RESUMO
INTRODUCTION: Cerebral edema (CE) is a rare and dangerous complication of diabetic ketoacidosis. In typical cases, it may develop during several hours after the beginning of ketoacidosis therapy. Nevertheless, CE sometimes occurs before the start of any therapy - as for the patient in this report here. CASE REPORT: We describe a 12-year-old girl with newly diagnosed type 1 diabetes, presenting with severe headache and disorientation. Diabetes-related symptoms were not reported by the family. Clinical investigation revealed signs of meningeal irritation and Kussmaul breathing. In the laboratory, severe ketoacidosis (pH 6.95) and hyperglycemia (blood glucose 20.9 mmmol/l) were found. Cranial computed tomography showed CE. The patient was treated with a very cautious fluid and insulin therapy and recovered within 3 days. MRI after recovery showed normal findings without residuals of CE. CONCLUSION: CE before any treatment of ketoacidosis is a very rare complication of type 1 diabetes. Early diagnosis and effective treatment are extremely important for the patient's outcome and prognosis.
Assuntos
Edema Encefálico/complicações , Diabetes Mellitus Tipo 1/complicações , Cetoacidose Diabética/etiologia , Adolescente , Criança , Diabetes Mellitus Tipo 1/tratamento farmacológico , Cetoacidose Diabética/tratamento farmacológico , Feminino , Humanos , Hipoglicemiantes/uso terapêutico , Insulina/uso terapêutico , Prognóstico , Resultado do TratamentoRESUMO
We report a neonate with hypertrophic cardiomyopathy and lethal myeloproliferative disorder with excessively proliferating immature erythroid precursors infiltrating non-hematopoietic organs. Mutational analysis uncovered a germline mutation in the Noonan syndrome/LEOPARD syndrome (NS/LS) gene PTPN11. In conclusion, this case report suggests that congenital myeloproliferative disorders in association with germline PTPN11 mutations may affect the erythroid lineage.
