Prospective study of 11 Brazilian patients with mucopolysaccharidosis II.

Objective: To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period.

Methods: Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration.

Infantile Systemic Hyalinosis: report of three unrelated Brazilian children and review of the literature.

Infantile Systemic Hyalinosis (ISH) is an autosomal recessive disorder characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscles and glands. Recently, mutations in the capillary morphogenesis gene-2 (CMG-2), a transmembrane protein with important roles in cell-cell adhesion and cell-extracellular matrix interactions, have been shown to cause ISH. We report on three unrelated Brazilian children presenting in the first days of life with a limited range of joint movements, progressing to painful joint contractures.