ABSTRACT
We report the case of a 7-year-old girl with septic shock and coagulopathy associated with purpura fulminans (PF) and diffuse alveolar hemorrhage (DAH) due to group A Streptococcus (GAS) infection identified with 16S ribosomal RNA analysis performed on the skin biopsy. GAS infection with PF associated with DAH is rare in healthy young children but pediatricians should be aware of this condition because of the poor prognosis. The initial treatment for circulatory failure and severe disseminated intravascular coagulation as well as the prompt initiation of antibiotic treatment may be crucial for the outcomes of S. pyogenes PF.
Subject(s)
Hemorrhage/etiology , Pulmonary Alveoli/abnormalities , Purpura Fulminans/complications , Streptococcal Infections/complications , Anti-Bacterial Agents/therapeutic use , Child , Female , Hemorrhage/physiopathology , Humans , Pulmonary Alveoli/physiopathology , Purpura Fulminans/diagnosis , Streptococcal Infections/diagnosisABSTRACT
AIM: Leprechaunism, a rare genetic disease resulting from mutations in two alleles of the insulin receptor gene, is characterized by severe insulin resistance, retarded growth and, usually, premature death. The ability of treatment with recombinant human insulin-like growth factor 1 (rhIGF1) to improve metabolic and clinical parameters in the long-term is still controversial. METHODS: Mutations were looked for in the insulin receptor gene of a four-month-old female baby with leprechaunism. The patient's skin fibroblasts were analyzed for response to insulin and IGF1. At the clinical level, the very long-term effects of treatment with rhIGF1/rhIGFBP3 were evaluated by clinical and metabolic parameters. RESULTS: The patient's diagnosis was based on compound heterozygous mutations in two alleles of the insulin receptor gene, thus confirming leprechaunism. Cultured fibroblasts showed a decreased number of insulin receptors and were insulin-resistant. However, IGF1 was able to stimulate IGF1 receptor signalling, suggesting possible activation of a salvage pathway. Treatment with IGF1/IGFBP3 for 8.7 years, then IGF1 for 2 years, resulted in normalization of circulating levels of IGF1 and IGFBP3. Large daily variations in glycaemia and insulinaemia persisted, but mean glycaemia decreased. Regarding growth, the patient's BMI Z score normalized and length/height score improved. Our patient presented normal neurological development and academic achievement. The treatment was free of adverse effects. CONCLUSION: Our results provide evidence that rhIGF1 with and without rhIGFBP3 can prevent fatal outcomes, and improve growth and metabolic parameters, for more than 10 years in a patient with leprechaunism. Long-term rhIGF1 for severe insulin resistance syndrome should be considered.
Subject(s)
Antigens, CD/genetics , Child Development , Donohue Syndrome/drug therapy , Insulin Resistance/genetics , Insulin-Like Growth Factor I/therapeutic use , Mutation , Receptor, Insulin/genetics , Child , Child Development/drug effects , Child, Preschool , Donohue Syndrome/genetics , Donohue Syndrome/metabolism , Donohue Syndrome/physiopathology , Female , Follow-Up Studies , Hormone Replacement Therapy , Humans , Infant , Insulin-Like Growth Factor I/metabolism , Recombinant Proteins/therapeutic use , Treatment OutcomeABSTRACT
In pediatric intensive care unit, the available modalities of acute renal replacement therapy include intermittent hemodialysis, peritoneal dialysis and continuous renal replacement therapies. No prospective studies have evaluated to date the effect of dialysis modality on the outcomes of children. The decision about dialysis modality should therefore be based on local expertise, resources available, and the patient's clinical status. Poor hemodynamic tolerance of intermittent hemodialysis is a common problem in critically ill patients. Moreover, many pediatric intensive care units are not equipped with dedicated water circuit. Peritoneal dialysis, a simple and inexpensive alternative, is the most widely available form of acute renal replacement therapy. However, its efficacy may be limited in critically ill patients. The use of continuous renal replacement therapy permits usually to reach a greater estimated dialysis dose, a better control of fluid balance, and additionally, to provide adequate nutrition.
