[Renal infarction in an adolescent carrier of the sickle cell trait]. / Infarctus rénal chez un adolescent porteur d'un trait drépanocytaire.

We report the case of a 15-year-old teenager, carrier of the sickle cell trait (haemoglobin AS), who presented a renal infarction. Besides, the patient also presented a renal ectopia. It is tempting to link these two particularities and the ischemic attack. The kidney is a target of this hemoglobinopathy, in its homozygous and possibly even heterozygous form. However, the analysis of the literature does not retain renal vascular accidents as a complication of sickle cell trait. Kidney position abnormalities also do not appear to be a contributing factor. It is, however, necessary to be attentive in adult heterozygous subjects to a faster than normal decline in glomerular filtration. The search for other risk factors (hypertension, diabetes, dyslipaemia) is desirable. The implementation of specific monitoring requires additional work.

Nous rapportons le cas d'un adolescent de 15 ans, porteur du trait drépanocytaire (hémoglobine AS), ayant présenté un infarctus rénal. Le patient présentait, par ailleurs, une ectopie rénale. Il est tentant de relier ces deux particularités et l'accident ischémique. Le rein est une cible de cette hémoglobinopathie, dans sa forme homozygote et peut-être même hétérozygote. Toutefois, l'analyse de la littérature ne retient pas les accidents vasculaires rénaux comme complication du trait drépanocytaire. De même, les anomalies de position du rein n'apparaissent pas comme facteur favorisant. Il faut cependant être attentif, chez les sujets hétérozygotes adultes, à un déclin de la filtration glomérulaire plus rapide que la normale. La recherche d'autres facteurs de risque (hypertension, diabète, dyslipémie) est souhaitable. La mise en place d'un suivi spécifique requiert des travaux complémentaires.

[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation]. / Syndrome néphrotique congénital sévère avec mutation NPH S1.

The congenital nephrotic syndrome is a rare and severe pathology, and its management represents a real challenge for pediatric nephrologists. We report the case of a congenital nephrotic syndrome secondary to a homozygous mutation of the NPHS1. The young patient has a severe clinical course, and benefits of a management by anti-proteinuric treatment and a unilateral nephrectomy. This clinical case illustrates the difficulties of the management of a severe congenital nephrotic syndrome. To date, it is difficult to identify these patients beforehand because there is a poor correlation between the genotype and the phenotype of the NPHS1 mutation. There are two managements described in the literature: an early bilateral nephrectomy at 7 kg of weight with a renal transplant around 10 kg, versus a conservative management via an anti-proteinuric treatment and/or an unilateral nephrectomy. Current evidence is based on retrospective studies and the choice of a conservative approach versus early bilateral nephrectomy should take into account the severity of protein loss and its complications.

Le syndrome néphrotique congénital est une pathologie rare et sévère, dont la prise en charge représente un défi pour les néphrologues pédiatriques. Nous rapportons le cas d'un jeune patient présentant cette pathologie secondaire à une mutation homozygote du gène NPHS1. Il présente un tableau clinique sévère et bénéficie d'un traitement anti-protéinurique et d'une néphrectomie unilatérale. Ce cas clinique illustre les difficultés de la prise en charge des cas sévères, dont l'identification préalable est difficile à ce jour car la corrélation entre le génotype et le phénotype de la mutation NPHS1 est pauvre. Il existe deux prises en charges décrites dans la littérature : une néphrectomie bilatérale précoce vers 7 kg de poids et une greffe rénale vers 10 kg, ou bien une prise en charge conservative via un traitement anti-protéinurique et/ou une néphrectomie unilatérale permettant de postposer la greffe. Les données actuelles n'étant basées que sur des études rétrospectives, le choix entre une approche conservative et une néphrectomie bilatérale précoce doit prendre en compte la sévérité de la déperdition protéique et ses complications.

[How I explore and treat a neonatal renal vein thrombosis: a case report]. / Comment j'explore et traite une thrombose veineuse renale néonatale: àpropos d'un cas.

Neonatal renal vein thrombosis is a rare condition. The present case is rather unfrequent and particularly educative since it shows the complete diagnostic triad including hematuria, flank mass and thrombocytopenia. The diagnosis relies on the demonstration, by Doppler ultrasound, of an obstructed renal venous bed. The investigation is completed by a platelet count and the determination of the prothrombin time, of the activated partial thromboplastin time as well as of the concentration of fibrinogen. The screening also includes the search for a possible etiology, such as a deficiency in coagulation proteins, the presence of antiphospholipid antibodies or of a genetic mutation of one of the coagulation factors. Since there exist no evidence based guidelines for the management of the disease, we will discuss the diagnosis and treatment in relation with the published literature.

