Homozygous 16p13.11 duplication associated with mild intellectual disability and urinary tract malformations in two siblings born from consanguineous parents.

The use of array-comparative genomic hybridization (array-CGH) in routine clinical work has allowed the identification of many new copy number variations (CNV). The 16p13.11 duplication has been implicated in various congenital anomalies and neurodevelopmental disorders, but it has also been identified in healthy individuals. We report a clinical observation of two brothers from related parents each carrying a homozygous 16p13.11 duplication. The propositus had mild intellectual disability and posterior urethral valves with chronic renal disease. His brother was considered a healthy child with only learning disabilities and poor academic performances. However, a routine medical examination at 25-years-old revealed a mild chronic renal disease and ureteropelvic junction obstruction. Furthermore, the father presented with a unilateral renal agenesis, thus it seemed that a "congenital anomalies of kidney and urinary tract" (CAKUT) phenotype segregated in this family. This may be related to the duplication, but we cannot exclude the involvement of additional genetic or non-genetic factors in the urological phenotype. Several cohort studies showed association between this chromosomal imbalance and different clinical manifestations, but rarely with CAKUT. The duplication reported here was similar to the larger one of 3.4 Mb previously described versus the more common of 1.6 Mb. It encompassed at least 11 known genes, including the five ohnologs previously identified. Our observation, in addition to expanding the clinical spectrum of the duplication provides further support to understanding the underlying pathogenic mechanism.

Household transmission of haemolytic uraemic syndrome associated with Escherichia coli O104:H4, south-western France, June 2011.

Following the outbreak of haemolytic uraemic syndrome (HUS) on June 2011 in south-western France, household transmission due to Escherichia coli O104:H4 was suspected for two cases who developed symptoms 9 and 10 days after onset of symptoms of the index case. The analysis of exposures and of the incubation period is in favour of a secondary transmission within the family. Recommendations should be reinforced to prevent person-to-person transmission within households.

[Chikungunya in paediatrics: epidemic of 2005-2006 in Saint-Denis, Reunion Island]. / Aspects pédiatriques de l'épidémie de Chikungunya à l'île de la Réunion.

UNLABELLED: During the southern-hemispheric 2005-2006 summer, Reunion Island was struck by an epidemic of Chikungunya (Chik), which affected more than a third of the overall population. OBJECTIVES: Our objective was to describe pediatric cases of Chick. MATERIAL AND METHODS: We conducted a retrospective descriptive monocentric study of confirmed pediatric cases of Chik recruited at Saint-Denis' departmental hospital during the peak of the epidemic (January 1st to April 30th 2006). RESULTS: Eighty-six children aged 10 days to 18 years were included. In addition to the typical clinical presentation, we observed other phenotypes. Well-known complicated forms with neurologic, cardiac, gastro-intestinal (plus dehydration) involvement were thoroughly investigated using modern medical technology. We observed 2 fatal cases of acute disease in 9-year-old children: death resulted from a central nervous system insult in one case, and multisystemic neurological, cardiac, haemorrhagic involvement in another. Severe acute presentations requiring hospital admission involved mainly children aged less than 6 months, and those with cardiac, skin and neurologic impairment. The study identified 3 cases of epidermolysis bullosa, which to our knowledge, have never been described previously. CONCLUSION: Chik in children warrants further research in order to propose early and appropriate treatments to avoid complications.

[Indications and results of intradetrusor of botulinum toxin type A injections in children]. / Indications et résultats des injections intradétrusoriennes de toxine botulique type A chez l'enfant.

