Annales de pediatrie最新文献

A 14 year old patient had both Moebius anomalad with arthrogryposis and growth hormone deficiency due to a midline defect. This combination suggests an abnormality in the organization of the neural crest and homologous neural tube segment.

Six patients aged 3 to 14 years with lower limb vein thrombosis were included in a prospective study of deficiencies in physiological coagulation inhibitors. The laboratory evaluation included standard hemostasis tests, tests for circulating anticoagulants, immunological and functional assays of protein C, protein S, and antithrombin III, and a study of fibrinolysis. A qualitative protein S deficiency with decreased fibrinolysis and protein C deficiency were found. The family study detected asymptomatic heterozygotes in both families investigated. No antithrombin III deficiency or circulating anticoagulants were found.

From October 1991 through April 1992, 16 infants aged 5 to 25 months (mean age 14.3 months) underwent bronchoscopy with a flexible fiberoptic bronchoscope, under local anesthesia. The technique is described in detail. Reasons for bronchoscopy included recurrent or persistent pneumonia (n = 4), persistent atelectasia (n = 4), lymphadenopathy and/or airway compression (n = 2), suspected foreign body (n = 2), bronchoalveolar lavage to investigate diffuse interstitial lung disease (n = 2), and severe recurrent wheezing (n = 2). The procedure established the accurate diagnosis in 14 cases. Adverse events (32%) were minor (transient hypoxia, n = 3; moderate fever, n = 1; and laryngospasm, n = 1) and resolved completely. Flexible fiberoptic bronchoscopy under local anesthesia is a simple procedure which is safe in patients under 30 months of age when performed by a experienced operator in an adequate facility. This method is useful for the diagnosis and/or treatment of a broad spectrum of conditions.

The case of a ten month old female with initial clinical and histological findings suggestive of inappropriate macrophage activation syndrome is reported. Subsequently, clinical and pathological changes refuted this diagnosis and demonstrated that the patient had Langherans cell histiocytosis. Clinical, laboratory and pathological findings characteristic of each type of histiocytosis are reviewed. Histological and immunohistochemical studies allow to establish the diagnosis of Langherans cell histiocytosis. The finding of erythrophagocytosis in our patient suggests that two types of histiocyte proliferation can coexist in the same individual.

Sixteen cases of pediatric hyperthyroidism treated by antithyroid drugs are reported. First-line treatment with carbimazole in a mean dose of 19 mg/m2 initially and 7 mg/m2 after one year ensured control of the disease within 6 weeks. Mean follow-up was 4 years. Only two children were able to discontinue the drug, after 9.1 years and 4.6 years. Two other patients had thyroidectomy, after 6.7 years and 3.4 years. The main disadvantages of antithyroid drugs are the need for prolonged treatment and the risk of recurrence. An attempt at treatment discontinuation is warranted in patients with good disease control of 2 to 3 years duration, goiter size reduction, improved exophthalmos, and decreased anti-TSH receptor antibodies.

Forty-three children with malignant diseases who received 48 totally implanted venous accesses (TIVA) were retrospectively analyzed. More than half the patients had acute leukemia. Mean age was 6 years 10 months. Mean duration of use of the TIVA was 473 +/- 50 days (range 28 to 1,285 da; median 424 days). Removal of the TIVA was required because of an adverse event in 33% of cases. Main reasons for removal included infection (22.9%), thrombosis (6.25%), and catheter dysfunction (4.16%). Catheter-related infections were most often due to staphylococci (90%), especially S. epidermidis (63%). Infection rate was 0.48 per 1,000 patient-days. Flushing with a vancomycin-heparin solution can be expected to decrease this rate. Selection of the implantation site is discussed. In children under 6 years of age, the cephalic vein and external jugular vein are often frail or absent and are therefore less appropriate than the internal jugular vein or subclavian vein.

Three pediatric patients with multiple geodes in the fingers are reported. This condition occurs mainly between one and three years and at seven years of age and is more common in winter. Affected fingers are swollen. Roentgenograms disclose several small lucent defects which are usually located in the middle phalanx. Several fingers are usually involved. The erythrocyte sedimentation rate is increased in virtually every case. Resolution occurs spontaneously within a few weeks or months. There is no tendency towards recurrence. Although the condition is inflammatory, exposure to cold is probably a precipitating factor.

Striated osteopathy, a roentgenological entity characterized by longitudinal striations, can occur concomitantly with a number of disorders which should be routinely looked for. There are three types of striated osteopathy. The pure form without severe bone disorders is the form originally reported by Voorhoeve. In the second form, there is a concomitant fibrous dysplasia, such as Jaffe-Lichtenstein-Uehlinger disease, Ollier enchondromatosis, sponastrism dysplasia, or osteopetrosis. This group also includes bone dysplasias with sclerosis such as melorheostosis, osteopecilia, and sclerosis of the base of the skull which is sometimes seen in patients with striated osteopathy. In the third form, striated osteopathy occurs concomitantly with a skin disease such as patchy dermal hypoplasia or hyperpigmented skin lesions.

The case of a seven-year-old with multifocal (type II) Langheran's cell histiocytosis since the age of two years is reported. Despite therapy, biliary cirrhosis with portal hypertension developed gradually. Histologic studies of liver biopsy specimens, computed tomography, and transhepatic cholangiography disclosed dilatation of the bile ducts, suggesting sclerosing cholangitis, a specific complication of Langherans' cell histiocytosis which precipitates the development of biliary cirrhosis.

Fecal fat output was measured over three days in ten infants aged 28 to 115 days fed an infant formula (SMA Comfort, Sodilac) containing 39.2% unsaturated fatty acids and 20.1% medium-chain triglycerides (C8, C10, and C12). Fat intake ranged from 59.32 to 136.80 g. Mean fat absorption coefficient was 96 +/- 2%. SMA Comfort offers a fat absorption coefficient comparable to that seen with breast milk.