[Empirical antibiotic therapy for urinary tract infection in children. Analysis of three hundred patients admitted to a general hospital]. / Antibiothérapie empirique dans les infections urinaires de l'enfant. Analyse de trois cents patients admis dans un hôpital général.

For more than 25 years, treatment of acute pyelonephritis in children has been the subject of debates. Recent publications (including of Cochrane database review) let think that oral antibiotics could be as safe as intravenous treatement at least regarding the major concerns of urinary infection: renal scaring, time to defervescence and sterilization of urine at 72 hours. To investigate if such a protocol could be applied in our country, we first determine the rate of bacterial resistance to oral antibiotics commercially available in Belgium. Antibiograms of 191 outpatients with a diagnosis of pyelonephritis show that neither amoxicillin, amoxicillin/clavulanate nor trimethoprim/sulphamethoxazol can be recommended as an empiric treatment of febrile urinary infection among children in our region. Only 80% of bacterial strains were sensitive to amoxicillin/clavulanate, a level far below the rate reported in literature in favour of oral treatment of acute pyelonephritis (> 90%). Cefuroxime seems to be a better candidate as first line therapy, however no clinical study supports its use.

[Renal tumors in children. A single center study of 31 cases]. / Les tumeurs rénales de l'enfant. Une etude monocentrique: a propos de 31 cas.

In order to illustrate epidemiologic features and survival rate, 31 Wilm's tumours treated in our institution have been retrospectively studied. The mean age at diagnosis in our series was surprisingly higher than usually described: 25% of the patients were older than 8 years. Moreover, a mesoblastic nephroma congenital kidney tumour--appeared in a 10 month old girl. Symptoms were usually abdominal mass or gross hematuria. Young children are often brought to medical attention because of abdominal swelling: a large flank mass was palpable in all children under 5 years. Our study shows that preoperative chemotherapy results in a less intensive treatment regimen conducting probably to less sequellae. Event free survival and overall survival were respectively 87% and 94% at 10 years after diagnosis. Renal insufficiency was the most important side effect: 2 children required renal transplantation.

[Respiratory syncytial immunoprophylaxis with palivizumab]. / Prévention de l'infection respiratoire à VRS par immunoglobulines monoclonales spécifiques (palivizumab, Synagis).

Respiratory syncytial virus (RSV) is a serious pathogen causing significant morbidity, especially in premature infants and infants with chronic lung disease or significant congenital heart disease. There is no specific treatment for RSV infection and the therapy is essentially supportive. Therefore, prophylaxis is the best strategy against RSV disease. Passive immunization with monoclonal antibodies (palivizumab) provides protection against severe RSV infection and significantly reduces hospitalizations in high-risk childrens. However, palizumab is an expensive drug and its use should be reserved for children at the highest risk of severe RSV disease.

[Management of acute bronchiolitis in newborns]. / Prise en charge de la bronchiolite aiguë du nourrisson.

Acute bronchiolitis is a common condition of viral origin with attention of treating hypoxia and maintaining hydration. Medications are often ineffective, although widely used in our countries. If the spontaneous cure is the rule, the persistence of a respiratory symptomatology (cough or wheezing) during several weeks is not exceptional.

[Vaccination against Rotavirus: an old challenge, an ongoing reality]. / Comment je préviens...le Rotavirus par la vaccination: motivations, enjeux et modalités.

Rotavirus are the leading cause of diarrhea and diarrhea related death among infants and young children. Every year rotavirus is associated with over half a million of deathss, mainly in developping countries. Development of a safe vaccine is nowaday the only way to control the disease. A life attenuated oral rotavirus vaccine will be commercialized in a few months in Belgium.

[The hemolytic uremic syndrome: prime reason for acute renal failure in children]. / Le syndrome hémolytique et urémique. Première cause d'insuffisance rénale aiguë de l'enfant.

The Hemolytic Uremic Syndrome (HUS) is the prime cause for acute renal failure in children. The HUS is a combination of hemolytic anemia, thombopenia and acute nephropathy: all signs of a thrombotic microangiopathy. Onset occurs generally in infancy and is often associated with severe bloody diarrhea. Most of those cases are caused by Escherichia coli O157:H7 witch produces an exotoxin responsible for the microangiopathy. We discuss the treatment of HUS based on the experience acquired since 1994 in our Paediatric Intensive Care Unit (PICU), University of Liege. The frequent association of dehydration, multi-systemic impairment and reno-vascular hypertension justifies the early admission for PICU-surveillance. This allows the difficult fluid balance management in a setting of renal and pre-renal failure.