OBJECTIVE: The authors report their experience of intradetrusor injections of botulinum toxin type A (TBA) in children. This treatment was deliberately limited to patients with acquired neurogenic bladder, high detrusor pressures and urinary incontinence despite anticholinergic therapy. MATERIAL: Six children with a mean age of 11.6 years (range: five to 18 years) treated by intermittent catheterization presented an indication for intradetrusor injection of TBA. One half of these patients presented recurrent urinary tract infections. Their leak point pressure was greater than or equal to 40 cmH(2)O (mean: 67+/-33.6) and the bladder capacity of these children was less than the capacity predicted for age (mean: 68%+/-32.8). TBA was injected into 20 to 30 sites by cystoscopy at a dose of 12 IU/kg of body weight (maximum dose: 300 IU). RESULTS: No adverse effects were observed. Only one child still presented incontinence, but only during urinary tract infections. Four children were able to stop their anticholinergic treatment. Two months after the injection, all children had normal detrusor pressures (mean: 24.2+/-7.4 cmH(2)O). The maximum cystomanometric capacity then exceeded the predicted capacity (113%+/-22). CONCLUSION: In acquired neurogenic bladder with detrusor hyperactivity, TBA protects the upper urinary tract (by decreasing detrusor pressures) and controls urinary incontinence (by increasing the functional bladder capacity), without preventing subsequent bladder augmentation.

[Solitary kidney: Management and outcome]. / Conduite à tenir devant un rein unique.

Solitary functioning kidneys form an important subgroup of congenital anomalies of the kidney and urinary tract (CAKUT). A solitary kidney can be congenital or acquired after unilateral nephrectomy and is often associated with ipsilateral urogenital anomalies. Both types of solitary functioning kidney are associated with an increased risk of chronic kidney disease (CKD). A low functional nephron number results in compensatory glomerular hypertension and enlargement of remnant nephrons, indicating glomerular hyperfiltration. Glomerular hyperfiltration may lead to glomerulosclerosis, which further results in hypertension, proteinuria, and decline of the glomerular filtration rate (GFR) in the long run. About 20-30% of patients with solitary functioning kidney have hypertension, proteinuria, or reduced GFR during childhood, especially those with associated CAKUT. Regular and lifetime monitoring (including growth, blood pressure, serum creatinine, proteinuria or microalbuminuria, and renal ultrasound) is required. The frequency and modality of follow-up should be adapted to individual risk for CKD. Early detection of renal injury and timely nephroprotective measures are critical.

The parapelvic renal cyst. A rare aetiology of blood hypertension in children.

Parapelvic renal cysts are uncommon in children. We report a case occurring in a 2-year-old girl, diagnosed during follow-up for blood hypertension. The cyst measured 8 cm in length. There was associated hydronephrosis, due to obstruction of the renal pelvis. Surgical resection was performed. Normotension returned within 3 months, and the obstruction disappeared. A renovascular mechanism can be evoked to explain hypertension.

[Acute leptospirosis in children in Reunion Island: a retrospective review of 16 cases]. / Leptospiroses de l'enfant à l'île-de-la-Réunion: à propos de 16 cas.

INTRODUCTION: Leptospirosis is a worldwide zoonosis caused by pathogenic species of the genus Leptospira. This infectious disease known with a high incidence in Reunion island (French overseas territories in Indian Ocean) is in state of endemia especially during rains season. OBJECTIVES: The aim of our work was to identify the mains epidemiologic, clinical, biological, and therapeutic features of leptospirosis in children. POPULATION AND METHODS: We conducted a retrospective analysis of children hospitalized in pediatric unit with the diagnosis of leptospirosis from January 2001 to June 2004 in general hospital of Saint-Denis. We found out 16 cases (mean age 14 years, range 9-17), mainly boys (ratio 7:1). RESULTS: The patient sera reacted most strongly with Leptospira interrogans serovars canicola (66%), icterohaemorrhagiae (17%), and sejroe (17%). Epidemiologic data indicated contact with contaminated water in most cases (68%). Jaundice was present in 43% of the patients, increased transaminase levels in 56%, renal failure in 50%, meningitis in 25%, ECG abnormalities in 6%, respiratory manifestations in 6%, systemic manifestations in 12% and thrombocytopenia in 56%. Death rate was zero, but renal failure is likely to induce life prognosis. DISCUSSION: The diagnosis' traps are numerous, leading to an underestimation and underdiagnosis of the leptospirosis, more over there is a lack in specific, reliable, and quick biological test to make the diagnosis. A negative polymerase chain reaction analysis (PCR) do not exclude the diagnosis, and the microagglutination test (MAT) remains the reference of the undoubtly diagnosis of leptospirosis. It appears that it is more often the conjunction of epidemiologic data (young boy, swimming or fishing in river, rains season), with clinical and biological data that lead to the diagnosis. Diagnosis was not evoked at the emergency room in 37% of the patients. CONCLUSION: Leptospirosis should be considered face to an influenza like illness especially during rains season.

