Combined hyperlipidaemia as a presenting sign of cholesteryl ester storage disease.

Lysosomal acid lipase (LAL) deficiency results in Wolman disease and cholesteryl ester storage disease (CESD), a more benign form. CESD is a recessive disorder characterized by hypercholesterolaemia, hypertriglyceridaemia, low blood HDL and variable phenotype, while hepatomegaly is usually evident during childhood or adolescence. An 11-year-old girl was referred to our department for combined hyperlipidaemia (total cholesterol 323, triglycerides 259 mg/dl). All family members had normal lipid profile and liver function tests. At 8 years she was admitted for acute Epstein-Barr virus infection, with hepatosplenomegaly and elevation of liver enzymes. Liver-spleen enlargement resolved, but serum alanine aminotransferase and aspartate aminotransferase were persistently twice the upper limits, with other liver function tests within the normal range. Ultrasonography showed normal liver and spleen size and minimal hepatic steatosis. Infectious, autoimmune and metabolic causes of elevated liver enzymes were ruled out, including glycogen storage disease. Dysbetalipoproteinaemia was also ruled out (ApoE phenotype: E3E3). In the following 2 years the girl was symptom-free, BMI was at the 50th-75th centile for age and lipid profile was unchanged despite a low-fat diet. At 13 years of age, low acid lipase activity was demonstrated in leukocytes (10 nmol/h/ per mg protein, normal 140-380) and cultured skin fibroblasts (181 nmol/h per mg protein, normal 1100-2400), leading to diagnosis of CESD. CESD usually progresses to hepatic fibrosis, with high risk of premature atherosclerosis. CESD prevalence may be underestimated in the general population. The diagnosis may be considered in all subjects with atypical combined hyperlipidaemia (usually dominant in transmission or related to metabolic syndrome) and atypical 'fatty liver disease', in the absence of overweight.

Growth in the first two years of uninfected children born to HIV-1 seropositive mothers.

OBJECTIVE: To assess the growth curves of uninfected infants born to type 1 human immunodeficiency virus (HIV-1) seropositive mothers by means of standardised anthropometric indices. METHODS: The z scores (National Center for Health Statistics-World Health Organization data) of weight for age, length for age, and weight for length of 92 uninfected full term infants born to HIV positive mothers were compared with those of 65 bottle fed full term infants born to healthy mothers at 0, 1, 2, 3, 4, 6, 9, 12, 18, and (in a subgroup) 24 months of age. Confounders were also recorded. RESULTS: The study population had a lower length for age z score at birth (95% confidence intervals (CI): 0.02, -0.58) and higher weight for length z scores at 1 (95% CI: 0.21, 0.63), 2 (95% CI: 0.25, 0.66), and 3 (95% CI: 0.0, 0.48) months compared with the reference group. After a temporary recovery, the length for age z score difference increased progressively from the 4th month onwards and was significant at 18 (95% CI: -0.31, -1.05) and 24 (95% CI: -0.02, -0.91) months. The difference between the length for age z scores at birth was associated with maternal covariates, but the between group difference at 18 months was apparent even after adjustment for covariates. CONCLUSION: Uninfected infants born to HIV positive mothers have a rapid weight gain immediately after birth. A decrease in length progression during the second year might be a result of the social risk connected with the family environment and an unfavourable programming related to the maternal HIV status.

Low levels of linoleic acid in plasma total lipids of HIV-1 seropositive children.

OBJECTIVE: To assess the plasma fatty acid status of a group of well-nourished children with the human immunodeficiency virus type-1 (HIV-1) and how this relates to the blood total CD4+ lymphocyte count. SUBJECTS: Fourteen HIV-1 seropositive children at various stages of disease and with adequate growth indices were assessed and compared to a control group of 30 healthy children. RESULTS: The concentrations (mg/dL) of plasma total fatty acids were not different between the two groups. HIV-1 seropositive children presented lower levels of 18-C essential polyunsaturated fatty acids (PUFA: linoleic acid, LA, and alpha-linolenic acid) and higher levels of their 20-C long-chain derivatives (di-homo-gamma-linolenic acid, arachidonic acid, AA, and eicosapentaenoic acid) and docosahexaenoic acid in their plasma total lipids. The lowest plasma LA levels were observed in the subgroup of patients with more advanced stages of disease. In bivariate analyses the plasma LA levels related positively (Spearman r = 0.50, p = 0.06), while the LA/AA ratio related negatively (Spearman r = -0.51, p = 0.06), to the total CD4+ count. CONCLUSIONS: Childhood HIV-1 infection is associated with changes in plasma fatty acid profile suggestive of an increased PUFA turnover. Decreased levels of LA (together with higher plasma AA levels) appear to be associated with more advanced clinical and biochemical stages of disease.

Influence of a mineral water on the rheological characteristics of reconstituted infant formulas and diluted cows' milk.

A bottled spring water with a low mineral content was compared with tap water in the reconstitution and/or dilution of five different infant formulas and cows' milk. The osmolality, buffering power and renal solute load potential of the formulas reconstituted with the bottled water were all significantly lower than when tap water was used (P < 0.01). When the bottled water was used to dilute cows' milk, the morphology of milk casein precipitates (after addition of rennet) was finer and more dispersed than when tap water was used. For formula reconstitution and milk dilution, a benefit, in terms of solute/electrolyte balance, appears to be conferred on infants by the improved rheological characteristics of modified milks reconstituted or diluted with this bottled mineral water.

Granulocyte-colony stimulating factor and erythropoietin therapy in children with human immunodeficiency virus infection.

To determine whether granulocyte-colony stimulating factor and erythropoietin are effective in the therapy of neutropenia and anaemia related to human immunodeficiency virus (HIV) infection and to anti-retroviral agents, we recruited 11 HIV-infected children (mean age 4 years 10 months). All the children were given granulocyte-colony stimulating factor at a dosage of 5 micrograms/kg twice or three times a week while erythropoietin was administered additionally to three patients at a dosage of 50 U/kg twice a week. Both agents were administered subcutaneously for at least 4 months. Leukocyte and neutrophil counts significantly increased during the treatment (after 1 months, P = 0.003 and P = 0.009, respectively). Erythropoietin prevented blood transfusions and increased haemoglobin levels in the three children treated. No side-effects were recorded during the administration of either agent. Granulocyte-colony stimulating factor and erythropoietin appear to be safe and useful agents in the management of HIV-infected children.

Effect of hepatitis C genotype on mother-to-infant transmission of virus.

We evaluated vertical transmission of hepatitis C virus (HCV) in 37 pregnant women, 20 of whom also had human immunodeficiency virus (HIV) antibody. The HCV subtypes 1a and 3a were prevalent among pregnant women with HIV infection. Infection with HCV was transmitted from 30.7% of the 13 mothers with HCV ribonucleic acid (RNA) and HIV antibody and from 25% of the 8 with HCV RNA alone. No mother with HCV antibody but no HCV RNA transmitted HCV to her infant. Subtypes 1b and 3a seemed to be the most common HCV genotypes transmitted.