Therapy in pediatric stroke.

The aim of this review is to summarize the existing literature on therapy and management of cerebrovascular insults in children and adolescents. As data sources, studies were identified by MEDLINE, PubMed, Cochrane Library, and relevant bibliographies for the topic "pediatric stroke." We also reviewed guidelines for "stroke in adults." As a result, pediatric stroke is underestimated. The annual incidence for all stroke entities (cerebral venous thrombosis and hemorrhagic and arterial ischemic stroke) is as high as for pediatric brain tumors, 3-15/100.000 children per year. A distinct etiology can be determined only in a minority of them. Underlying risk factors are multiple, mainly vasculopathies, congential heart diseases, coagulopathies, lipometabolic disorders, and sickle cell anemia. Current recommendations for therapy are based on adult studies, are preliminary, and discussed controversially. Antithrombotic therapy is uniformly recommended for the acute stage of pediatric stroke; no consensus exists on antiplatelet therapy with acetylsalicylic acid (ASA, aspirin) (5 mg/d), with ultra-fractionated or low-molecular-weight heparin. Thrombolysis using recombinant tissue plasminogen activator is not advised, despite the fact that current practice takes a different approach. None of the guidelines specify the duration of ASA for secondary prevention. Additional supportive therapy measures are osmotherapy and decompressive craniectomy. Oxygen in the absence of hypoxemia, intensive insulin therapy, antiepileptic drugs in the absence of clinical or electrographic seizures, corticosteroids, and GP-IIb/IIIa-receptor antagonists should not be used outside clinical trials. In conclusions, current therapeutic guidelines for pediatric stoke are still based on consensus and expert and society opinions and differ between countries. Consensus prevails on the need for acute anticoagulation using either antiplatelets or heparin. Long-term treatment with acetylsalicylic acid in all or only high-risk patients and for how long remains the subject of debate. Lifelong secondary prevention has never been investigated in children or adults. All guidelines agree that there is no indication for thrombolysis in children outside clinical trials, although clinical practice in large centers differs.

Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

We report on a 4.5-year-old patient diagnosed with Glutaric aciduria type I (GAI), an autosomal recessive inborn error of lysine, hydroxylysine and tryptophan metabolism. Enzymatic assay in cultivated skin fibroblasts revealed complete absence of glutaryl-CoA dehydrogenase activity. All 11 Exons of the GCDH-Gen were sequenced and homozygosity for a yet undescribed mutation was identified. The patient was treated following the recently published guidelines for GA-I. Following this treatment regimen, the child developed normally without any manifest clinical crises. Our patient provides evidence that early commencement and strict adherence to treatment improves clinical outcome even in patients with complete absence of enzyme activity.