Aggregatibacter actinomycetemcomitans infection in children: two case reports and a review of the literature.

Aggregatibacter actinomycetemcomitans (Aa), a Gram-negative coccobacillus commonly associated with endocarditis, poses a rare diagnostic challenge in pediatric cases. The presentation of two pediatric cases-myositis and chest mass-highlights novel aspects, including unusual symptom presentations in children which can be mistaken for malignancy. The limited sensitivity of standard blood tests complicates diagnosis, leading to delayed diagnosis and treatment. Representative samples must be taken, especially if blood cultures are negative. Despite advances in detection methods, diagnosing Aa infection remains difficult due to its rarity in children and variable clinical presentation. In conclusion, a comprehensive understanding of Aa infection in children is essential for early and effective diagnostic and therapeutic management.

[Pneumonia due to adenovirus type 7: a case report in a healthy infant]. / Pneumopathie hypoxémiante à adénovirus de type 7 chez un nourrisson sans déficit immunitaire.

A 15-month-old boy treated with amoxicillin and clavulanic acid therapy for 8 days was admitted for persistent gastroenteritis and fever. He received ceftriaxone for pneumonia modified on day 4 for cefotaxime and josamycin due to extension of alveolar lesions. On day 7, persistent fever and worsened respiratory distress led to addition of rifampicin. The child was then admitted to an intensive care unit. A hemophagocytic syndrome was suspected based on clinical signs and laboratory findings and confirmed by cytological examination of bone marrow. Adenovirus type 7 was identified by polymerase chain reaction and culture of bronchoalveolar fluid. Prognosis was good within 3 weeks. B and T immunologic evaluations were normal 5 months after the infection. This case of severe adenovirus pneumonia was associated with hemophagocytic syndrome in a child without identified primary immunodeficiency. Adenovirus type 3 and 7 are most frequently responsible for severe or fatal respiratory infections.

[Pneumococcal infection among community-acquired pneumonia. A retrospective study of 230 hospitalized children]. / Pneumonies aiguës communautaires: place des pneumonies à pneumocoque. Enquête rétrospective dans un service de pédiatrie d'Ile-de-France.

OBJECTIVES: To find arguments in favour of pneumococcal origin in community-acquired pneumonia. POPULATION AND METHODS: A retrospective analysis of the files of 230 children hospitalized between January 1st 1999 and June 30th 2001 for community acquired pneumonia was performed. The files were classified into 3 subgroups: I (N=7), confirmed (positive blood culture); II (N=134), probable (biological arguments); III (N=89), possible pneumococcal infection. Age of the children was also taken into consideration. RESULTS: All children in the subgroup I had fever>39 degrees C at admission and at least 1 of the 3 criteria (WBC> or=20.10(9)/l, neutrophils > or =10.10(9)/l, C-reactive protein level> or =60 mg/l). Dyspnea was more frequently asthmatiform in the subgroup III. Chest X-ray was not contributive. Before admission, 39% of the children were given one or several antibiotics, and so some of patients belonging to the subgroups II and III could have been infected by pneumococcus without possibility to confirm that. CONCLUSION: Results of this analysis suggest that some criteria may be useful for selecting initial antibiotherapy even though systematic early specific antipneumococcal immunization should reduce the frequency of this infection.

[Telephone activity in outpatient pediatric practice]. / Activité téléphonique en pédiatrie ambulatoire.

OBJECTIVES: To assess the amount of telephone activity in outpatient pediatric practice. METHODS: Seventy-nine pediatricians belonging to a continuing medical education group (Arepege) prospectively recorded data about all the telephone calls they took personally for 3 days, from 4 to 6 December 2000. They noted the number of calls each day and their duration, the caller, the reason for and the response to each call. RESULTS: In 3 days, the 79 pediatricians received 4413 calls, for a mean of 19 calls daily for each practitioner. The calls were brief, 86% of them lasting less than 2 min; each pediatrician spent an average of 26 min a day on the telephone; most calls (82%) came from children's mothers. The reasons for the calls were: request for appointment (1035 calls, 23.5%), request for advice not associated with an acute disease (1416 calls, 32%), the onset of acute symptoms (1961 calls, 44.5%). An appointment was made in 26% of the cases for which the reason for the call was illness. CONCLUSION: Pediatric private practice involves substantial telephone activity, which generates no healthcare costs, but does present risks that might be attenuated by the use of appropriate algorithms for conducting these telephone interviews.

