Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.

Background: Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon. We will report a rare case of association of pathogenic variants on PNPLA2 and CLCN1 genes with a mixed phenotype of NLSD-M and a subclinical form of Thomsen's congenital myotonia.

Decompressive craniectomy versus conservative treatment: limits and possibilities in malignant stroke.

Background: Malignant infarction of the middle cerebral artery (MCA) occurs in a subgroup of patients with ischemic stroke and early decompressive craniectomy (DC) is one of its treatments.

Objective: To investigate the functional outcome of patients with malignant ischemic stroke treated with decompressive craniectomy at a neurological emergency center in Northeastern Brazil.

Methods: Prospective cohort study, in which 25 patients were divided into two groups: those undergoing surgical treatment with DC and those who continued to receive standard conservative treatment (CT).