[Parvovirus B19 thrombocytopenic purpura complicated with a cerebral hemorrhage]. / Purpura thrombopénique à parvovirus B19 compliqué d'hémorragie cérébroméningée.

UNLABELLED: Severe hemorrhage complications are rare in idiopathic thrombocytopenic purpura. This pathology is often considered as benign. CASE REPORT: We report the case of a four-year-old boy presenting a parvovirus B19 idiopathic thrombocytopenic purpura. Despite early and repeated use of intravenous immunoglobulin, the evolution was characterized by the secondary apparition of a cerebral hemorrhage. It was lethal seven days after the initial diagnosis. CONCLUSION: Parvovirus B19 should be investigated as an etiologic agent of idiopathic thrombocytopenic purpura, using PCR. The unpredictive aspect of severe hemorrhage complications, especially cerebral hemorrhages, explains the potential severity of this disease.

[Significance of the urine strip test in case of stunted growth]. / Intérêt de l'examen des urines à la bandelette en cas de retard de croissance.

Observation of stunted growth in children usually leads the general practitioner to refer the patient to endocrinologists or gastroenterologists. In most cases, after a complementary check-up, the diagnosis is made and treatment is initiated. However, certain cases remain undiagnosed, particularly renal etiologies, such as proximal tubulopathy. The urine strip test at the initial check-up would be an easy and inexpensive test to avoid delayed diagnosis. The aim of the present paper is to increase general physicians' and pediatricians' awareness of the significance of questioning the parents and using the urine strip test for any child presenting stunted growth. We report a patient case of a 20-month-old child admitted to the emergency department for severe dehydration. He had displayed stunted growth since the age of 5 months and showed a negative etiologic check-up at 9 months of age. Clinical examination at admission confirmed stunted growth with loss of 2 standard deviations and signs of dehydration with persistent diuresis. Skin paleness, ash-blond hair, and signs of rickets were also observed and the urine strip test showed positive pads for glycosuria and proteinuria. Polyuria and polydipsia were also revealed following parents' questioning, suggesting proximal tubulopathy (Fanconi syndrome). Association of stunted growth, rickets, polyuria and polydipsia, glycosuria (without ketonuria and normal glycemia), and proteinuria suggest nephropathic cystinosis. Ophthalmic examination showed cystine deposits in the cornea. The semiotic diagnosis of nephropathic cystinosis was confirmed by leukocyte cystine concentrations and genetic investigations. This case report clearly illustrates the significance of the urine strip test to easily and quickly concentrate the diagnosis of stunted growth on a renal etiology (glycosuria, proteinuria), especially on proximal tubulopathy for which the most frequent cause is nephropathic cystinosis. Specificity of nephropathic cystinosis treatment is that the age of treatment initiation is crucial and determinant for the prognosis of the disease and the onset of final stage renal failure. Therefore, the urine strip test should be included in the systematic check-up of stunted growth to identify any renal etiology.

Pulmonary mechanics in ventilated preterm infants with respiratory distress syndrome after exogenous surfactant administration: a comparison between two surfactant preparations.