The safety and efficacy of nitric oxide therapy in premature infants.

OBJECTIVES: To assess the safety-efficacy balance of low-dose inhaled nitric oxide (iNO) in hypoxemic premature infants because no sustained beneficial effect has been demonstrated clearly and there are concerns about side effects. STUDY DESIGN: Eight hundred and sixty infants <32 weeks were randomized at birth to receive 5 ppm iNO or placebo when they presented with hypoxemic respiratory failure (HRF) defined by a requirement for mechanical ventilation, fraction of inspired oxygen (FIO 2 ) >40%, and arterio-alveolar ratio in oxygen (aAO 2 ) <0.22. The primary end point was intact survival at 28 days of age. RESULTS: Sixty-one of 415 infants presented with HRF and were compared with 84 of 445 controls who presented with HRF. There was no difference in the primary end point (61.4% in infants [23% with HRF who were treated with iNO] vs 61.1% in controls [21.4% in controls with HRF]; P = .943). For the infants with HRF who were treated with iNO, there was no significant difference from controls for intraventricular hemorrhage (IVH) (6% vs 7%), necrotizing enterocolitis (8% vs 6 %), or patent ductus arteriosus (PDA) (34% vs 37%). Compared with nonhypoxemic infants, the risk of bronchopulmonary displasia (BPD) increased significantly in HRF controls (OR = 3.264 [CI 1.461-7.292]) but not in infants with HRF who were treated with iNO (OR = 1.626 [CI 0.633-4.178]). CONCLUSIONS: iNO appears to be safe in premature infants but did not lead to a significant improvement in intact survival on day 28.

Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias.

Congenital bony fusion of the maxilla and mandible is a rare condition. Two classifications were previously proposed dealing exclusively with craniofacial malformations. Most of the reported cases to date represent either aglossia-adactylia or hemifacial microsomia syndromes. We report a young girl with bony syngnathia associated with multiple defects (severe microcephaly, coloboma, vertebral segmentation defects), growth and mental delay. This patient is very similar to the patient described by Dobrow in 1983 and confirms the existence of this extremely rare disorder.

Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.

Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, brachydactyly, and impaired survival. Recently several other severe malformations were reported in the condition. Melnick-Needles syndrome is an X-linked dominant disorder. Affected males are usually sporadic cases. The exceptional males born to symptomatic women present with a lethal disorder comprising generalized osteodysplasia, deficiency of the first ray, and facial anomalies strikingly similar to those of otopalatodigital syndrome type 2. We report here on three boys with classical, severe, and lethal otopalatodigital type 2 syndrome, and three boys with severe (lethal) Melnick-Needles syndrome, born to affected mothers. We suggest that otopalatodigital type 1 and 2, Melnick-Needles syndrome and frontometaphyseal dysplasia, sharing many clinical manifestations and a similar mode of inheritance, are variants of the same condition: fronto-otopalatodigital osteodysplasia. The relationships to similar syndromes (i.e., Saint-Martin-Gardner-Morrisson syndrome, serpentine fibula syndrome, atelosteogenesis type 3, boomerang dysplasia, and Yunis-Varon syndrome) are discussed.

Koraxitrachitic syndrome: a syndromic form of self-healing collodion baby with residual dappled atrophy of the derma.

We report on a child with a generalized skin disorder associated with other minor anomalies. At birth, the child presented as a collodion baby, with patchy erythema, generalized irregular dermal atrophy, alopecia, absent eyelashes and eyebrows, and conjunctival pannus. He also had hypertelorism, prominent nasal root, large mouth, micrognathia, brachydactyly, syndactyly involving all interdigital spaces, and camptodactyly of fingers III-V. The hyperkeratotic membrane thinned progressively, leaving a mottled reticulated skin atrophy, with patchy areas of yellowish hyperpigmentation and papyraceous areas. Hair and nails were dystrophic. Mental development was borderline normal. The histological hallmarks of the skin manifestations combined orthokeratotic hyperkeratosis and marked atrophy of the dermis. The dermal extracellular matrix was immature, and factor XIII-a positive dendrocytes were rare and globular rather than dendritic. We frame as a hypothesis that the disease is due to or associated with a defect in maturation of a subset of dermal dendrocytes during fetal life. This entity may be designed as the koraxitrachitic syndrome (kappaomicronrhoalphaxi:grapnel- taurhoalphachiiotatauepsilonsigma: roughness)

[Home management of bronchopulmonary dysplasia]. / Prise en charge à domicile de la dysplasie bronchopulmonaire.

