[Medical treatment of juvenile hemangiomas]. / Traitement médical des hémangiomes immatures.

Infantile hemangioma always involute in 5 to 7 years. However, 10% of proliferating hemangiomas will necessitate a therapeutic approach, often medical, in order to avoid life or organ threatening, fonctional or esthetic sequelae. "Which hemangioma need to be treated, when and how" are important questions for the optimal management of infantile hemangiomas. Corticotherapy is still the treatment of choice for these lesions. Other anti-angiogenic molecules have also been successfully used such as interferon alfa-2a and vincristine. This chapter tries to answer these questions and detail the different medical modalities for the treatment of infantile hemangioma.

Lymphatic malformations of the head and neck: a retrospective review and a support for staging.

BACKGROUND: Lymphatic malformations (LM) are rare benign congenital tumors appearing mainly in the head and neck with a considerably variable outcome. A need exists to validate a staging system, taking into account the prognosis of the malformation, including preoperative and postoperative complications, long-term sequelae, and persistence of the disease to improve parental counseling and evaluate the outcome of a surgical treatment of such tumors. METHODS: Twenty-two patients treated for LM were selected from a series of 129 patients operated on for congenital malformations of the head and neck between 1986 and 1997 at St-Luc University Hospital, Brussels, Belgium. Their charts were reviewed retrospectively, with a special focus on the anatomic location of the lesions and all the complications reported. According to de Serres et al, LM up to now have been divided into six possible categories according to their unilateral or bilateral infrahyoid and/or suprahyoid locations. RESULTS: Stage I (unilateral infrahyoid): nine patients, 11% of complications (without mediastinal extension: 0%, with mediastinal extension: 50%); stage II (unilateral suprahyoid): three patients, 33% of complications; stage III (unilateral suprahyoid and infrahyoid): eight patients, 75% of complications; stage V (bilateral suprahyoid and infrahyoid): two patients, 100% of complications. None of the children was initially seen with stage IV (bilateral suprahyoid) or stage VI (bilateral infrahyoid) LM. Overall complications, preoperative complications, postoperative com- plications, and long-term morbidity showed a significant in- crease from stage I to V (p <.01, p =.002, p =.02, and p =.03, respectively). CONCLUSIONS: A staging system of cervicofacial LM based on the anatomic location can be reliably used for prognostic purposes, allowing a more accurate assessment of the global risk of complications and determination of surgical outcome. Mediastinal extension in stage I patients seems to be associated with a higher rate of complications. Such information can be used to inform parents more appropriately regarding the management and long-term prognosis of their children's malformation.

Inflammatory cytokines in the pathogenesis of periventricular leukomalacia.

BACKGROUND: Periventricular leukomalacia (PVL) affects the developing white matter of neonatal brain. Inflammatory and infectious conditions are implicated in the cause of PVL. METHODS: The authors investigated the in situ expression of proinflammatory cytokines (interleukin-1beta and -6, tumor necrosis factor alpha [TNFalpha]), adhesion molecules (intercellular adhesion molecule-1, vascular cell adhesion molecule-1) and inflammatory cell markers (CD68, leukocyte common antigen, human leukocyte antigen II) in 19 neonatal brains with PVL. The authors compared the findings with matched non-PVL brains. RESULTS: The inflammatory reaction detected at the early stage of PVL extends until the latest phase of cystic cavitation, though at an attenuated level. There is high expression of TNFalpha and to a lesser extent interleukin-1beta; interleukin-6 remains undetectable. Cytokine immunoreactivity is detected in PVL cases both with and without infection. However, cytokine production was higher with infection. A different pattern of cytokine expression was observed in anoxic brains without PVL: TNFalpha immunoreactivity was significantly lower than the PVL group. CONCLUSIONS: An immune-mediated inflammatory process may play a role in PVL. TNFalpha, a myelinotoxic factor, may be the major mediator.

[Choanal atresia: a retrospective study of 39 cases]. / Les atrésies choanales: à propos d'une série rétrospective de 39 cas.

