Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

[Swallowing magnets: a dangerous game. A case report]. / Avaler des aimants : un jeu dangereux. A propos d'une observation.

Complications related to the ingestion of magnetic foreign bodies by children represents an affirmed health hazard in the United States. In France, an alert has been announced. We report the 1st case in France. Our aim is to alert pediatricians and emergency physicians and to draw attention to the particularities of this type of foreign body. Responsible for complications is the ingestion of at least 2 magnets, or 1 magnet and a metallic foreign body, with a time interval between ingestions. In these cases, it is strongly recommended to extract the foreign bodies with endoscopy if they have not yet passed the pylorus. For those further advanced in the intestinal tract, continuous observation is warranted and surgical extraction is indicated on apparition of 1st clinical symptoms.

[Ambulatory 24-hour home pH-metry: parental and familial reactions. Prospective study of 100 cases]. / La pHmétrie de 24 heures en ambulatoire à domicile: vécu parental et familial. Etude prospective de 100 cas.

BACKGROUND: The ambulatory twenty-four hour esophageal pHmetry is nowadays a common mode of assessment of gastro-esophageal reflux in children. The aim of this study was to evaluate the impact of the test on child and family's ordinary daily life. MATERIAL AND METHODS: One-hundred children (64 boys, 36 girls) were included in this study during a 10-month period from August 1992 until May 1993. Mean age was 2 years 9 months (range: 22 days--12 years). Forms with a list of questions concerning parental understanding of the test, child's reaction after introduction of the pH-electrode, general reactions in the household, and eventual disturbance of the child's temper and appetite, were given to the parents. Six months later, 81 families were contacted by telephone and asked the same questions. Children were divided into three groups: those under 1 year of age (n = 38), from 1 to 4 years (n = 35), and more than 4 years (n = 27). RESULTS: One child aged 2 months had to be admitted to hospital due to the mother's overanxiety. The majority of parents (80%) assumed they knew about the principles of the test, with little change once the test was over. Those whose child had previously been submitted to the test were less apprehensive. When the test was first initiated, 81% of parents feared it would cause some discomfort, either due to pain (69%), or to poor acceptance at home (25%) with the risk of having the catheter accidently removed. Once the catheter had been positioned with the parents close to the child at that time, its presence was judged by them tolerable in 88.9% of cases. Once at home, 84.8% of the parents were not worried, as the child was calm (83.8%) and also due to the possibility for them to get in touch with the physician if necessary (86.9%). No change in routine daily life was reported by 80.8% of the families; in only 19.2% was the child reported to be overwhelmed with the test. When asked if the test should be undertaken another time, 91.9% would still prefer it as a home procedure, the only families requesting it be done in hospital being those with a history of sudden death syndrome. CONCLUSION: pHmetry test as a 24-hour procedure done at home may be the source of some discomfort and anxiety both to the child and parents; yet it appears to be generally well-accepted, both for its non-aggressive and diagnostic value.

[Small intestine ulcers 12 years after ileosigmoid anastomosis for neonatal necrotizing enterocolitis]. / Ulcérations du grêle 12 ans après une anastomose iléosigmoïdienne pour entérocolite ulcéronécrosante néonatale.

BACKGROUND: Ileal ulcers can be seen several years after surgery for neonatal necrotizing enterocolitis. They may be due to chronic bacterial colonisation of the intestine. CASE REPORT: A 12 year-old boy admitted suffering from chronic severe anemia (hemoglobin 6.5 g/dl), hypochromic and microcytic. Digestive bleeding was negative and the patient was successfully given iron for 6 months. Anemia was found again several months after cessation of treatment. Rectosigmoidoscopy showed several ulcers with inflammatory mucosa, near anastomosis secondary to an extensive bowel resection due to necrotizing enterocolitis. Ulcers of the distal small bowel persisted despite mesalazine and iron therapy and required resection of the intestine on both sides of the anastomosis. A few months later, recurrence of both ulcers and anemia led to the search for bacterial overgrowth which was confirmed by breath hydrogen testing. The patient was then given metronidazole plus amoxicillin by alternate courses and is well one year later. CONCLUSIONS: Chronic bacterial colonization can be responsible for ileal ulcers several years after intestinal resection, requiring a prolonged controlled follow-up.

[Kasabach-Merritt syndrome with pancreatic hemangioma in an infant]. / Syndrome de Kasabach-Merritt avec hémangiome pancréatique chez un nourrisson.

BACKGROUND: Kasabach-Merritt syndrome is characterized by one or more large hemangiomas associated with thrombocytopenia due to platelet trapping. The hemangiomas may be located in the abdominal viscera, in which case, treatment may be difficult. CASE REPORT: A 2 1/2 month-old boy was admitted because of the discovery of an abdominal mass. He was anemic (hemoglobin: 6.8 g%; reticulocytosis: 288,000/mm3), thrombocytopenic (50,000/mm3), hypofibrinogenemic (0.95 g/l), with fibrin split products in the blood. Ultrasonography showed that this mass was retroperitoneal and heterogeneous. X-rays delineated the mass, which distorted the duodenal loop and pressed forward against the stomach. Surgery showed that the mass included the pancreas, the root of mesenterium and the extrahepatic bile duct. This mass was biopsied. Histological examination showed infantile type hemangioendothelioma. Abdominal angiography showed that the mass was not very hypervascularized, and there were no dilated supplying blood vessels. An aortogram showed two other small vascularized areas. The patient was given methylprednisolone, but the volume of the mass remained unchanged, while hepatosplenomegaly and jaundice developed and ultrasound showed dilated extra- and intrahepatic biliary ducts. The patient was then given interferon alpha 2b for 1 month. Embolization of the small supplying arteries was performed because of a lack of improvement after 1 week of treatment. This procedure was followed by rapid disappearance of the signs of consumption coagulopathy, a progressive improvement in cholestasis, and decrease in the mass. CONCLUSION: Improvement in manifestations of this Kasabach-Merritt syndrome is difficult to assign to one of the several therapies. The rapid disappearance of consumption coagulopathy after arterial embolization suggests that this treatment was successful in our patient.

