Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.

An 18-month-old infant presented with hypotonia, motor delay, hepatosplenomegaly, rickets and steatorrhoea. Biochemical investigations revealed typical features of Niemann-Pick disease type C. In addition, there was evidence of defective peroxisomal beta-oxidation of branched-chain substrates (3 alpha, 7 alpha, 12 alpha-trihydroxycholestanoic acid and pristanic acid). The steatorrhoea and fat-soluble vitamin malabsorption responded well to bile acid therapy. Possible causes for the double defect are considered.

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).

We report a mother and daughter with features of Aagenaes syndrome. Unlike most previous cases, there is no Norwegian ancestry and the pedigree favours dominant rather than recessive inheritance.

[Nosocomial infection in a pediatric intensive care unit]. / Infecção nosocomial numa unidade de cuidados intensivos pediátricos.

UNLABELLED: Patients in intensive care units (ICU) are 3 to 4 times more prone to nosocomial infection (NI) than patients in general wards owing to the severity of their pathology and the frequent use of invasive procedures. The aim of this study was to establish the incidence of NI in an ICU and the associated risk factors. PATIENTS AND METHODS: During 18 months, all patients with severity scores III and IV (Clinical Classification System) were studied, (n = 575). The admissions were mainly due to accidents (24.7%), neurological (19.1%), surgical (17.2%), respiratory (11.1%) and infectious (7.0%) disease. The mean duration of stay was 2.4 days. The mortality was 5.2%. The evaluation protocol of these patients included determination of the PRISM score, registration of every invasive procedure and daily search for clinical and laboratory signs of infection. NI was defined according to the criteria of the Centers for Disease Control. Both the intrinsic and extrinsic risk factors were analysed and in the statistical analysis the null hypothesis was rejected at the significance level of p < 0.05. RESULTS: The incidence of NI was 7.6%. The infections occurred in the respiratory tract in 20 patients, bloodstream in 8, genito-urinary tract in 2, central nervous system in 2, skin in 2, gastrointestinal tract in 2, eyes in 1 and surgical wound in 1. There were isolates in 60.6%. The mean duration of stay was longer in patients with NI (9.8 versus 1.9). The factors most closely associated with NI were higher PRISM scores, malnutrition, immunodeficiency failure of 2 or more organs, administration of antibiotic since admission or corticosteroids and simultaneous use of 3 or more invasive procedures. The risk of pneumonia was significantly increased in patients with mechanical ventilation and all the patients with bacteremia had central venous catheters. The mortality was higher in the group with NI (18.2%) than in the group without NI (4.4%). CONCLUSIONS: The incidence of NI is acceptable in our ICU. The most frequent location was the respiratory tract (52.6%). The pathogens most frequently isolated in this ICU were Gram negative rods. The risk of NI increased in more debilitated patients with more severe disease who were administered antibiotic or corticosteroids and submitted to more invasive procedures.

[Inter-hospital transfer in pediatrics]. / Transporte inter-hospitalar em pediatria.

We present the results of a prospective study of the technical and human characteristics of the transport of children transferred from other Hospitals to our PICU. During eight months of 1994, 153 children were transferred and 138 included in our study. Their ages varied between one month and fourteen years and the majority (60%) were males. 67% of the patients transferred required Pediatric specialties and 30% required surgical specialties. Accidents were the most common pathology (40%), followed by neurologic, respiratory and infectious situations (15% each) The most frequently used means of transport was an ambulance, in 88% of the cases. Only 12% of these were medically equipped and 10% had CPR material available. In 23% of the transports the patient was accompanied by both a nurse and a medical doctor. In 25% by a nurse only and in 14% by a medical doctor. None of them had training in transport medicine. The length of the transport varied between 30 min. and 14 h, with a mean of 2h. Ten patients had major complications during transfer. Their CCS on arrival at the PICU was > or = 3 in 55% of the cases. Based on these results we discuss the obvious need for a Pediatric Transport System in our country.

[Adult type respiratory distress syndrome (ARDS) induced by hydrocarbons]. / Síndrome de dificuldade respiratória tipo adulto (ARDS) induzido por hidrocarbonetos.

The authors present a case of a child aged 32 months, victim of accidental ingestion of an unidentified hydrocarbon product. Sixteen hours following hospitalization, the patient began polypnea with progressive hypoxemia, with the radiograph showing ARDS pattern. Mechanical ventilation was initiated on the 2nd day of admission. During hospitalization the patient developed pneumomediastinum and bilateral pneumothorax which justified active drainage. Inspite of the initial poor prognosis, the patient improved, with no symptoms after discharge. The authors discuss certain theoretical considerations regarding hydrocarbon intoxication.