Biomedical subjects
H Bruel
Publications and source records attributed to H Bruel.
[Fetal alcohol syndrome and trisomy 21].
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[The fetal alcohol syndrome and congenital absence of one kidney].
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[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.
[Hospitalized sick or premature neonates are not exclusively breast-fed because of a too restricting circular].
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[Methimazole and choanal atresia].
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[Hyperammonia, hypoglycemia and thrombocytopenia in a newborn after materanl treatment with valproate].
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[Thrombocytosis and cholestasis in a newborn treated with zidovudine].
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[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. 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.
[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.
[Filiform ankyloblepharon adnatum].
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Facial anomalies in D-2-hydroxyglutaric aciduria.
D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin.
[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. Spontaneously, the scalp gradually cicatrized. CONCLUSION: A search for a candidate gene in this second reported case is mandated.
[Radiologic case of the month. Neonatal nasal obstruction associated with dacryocystocele].
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[Neutropenia in a newborn secondary to sulfamethoxazole-trimethoprim administered to the mother].
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[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. CONCLUSION: This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.
[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. 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.
[Allergy to hydrolysed cow milk proteins in premature twins].
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