[Fetal alcohol syndrome and trisomy 21].
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Biomedical subjects
Publications and source records attributed to J P Chabrolle.
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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.
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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. In the other case, only the male dizygotic twin was affected. CONCLUSION: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.
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.
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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. Spontaneously, the scalp gradually cicatrized. CONCLUSION: A search for a candidate gene in this second reported case is mandated.
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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. CONCLUSION: This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.
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. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.
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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. The patient was given piperacillin, 300 mg/kg/d for 21 days and completely cured with a follow-up of 6 months. CONCLUSIONS: This case shows that lombar puncture can be necessary in evaluating early neonatal sepsis; it also shows usefulness of piperacillin in some cases.