[Two cases of congenital varicella syndrome: plea for the varicella vaccine].

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.

We have analyzed the human mineralocorticoid receptor (hMR) gene in 14 families with autosomal dominant or sporadic pseudohypoaldosteronism (PHA1), a rare form of mineralocorticoid resistance characterized by neonatal renal salt wasting and failure to thrive. Six heterozygous mutations were detected. Two frameshift mutations in exon 2 (insT1354, del8bp537) and one nonsense mutation in exon 4 (C2157A, Cys645stop) generate truncated proteins due to premature stop codons.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment].

Unlabelled: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus.

Cases: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made.

[Hemolytic anemia in a newborn after maternal treatment with nitrofurantoin at the end of pregnancy].

Unlabelled: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn.

Case Report: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy.

Conclusion: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

[Association of aplasia cutis congenita with coarctation of the aorta: a coincidence?].

Unlabelled: The association of aplasia cutis congenita and aortic coarctation could be a coincidence.

Case Report: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected.

[Hypoglossia, situs inversus and absence of the pituitary in a neonate: teratogenic effect of maternal hyperthermia?].

Unlabelled: Hypoglossia is a rare malformation that is not fatal, unlike otocephaly.

Case Report: A neonate, born at 39 weeks of GA and dead at 5th day showed hypoglossia, dextrocardia, situs inversus and pituitary aplasia. Maternal hyperthermia was observed at 4 weeks gestation.

[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family].

Background: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.

Case Report: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine.

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12.

[Neonatal meningitis caused by Alcaligenes xylosoxydans].

Background: Neonatal meningitis due to Alcaligenes xylosoxydans is exceptional; its diagnosis and treatment may be difficult.

Case Report: A neonate born at 42 weeks of GA to a mother who worked as a nurse in an intensive care unit was admitted on day 2 for a severe infection. Her cerebrospinal (CSF) contained 1,970 white cell/mm3, polymorphonuclear in majority: direct examination failed to show any germ but the CSF and blood cultures were positive for Alcaligenes xylosoxydans, a strain that was resistant to the initially given antibiotics.

[Fibromatosis found during prenatal ultrasonography].

During an antenatal echography, we observed a here to unreported fetal tumour which was diagnosed after birth as aggressive fibromatosis. The infant was treated with chemotherapy and, at the age of 27 months, still had a sclerous mass on the trunk which cause major scoliosis. Fibromatosis is a locally malignant fibrous tumour.