed them to be divided into 3 groups: non-infected, infected and suspect. The study showed a very strong correlation between raised scores (higher than 100) and the presence of an infection, whereas scores in the controls and the non-infected infants were low. This test, which is hardly invasive and easy to introduce as a routine when carried out early is a good screening test for infection and can be best used on the newborn population in a maternity unit.

[Newborn infants of mothers with cardiopathy or nephropathy]. / Des nouveau-nés de mère atteinte de cardiopathie ou de néphropathie.

The prognosis for pregnancy in chronically ill women (mainly heart or kidney diseases) has improved dramatically. However, despite a decrease in the parent's mortality, foetal mortality and morbidity remains unchanged because of the consequences of the mother's disease and treatment on foetal physiology. The mother must be informed of the risks and the medical supervision during the pregnancy. The follow-up and the medical and/or surgical management during pregnancy and at birth are discussed. Pregnancies in women with heart diseases often have a favourable outcome. In women with renal failure, transplantation can result in a successful pregnancy and the birth of a healthy child. The pediatrician is involved in all decisions during pregnancy and must undertake long-term surveillance of the child in order to detect for any somatic or psychological abnormality which might appear later on in life.

[Maternal treatment with indomethacin and severe neonatal pulmonary hypertension (author's transl)]. / Utilisation obstétricale de i'indométacine et risques d'hypertension artérielle pulmonaire néonatale sévére.

The authors report five cases of premature newborns whose mothers had been treated with indomethacin. In all patients, clinical and biological symptoms were those of pulmonary hypertension with persistence of the fetal circulation. In two cases, autopsy showed an important reduction of the lumen of pulmonary arterioles due to a thickening of the tunica media. The role of indomethacin in such respiratory syndrome is very likely. Therefore, indications for that treatment in pregnant women should be reduced.

[Renal papillary necrosis in an infant]. / Necrose papillaire des reins chez un nourrisson

Report of a case of renal papillary necrosis in an infant, following acute dehydration with cardio-vascular failure. Evolution was favourable and diagnosis was established retrospectively by I.V. urogram.

[Asymmetrical hypertrophic cardiomyopathy in neonates of diabetic mothers]. / Hypertrophie septale asymétrique du nouveau-né de mère diabétique.

In 11 neonates of diabetic mothers echocardiography was systematically performed and led to the discovery of 6 cases with hypertrophic cardiomyopathy. This abnormality, which may induce cardiorespiratory failure, is usually benign and consists of systolic murmur and transitory cardiomegaly; all these symptoms spontaneously regress within a few weeks. This cardiomyopathy may present with obstructive signs requiring treatment with beta adrenergic blocking agents; however, it is more often pure and needs no treatment. It may be observed after pregnancies that were not well supervised and might be induced by fetal hyperinsulinism.

[Signification of fibrinogen degradation (FDP) product in CSF during the neonatal period (author's transl)]. / Signification de la présence des produits de dégradation de la fibrine et du fibrinogène dans le liquide céphalo-rachidien à la période néonatale.

Results of a prospective study on neonatal brain damage are reported. 57 full term newborns were subjected to clinical examination with a one year follow-up. Blood and CSF were sampled for FDP determinations on days J1, J3, J8 and when necessary, J15. Traumatic punctures do not alter results. FDP measurement were negative in the whole blood samples and most CSF ones. High FDP values in early samples are linked to brain damage and values above 4 micrograms/ml are significantly correlated to neurological sequelae.

Fibrin-fibrinogen degradation products in cerebrospinal fluid as an indicator of neonatal brain damage.

The occurrence of brain damage in 57 full term neonates was investigated. The infants were submitted to a prospective protocol involving clinical (neurological and electroencephalographical) and biological examinations, including the determination of the fibrin-fibrinogen degradation products in the blood and cerebrospinal fluid on D1, D3, D8 and D15. Psychomotor events were followed up for a year. Traumatic lumbar taps did not disturb the results significantly. Blood samples were not found to contain noticeable amounts of FDP. Conversely, the existence of FDP in CSF was not infrequent near to delivery and was shown to be closely related to brain damage as evaluated by the psychomotor events.

Enzyme studies and neonatal brain damage.

