Helvetica paediatrica acta最新文献

An infant with multiple deformations born to a mother with untreated myasthenia gravis presented with arthrogryposis multiplex, craniofacial dysmorphism, kyphoscoliosis of the thoraco-lumbar spine, severe hypotonia, absence of the sucking reflex, and other neurological deficits. The neurological state of the infant supported the diagnosis of congenital myasthenia gravis, but the negative Tensilon test and the lack of clinical improvement after prolonged Mestinon treatment ruled out this diagnosis. We believe that the multiple deformations and reduced fetal movements are related to the maternal myasthenic environment associated with mild polyhydramnion.

Among a series of 512 boys with an empty scrotum, 495 (96.7%) were found to have cryptorchidism, 4 had ectopia and 13 unilateral anorchia. Cryptorchidism was bilateral in 106 boys (21.4%). The only anomaly consistently associated with cryptorchidism was a detached epididymis, present in 31 patients. A total of 670 biopsies were studied, 441 of which came from cryptorchid and 229 from scrotal testes. Spermatogonial counts, performed according to Mancini's method, showed the germ cell population to be diminished in nearly all cryptorchid testes. The seven boys who still had a well preserved germ cell population were found in a group of 51 patients operated before age three; four of the seven boys with normal counts were below age one. No difference in the mean spermatogonial counts was found between uni- und bilateral cryptorchidism and ectopia, with the exception of bilaterally intraabdominal testes whose spermatogonial cell loss was particularly severe. Mean counts remained constant during childhood, no gradual increase with age having been observed. The scrotal testes in unilateral cryptorchidism showed cell loss in 30.1% of the cases, the germ cell depletion being severe in one out of every six cases. In the remaining scrotal testes, the counts were in the low normal range with a significantly lower mean than that found in scrotal testes associated with anorchia. Control biopsies were performed several months or years after orchidopexy in 18 boys with unilateral and in 24 boys with bilateral cryptorchidism. Orchidopexy does not improve the number of germ cells in either originally cryptorchid or in scrotal testes, the only postoperative change being an increase in tubular diameter. A search for malignant tumours which could have developed in this series has remained negative. According to our data, no optimal time for orchidopexy can be proposed. The damage to germ cells, once established, seems to remain unchanged during childhood at least after age three, and does not warrant special timing for operative correction of cryptorchidism.

Insulin specific receptors on red blood cells and cultured fibroblasts were investigated in a male infant affected of congenital generalized lipodystrophy (CGL). Total insulin binding capacity appeared mildly reduced, with apparently selective involvement of the high-affinity receptors on red blood cells but not on fibroblasts. Such alterations did not produce any impairment of glucose metabolism.

201 children with inhalant allergy were examined with a new serological screening test ("Multi-Allergen-Test"). The sensitivity (95.1%) and specificity (91.9%) of the test were determined by comparing it to a "clinical classification", including results of history, physical examination, skin test and investigation for specific IgE antibodies. This yielded a diagnostic efficiency of 93.5%. A subsequent comparison of these results with the classification of patients by age-related total IgE levels showed the superiority of the "Multi-Allergen-Test" as far as screening for inhalant allergies is concerned. Additionally, the results for the specificity of the test were reproduced by examining another 18 children with food allergy, who had elevated total IgE levels but no inhalant allergic symptoms. The "Multi-Allergen-Test" proved to be a suitable screening procedure for inhalant allergy.

The possible aetiological factors were studied in 73 children with idiopathic growth hormone deficiency. The following perinatal abnormalities were found to be more frequent than expected: breech presentation (32.9%) and asphyxia (15.0%). Parallel with an increased application of caesarean section there was a significant reduction in the incidence of breech birth among the hypopituitary patients. On the basis of TSH levels measured during TRH tests, most of the patients with breech delivery had a hypothalamic damage, while at vertex position the pituitary damage was more frequent. Of the two pairs of siblings with hypopituitarism both members of the first had breech birth and of the second high birth weight. It is concluded that perinatal abnormalities are important aetiological factors in hypopituitarism and that the occurrence of this disease can be reduced with improved obstetrical practice and perinatal care.

A newborn infant with Proteus mirabilis meningitis developed multiple brain abscesses with diameters ranging from 2 to 4 cm. Intravenous antibiotic therapy alone without surgical intervention led to the complete resolution of this complication. The case supports that this may be an acceptable treatment of multiple brain abscesses in neonates. However, the clinical outcome was relatively poor, since a porencephalic cyst, hypodense areas in CT scan, and psychomotor retardation were found at one year of age.

Two infants developed hyperkalemia shortly after cessation of prolonged ACTH therapy for infantile spasms. We wish to call for cautious approach at time of cessation of prolonged ACTH therapy because of possible unexpected and only partially understood hazardous side effects such as hyperkalemia.

The authors examine 18 cases of early dystonic syndromes and review all the pediatric cases published previously in order to determine the evolutive and epidemiological characters of these intolerance reactions. These unrecognized manifestations normally occur within the first 24 hours of treatment and disappear within a few hours when the treatment is discontinued. The use of diazepam and trihexyphenidyl accelerates the regression of the disorders. The doses of metoclopramide were mostly above the recommended doses, 60% of the cases correspond to doses in excess of 0.5 mg/kg per day or 0.2 mg/kg in a single dose. In the absence of overdosage, dystonic reactions occur essentially in female subjects aged over 9 years. For this part of the population, the possible occurrence of such a reaction should be mentioned to the family when the drug is prescribed.

We report on a newborn with severe congestive heart failure where echocardiography was leading to the correct diagnosis and the treatment. Endocarditis in the newborn is a rare disease, and the diagnosis is possible from the echocardiographic demonstration of vegetations. It is therefore important to search for vegetations in the very ill newborn with cardiac symptoms, in order to start early antibiotic treatment independently of positive cultures and to avoid the usual fatal outcome of this disease.

Of 99 patients with acute lymphoblastic leukemia in first bone marrow or isolated CNS relapse seen between 1968 and 1980, 48 were treated without standardized protocol and 51 according to a relapse protocol. Of 16 patients with bone marrow relapse after cessation of the initial treatment 6 survived 8 1/2 years or more, of 66 with bone marrow relapse while on therapy only 4 survived. All of the latter were low risk patients with an initial WBC of less than 20 x 10(9)/l and no enlargement of the mediastinum. All of the 17 patients with isolated CNS relapse died. The relapse protocols used probably improved the chances of children with first bone marrow but not of those with isolated CNS relapse.