[Cerebral agyria-pachygyria in a child with Werdnig-Hoffmann disease]. / Agyrie-pachygyrie cérébrale chez un enfant atteint d'une maladie de Werdnig-Hoffmann.

Werdnig-Hoffmann disease refers to the severe infantile form of anterior horn cell degeneration. We report an association between Werdnig-Hoffmann disease and agyria-pachygyria. Examples of anterior horn cell disease with lesions in the central nervous system (notably thalamus and cerebellum) have been considered unusual "variants" of Werdnig-Hoffmann disease. This association between Werdnig-Hoffmann disease and agyria-pachygyria has, to our knowledge, never been described.

[Fetal cerebral ventriculomegaly. Etiology and outcome, report of 141 cases]. / Ventriculomégalie cérébrale foetale. Etiologie et devenir, à propos de 141 observations.

OBJECTIVE: To present the different etiologies of fetal cerebral ventriculomegaly (VA) and try to evaluate prognosis. MATERIALS AND METHODS: A retrospective analysis was made in 141 cases of fetal cerebral ventriculomegaly diagnosed in our obstetrics department between January 1988 and December 1996. RESULTS: Mean gestational age at diagnosis was 24.8 weeks. Myelomeningoceles were the most frequent etiology (50 cases, 36%), usually diagnosed late in pregnancy (25 weeks gestation). Termination of pregnancy was the most frequent outcome. Agenesis of the corpus callosum (ACC) was observed in 16 cases (11%), 8 of them being diagnosed before birth. This etiology has been an important diagnostic problem until recent years. The advent of improved imaging techniques has facilitated diagnostic procedures. Thus in 1996, the 4 ACC were all diagnosed by prenatal ultrasound. The 8 live infants presented developmental retardation. Termination of pregnancy has been performed more and more frequently in accordance with parent wishes. In 6 cases (4%), the etiology was congenital infection. When a chromosome anomaly was found (7%), ventriculomegaly was always associated with other ultrasonographic anomalies. Ventriculomegaly was associated with other malformations in 23% of the cases but only 17% were discovered prenatally; all the live infants but one had severe neurological impairment. Ventriculomegaly was considered to be the unique anomaly in 37% of the prenatal cases and was truly unique in 24%, an etiology being found in 6%. No explanation was found in 18%. The outcome of live infants is known in 139 cases (2 children lost to follow-up) after a 6 month to 6 year follow-up. Overall prognosis was severe as among the 42 infants (30%), 14 (10%) are well including 12 who had ventriculomegaly alone. CONCLUSION: Prenatal diagnosis of ventriculomegaly implies a severe prognosis. Only children presenting limited ventriculomegaly alone have normal neurological development. In case of ventriculomegaly, clinicians must search carefully for other anomalies, always associated with poor prognosis.

[Management of newborn life-threatening distress at birth. Study of the experience at a university maternity ward]. / Prise en charge des détresses vitales du nouveau-né à la naissance. Etude de l'expérience d'une maternité universitaire.

Care given to 1,425 consecutive new-born infants in a University Maternity Ward was screened for high-risk pregnancies. The characteristics of the new-borns retained for study resulted from this choice. Life-threatening distress, defined as the need for respiratory assistance beyond the third minute of life, was observed in 6% of cases. Distress had been predicted 30 minutes before birth in only 42% of cases. In 56.5%, the signs of distress occurred outside "normal" working hours and immediate care was given by the mid-wife in 36% of cases. Despite progress in fetal medicine, these findings would suggest that life-threatening distress at birth is often unpredicted and occurs at a non-negligible rate. This would emphasize the need of training the entire obstetrical team, especially the mid-wives in care the for new-borns.