The effects of two surfactant preparations on lung mechanics have been studied on 24 ventilated premature infants with respiratory distress syndrome (RDS): 13 were given artificial surfactant (Exosurf Neonatal, Burroughs-Wellcome) and 11 natural porcine surfactant (Curosurf, Laboratoire Serono France). Measurements of respiratory system compliance (Cdyn, Crs) and resistance (Rrs) were performed immediately before surfactant administration and repeated 6, 18, 24, 48, and 72 hours later. With Exosurf treatment, 6 hours after surfactant administration inhaled O2 concentration (FlO2) could be lowered from (0.72 +/- 0.20, to 0.62 +/- 0.33; P < 0.05), whereas Crs did not change (0.37 mL/cmH2O/kg, +/- 0.14 vs. 0.39 +/- 0.12, NS). After 24 hours and during the following days a significant increase in Crs occurred (24 hours post-Exosurf: 0.51 +/- 0.18, P < 0.05). With Curosurf treatment, the improvement in oxygenation was greater and FlO2 could be lowered much more after 6 hours (from FlO2, 0.78 +/- 0.23 to 0.34 +/- 0.11, P < 0.01). This was associated with an increase in Crs (from 0.39 +/- 0.09 to 0.59 +/- 0.17, P < 0.05). During the following days, Crs was significantly higher in the group treated with Curosurf. Resistance was not altered by the type of surfactant preparation used except after 72 hours, when Rrs increased in the group treated with Exosurf. In conclusion, Curosurf appears to be more effective than Exosurf with regard to immediate pulmonary changes in ventilator treated premature infants with RDS. A rapid increase in Crs after Curosurf treatment indicates that recruitment of new functional areas of the lung is likely to be associated with a stabilization of small airways and alveolar units.

A short-stay observation unit improves care in the paediatric emergency care setting.

The aim of this study was to evaluate the influence of a short-stay observation unit (SSOU) on the hospitalization rate, the authors have analysed the activity of a SSOU opened in 1992 in a paediatric emergency department (PED) and the number of children hospitalized between 1987 and 1996. Among 2321 patients admitted to the SSOU in 1996, 644 medical patients have been analysed, showing a young population (55% under 3 years old), living in the town or surroundings (70%) and usually have not been referred by a general practitioner (64%). Twenty per cent were admitted for accurate diagnosis (group A), 49% for treatment and observation of a recognized acute pathology before decision of discharge (group B), and 31% waiting for a bed in a paediatric ward (group C). Sixty-eight per cent of children spent less than 6 hours in the SSOU, and 79% of those from groups A and B were thereafter discharged home. Between 1987 and 1991, the number of children hospitalized increased 5% per year on average. After the opening of the SSOU in 1992, this increase has been stopped although the number of medical referrals to PED was still going up. The SSOU in a PED can provide comprehensive care to young children requiring short-term treatment or observation, and is effective in limiting unappropriate hospitalizations.

Epidemiology of poisoning in children: a 7-year survey in a paediatric emergency care unit.

Acute poisoning in children is still a major public health problem, and represents a frequent cause of admission in emergency departments. We carried out an epidemiological study of poisonings leading to admission to a paediatric emergency care unit (PECU). We analysed data from 2988 children who were admitted to the PECU of Bordeaux, France with acute poisoning from 1989 through 1995. During the 7-year period, the poison exposure numbers decreased slightly from 490 to 382 (6% vs. 3% of total medical emergencies). This represented a mean annual incidence of 1.4 poison exposures per 1000 children younger than 18 years of age and living in Bordeaux and its surroundings. Characteristics of the study population, circumstances of poisoning and substances involved were similar to those previously described. Eighty per cent of children were younger than 5 years of age, presented with a benign course. Forty per cent were not treated and 75% were discharged home either immediately or within 24 hours of admission. Only 1.5% of cases, mainly adolescent girls who attempted suicide, were admitted to a paediatric intensive care unit. Overall mortality rate was 0.33/1000. In children, most cases of acute poisoning are accidental, benign, and mainly attributed to the ingestion of a non-toxic substance. This points to the need for better information of the population on availability of poison control centre calling facilities, in order to decrease the number of admissions to the PECU. Patients suspected of having ingested a potentially dangerous substance can be managed in short-stay observation units, thus avoiding unnecessarily prolonged hospitalization. Acute poisoning in children remains a frequent problem, highlighting the need to develop an education programme on primary prevention in our region.

Extra-lobar pulmonary sequestration with prenatal diagnosis. A report of 5 cases and review of the literature.

