[Macrocephaly-capillary malformation. A neonatal case]. / Le syndrome macrocéphalie - malformation capillaire. Intérêt du diagnostic en période néonatale.

UNLABELLED: Macrocephaly-cutis marmorata telangiectatica congenita is a multiple congenital anomaly syndrome first described in 1997 in children with macrocephaly, cutis marmorata telangiectatica congenita, and several other abnormalities. Since 2007, this syndrome has been renamed macrocephaly-capillary malformation. CASE REPORT: The pregnancy was marked by polyhydramnios associated with fetal macrosomia and macrocephaly. Clinical examination of the newborn confirmed overgrowth, macrocephaly, and found skin abnormalities with diffuse marbled skin, filtrum and upper lip vascular anomaly, and several superficial capillary malformations on the chest and abdomen, partial bilateral syndactyly between the 2nd and 3rd toes, and right hemi-hypertrophy of the body. Brain magnetic resonance imaging showed moderate right hemimegalencephaly. Radiological examination of the skeleton showed asymmetry of the limbs. At 8 months, the medical follow-up confirmed the diagnosis and its neurosurgical treatment of hydrocephalus secondary to an Arnold Chiari malformation. DISCUSSION: The patient reported herein presented macrocephaly-capillary malformation syndrome characterized by macrocephaly and more than two of the main reported findings comprising cutis marmorata, superficial vascular anomaly, syndactyly, and body asymmetry. We describe the major components of this multiple malformative syndrome that is rarely reported in the pediatric literature, especially in newborns. This syndrome should be detected early because medical multidisciplinary follow-up is necessary to prevent different complications (neurological, orthopedic, or oncologic).

[A lethal variant of Netherton syndrome in a large inbred family]. / Forme létale de syndrome de Netherton au sein d'une famille multiplex consanguine.

Netherton syndrome is a rare autosomal recessive disorder characterized by the triad of ichthyosiform erythrodermia, typical hair dysplasia, and severe atopic features. The broad range of variable expression of this disease is well described and 20% of complications occur during the neonatal period such as hypernatremic dehydration, electrolyte imbalances, recurrent or severe infections, and failure to thrive. Mutation of the SPINK5 gene has been identified as disease-causing in Netherton syndrome, but the pathophysiology still remains unclear. Almost all SPINK5 mutations result in the absence of the serine-protease inhibitor LEKTI protein in both keratinocytes and lymphocytes. In this study, we report on a severe form of Netherton syndrome observed in three patients within a large inbred Rom family. All of them died in the first months of life despite early treatment. They were found to be homozygous for the c.1431-12G>A SPINK5 gene mutation, which has not been associated with a lethal form of the disease thus far. This family illustrates the extreme phenotype of Netherton disease of neonatal onset. Molecular diagnosis allowed further genetic counseling and prenatal testing during other pregnancies.

[Idiopathic intrahepatic portosytemic shunts in 4 children]. / Anastomoses portosystémiques intrahépatiques idiopathiques: à propos de 4 observations.

Intrahepatic portosystemic anastomoses are macroscopic communications between the venous portal system and the systemic circulation and located partly in the liver. We report 4 new cases of type II shunts, which illustrate the circumstances of the diagnosis of these exceptional anomalies. For 2 children, the diagnosis was done antenataly by US and spontaneous involution in a few months was observed. In the third case the malformation was evidenced fortuitously at 3 weeks of life, and this 6-year-old child remains completely asymptomatic so far. Then, in the fourth case, a cerebral venous thrombosis was fortuitously and antenatally evidenced in an otherwise uneventful pregnancy and portosystemic shunt was demonstrated postnataly in the extensive work up of the neonate.

[Obstetrical prognosis of labour induction with mifepristone after 41 weeks of gestation]. / Pronostic obstétrical du déclenchement artificiel du travail au-delà de 41 semaines d'aménorrhée en fonction de la réponse à la mifépristone.

