ABSTRACT
Complex I deficiency is a frequent defect of the mitochondrial electron transport chain. We report on a 3-year-old boy, who rapidly deteriorated after sudden flushing and collapse. This fatal and unusual case was characterized by widely uncontrollable arterial hypertension. It might indicate that hypertensive crisis could be a potential manifestation of mitochondrial disorders.
Subject(s)
Cerebral Cortex/pathology , Electron Transport Complex I/deficiency , Hypertensive Encephalopathy/etiology , Hypertensive Encephalopathy/pathology , Mitochondrial Diseases/complications , Antihypertensive Agents/therapeutic use , Blood Pressure/physiology , Child, Preschool , Humans , Hypertensive Encephalopathy/drug therapy , Male , Mitochondrial Diseases/enzymology , Mitochondrial Diseases/pathologyABSTRACT
Toxic epidermal necrolysis (TEN) is very rare in the newborn period. So far, three cases of TEN in newborns have been reported worldwide. We report a premature infant of 27 weeks' gestational age with TEN at 4 weeks of age. Sepsis treated by an antibiotic combination regimen preceding the TEN was a common feature of all four cases. In our patient, coagulase-negative staphylococci could be identified by blood culture, whereas the previously reported patients suffered from Klebsiella pneumoniae sepsis or Escherichia coli sepsis. Possibly, the uniform association with septic infection in the cases of TEN in the neonatal period might hint at a causal association, thus differentiating it from TEN in older children or adults.
Subject(s)
Diseases in Twins/etiology , Infant, Premature, Diseases/etiology , Stevens-Johnson Syndrome/etiology , Anti-Bacterial Agents , Drug Therapy, Combination/adverse effects , Fatal Outcome , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases/pathology , Male , Sepsis/complications , Staphylococcal Infections/complications , Stevens-Johnson Syndrome/pathologyABSTRACT
Targeted intrapulmonary delivery of drugs may reduce systemic toxicity, improve treatment efficacy, but inhaled drugs may also interfere with pulmonary surfactant function. We hypothesized that the lipophilic drug amphotericin B used to treat or prevent pulmonary infections with aspergillus species, might destroy surface activity of lung surfactant, as assessed in a pulsating bubble surfactometer. Pure amphotericin B had no effect on a natural surfactant preparation or on the lipid extracted surfactant SurvantaTM. However, amphotericin BTM (containing deoxycholic acid) or deoxycholic acid alone inhibited surfactant surface activity dose dependently and perturbed lipid organization. AmbisomeTM containing amphotericin B associated with liposomes, only marginally affected surfactant function. Intrapulmonary delivery of large amounts of amphotericin BTM has to consider the potential of interferences with lung surfactant function.
Subject(s)
Amphotericin B/adverse effects , Antifungal Agents/adverse effects , Biological Products , Pulmonary Surfactants/antagonists & inhibitors , Administration, Inhalation , Amphotericin B/administration & dosage , Animals , Antifungal Agents/administration & dosage , Aspergillosis/drug therapy , Aspergillosis/metabolism , Cattle , Deoxycholic Acid/administration & dosage , Humans , In Vitro Techniques , Liposomes , Lung Diseases, Fungal/drug therapy , Lung Diseases, Fungal/metabolism , Pulmonary Surfactants/chemistry , Pulmonary Surfactants/metabolism , Surface TensionABSTRACT
Clinical and metabolic changes in the central nervous system are described in a patient with biotinidase deficiency before and after biotin treatment. Lactate, pyruvate and 3-hydroxyisovaleric acid as metabolic disease markers were measured in blood, cerebrospinal fluid and brain tissue by biochemical analyses or localized magnetic resonance proton spectroscopy. The patient improved markedly with biotin treatment. Nevertheless, neurological sequelae and abnormal intracerebral lactate concentrations persisted despite normalized metabolic disease markers in extracerebral fluids. Therefore, localized in vivo measurements of intracerebral metabolites may be a valuable tool for elucidating the pathogenesis of biotinidase deficiency.
