[Clostridium perfringens meningitis with fatal outcome in a 3-week old infant]. / Méningite à Clostridium perfringens d'évolution fatale chez un nourrisson de 3 semaines.

BACKGROUND: Clostridium perfringens meningitis is a rare condition usually associated to skull injuries, surgery or gastro-intestinal disorders. CASE REPORT: A 21 day-old infant was admitted for the sudden worsening of a neonatal post-hemorrhagic hydrocephalus. Eighteen hours after admission, she developed a septic status with acute meningitis. A CT scan revealed the presence of intracerebral gas suggesting the responsibility of an anaerobic bacterium. The infant died within 24 hours from multiorgan failure, hemodynamic disorders, acute anemia with red urines. Clostridium perfringens was isolated both from the blood and CSF. CONCLUSIONS: The tissue alterations following meningeal hemorrhage may favor anaerobic growth. The presence of intracerebral gas is highly suggestive of the diagnosis. The prognosis is very poor.

[N-acetylaspartic aciduria. Clinical, biological and physiopathological study]. / Acidurie N-acétylaspartique. Etude clinique, biologique et physiopathologique.

Two cases of N-acetylaspartic aciduria in siblings are described and compared to the 18 cases already reported. The disease should be considered in childhood when a syndrome of severe encephalopathy with macrocephaly, blindness caused by optic atrophy and diffuse leucodystrophy on CT scan occurs. Urinary organic acids gas chromatography confirms the diagnosis. It is probably inherited as an autosomal recessive trait. Aspartoacylase activity deficiency has been reported and this assay could possibly be used for prenatal diagnosis. Pathogenesis is not clearly understood but N-acetylaspartic acid (NAA) seems to be essential for central nervous system myelination. Clinical and anatomic features of N-acetylaspartic aciduria are very similar to Van Bogaert-Bertrand disease (cerebral spongy degeneration or Canavan disease) but heterogeneity of this disease cannot excluded.

[Post-traumatic pancreatic pseudocyst with spontaneous regression]. / Pseudokyste pancréatique post-traumatique de régression spontanée.

A 9 year old boy presented a pancreatic pseudocyst in the early course of a traumatic pancreatitis (10th day after an abdominal trauma). The child remaining asymptomatic, a simple echographic and biological supervision (amylasemia and amylasuria) was adopted. Amylasemia and amylasuria were normalized within one month. Repeated echographies showed an increase of the size of the cyst at first, followed by its regression and disappearance within 2 months.

[Benign tumors of the posterior urethra in children. Apropos of an unusual case of rhabdomyoma of fetal type]. / Tumeurs bénignes de l'urètre postérieur chez l'enfant. A propos d'un cas exceptionnel de rhabdomyome de type foetal.

The authors report a very unusual case of urethral tumor in a child: fetal rhabdomyoma, after nephroblastoma treated by enlarged nephrectomy. Excellent result is observed four years after endoscopic treatment of this prostatic urethral tumor. Clinical and histological features of posterior urethral tumors and rhabdomyoma are recalled; the association nephroblastoma-tumor of urethra is discussed.

[The deficiency of 17-hydroxylase: a cause of growth and puberty retardation in the girl. One case]. / Le déficit en 17-hydroxylase: une cause de croissance et puberté retardées chez la fille. A propos d'une observation.

A case of 17-hydroxylase deficiency in a 14 years old girl is reported. She presented with the unique association of hypertension, hypokaliemia, delayed puberty and growth failure. It is suggested that the reduced statural growth starting between 7 and 10 years of age and accompanied by a markedly reduced bone maturation was, at least in part, the consequence of the absence of adrenarche. The secretion rate of cortisol was very low while an increased production of D.O.C. and corticosterone was demonstrated by the elevated levels of their urinary tetrahydroderivatives. A good feminisation and a growth spurt were observed under ethinyl oestradiol substitutive therapy. A progressive normalization of the kaliemia and the blood pressure was obtained with hydrocortisone treatment but long term hydrocortisone therapy appears less satisfactory with easy clinical manifestations of overdosage on the one hand and incomplete maintenance of normal blood pressure of the other hand.

[Oculocraniosomatic neuromuscular disease]. / Maladie neuromusculaire oculo-cranio-somatique.

A child with a myopathy that started in the pelvic girdle, non-obstructive cardiomyopathy and retinitis pigmentosa is described. There was a progressive neurological deterioration with external ophthalmoplegia and ptosis. The clinical course could be predicted from the appearance of the muscle biopsy.

[A cry of alarm from non-university hospital pediatric departments. What future?]. / Cri d'alarme des services de pédiatrie des hôpitaux non universitaires. Quel avenir?

A survey by questionnaire was carried out among pediatricians of the departments of pediatrics of the non university hospitals in France in order to know the activity and the conditions of work of these departments. Responses were obtained from 84 of the 140 departments of pediatrics. The results emphasized the important activity of these departments contrasting with frequent insufficiencies of the medical staff and equipment. Solutions are proposed in order to avoid an aggravation of the actual situation.

[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency]. / Le déficit en medium chain acyl CoA deshydrogénase. A propos d'un cas avec mise en évidence du déficit enzymatique.

The medium chain acyl-CoA deshydrogenase defect: a new inherited metabolic disorder. This enzymatic defect blocks the catabolism of non esterified fatty acids during fasting. Thus, this disease is revealed by a coma due to hypoglycemia in a young child; the presence of dicarboxylic aciduria in such a situation is the main evidence for this diagnosis. Finally, the enzymatic studies performed on skin fibroblasts show a defect in medium chain acyl-CoA deshydrogenase. When a child is investigated away from a coma episode, the ketotic diet induces dicarboxylic aciduria but must be performed in an intensive care unit for its dangers.