The purpose of this study was to investigate the clinical characteristics and the surgical management in patients with choanal atresia. We performed a retrospective study at the Saint-Luc University hospital, Brussels, between January 1988 and June 2000. Surgical corrections were performed using different approach (transnasal endoscopic, transpalatal) and different instrumentations (urethral sounds, laser nd-YAG, laser CO2, microdebrider). Portex endotracheal tubes were inserted as nasal stents in the vast majority of the patients with bilateral choanal atresia. Thirty-nine children with choanal atresia (22 unilateral and 17 bilateral) (9: M, 30: F) were studied. 38 of them were surgically managed. Based on clinical inspection and On CT-Scan, choanal atresia was defined as membranous for 4 patients, osseous for 6 and mixte for 29. Associated congenital anomalies were found in 22.7% of unilateral and in 70.5% of bilateral choanal atresia (Total: 43.5%). Of those children with bilateral choanal atresia, 75% were asymptomatic after four surgical procedures. In children with unilateral choanal atresia, 45% were asymptomatic after one surgical correction and 100% after three surgical corrections. Four patients were managed using an endoscopic endonasal approach with the microdebrider and showed no evidence of recurrence. Outcome analyses of factors that may influence the results of surgery are difficult to establish since many different surgical options were taken during this period. However, it seems that bilateral choanal atresia is associated with more surgical corrections before achieving a normal nasal breathing than unilateral choanal atresia. After this review, our current strategy regarding the choanal atresia will be to begin with the endoscopic endonasal approach using the microdebrider (stents if bilateral) and to propose the transpalatal approach in case of recurrence.

Anaesthetic management of a child with Marshall-Smith syndrome.

PURPOSE: The Marshall-Smith Syndrome (MSS) is a rare disease characterized by orofacial dysmorphism, failure to thrive, accelerated osseous maturation and mental retardation. It has anaesthetic implications due to upper airway problems and possible atlanto-axial instability. We present the perioperative problems (difficult intubation, airway obstruction) encountered in a child with MSS who underwent several anaesthetics during his first two years of life. CLINICAL FEATURES: At birth, the child presented with asphyxia due to obstructive apnoea. His trachea was, therefore, intubated immediately. The morphological diagnosis of MSS was confirmed by the pathognomonic radiological appearance of the bones (bone age was eight months at the age of four days). Upper airway difficulty was caused by functional problems at the level of the hypopharynx (inspiratory collapse at the level of the velum palatinum), and was solved by the use of a nasopharyngeal airway (NPA) during the induction of anaesthesia and early postoperative period. CONCLUSION: The use of an NPA during both induction and recovery of anaesthesia may be particularly useful to prevent upper airway problems in children with MSS.

High-versus low-dose erythropoietin in extremely low birth weight infants. The European Multicenter rhEPO Study Group.

OBJECTIVE: To investigate whether a weekly 1500 IU/kg dose of recombinant human erythropoietin (rhEPO) is more effective than a dose of 750 IU/kg/week in preventing anemia and reducing the transfusion need in infants with birth weights less than 1000 gm. STUDY DESIGN: In a randomized, double-blind, multicenter trial, 184 infants with birth weights between 500 and 999 gm were treated with either rhEPO 750 (low-dose group) or 1500 IU/kg/week (high-dose group) from day 3 of life until 37 weeks' corrected age. RESULTS: Thirty-two percent of the infants in each group did not receive any transfusion during the treatment period. The total volume of erythrocytes received was similar in each group. The success rate, defined as no transfusion needed and hematocrit value 0.30 L/L or greater, was 27.6% in the low-dose and 29.5% in the high-dose group (p = 0.96). CONCLUSION: Doubling the rhEPO dose of 750 IU/kg/week is not indicated in infants with birth weights less than 1000 gm.

Calcium homeostasis in cardiomyocytes isolated from heat-shocked rats.

The cellular mechanism of heat shock-mediated cardioprotection is still under debate. Because heat pretreatment negatively affects the normoxic left ventricular contractile performance in vitro when the extracellular Ca2+ concentration ([Ca2+]o) is relatively low (0.65-1.25 mM), the intracellular Ca2+ homeostasis was studied in more detail in cardiomyocytes isolated from adult rats 24 h after heat stress (42 degrees C for 15 min) or anesthesia (control). Sensitivity to Ca2+ overload was assessed by exposure to veratridine (quiescent cells) or to [Ca2+]o ranging from 0.125 to 20 mM in quiescent and paced cardiomyocytes. The fraction of irreversibly hypercontracted cells was not different between groups. The fura-2 fluorescence ratio (I340/I380), which was used as a measure for cytoplasmic Ca2+ concentration ([Ca2+]i) in quiescent cells after exposure to [Ca2+]o (0.5-10 mM), was also not different between groups. Myofilament Ca2+ sensitivity was assessed in paced (0.5 Hz) cells by simultaneous measurement of [Ca2+]i transients and cell shortening. At stepwise increases of [Ca2+]o from 1 to 10 mM, these parameters were comparable between groups. The diastolic cell length shortened progressively and equally in both groups after increasing [Ca2+]o. However, within 2 min of return from 10 to 1 mM [Ca2+]o, cells from heat-shocked rats retained the same length, whereas cells from control rats contracted further (P = 0.05). These data suggest that heat stress improves relaxation after challenge with high [Ca2+]o.