[Lower intestinal obstruction caused by a lactobezoar]. / Occlusion intestinale basse par lactobezoard.

Two case of the so-called "milk curd obstruction" syndrome are reported. Although seldom found elsewhere than in the stomach, more distal obstruction in the ileum or the transverse colon by milk curd aggregates may mimic more classical causes of obstruction if one is not aware of the possibility of such incident related to feeding. Appropriate interviewing of the mother about regimen and medications will be of great help, in investigating the cause of the abdominal disorder, obviating the need for surgical intervention if confirmed by radiopaque enema.

[Acquired polydipsia in infants]. / Polydipsie d'entraînement chez un nourrisson.

The authors report a case of acquired polydipsia in an infant. The case was unusual in its presentation, its late onset (without anorexia, nor vomiting), and the normal salt-water balance contrarily to what is observed in water intoxication. The course was favourable after progressive conditioning.

Rotavirus carriage, asymptomatic infection, and disease in the first two years of life. I. Virus shedding.

From September 1979 to July 1980 inclusive, rotaviruses were prospectively detected by electron microscopy (EM) and ELISA in 82 (29%) of 283 children under two years of age who were admitted to a general pediatric ward in Paris. Rotavirus was found in 43 (36%) of 119 children with diarrhea and in 40 (24%) of 164 children without diarrhea; thus of 83 children shedding rotavirus, 40 (48%) were not diarrheic. Virus shedding that was not associated with diarrhea was observed in 71% of neonates, in 50% of one- to six-month-old children, and in 26% of 7-24-month-old children. Rotavirus shedding was statistically correlated (P less than .01) only with those cases of diarrhea with fever and vomiting ( DFV syndrome). Consequently, relative risk (RR) for the DFV syndrome in patients who were shedding virus was 2.07 (P less than .001) vs. 0.95 for other types of diarrhea. These observations show that asymptomatic rotaviral infection is not an infrequent occurrence; that the association between rotavirus and diarrhea is not necessarily an etiologic one; and that the DFV syndrome appears as a major clinical expression of rotaviral disease. Consequently, recovery of rotavirus from feces is of little diagnostic significance since it does not give a differentiation between rotavirus-induced and rotavirus-associated diarrhea.

Rotavirus carriage, asymptomatic infection, and disease in the first two years of life. II. Serological response.

Serological response to rotavirus and virus shedding were prospectively studied in 179 children (neonatal to 24-month-old) upon admission to a hospital during an 11-month period. Analysis of the evolution of IgG and IgM ELISA titers revealed 24 cases of rotaviral disease (serological response and diarrhea), 13 cases of asymptomatic infection (serological response and no diarrhea), 36 cases of virus carriage (absence of a serological response), three cases of past infection, and six possible cases of nosocomial infection. Rotaviral disease was encountered two out of three times and was characterized by diarrhea associated with fever and vomiting. Asymptomatic rotaviral infection and disease, observed from the neonatal period onwards, affected 2% of neonates, 20% of one- to six-month-old children, and 37% of 7-24-month-old children. In contrast, virus carriage occurred in 27%, 19%, and 14% of those children respectively. Altogether these results indicate that during the period 1-24 months of age, when asymptomatic rotaviral infection and disease were prevalent, approximately two of 10 children had rotaviral disease, one of 10 had asymptomatic infection, two of 10 were virus carriers, and five of 10 were not infected with rotavirus.

[Purulent pleurisy, esophagopleural fistula and presence of Torulopsis glabrata in the pleura]. / Pleurésie purulente, fistule oesopleurale et présence dans la plèvre de Torulopsis glabrata.

The authors report the simultaneous discovery of a septic pleural effusion and an esophagopleural fistula in a 4 year-old patient. The yeast Torulopsis glabrata found in the pleural effusion does not seem to behave as a pathogen but more likely as a witness of a fistula between the gastrointestinal tract and the pleura.

[Mediastinal emphysema in diabetic ketoacidosis. 2 cases]. / Emphysème médiastinal au cours d'une acido-cétose diabétique. Deux observations.

The authors report 2 cases of spontaneous pneumomediastinum observed in 2 male children aged 11 and 9 years respectively, during a bout of diabetic ketoacidosis. This association is probably not uncommon. The course of the pneumomediastinum is usually rapidly favorable. Its pathogenesis is discussed.

[Nephrotic syndrome, antithrombin III deficiency and recurrent thrombosis. The value of vitamin K antagonists]. / Syndrome néphrotique, déficit en antithrombine III et thromboses à répétition. Intérêt des antagonistes de la vitamine K.

In a 7 year-old girl presenting with nephrotic syndrome and repeated episodes of thrombosis, a decrease in antithrombin III and in vitro inactivity of heparin were observed. Treatment by vitamin K antagonists prevented further thromboembolic episodes.