UNLABELLED: THE PURPOSE of this work was to study the pre- and postnatal features of extra-lobar pulmonary sequestration (ELPS) and consider their diagnosis and treatment. METHODS: Five ELPS diagnosed prenatally (1986-1992) were reviewed retrospectively. RESULTS: In 2 cases, prenatal diagnosis was based on the presence of a left suprarenal mass for which tumor markers proved negative postnatally. These 2 infants underwent surgery at 3 weeks of age for supposed neuroblastoma or teratoma. In the other 3 cases, diagnosis was based on the presence of a solid mass at the left base of the thorax. The systemic vessel was visualized in 2 of these cases; mediastinal displacement was noted in one case and hydrothorax (which recurred after puncture) in the other. The latter infant was born at 34 weeks of amenorrhea, and hydrothorax disappeared postnatally after excision of the ELPS. The other two infants were asymptomatic at birth and underwent surgery respectively on the 8th day and during the 6th month of life. CONCLUSION: ELPS can take the form of a mass in the abdomen or at the base of the thorax. For subdiaphragmatic ELPS, surgical excision (possibly preceded by percutaneous puncture) is required if the diagnosis is uncertain. Supradiaphragmatic ELPS can be complicated prenatally by hydrothorax or even hydrops, requiring drainage in utero. If the infant is asymptomatic postnatally, systematic surgical excision should be considered. Extra-lobar pulmonary sequestrations (ELPS) are masses of nonfunctional lung tissue vascularized by an abnormal systemic artery and covered with a pleural layer isolating them from the rest of the parenchyma. The diagnosis of these malformations is based increasingly on obstetrical ultrasonography. The purpose of this study was to specify the prenatal features of these malformations and define the diagnostic approach and therapeutic strategy.

[Adverse effects of ketoprofen after intrauterine exposure. Value of plasma determination]. / Les effets secondaires du kétoprofène après exposition intra-utérine. Intérêt du dosage plasmatique.

BACKGROUND: Prostaglandin synthetase inhibitors have been used to prevent the onset of premature labor. But a small number of newborn infants have been reported with premature closure of the ductus arteriosus, pulmonary hypertension and/or oliguria. POPULATION AND METHODS: Eleven neonates from seven pregnancies were admitted because they suffered from adverse effects of ketoprofen given to their mothers before delivery. The plasma ketoprofen level was measured in 6 of the neonates. RESULTS: Ten of the 11 neonates had renal dysfunction which was lethal in three; two of the 11 developed cardiopulmonary complications, lethal in one. The ketoprofen concentration in plasma was high in the first few hours of life in three patients. CONCLUSION: In the absence of precise risk factors for prognosis, repeated drug measurements in the maternal plasma before delivery and in their babies after birth could be a predictive factor.

[Severe community-acquired pneumonia in immunocompetent children]. / Pneumopathies communautaires graves chez l'enfant non immunodéprimé.

Severe community-acquired pneumonia (CAP) is still a serious disease with a high mortality rate, especially in developing countries. Children under 5 years are more prone to severe CAP. In this article, the authors review the definition and clinical criteria used in the initial evaluation and decision to hospitalize patients. The diagnosis approach requires only a limited number of laboratory tests before initiating the supportive measures and wide spectrum antimicrobial therapy. If the patient fails to respond favorably 48-72 hours after initiating therapy, more invasive investigations are indicated. After resolution, an immunological evaluation is warranted.

[Severity of ingestion of caustic substance in children]. / Gravité des ingestions de produits caustiques chez l'enfant.

BACKGROUND: Caustic ingestion is frequent in children, sometimes leading to esophageal stricture. PATIENTS AND METHODS: Between 1988 and 1994, esogastroscopy was performed in 65 children after caustic ingestion. The children were classified in three groups: no lesion (group A), minimal lesions (group B) and severe lesions (group C). Nature of the caustic substance, clinical signs and evolution were compared in the three groups. RESULTS: Median age was 2 years for the 65 children (24 girls, 41 boys). Ingestion occurred at home (94%) during meal periods. Substances were dishwater detergents (n = 14), oven cleaner (n = 10), bleach (n = 9), washing powder (n = 4), others (n = 20), more often in a liquid form (n = 37) than solid (n = 28). Children had no symptoms (57%), presented emesis (n = 20) or abdominal pain (n = 10) not correlated to endoscopic findings, and hematemesis (n = 3) or respiratory distress (n = 4), both symptoms seen only in group C. Buccal lesions (41%) were not correlated to endoscopic findings. After endoscopy, 28 children (43%) were classified into group A and 20 children (31%) in group B. Among the 17 children (26%) of the group C, eight developed an esophageal stricture: seven long strictures requiring replacement of the esophagus, one short stricture requiring repeated dilations. CONCLUSION: Esophageal stricture is still a severe complication after caustic ingestion. These data stress the interest of controlled studies to confirm the preventive role of high dose corticosteroids, and the importance of the prevention of accidental caustic ingestions in children.