Recurrence of neonatal haemochromatosis in half sibs born of unaffected mothers.

We report two families in which neonatal haemochromatosis was observed in half sibs. In the first family, two successive girls were born of different fathers. In the second family, an affected brother and sister were followed by an affected half brother born after donor insemination. These observations, as well as a previous abstract describing two affected half sisters, revive the debate over the inheritance of neonatal haemochromatosis. Incomplete penetrance or gonadal mosaicism for a dominant disorder, a maternal "environmental factor", or mitochondrial defect may be more suitable explanations than autosomal recessive inheritance in this condition. Alternative modes of fertilisation, such as donor insemination or in vitro fertilisation with donor eggs, should be considered with caution.

High CTG repeat number in nodular thyroid tissue from a myotonic dystrophy patient.

CTG triplet expansion was studied in lymphocytes and thyroid tissue in a patient with myotonic dystrophy (DM) and associated thyroid nodular disease. An approximately 7 fold larger amplification was found in abnormal thyroid tissue compared to lymphocytes, suggesting that anomalies in the putative DM kinase gene might contribute to thyroid dysfunction.

Fetal liver hemangioma and chorioangioma: two unusual cases of severe fetal anemia detected by ultrasonography and its perinatal management.

Severe anemia was diagnosed by cordocentesis in two fetuses, one with a large chorioangioma, the other with a liver hemangioma. Despite the presence of a chronic fetotumoral shunt, both cases were partly treated by a fetal intravascular transfusion, followed by an elective Cesarean section. This 'predelivery' management of anemia should improve neonatal morbidity associated with severe hematological and acid-base balance disorders.

Giant congenital melanocytic nevus with placental involvement: long-term follow-up of a case and review of the literature.

We describe a case of giant congenital melanocytic nevus with placental villous involvement in an otherwise uncomplicated pregnancy. Only four similar cases have been reported in the world literature. Nevomelanocytes were found in both villous stoma and fetal capillaries. No neonatal or maternal adverse effects were observed 5 years after diagnosis in the present case.

[Congenital paralysis due to compression. Apropos of 4 cases]. / Paralysies congénitales par compression. A propos de quatre observations.

Four cases of congenital dysfunction of major peripheral nerves are reported and discussed. The first patient was a girl born by spontaneous delivery with an area of skin and muscle necrosis on the dorsal aspect of the forearm and a palsy of the three major nerves of the upper limb. The second patient was a boy born by caesarean section with the same necrotic lesions and a palsy of the ulnar and median nerve. The third patient was a boy born uneventfully with a truncal lesion of the sciatic nerve at the thigh. The fourth who was delivered by caesarean section for alteration of the monitoring presented a severe strangulation of the arm by the umbilical cord with palsy of the radial and ulnar nerve. The palsies recovered spontaneously and the sequelae are mostly due to the muscle necrosis. Congenital dysfunction of major peripheral nerves have been described as a complication of congenital constriction band syndrome, in association with subcutaneous fat necrosis, neonatal gangrene or aplasia cutis congenita. Intrauterine compression of a limb may be favoured by decreased foetal activity, by spontaneous rupture of the amniotic sac, particularly if there is a delay in delivery and by abnormal uterine activity during labour. Our three first cases confirm that the compression may arise before the labour. The fourth demonstrates that umbilical cord strangulation may lead to anoxia of the foetus together with compression of the limb.

Lysophosphatidylcholine-induced Ca(2+)-overload in isolated cardiomyocytes and effect of cytoprotective drugs.

