[Early cerebral MRI in preterm infants: correlations with EEG and outcome]. / Intérêt de la réalisation d'une IRM cérébrale précoce chez le prématuré: corrélation avec l'EEG et le devenir.

AIM OF THE STUDY: Assess the potential benefits of performing an early cerebral MRI to evaluate the gravity of cerebral lesions among premature neonates at risk of neurologic sequels and establish correlations between EEG findings, abnormal neuroimaging findings and neurodevelopment. METHODS: A MRI was performed in 34 premature newborn babies with abnormal neurological clinical signs, and/or with two abnormal EEG and/or with two abnormal cerebral ultrasound scans. The mean age and the adjusted age of our population were 5 weeks (range 1-11 weeks) and 35 weeks of adjusted age (range 29-40 weeks) respectively. The neuroimaging findings were correlated to the results of three EEGs (recorded before 15 days old, between 15 days and one month old, and after the first month of life) and to neurodevelopment. RESULTS: Two statically significant correlations were found between: 1) the severity of brain injuries observed in MRI and the results of the latest EEG (sensitivity 100%, specificity 60%), 2) the severity of brain injuries observed in MRI and abnormal neurodevelopment (sensitivity 75%, specificity 80%). There was no correlation between the abnormal development and the results of EEG recordings. CONCLUSION: Early cerebral MRI is justified in a selected premature population. It is useful for the diagnosis, the evaluation of the severity of brain injury and for the management of these children. The correlation with EEGs traces allows the detection of the majority of prematures babies that will develop sequels.

Tryptophan missense mutation in the ligand-binding domain of the vitamin D receptor causes severe resistance to 1,25-dihydroxyvitamin D.

In this study, two related young children, brother and sister, exhibited severe vitamin D-resistant rickets without alopecia. Sequence analysis of the total vitamin D receptor (VDR) cDNA from skin fibroblasts revealed a substitution of the unique tryptophan of the VDR by arginine at amino acid 286 (W286R). Cultured skin fibroblasts of the two patients expressed normal-size VDR protein (immunocytochemistry and Western blotting) and normal length VDR mRNA (Northern blotting). But, these fibroblasts, as well as COS-7 cells transfected with the W286R mutant, failed to bind 3H 1,25-dihydroxyvitamin D3 [1,25(OH)2D3]. The tryptophan substitution did not affect VDR trafficking toward the nucleus but abolished the 24-hydroxylase gene response to 1,25(OH)2D3, even at 10(-6) M concentrations. In conclusion, this case report of a new family with hereditary vitamin D-resistant rickets (HVDRR) emphasizes the crucial role of the VDR tryptophan for ligand binding and for transactivation of 1,25(OH)2D3 target genes. It clearly shows the clinical significance of this VDR amino acid for calcium homeostasis and bone mineralization. This observation suggests further that the presence of a stable VDR-bound ligand may not be obligatory for normal hair follicle development.

[Neonatal hyperthyroidism in a premature infant born to a mother with Grave's disease]. / Hyperthyroïdie néonatale chez un prématuré né de mère atteinte d'une maladie de Basedow.

BACKGROUND: Neonatal thyrotoxicosis is most commonly due to transplacental transfer of maternal thyroid-stimulating hormone receptor antibodies (TRAb). Bioassay of thyrotropin receptor antibodies may help to determine the risk for neonatal hyperthyroidism. CASE REPORT: Thyrotoxicosis developed in a premature infant born to a mother with Graves' disease, with a low level of TRAb by bioassay. The infant was treated with carbimazole for two months, until TRAb had disappeared. CONCLUSION: Bioassay TRAb is not always reliable for predicting the development of neonatal hyperthyroidism in infants born to mothers with Graves' disease. Thyroid function should be measured in all these neonates.

[Congenital toxoplasmosis and cerebral involvement inspite of prenatal treatment]. / Toxoplasmose congénitale et atteinte cérébrale malgré un traitement anténatal.

BACKGROUND: Maternal toxoplasmosis seroconversion during the first trimester of pregnancy raises an important risk of toxoplasmic fetopathy. CASE REPORT: Primary toxoplasmosis was identified between 9 and 17 weeks of gestation. PCR analysis of the amniotic fluid confirmed fetal infection. The mother was given a sulfadoxine-piremythamine combination and monthly ultrasonographic surveillance was initiated. At birth, the female infant was found to have diffuse cortical lesions and a chorioretinitis compatible with toxoplasmic fetopathy. She was given sulfadoxine-piremythamine. At 2 years, the clinical and neuroradiological course has been favorable. CONCLUSION: Despite antenatal and postnatal treatment and despite ultrasonographic surveillance, it is difficult to predict the course of congenital toxoplasmosis. This case illustrates the importance of informing parents of the risk and the requirement for careful follow-up after antenatal diagnosis of first-trimester toxoplasmosis.

Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.

[Prenatal diagnosis of fetal goiter revealing iodine utilization defect]. / Goitre néonatal découvert in utero, révélateur d'un trouble de l'organification de l'iode.

We report on a case of fetal goitrous diagnosed on ultrasonogram done at 31 weeks of gestation. Thyroid maternal function was normal and no therapeutic was responsible. Hormonal test done on cord blood supported diagnosis of prenatal hypothyroidism. The infant was born prematurely at gestation age of 34 without antenatal treatment. He was eutrophic with clinical and biological signs of hypothyroidism and a large goiter. Therapy with thyroxine was instituted on the third day of life. At 9 months, growth and development are normal. Congenital hypothyroidism has an incidence of approximately 1 in every 4000-5000 live births. Rarely fetal goitrous hypothyroidism have been attributed to thyroid hormone dyshormonogenesis. When fetal goiter is diagnosed on ultrasonography, without maternal hypothyroidism or therapeutic and when hypothyroidism is confirmed on fetal blood, this diagnosis must be suspected.

[Hypoglossia-hypodactylia syndrome: apropos of a case with maxillo-mandibular synostosis, glossopalatine ankylosis and cleft palate]. / Syndrome hypoglossie-hypodactylie: à propos d'un cas avec synostose maxillomandibulaire, ankylose glossopalatine et fente palatine.

BACKGROUND: The hypoglossia-hypodactylia syndrome, a combination of limb hypogenesis and micrognathia is exceptionally associated with glossopalatine ankylosis and cleft palate. CASE REPORT: A twin girl from monochorionic pregnancy had hypoglossia and micrognathia with anterior maxillo-mandibular fusion, glossopalatine ankylosis and cleft palate. Her left foot was amputated distal to the talus and calcaneous; her right foot had only one phallange. The second phallange of the second finger was hypoplastic on her right hand. There was no abnormality on left hand. Her sister was unaffected. The maxillo-mandibular fusion was divided on second day. The infant was able to suckle on the tenth day. Episodes of airway obstruction occurred on cardiorespiratory recording and the patient was further monitored at home. CONCLUSION: This case suggests that the hemodynamic disorders due to multiple vascular connections from monochorionic pregnancies may have induced ischemic lesions of hypoglossia-hypodactylia. Other malformations and signs of brain stem dysfunction should be detected.

[Parathyroid adenoma in a child]. / Adénome parathyroïdien chez un enfant.

We report the case of a 13 year-old white teenager who was referred for chronic bone pain. Physical examination showed a swelling of the anterior part of the neck and biological findings clearly evoked a primary hyperparathyroidism. The surgical treatment was successful and confirmed the diagnosis of parathyroid adenoma. Primary hyperparathyroidism being unusual in childhood, the eventuality of a multiple endocrine neoplasia is discussed.

Bilirubin displacement by ceftriaxone in neonates: evaluation by determination of 'free' bilirubin and erythrocyte-bound bilirubin.

Determination of 'free' bilirubin, erythrocyte-bound bilirubin and unconjugated bilirubin was used to test the effects of ceftriaxone on the binding of bilirubin to albumin. This study, performed on blood samples from icteric neonates, showed that the addition of ceftriaxone produced an increase of free bilirubin and erythrocyte-bound bilirubin and a decrease of unconjugated bilirubin. Ceftriaxone displays a significant displacing effect at concentrations obtained during therapeutic use and should be used with caution in high-risk jaundiced infants.

[Adaptation of amikacin dosages for the premature infant]. / Adaptation des posologies de l'amikacine chez le prématuré.

Pharmacokinetic studies of amikacin were investigated concomitant with the kidney and auditory function and with the minimal inhibitory concentrations on the causal bacteria in 23 premature neonates with confirmed or suspected infections. It appears that the usual doses administered to newborns or preterm neonates must be decreased and calculated in function to the gestational ages and life's days. Every preterm neonates received a first infusion of 7.5 mg/kg. When premature have less than 14 days of life, amikacin was given at a dose of 3.75 mg/kg every 12 hr for a gestational age less than 32 weeks, or 5 mg/kg every 12 hr for a gestational age between 32 and 37 weeks. After 14 days of life, considering our results it must be necessary to administer 5 or 7.5 mg/kg every 12 hr.

[Neonatal hemolytic icterus due to congenital glucose-6-phosphate dehydrogenase deficiency. Apropos of 17 cases]. / Ictères hémolytiques néonatals par déficit congénital en glucose-6-phosphate déshydrogénase. A propos de 17 cas.

The authors describe the diagnosis and the clinical course of neonatal haemolytic jaundice due to congenital deficiency of glucose 6 phosphate dehydrogenase on the basis of a series of 17 cases in children of Mediterranean or Indian ocean origin (zones previously endemic for malaria).