[Increasing frequency and diagnostic difficulties in intestinal stenosis after necrotizing enterocolitis]. / Fréquence accrue et difficultés diagnostiques des sténoses intestinales après entérocolite ulcéronécrosante.

BACKGROUND: Stenosis after necrotizing enterocolitis (NEC) has increased from 15 to 57% over the last 10 years in our unit. The aim of this study is to point out the difficulty of diagnosis and treatment, and search for factors explaining this increase. PATIENTS AND METHODS: From 1986 to 1991, 42 newborns had NEC, followed by intestinal strictures in 19 of them (57% of the 33 survivors). Data from these 19 patients were compared with those of the 14 without intestinal strictures. The 33 survivors were also compared with those of an earlier study including 25 NEC seen from 1979 to 1986. RESULTS: After medical treatment (n = 12), intestinal stenosis led to occlusion after three weeks, was located to both small and large intestine and was short and tight. After surgical treatment (n = 7), stenosis was shown by opacification before digestive anastomosis (n = 5) or revealed by occlusion (n = 2); it stayed on the colon, was long or multiple, requiring extensive resections. No difference could be found between data from patients with or without stenosis. Although newborns were actually more premature, the risk of stenosis was more frequent when newborns of same gestational ages and/or weights were compared. CONCLUSIONS: Intestinal stenosis is a frequent complication after NEC; its diagnosis is often difficult and requires extensive digestive resections. No clinical or therapeutic factor could be found to explain the actual increase in frequency.

[Respiratory emergencies in infants]. / Urgences respiratoires du nourrisson.

Respiratory distress in childhood is a frequent cause of admission to the emergency department. The initial management requires a rapid clinical evaluation in order to initiate appropriate interventions, which will improve respiratory status, and avoid cardiac arrest and hypoxic encephalopathy. There are many possible etiologies but in the vast majority of cases the following conditions are observed: nasal obstruction before 3 months and laryngitis after 6 months. Moreover, during winter acute viral bronchiolitis is the most common disease of the respiratory tract during the first year of life, and occurs in annual epidemics. The diagnostic of an inhaled foreign body must always be suspected. Prevention is based upon information given to families, as well as the medical community, which often minimises the seriousness of inhalation hazards.

[Clinical and biochemical characterization of childhood urolithiasis]. / Caractéristiques cliniques et biochimiques des lithiases urinaires de l'enfant.

OBJECTIVES: Urolithiasis is rare in children, but the incidence has increased over the past few decades. This study aims at describing the clinical and biochemical characteristics, etiology, and treatment of urolithiasis in children. METHODS: This was a retrospective study of all children under 16 years of age seen at the Bordeaux University Children's Hospital with a diagnosis of urolithiasis. The diagnosis was confirmed either radiologically or clinically by the expulsion of the stone. RESULTS: A total of 186 children with a diagnosis of urolithiasis between 1994 and 2012 were included. The median age at diagnosis was 7.4 years. The male-to-female ratio was 1.9. The estimated annual incidence was around 5.5/100,000 children under 15 years of age in the past 5 years. The main presenting feature was nonspecific abdominal pain (71%). Metabolic calculi accounted for 48% of the patients with idiopathic hypercalciuria as the main cause. Genetic diseases accounted for 15% of cases. The proportion of infectious calculi was estimated at 33% and decreased in the past two decades. Stone fragments were sent for analysis in 86 children, and calcium oxalate was the major component (37%), followed by calcium phosphate (33%), purine (9%), and struvite (8%). At least 26% of patients experienced recurrence of stone passage. CONCLUSION: This retrospective study highlighted changes in characteristics of pediatric urolithiasis over time. Childhood-onset urolithiasis requires complete etiological work-up so that a metabolic cause with a high risk of recurrence does not go unrecognized.