Multiple critical smallest region of overlap in monosomy 16Q syndrome?

A 18 months old female child with a de novo 16q deletion is described. The clinical findings in this patient are similar to the phenotype first described by Fryns et al. (11) in 16q deletion. The present deletion involves the region 16q11.2-q12.2 suggesting a second critical smallest region of overlap (S.R.O.) more proximal to the centromere than the one previously located in 16q21.

[Fetal torsades de pointe and the long QT syndrome]. / Torsades de pointe foetales et syndrome du QT long.

The authors report a case of pregnancy interrupted by caesarian section at 38 weeks' gestation for attacks of fetal ventricular tachycardia. The recording of a long QT interval at birth indicated a diagnosis of fetal torsades de pointe. These attacks recurred 2 hours after birth leading to cardiac arrest. The arrhythmia was immediately controlled by betablockers therapy. The diagnostic, epidemiological and physiopathological features of the long QT syndrome are reviewed. The links with maturation of the sympathetic nervous system are recalled. Finally, a diagnostic and therapeutic strategy is proposed, based on the results of fetal echocardiography.

[Incidence of symptomatic celiac disease in French children]. / Incidence de la maladie coeliaque symptomatique de l'enfant en France.

OBJECTIVE: The study was carried out by the GFHGNP to determine the annual incidence of symptomatic celiac disease in children. PATIENTS AND METHODS: The diagnostic criteria were: symptomatic patients diagnosed under 15 years of age during 1996, villous atrophy and positivity of antigliadin and/or other antibodies. Cases were collected from referral centers, general hospital pediatric departments and private pediatricians with endoscopic practice. RESULTS: The study involved roughly half of the French pediatric population in 41 out of the 95 French districts. In all, 124 patients were collected: 76 girls and 48 boys. By geographical areas, in 30 districts where collection of data was complete which counted 186,285 births, the yearly incidence varied from 1/1731 births to 1/3110. (0.57@1000 to 0.32@1000). On the whole there were 77 cases i.e. an annual incidence of 1/2419 or 0.41@1000 (confidence interval 95%: 0.32 to 0.50@1000). Lower incidences were observed in the district of Paris: 1/4865 (0.21@1000) and Lyon: 1/3310 (0.27@1000). Those lower incidences could be explained by the difficulties of collecting the data in the biggest urban areas. The first signs occurred before one year of age in 73% of the cases, during the second year of life in 20.5% and after 3 in only 6.5%. The diagnosis was made before 2 years of age in 77% of the cases and after 3 in only 13%. In order of frequency symptoms were: failure to thrive (80%), diarrhea (59%), anorexia (59%), abdominal distension (57%), weight under 2 standard deviations (43%), short stature (43%). CONCLUSION: Compared with previous studies in two French districts between 1975 and 1990, the annual incidence of symptomatic celiac disease in children appears to be on the rise. The usual clinical signs continue to be observed.

Evaluation of a casein and a whey hydrolysate for treatment of cow's-milk-sensitive enteropathy.

A casein and a whey hydrolysate were evaluated in the management of 18 children with cow's-milk-sensitive enteropathy. This diagnosis was based upon clinical features, an abnormal small intestinal mucosa, i.e. an enteropathy, and a clinical response to cow's milk elimination. Two infants refused to take the whey hydrolysate. The median weight gain was higher in children given whey hydrolysate (19.4 g/day) than the casein hydrolysate (9.8 g/day). All children responded to cow's milk elimination and most had a significant improvement in small intestinal morphology after a cow's-milk-free diet. There was some advantage for the whey hydrolysate on morphometric analysis of their small intestinal mucosal response.

Effects of brief early exposure to partially hydrolyzed and whole cow milk proteins.

Clinical experience ("the dangerous bottle") and experimental evidence indicate that the early life of an infant is particularly important for the development of the immune responses to food antigens. However, the clinical and immunologic consequences of a brief exposure to, or avoidance of, food antigens during the neonatal period in human infants are poorly understood and documented. We present the preliminary results of a prospective controlled study of 256 normal breast-fed infants randomly assigned to receive (blind) either an adapted formula (Nidina) or a partially hydrolyzed formula (Nidal HA) as a supplement to breast-feeding for a few days when necessary, and to be examined at days 5, 90, 150, and 365. The results indicated that (1) the prevalence of clinical symptoms and of total and specific IgE responses was not statistically different in the two groups of infants and (2) infants fed a hydrolyzed formula had median titers of specific IgG lower than those fed an adapted formula; the difference was significant for alpha-lactalbumin at day 90 (p < 0.005) and for alpha-lactalbumin (p < 0.05), casein (p < 0.05), and hydrolyzed formula (p < 0.01) at day 150. Humoral immune responses of breast-fed infants to food antigens thus appear to be modulated by early, short-term exposure to them.

[Cerebellar ataxia preceding cutaneous symptoms in chickenpox]. / Ataxie cérébelleuse précédant les signes cutanés au cours d'une varicelle.

The authors describe a case of cerebellar ataxia developing 8 days before the exanthema of varicella. Evolution was quickly favorable. On the occasion of this rare observation, the pathophysiology of the neurological complications of varicella are discussed.

[Acute psychiatric syndrome and quinolones]. / Syndrome psychiatrique aigu et quinolones.

A case of Flumequine poisoning is described; a 13-year-old girl was admitted for a psychiatric syndrome. 3 hours after, seizures, coma, and metabolic disorders were observed. Infectious, encephalitic or diabetic diseases were suspected, but not confirmed. After 12 hours of a symptomatic treatment, the clinical status improved and the patient was discharged. At that time a tablet was found in her bedroom and a mas spectrographic analysis was positive for Flumequine. This case report is in agreement with previous observations and confirms the small therapeutic index of quinolone, and the absolute necessity to assess carefully a psychiatric diagnosis.