[Acute poisoning with a narcotic (Tramadol) in an infant of five weeks]. / Intoxication sévère avec un opiacé (Tramadol) chez un nourrisson de cinq semaines.

Accidental rectal administration of 27 mg/kg of the narcotic analgesic Tramadol to a five-week-old infant resulted in severe cerebral depression, which had to be treated with Naloxone during 48 hours. The severity and the duration of this intoxication are not explained solely by the high dosage of Tramadol. A decreased elimination kinetics and an increased permeability of the blood-cerebrospinal fluid barrier probably also account for the pattern of the present intoxication.

[Maternal serum gamma-glutamyltransferase and prenatal diagnosis of the fetal alcohol syndrome]. / Gamma-glutamyltransférase sérique maternelle et dépistage prénatal du syndrome de l'alcoolisme foetal.

In order to investigate prospectively the relationship between maternal serum levels of a biologic marker of alcohol and the outcome of pregnancy, we measured serum gamma-glutamyltransferase in 541 women between 14 and 20 weeks of pregnancy. An abnormally elevated value was observed in 6.8% of the cases but only 16.2% of these suspected alcohol abusers admitted drinking practices during pregnancy. Analysis of obstetrical issue and blind examination of the newborns showed a significant correlation between raised gamma-glutamyltransferase levels and an increased incidence of pre-/perinatal complications, congenital anomalies and intrauterine growth retardation. However, the sensitivity of this test is weak, limiting its use in the early recognition and prevention of fetal alcohol effects.

Abused children admitted to a pediatric in-patient service in Switzerland: a ten-year experience and follow-up evaluation.

In a period of 10 years (1974-1983) 82 children were admitted to our pediatric in-patient service because of child abuse or neglect. In 1984 the records of these children were examined to obtain a follow-up of 34 children who were less than 10 years of age at the time of their admission for non-accidental trauma. Thirty-eight percent of these children were less than 2 years old at the time of abuse, 30% from 2-3 years (68% less than 3 years) and 32% between 3-10 years. The lesions were as described in the literature. There was a greater proportion of children of foreign origin than would be expected from the general population of Geneva. At the time of hospital admission the majority of the parents were legally married and the majority of the children were cared for at home by a parent or relative. The perpetrator in most situations remained unknown; universal denial was the rule and therapeutic treatment of the family difficult to establish. The general policy of the protective services in Geneva is to maintain the abused child with his biological family. Over time, however, there is a tendency for abused children to be either removed from their homes and placed in foster care or to receive stricter supervision within their families. A large proportion of the study children were experiencing school difficulties and attended special classes. A relatively large number had left the country, either with or without their parents. Risk factors recorded in the literature were identified.

Throat cultures for group A beta-hemolytic Streptococcus. Importance of anaerobic incubation.

The bacteriologic detection of group A Streptococcus in pharyngitis is vital in everyday practice to prevent serious potential sequelae. The purposes of this study were to determine whether throat cultures should be incubated in anaerobic atmosphere and whether an increased recovery rate could be obtained by stabbing of the plates (partial anaerobiosis) and by using a sulfamethoxazole-trimethoprim disk to enhance growth and identification. We examined 243 throat cultures, in duplicate, which were incubated in room air and in anaerobiosis (carbon dioxide, 10%). We found that, in aerobic incubation, the recovery rate of group A streptococci was 5.7%; in anaerobic incubation it was 19.8%. Stabbing of the agar to create a partial anaerobiosis was useless. When directly placed on the plate, the sulfamethoxazole-trimethoprim disk facilitated the identification of beta-hemolysis areas. To achieve maximum detection of group A streptococci in specimens obtained from the throats of infected children, we found that anaerobic incubation should be used.

[Gamma-glutamyltransferase in maternal serum and prenatal screening for the fetal alcohol syndrome]. / Gamma-glutamyltransférase sérique maternelle et dépistage prénatal du syndrome de l'alcoolisme foetal.

In order to investigate prospectively in pregnant women a correlation between serum levels of a biological marker of alcohol and the clinical status of the newborn, we measured the gamma-glutamyltransferase (GGT) in 630 women between 14 and 20 weeks of pregnancy. In 7% of the cases, an elevated value was observed while history confirmed alcohol consumption in only 1%. Preliminary statistical analysis established upon the blind examination of 308 newborns show a correlation between maternal GGT levels and birthweight as well as the pre- and perinatal complications. However, the sensitivity of this test is weak.

[Sudden death in children and adolescents, carriers of an unrecognized cystic medionecrosis of the aorta]. / Décès brutal d'enfants et d'adolescents porteurs d'une médionécrose kystique de l'aorte méconnue.

Four instances of sudden death in childhood and adolescence with autopsy findings are presented. In the four cases unsuspected cystic medionecrosis of the aorta was discovered. In three of the four patients it was associated with a cardiovascular malformation, viz (1) double coarctation of the aorta, (2) coarctation of the aorta associated with Ebstein anomaly, and (3) subvalvular aortic stenosis. In three patients ocular abnormalities were demonstrated as an additional autopsy finding. Only one child could be said to have the Marfan habitus. We suggest that until new biological criteria emerge such observations should remain classified under the eponym of Marfan syndrome.

[Marchesani's syndrome (spherophakia-brachymorphism)]. / Le syndrome de Marchesani (sphérophakie-brachymorphie).

The authors report the case of a patient with spherophakia and brachymorphism (Marchesani syndrome). This congenital and familial disorder is characterized by short stature, short limbs and thick extremities, limitation of joint mobility, a peculiar facies and spherophakia (rounded lens). Mentality is normal. The patient presented here, an eleven-year-old girl, had in addition a subvalvular fibromuscular aortic stenosis. A detailed radiological survey of the skeleton demonstrated a disorder of enchondral growth, particularly evident in the extremities, with short and wide diaphyses, thin cortical bone, and relatively discrete epiphyseal deformities. The vertebral bodies were slightly rounded anteriorly, th discs were thinned, and the ribs widened. The spinal canal and the foramen magnum were narrowed, and the lateral processes short and wide. There was thickening of the skull vault. A mucopolysaccharidosis and a mucolipidosis were excluded by biochemical study of skin fibroblasts in culture.

Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.

A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.

[Clinical and biological evolution of myasthenia gravis after thymectomy in a 13-year-old girl]. / Evolution clinique et biologique d'une myasthénie grave après thymectomie chez une jeune fille de 13 ans.

A 13-year-old girl suffering from rhumatoid arthritis developed a myasthenia gravis. Her circulating anti-acetylcholine receptor antibodies were observed before and after thymectomy. Surgical removal of the thymus was followed by complete clinical remission associated with a progressive decrease of the antibody level; these antibodies did not disappear completely even as late as 2 years after the operation.

[Fetal alcohol syndrome]. / Le syndrome de l'alcoolisme foetal ("fetal alcohol syndrome").

The author presents cases of dysmorphic children born to alcoholic mothers to illustrate his discussion of the "fetal alcohol syndrome". The fact that this malformative syndrome has not been recognized before 1968 is amazing, particularly if one considers the high frequency of alcohol addiction and the relative specificity of the birth defects making up the syndrome. Newborns from severely alcoholic mothers are small for date, microcephalic, and they have abnormal facial features, as well as an increased frequency of other malformations (heart, genitalia, extremities). Neurological and mental deficiencies are recognized early in most of these children. Central nervous system anomalies are beginning to be described by the neuropathologists, which correspond to these clinical findings.