OBJECTIVE: To compare the mode of delivery in two groups of patients selected by their response after induction of labour with mifepristone. PATIENTS AND METHODS: We studied retrospectively 89 cases of labour induction with viable children after 41 weeks of gestation. Bishop scores were less than 6. Patients were given 200 mg of mifepristone per day for 48 h. They were retrospectively divided into group 1 (spontaneous onset of labour or premature rupture of membranes before the third day) and group 2 (not in labour by that date). RESULTS: The mean Bishop score at inclusion was 3.1 +/- 1.3. Among the 51 patients (53.9%) in group 1, one required prostaglandins and we performed 10 cesarean sections. In group 2, the mean Bishop score at the 3rd day was 4.4 +/- 1.3 (P < 0.0001). Twenty-four patients required prostaglandins (P < 0.0001) and we performed 17 cesarean sections (P = 0.01). The number of cesarean sections increased with the dose of prostaglandins (P = 0.025). We observed no maternal or fetal complications. DISCUSSION AND CONCLUSIONS: Mifepristone was successful in inducing labour spontaneously in over 50% of pregnancies after 41 weeks of gestation. In the other group, the probability of vaginal delivery was reduced especially when high doses of prostaglandins were required. After the use of mifepristone, we suggest to shorten the duration of prostaglandin administration (two applications of 2 mg dinoprostone) before performing cesarean section.

The peritoneal route as a safe pathway for early in utero therapies: illustration by a 12-year follow-up after conservative management of severe Rhesus allo-immunization.

OBJECTIVE: We report a case of an extremely severe Rhesus allo-immunization treated very early in pregnancy 12 years ago. METHODS AND RESULTS: After chorionic villus sampling at 12 weeks for fetal blood phenotyping, two intraperitoneal transfusions at 14 and 15 weeks were given followed by two intravascular and seven exchange transfusions. A girl weighing 2,940 g was delivered vaginally at term after external cephalic version for breech presentation. To date her neurological and social development is normal. CONCLUSIONS: Since the success of haematopoietic stem cell transplantations for the treatment of congenital haematologic diseases could imply early and repetitive procedures, this observation enlightens the technical feasibility of such an invasive approach and its relative safety for subsequent development.

[Sudden unexpected death in an infant due to a ruptured coronary aneurysm revealing Kawasaki disease]. / Mort subite chez un nourrisson par rupture d'anévrisme coronarien révélatrice d'une maladie de Kawasaki.

UNLABELLED: The early mortality of Kawasaki disease is low, resulting from coronary complications, mainly aneurismal thrombosis with myocardial infarction. The aneurysmal rupture is an exceptional cause of death. CASE REPORT: We report on a six-month-old girl who died suddenly and unexpectedly. The autopsy showed a cardiac tamponade caused by an important ruptured aneurysm of the left coronary artery. Multiple aneurysms, with or without thrombosis, on the right coronary were also present. There was no ischaemic lesion. Three weeks before death, this infant demonstrated several clinical signs of Kawasaki disease whose diagnosis had not been done. CONCLUSION: Even if the rupture of coronary aneurysm is an exceptional initial complication of Kawasaki disease, a better knowledge of the atypical or incomplete forms, particularly below the age of one year, should allow an early diagnosis and treatment, decreasing the risks of coronary complications. This observation furthermore illustrates the interest of post-mortem examination in all sudden or unexpected infant deaths.

Johanson-Blizzard syndrome. a new case with autopsy findings.

Here we present a new case of Johanson-Blizzard Syndrome. Clinical features consistent with the diagnosis of Johanson-Blizzard Syndrome in a term neonate are described: intra-uterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with dextrocardia. These features were confirmed by findings at autopsy. Parents were consanguineous. We compare these clinical features and findings at autopsy with previous cases reported in the literature.

[The re-emergence in 1997 of rubella infections during pregnancy. 11 cases in Clermont-Ferrand]. / Recrudescence en 1997 des infections rubéoliques pendant la grossesse. 11 cas à Clermont-Ferrand.

OBJECTIVE: Describe the clinical and laboratory features of rubella observed during the first semester of pregnancy in 11 patients in 1997. PATIENTS AND METHODS: Eleven pregnant women, aged 15-30 years, were referred to the Clermont-Ferrand University Hospital for suspected rubella. Four had had at least 1 prior pregnancy, none had been vaccinated. Rubella serology was obtained for all 11 patients and polymerase chain reaction viral amplification was performed on amniotic fluid in 9 cases. RESULTS: The virology laboratory identified 8 cases of primary rubella (2 prior to 12 weeks gestation) and 3 reinfections (1 prior to 12 weeks gestation). Fetal infection was evidenced in I gravida II patient at 17-18 weeks gestation. All pregnancies were continued to term and no case of congenital rubella malformation was observed. However specific IgM assays were performed at birth in 6 of the 11 infants and revealed infection in 3. CONCLUSION: These observations indicate that a local epidemic of rubella occurred in the general population. They illustrate the risk of a rubella epidemic in France and the lack of sufficient vaccination of the young adult population, finally they emphasize that current anti-rubella vaccination programs should be promoted.

