[Stroke in children and adolescents]. / Schlaganfall bei Kindern und Jugendlichen.

The occurrence of a stroke in children and adolescents constitutes a rare, critical event that is associated with substantial morbidity and mortality. In addition to the individual suffering for the young patient and the medical burden for the affected family, a stroke is also associated with high follow-up costs for the health system because of the necessary long-term rehabilitative treatment. Establishing an early and prompt diagnosis is of great therapeutic importance. Because of the rarity of the illness and the plethora of clinical manifestations, diagnosis is often delayed. The most frequent clinical presentation is an acute focal-neurological deficit, usually in the form of hemiparesis, but headache, seizures or alteration of consciousness may also be seen. Nowadays, the prompt performance of diffusion-weighted, blood-sensitive magnetic resonance imaging (MRI) constitutes the gold standard. The most relevant risk factors for the occurrence of a stroke in this age cohort are vasculopathies, infections, pathological cardiac conditions or coagulopathies. Recurrence of stroke is dependent on the underlying risk factors. In a substantial percentage of patients, residual neurological deficits are seen.Owing to a lack of randomized controlled trials in children and adolescents with stroke, the optimal treatment approach is still under debate. In addition to anti-platelet medication and heparinization, systematic intravenous thrombolysis and endovascular thrombectomy are other potentially effective treatment options. The long-term prognosis in children is dependent on establishing a correct, early diagnosis.

[Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus]. / Hepatomegalia por depósito de glucógeno hepático y diabetes mellitus tipo 1.

Patients with type 1 diabetes and poor metabolic control can develop hepatomegaly due to intrahepatic glycogen deposition. If these patients also have elevated liver enzymes, dyslipidemia, cushingoid features and delayed growth or sexual maturation, Mauriac syndrome can be diagnosed. This disorder is common and reversible with optimization of insulin therapy. We report three adolescents with type 1 diabetes and a long-standing history of poor glycemic control, who developed hepatomegaly, elevated liver enzymes and dyslipidemia with preserved liver function. One of these patients also had delayed growth and another had hypogonadotropic hypogonadism. Liver ultrasound showed changes suggestive of glycogenosis. In all three patients, optimization of insulin therapy achieved good glycemic control and reversed the manifestations within 2 weeks. The etiology of Mauriac syndrome is controversial since both prolonged hyperglycemia and hyperinsulinization produce glycogen accumulation in the liver. Hypercortisolism (due to ketosis or hypoglycemia) contributes to glycogen storage and also causes growth and sexual maturation delay.

Hepatomegalia por depósito de glucógeno hepático y diabetes mellitus tipo 1 / Hepatomegaly due to glycogen storage disease and type 1 diabetes mellitus

Los pacientes diabéticos tipo 1 con mal control metabólico pueden desarrollar hepatomegalia secundaria al depósito de glucógeno intrahepático. Si además presentan hipertransaminasemia, dislipemia, rasgos cushingoides, y retraso del crecimiento y del desarrollo puberal podemos hablar de síndrome de Mauriac. Este síndrome es frecuente y reversible con la optimización del tratamiento insulínico. Presentamos 3 adolescentes diabéticos tipo 1 de larga evolución con mal control metabólico que manifestaron hepatomegalia, hipertransaminasemia y dislipemia con funcionalismo hepático normal. Uno de ellos presentó retraso de crecimiento y otro hipogonadismo hipogonadotropo. Las ecografías hepáticas mostraron glucogenosis. El cuadro revirtió en todos ellos con la optimización de la insulinoterapia manteniendo controles glucémicos normales en el plazo de 2 semanas. La etiología del síndrome Mauriac es controvertida pues tanto la hiperglucemia mantenida como la hiperinsulinización producen glucogenosis. La hipercortisolemia también (fruto de la cetosis o hipoglucemia) y además produce retraso de crecimiento y del desarrollo puberal

Patients with type 1 diabetes and poor metabolic control can develop hepatomegaly due to intrahepatic glycogen deposition. If these patients also have elevated liver enzymes, dyslipidemia, cushingoid features and delayed growth or sexual maturation, Mauriac syndrome can be diagnosed. This disorder is common and reversible with optimization of insulin therapy. We report three adolescents with type 1 diabetes and a long-standing history of poor glycemic control, who developed hepatomegaly, elevated liver enzymes and dyslipidemia with preserved liver function. One of these patients also had delayed growth and another had hypogonadotropic hypogonadism. Liver ultrasound showed changes suggestive of glycogenosis. In all three patients, optimization of insulin therapy achieved good glycemic control and reversed the manifestations within 2 weeks. The etiology of Mauriac syndrome is controversial since both prolonged hyperglycemia and hyperinsulinization produce glycogen accumulation in the liver. Hypercortisolism (due to ketosis or hypoglycemia) contributes to glycogen storage and also causes growth and sexual maturation delay