A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.

A North African boy, the son of consanguineous parents, presented at 8 years of age with hypophosphataemic rickets due to De Toni-Debré-Fanconi syndrome. Hepatomegaly and abnormalities of carbohydrate metabolism were suggestive of Fanconi-Bickel syndrome. This was confirmed by the detection of a mutation within GLUT2, the gene encoding the liver-type facilitative glucose transporter. The study of the respiratory chain revealed a deficiency of complexes I, III and IV in muscle. Mechanisms responsible for an impairment ofmitochondrial function, which we interpret as a secondary phenomenon, are discussed.

Long-chain 3-hydroxyacylCoA dehydrogenase deficiency: a new case presenting with liver dysfunction, cholestasis and fibrosis.

UNLABELLED: A cholestatic 6-mo-old girl was admitted to our department because she recently presented with hypotonia and lethargy, apparently due to moderate and transient hypoglycaemia. Her urine contained 3-hydroxy-dicarboxylic acids of 12 to 14 carbons in length and her plasma acylcarnitine profile was consistent with long-chain 3-hydroxyacylCoA dehydrogenase deficiency. This diagnosis was confirmed by enzyme studies. This deficiency was due to a G1528C mutation on the paternal allele (mutation on the maternal allele as yet not identified). The patient improved dramatically with medium-chain triglyceride supplementation. CONCLUSION: Early cholestasis and hepatic fibrosis must lead to search for long-chain 3-hydroxyacylCoA dehydrogenase deficiency, particularly when hypoketotic hypoglycaemia is present.

[Staphylococcal toxic syndrome, atypical presentation of Kawasaki syndrome or staphylococcal skin syndrome?]. / Syndrome toxinique staphylococcique, forme atypique de syndrome de Kawasaki ou scarlatine staphylococcique?

CASE REPORT: A three-year-old girl was admitted for persistent fever, erythermatous rash with subsequent desquamation, stomatitis, cheleitis and cervical lymphadenopathy following development of a buttock abscess secondary to an insect bite. A TSS-positive Staphylococcus aureus strain was isolated from the abscess. COMMENTS: Both clinical and bacteriological features led to discuss a "toxic shock syndrome without shock", an atypical form of Kawasaki syndrome without thrombocytosis and coronary arteritis or a staphylococcal skin syndrome. An early treatment with antibiotics could have limited the toxin production explaining both symptomatology and favourable course of the disease.

Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia.

Bromocriptine combined with galactose restriction in the matenal diet seems to be partially effective in decreasing endogenous lactose and galactose synthesis, monitored in a pregnant woman heterozygous for galactosaemia at risk of producing a homozygous infant.

Methylprednisolone, an alternative to dexamethasone in very premature infants at risk of chronic lung disease.

OBJECTIVE: To evaluate the benefits and the medium-term side effects of methylprednisolone in very preterm infants at risk of chronic lung disease. STUDY DESIGN: Forty-five consecutive preterm infants (< 30 weeks' gestation) at risk of chronic lung disease were treated at a mean postnatal age of 16 days with a tapering course of methylprednisolone. The outcome of treatment was assessed by comparison with 45 consecutive historical cases of infants treated with dexamethasone; the infants did not differ in baseline characteristics. RESULTS: There were no differences between groups in the rate of survivors without chronic lung disease. Infants treated with methylprednisolone had a higher rate of body weight gain during the treatment period (median 120 g, range 0 to 190, vs. 70 g, range -110 to 210, P = 0.01) and between birth and the age of 40 weeks (median 1660 g, range 1170-2520, vs. 1580 g, range 1,040 to 2,120, P = 0.02). The incidence of both glucose intolerance requiring insulin (0 % vs. 18 %, P = 0.006) and cystic periventricular leukomalacia (2 % vs. 18%, P = 0.03) was lower among methylprednisolone-treated infants. CONCLUSION: Our observations confirm methylprednisolone to be as effective as dexamethasone and to have fewer side effects. A randomized control trial is needed to further study the efficacy and safety of methylprednisolone in very premature infants at risk of chronic lung disease.

Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.

Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X).