Revista de neurologia
-
Revista de neurologia · Dec 2014
Clinical Trial[Response to everolimus in patients with giant cell astrocytoma associated to tuberous sclerosis complex].
Subependymal giant cell astrocytomas (SEGA) appear in 5-20% of patients with tuberous sclerosis complex (TSC) and are the most common brain tumours in TSC. They are benign tumours, of a glioneural stock, that develop mainly in the first two decades of life, generally close to the foramen of Monro, and can trigger hydrocephalus and intracranial hypertension. It is one of the leading causes of death in TSC. Recently mTOR inhibitors have proved to be a therapeutic alternative to surgical excision. AIM. To describe our experience of using everolimus to treat patients with SEGA and TSC. ⋯ Treatment with everolimus reduces the size of SEGA associated with TSC with an adequate safety profile, and constitutes an alternative to surgery in certain cases.
-
Revista de neurologia · Dec 2014
Case Reports[Variability in the clinical presentation of Pompe disease in infancy: two case reports and response to treatment with human recombinant enzyme].
Pompe disease/glycogen storage disease type II is a congenital metabolic disorder. It is an autosomal recessive disease where there is a deficiency of acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. We describe two infantile onset cases with heterogeneous presentations. ⋯ GAA is the only authorized option for Pompe disease treatment; the effects observed are similar to the ones described in the literature, with excellent outcome in the hypertrophic cardiomyopathy but less effective in the skeletal muscle.