The authors report a double-blind study of 57 full-term newborn infants prospectively subjected to clinical, electroencephalographical, blood and cerebrospinal fluid, and developmental examinations. Four enzymatic activities were measured in blood and CSF: aminotransferase (ASAT), creatine kinase (CK), lactate dehydrogenase (LD) and hydroxybutyrate dehydrogenase (HBD). Close relationships of enzymatic levels with psychomotor outcome are reported. In blood, ASAT and CL seemed to be the most important determinations, allowing threshold-values to be suggested. In CSF, LD and HBD were the determinations the most closely related to psychomotor events at age one. This method seems to be of theoretical as well as practical importance in evaluating neonatal brain injury.

[C-reactive protein and orosomucoid determinations in a neonatal pathology unit]. / Dosages de C-réactive protéine et d'orosomucoïde dans une unité de pathologie néonatale.

We report the result of CRP and ORM assays performed at the admission in the unit, in 157 neonates (NN). The NN were divided into 3 groups: 122 "controls" (group I), 21 having septicemia with or without meningitis but with symptoms of infection (group II), 16 having a positive blood culture without symptom of infection (group III). In group I, the CRP level does not depend on gestational age at birth, neither on the age at the assay. The level of ORM depends on both factors. Neonatal infection leads to a very significant rise of the CRP rate (often above 100 mg/l). The rise of ORM is not so dramatic. These data suggest that the assay of these two proteins are useful in the diagnosis of neonatal infection if they are performed together and at several times.

[Farber's lipogranulomatosis. Apropos of a case]. / Lipogranulomatose de Farber. A propos d'un cas.

A case of Farber's lipogranulomatosis is described in an 18 month-old girl. There was clinical evidence for diagnosis, which was confirmed by a ceramidase activity assay on cultured fibroblasts. A study of the conjunctiva by electron microscopy was performed. The authors emphasize the clinical and biological characteristics of such cases.

[Prenatal diagnosis of congenital cerebral tumors. Apropos of 3 cases]. / Diagnostic anténatal des tumeurs cérébrales congénitales. A propos de 3 observations.

BACKGROUND: The prognosis for congenital brain tumors is usually poor, so that their management during pregnancy is difficult. CASES REPORTS: Case 1. A large cystic mass was revealed by ultrasound at the 37th week of pregnancy; it was located near the brain stem and was associated with ventricular dilation. The newborn was delivered by cesarean section because of an abnormally enlarged head. The CT scan confirmed the presence of this mass containing a fluid that was found to be normal after needle aspiration. Surgical shunting of excess fluid was ineffective, and progressive deterioration prevented further exploration and/or treatment. The child is still living, confined to his bed, at the age of 5 years. Case 2. Ultrasonography at the 30th week of pregnancy showed a tumor located near the brain stem with dilation of the entire ventricular system. Post mortem examination after abortion revealed a capillary and cavernous hemangioma. Case 3. Ultrasonography at the 34th week of pregnancy showed dilation of the ventricular system. As a result, birth was induced. CT scan and MRI of the newborn showed a mixed, solid and liquid, mass in the posterior fossa. Post mortem examination showed a papilloma of the choroid plexus. CONCLUSION: These rare congenital tumors are usually revealed by ultrasonography showing ventricular dilation. Advances in imaging techniques, especially MRI of fetal brain, should help in the management of such tumors.

[Pseudohypohyperparathyroidism or Frame's pseudohypoparathyroidism type I]. / Pseudohypohyperparathyroidie ou pseudohypoparathyroidie type I de Frame

Case report of a girl with fibrous osteitis lesions associated with clinical and biological symptoms of pseudo-hypoparathyroidism: hypocalcemia, hyperphosphoremia, absence of increase of phosphaturia (urine phosphate level) and especially of cyclic AMP after parathormone injection, high serum parathormone level. Similar cases described in literature are shortly analyzed. The genetic, pathogenic and nosologic problems of such an association are reviewed.

[Echovirus encephalitis during Bruton disease. Favorable development. Therapeutic problems]. / Encéphalite à virus écho au cours d'une maladie de Bruton. Evolution favorable. Problèmes therapeutiques.

A 16 year old boy with Bruton type agammaglobulinaemia developed acute encephalitis. Echo virus type 3 was isolated on two occasions from the same sample of CSF. Clinical improvement occured after treatment with gammaglobulin with high anti-Echo virus titers given intramuscularly and intrathecally. However the C.S.F. protein is still raised so that it is not certain he has been completely cured.