Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.

Beta-mannosidosis is a recently described inherited disorder with predominantly neurological signs and symptoms as the major manifestations of the disorder. The heterogeneous manifestations of the disease have been presented in seven previous patients. We describe a further case of European descent with an infantile onset of the disease, with the features of speech impairment as the first symptom. Beta-mannosidase activity was completely deficient in the patient and a heterozygote level was found in the parents. In addition, mannosyl-N-acetylglucosamine was identified in the patient's urine in keeping with the diagnosis of beta-mannosidosis.

[Acute stress ulcer in an abusing family]. / Ulcère aigu de stress dans une famille maltraitante.

The authors report one case of a 3 1/2 year-old battered boy, with acute giant stress ulcer on the lesser curvature of the stomach. Hematemesis was the presenting symptom. Diagnosis was established after fiberoptic endoscopy and upper G.I. radiological study. After a 3 weeks cimetidine treatment and psycho-affective nursing, the ulcer disappeared almost completely. To our knowledge, a stress ulcer occurring in a battered child has not been reported as yet.

[The pediatric team in the presence of physical cruelty to and severe affective deprivation of children]. / L'équipe pédiatrique devant le sévice corporel et la carence affective grave chez l'enfant.

From a study of 50 cases the authors suggest a more suitable approach for paediatricians to the problems of battered babies and children with severe emotional deprivation. A multidisciplinary team is recommended in which everyone is involved and not just specialised personel. The study shows the frequency of emotional deprivation of children in care and the possibility offered by adoption. Local psychiatric support is often needed for parents who do not ask for help. The need to make long term arrangements during hospital admission requires an interdisciplinary team with close links between the paediatric team and other child welfare services.

An unusual case of leukemia with high fetal hemoglobin: demonstration of abnormal hemoglobin synthesis localized in a red cell clone.

A high level of fetal hemoglobin was found in an 8-yr-old boy without any hematologic disorders except for a moderate anemia. The absence of hemoglobin abnormalities in the parents led us to suspect a latent malignant disease that, on follow-up, was confirmed to be myelomonocytic leukemia. Hemoglobin biosynthetic studies provided evidence of unbalanced synthesis of globin subunits by reticulocytes, while the production of non-alpha chains was equal to that of alpha chains in bone marrow cells. The expression of red cell antigen i was increased, while those of I, A, and A1 antigens were found to decrease progressively. Two populations of erythrocytes, A-positive and A-negative, were distinguished and could be separated by differential agglutination. Unbalanced globin chain synthesis, increased fetal hemoglobin, and antigenic changes of the membrane were shown to be restricted to the A-negative population. The biologic data were not entirely consistent with a genuine reversion to fetal erythropoiesis. The question remains of a polychromosomal lesion of either quiescent F cells or adult stem cells.

The use of critical levels of birth weight and "free bilirubin" as an approach for prevention of kernicterus.

Free bilirubin (FB) and total bilirubin (TB) were determined in 154 samples of blood taken from 112 jaundiced newborns: 51 prematures without hemolysis (19 of these with RDS); 26 full terms presenting ABO incompatibility; 35 newborns (both prematures and full terms) presenting rhesus incompatibility. Kernicterus was observed in seven cases and only three occurred in the TB group above 20 mg/100 ml; 57 cases had FB equal to or above 0.1 mg/100 ml and all kernicterus fell into this category. In the other 55 cases in which FB was less than 0.1 mg/100 ml no kernicterus was observed. In the group of healthy full-term newborns presenting ABO incompatibility, 15 had FB above or equal to 0.1 mg/100 ml ranging between 0.1 and 0.4 mg/100 ml; however no kernicterus was observed during the neonatal period. On the contrary, in the group of prematures a little more than half of the cases had a FB ranging from 0.1 to 0.4 mg/100 ml whereas four macroscopic kernicterus cases were observed. The difference between the two groups compels us to consider other factors than those acting on the albumin-bilirubin binding especially those acting on the blood-brain barrier and on the fixation of the pigment by the neurons. A second series of 605 consecutive autopsies, on a period of 10 years, on prematures excluding light-for-dates and cases of hemolysis, evaluates the distribution of 40 kernicterus as a function of birth weight. On this second series kernicterus appears with maximal frequency for birth weight between 1,000 and 1,250 g, with a nonnegligible frequency at 1,500 to 2,000 g and was absent between 2,000 and 2,500 g. 13 kernicterus were observed for a peak TB below 12 mg/100 ml. These results seem to justify a systematic determination of FB in the premature weighing less than 2,000 g from the 24th hour of life whether he has jaundice or not.