Distrofia muscular congênita de Ullrich moderadamente progressiva

OBJETIVOS: Descrever caracteristicas clinicas e geneticas da distrofia muscular congenita de Ullrich (DMCU), e relatar o caso de um paciente diagnosticado com DMCU apos uma exaustiva investigacao, que incluiu analise imuno-histoquimica e genomica do colageno tipo VI. DESCRICAO: Este estudo baseou-se na avaliacao clinica e imuno-histoquimica do tecido muscular e na analise genomica dos fibroblastos dermicos de um menino de 7 anos e meio, e do DNA dos seus pais. Sao discutidos aspectos clinicos e o diagnostico diferencial com outras doencas. COMENTARIOS: O melhor conhecimento das distrofias musculares congenitas aumentara o numero de diagnosticos corretos e abrira novos horizontes para o tratamento dessas doencas. A avaliacao genetica dos pacientes com DMCU tem implicacoes relevantes para o prognostico e o aconselhamento genetico da familia. E aconselhavel divulgar essa doenca na comunidade pediatrica, devido ao inicio precoce das manifestacoes clinicas e o fato de ser frequentemente mal diagnosticada ou nao ser diagnosticada. OBJECTIVES: To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive investigation, which included collagen VI immunohistochemical and genomic analyses. DESCRIPTIONS: This study was based on clinical, immunohistochemical assessment of muscle tissue and genomic analysis of dermal fibroblasts of a 7 1/2-year old boy and of the DNA of his parents. Clinical aspects and differential diagnosis with other disorders are discussed. COMMENTS: A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases. Genetic evaluation of UCMD patients has relevant implications for prognosis and genetic counseling of the family. The divulgation of this disorder in the pediatric community is advisable, because of the early onset of clinical manifestations and the fact that it is frequently misdiagnosed or not diagnosed at all.