Bronchopulmonary dysplasia remains a significant clinical problem associated with the success on survival of neonatal intensive care and has become the common est cause of respiratory insufficiency in infants. The severity of the disease is highly variable from asymptomatic chronic lung disease to patients needing home care with continuous oxygenotherapy and artificial ventilation. Management must try to insure not only appropriate growth and neurodevelopment but also satisfactory well being of the patients. Current medications (aerosoltherapy, diuretics, steroids), rules for oxygenotherapy, follow-up and expected evolution are discussed according to the severity of the disease.

Private multiple congenital anomaly syndromes may result from unbalanced subtle translocations: t(2q;4p) explains the Lambotte syndrome.

In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital anomaly/mental retardation (MCA/MR) syndrome observed in 4 of 12 sibs from a probably consanguineous mating [Verloes et al., Am J Med Genet 1990; 37:119-123]. Major manifestations included intrauterine growth retardation (IUGR), microcephaly, large soft pinnae, hypertelorism, beaked nose, and extremely severe neurologic impairment, with holoprosencephaly in one instance. After the observation of a further affected child born of one unaffected sister, in situ hybridization analysis and chromosome painting techniques demonstrated a subtle t(2;4)(q37.1; p16.2) translocation in the mother, suggesting a combination of 2q/4p trisomy/monosomy in all of the affected children of the family. Many private sporadic or recurrent MCA/MR syndromes maybe due to similar symmetric translocations, undetectable by conventional banding techniques.

Percutaneous retrieval of broken silastic catheter from the left atrium in a critically Ill premature infant.

A critically ill premature neonate (birthweight 1,395 g, gestational age 30 wk) had a broken silastic catheter lodged in the left atrium. We successfully retrieved the foreign body by percutaneous approach using a helical basket catheter under echocardiographic control. Such a therapeutical option for a broken, lightly radiopaque catheter has not been previously described in very low birthweight, critically ill infants.

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form.

We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra- and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and over 3-fold the normal in the heart. In this organ, over 50% of the intracellular space was occupied by glycogen and possibly oligosaccharides, as demonstrated by the quantitative morphometric analysis of electron micrographs. The activity of acid alpha-glucosidase was increased in the heart, skeletal muscles, and liver, but was normal in leukocytes. A review of the 11 previously published pedigrees of lysosomal glycogen storage disease with normal in vitro alpha-glucosidase activity allows the delineation of three clinical entities: juvenile and neonatal pseudo-Pompe diseases and partial Pompe disease. Partial Pompe disease, due to the tissue-specific absence of acid alpha-glucosidase, was observed in a single patient. The most common form is the late-onset pseudo-Pompe disease, which is characterized by severe cardiomyopathy and mild myopathy appearing in the second or third decade, prominent arrhythmia with Wolf-Parkinson-White syndrome, and sometimes mental retardation. Patients reported as suffering from Antopol disease probably belong to this group. Dominant inheritance (autosomal or X linked) is likely in most families. The present report appears to be the first one to describe a rapidly fatal neonatal form of lysosomal glycogenosis without acid maltase deficiency. The mode of inheritance of this form is not known. Differential diagosis includes Pompe disease (similar histology) and cardiac phosphorylase b kinase deficiency (similar clinical course). The delineation of neonatal pseudo-Pompe disease makes enzymatic confirmation mandatory in each case suspected of Pompe disease.

Tricho-hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies.

We report on two sibs with syndromal congenital iron storage disease. Prenatal symptoms were IUGR, hydramnios, and placental hyperplasia. Clinical anomalies included hypertelorism and sparse, thin, curly hair (trichomalacia). Clinical course was marked by intractable diarrhoea, with normal histological and enzymological studies, cholestatic jaundice, hepatomegaly appearing after 30 days, and progressive liver failure, leading to death after a few months. The only metabolic anomaly was progressive hypermethioninemia. Pathologic examination of both children showed a similar pattern of multivisceral iron deposit compatible with a diagnosis of neonatal hemochromatosis: extensive liver fibrosis or cirrhosis with nodular regeneration, cholestasis, ductular proliferation, and hepatic, pituitary, thyroidal, adrenal, and pancreatic iron deposition. The unusual course for neonatal hemochromatosis in both sibs combined with concordant extrahepatic anomalies suggest that they could have a specific iron storage syndrome with possible autosomal recessive inheritance, probably similar to the sibship reported by Stanckler et al. [Arch Dis Child, 57:212-216, 1982].