[Transient bullous epidermolysis of the newborn infant. A benign clinical form of dystrophic bullous epidermolysis or an autonomous entity?]. / La dermolyse bulleuse transitoire du nouveau-né. Forme clinique bénigne d'épidermolyse bulleuse dystrophique ou entité autonome?

INTRODUCTION: Transient bullous dermolysis of the newborn is a bullous eruption limited to friction zones. It appears at birth and disappears during the first months of life. CASE REPORT: Immediately after delivery, an infant girl presented cutaneous bullae on areas of trauma which spontaneously regressed after a few weeks. The histology examination confirmed subepidermal involvement (the roof of the bullae took up the anticollagen IV antibody) and ultrastructure anomalies in the baseline membrane: intracellular vacuoles in the keratinocytes containing fibrillary material, disorganization of the anchoring fibers. DISCUSSION: Transient bullous dermolysis of the newborn is a rare (less than 15 cases reported in the literature) benign disease which regresses spontaneously, possibly an explanation of the small number of cases reported. The anomalies in the ultrastructure observed in the baseline membrane strongly suggest transient impairment in collagen VII maturation and excretion. These anomalies are not pathognomonic and can be observed in dystrophic bullous epidermolysis. Currently there is no specific genetic marker to established transient bullous dermolysis as unique entity.

Fetal umbilical cord ligation under ultrasound guidance.

In a patient with severe twin-to-twin transfusion syndrome, ultrasound-guided umbilical cord ligation of the hydropic recipient twin was performed at 27 weeks' gestation. The procedure was successful in arresting the blood flow and was associated with improvement in the condition of the severely compromised donor fetus. At 29 weeks' gestation, premature onset of labor occurred and a healthy baby was delivered by emergency Cesarean section. This report demonstrates the feasibility of ultrasound-guided cord ligation for selective feticide in a case of severe twin-to-twin transfusion syndrome.

LADD syndrome in five members of a three-generation family and prenatal diagnosis.

We describe five members of a three generation family with lacrimo-auriculo-dento-digital (LADD) syndrome. The circumstances in which the diagnosis was reached and the details of the case reports underline the great variability of expression of this syndrome and show that caution should be taken in genetic counselling. Prenatal ultrasound should be offered to families at risk so that severe forms of the syndrome, in which termination of pregnancy can be considered, are early detected.

Serum erythropoietin in small for gestational age fetuses.

Serum erythropoietin (Epo) concentration was compared prenatally in adequate (AGA) and small for gestational age (SGA) fetuses. Fifty-four percutaneous umbilical blood samplings were paired with maternal blood and assessed for Epo, hematocrit and reticulocyte count. Seventeen fetuses were growth-retarded (SGA) on the basis of ultrasonic biometry and birth weight. Controls (AGA; n = 37) underwent cordocentesis for risk of toxoplasmosis, maternal age or malformations (CNS, GI, heart). No cytogenetic abnormality or infections was found in the 54 fetuses. Linear and polynomial regressions were fitted to determine correlations between parameters. Nonparametric Mann-Whitney test was used for comparison between groups. Gestational age at sampling was similar in AGA and SGA. The SGA fetuses had a higher Epo concentration than controls (p < 0.001). Fetal AGA Epo increased significantly throughout pregnancy (p < 0.01) but did not correlate with maternal Epo (p > 0.05). An inverse correlation was found between fetal reticulocyte count and Epo concentration (p < 0.02). The mechanism of high Epo level in SGA fetuses may involve low pO2 and hemoconcentration.

Treatment of homozygous familial hypercholesterolemia by plasma exchange and LDL-apheresis.

Two girls with familial hypercholesterolemia were treated for 7 years by plasma exchanges (PE) or LDL-apheresis (LA). We compared different methods of treatment; PE with or without reuse of the plasma separator, LA of varying frequency, and LA with or without oral administration of simvastatin. We assessed the long-term results by measuring the blood levels of the biochemical parameters before sessions, and determined the effectiveness of each session by the percentage of decrease in the blood levels between the beginning and the end of the sessions. LA led to a more selective treatment (lowering of LDL cholesterol and maintenance of HDL cholesterol), but the blood levels of total cholesterol before sessions were the same as those obtained by PE. IgG and haemoglobin levels decreased little with LA. The rhythm of one session a week gave better results in LA. Although reuse of the plasma separator represents a financial saving it produced poorer results. The oral administration of simvastatin improved the results of LA.