[Mucolipidoses type II. Case report]. / Mucolipidosis tipo II: comunicación de un caso.

We report a female newborn with type II mucolipidoses. This condition is characterized clinically by Hurler like features, progressive psychomotor retardation and death during the first or second year of life. Most cases present during the first year of life, with poor weight gain and coarse facies features. The cause of this rare autosomal recessive hereditary disease is the deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase, required for the synthesis of mannose-6-phosphate, the ligand that allows the transport of acid hydrolases into lysosomes. The patient had clinical features commonly found in mucolipidosis II, including disproportionate dwarfism, retarded psychomotor development, coarse facies features, gibbous and restricted joint mobility. The diagnosis was proved by an extremely elevated activity of lysosomal enzymes in the serum, secondary to non-regulated secretion and subsequent intracellular depletion of these proteins. The child suffered recurrent pneumonia and died at 22 months of age.

Sindrome de alcoholismo fetal y efectos del alcohol sobre el feto: importancia del diagnóstico precoz y del manejo nutricional / Fetal alcohol syndrome and fetal alcohol effects among children in a secondary nutritional recovery centre

Background: Fetal alcohol syndrome (FAS) and fetal alcohol effects (FAE) encompass a pattern of birth defects in persons whose mothers ingested alcohol during pregnancy. People with FAE display fewer of the FAS traits. Aim: To assess the prevalence and features of these affections in a secondary nutritional recovery centre. Patients and methods: All charts of children admitted between 1985 and 1995 were reviewed, and those children diagnosed as having a FAS or FAE by a geneticist were considered for this study. Birth, maternal, social and economic characteristics, psychomotor abilities (using Denver test) and response to nutritional treatment were assessed. Results: During the study period, 1572 infants were admitted to the centre, and 1.97 percent (70 percent female) were diagnosed as having a FAS or FAE. These infants were admitted at 11.1 ñ 4.5 months of age and discharged after 96.7 ñ 58.1 months of hospitalisation. Mean mother's age was 33 ñ 7 years, and all belonged to low socioeconomic levels. Mean birth weight was 2048 ñ 431 g and 2469 ñ 619 g in children with FAS and FAE respectively (p< 0.03). Children with FAE performed better for gross and fine motor abilities than those with FAS. No differences were observed for language performance. Sixty five percent of children with FAS and 71 percent of children with FAE had an adequate weight and height increment during nutritional therapy. A multiple regression analysis showed that age at admission and gestational age were significant predictors of weight gain during therapy. Conclusions: Alcohol has teratogenic effects on the foetus that affect craneal size and psychomotor development. Alcohol also affects pre and post natal growth