It has been previously demonstrated that lysophosphatides accumulate rapidly in ischaemic tissue, and may play a key role in the genesis of ischaemia-reperfusion injury. The present study investigated the effects of exogenously added lysophosphatidylcholine (1-20 microM) on single isolated cardiomyocytes from adult rabbit hearts. Quiescent cells exposed to > or = 8 microM lysophosphatidylcholine dose-dependently displayed irreversible hypercontraction, whereas after 60 min at 3 microM lysophosphatidylcholine, most cells remained rod-shaped (87.2 +/- 2.0%, mean +/- S.E.M.). However, when combined with electrical field stimulation (1 Hz), exposure to 3 microM lysophosphatidylcholine resulted in irreversible hypercontracture of most cells after 60 min: only 27.5 +/- 7.5% of the cells remained rod-shaped. Contracture depended upon the presence of extracellular Ca2+, and coincided with a significant rise in the median intracellular free Ca2+ level from 72.2 to 352.1 nM (P = 0.0001), suggesting intracellular Ca(2+)-overload. Pretreatment with 10(-6) M flunarizine or R 56865 significantly reduced the fraction of damaged cells when exposed to 3 microM lysophosphatidylcholine and electrical stimulation: 78.3 +/- 12.2% and 56.3 +/- 13.1% respectively of the cells remained rod-shaped. No protection was observed when quiescent cells were exposed to 10 microM lysophosphatidylcholine. Cytochemical localization of Ca2+ showed that lysophosphatidylcholine induced a loss of sarcolemma-bound Ca2+ precipitate and an accumulation of Ca2+ clusters in mitochondria of damaged cells in a dose and time dependent way. These results suggest that lysophosphatidylcholine induces functional and structural damage (Ca(2+)-overload) in isolated cardiomyocytes and that this can be prevented by cytoprotective drugs.

[Obstructive urinary tract diseases and prenatal diagnosis. Timing of surgical correction]. / Uropathies obstructives et diagnostic prénatal. Moment de la correction chirurgicale.

The Authors are reviewing their experience of Obstructive Uropathies diagnosed and treated surgically in neonates, the last 8 years in their Institution. 67 cases were reviewed, in which 37 presented with ureteropelvic junction obstruction (UPJ). 13 with posterior urethral valves, 11 with primary megaureter and 6 with ureterocele. Prenatal ultrasonography allowed the diagnosis to be made in two third of the patients. UPJ is the most common obstructive uropathy observed. Posterior urethral valves the most severe because of high pulmonary and renal (dysplasia) complication rate. Surgery, when indicated, has no more complications to be expected than in general population, if oriented prophylactic measures are taken in the early peri- and postoperative period.

Class IV Ca2+ antagonists do not affect lipid peroxidation in singlet oxygen challenged cardiomyocytes.

The effects of various Ca2+ antagonists on lipid peroxidation in singlet O2-challenged isolated cardiomyocytes from adult rat heart were investigated. Singlet O2-challenged untreated cells all hypercontracted as a consequence of Ca2+ overload and produced 463.6 +/- 143.6 nM malondialdehyde (MDA; mean +/- SD, n = 8). Protective Ca2+ antagonists reduced the amount of damaged cells, but did generally not affect MDA production. On the other hand, free radical scavengers and antioxidants displayed a good correlation between number of protected cells and MDA produced. It is concluded that flunarizine-like Ca2+ antagonists protect cells against Ca2+ overload without, however, interfering with peroxidative processes.

Periventricular leukomalacia: ultrasonic and neuropathological correlations.

Ultrasound scans of a preterm neonate (27 weeks gestation) at seven weeks of age showed periventricular echo-free cavities, but these were no longer visible at 15 weeks, three weeks before the infant died. At autopsy, a linear glial scar, extending from the periventricular white-matter into the white axis of the parasagittal gyrus, was found in the area occupied by the periventricular cysts. The larger cavity was reduced to a slit-like excavation in the midst of glial tissue. Unsuspected focal infarcts in the cerebral cortex were also found. This observation demonstrates that transient echo-free cavities represent foci of cystic necrosis, which are subject to secondary collapse. In the authors' experience, the linear extension of periventricular leukomalacia (PVL) into the core of parasagittal gyri is a frequent feature of PVL, and one which cannot easily be accounted for by the usual explanations of border-zone ischaemic softening.

Progressive tubulointerstitial nephropathy with hepatic involvement in an infant.

We describe an infant with renal and liver disease who died at the age of 10 months from chronic renal failure. Hepatosplenomegaly was present along with biochemical findings of cholestasis and cytolysis. The diagnosis of tubulointerstitial nephropathy with cortical microcysts associated with hepatic fibrosis was based upon laboratory, radiological, and histological data. This rarely described disorder is characterized by an early clinical onset and unfavourable progression to end-stage renal failure before the age of 2.