Value of immunohistochemical investigation in the diagnosis of neuromuscular diseases in children.

UNLABELLED Neuromuscular diseases represent an important group in pediatric pathology. Immunohistochemistry together with clinical examination and morphologic exam are very important in the diagnosis of neuromuscular disorders. PATIENTS AND METHODS One hundred children diagnosed with neuromuscular disorders were included in a prospective-retrospective study in 25 years. RESULTS There were 58 neurogenic diseases and 42 muscular dystrophies. In positive and differential diagnosis very important were the morphologic and immunohistochemical investigations. Seventy-three percent had positive family history and 27% of dystrophic patients had "de novo" mutations. The most part of the neurogenic disorders were spinal motor atrophies, 91.38%. CONCLUSIONS Neurogenic muscular diseases were the most common neuromuscular diseases in our patient group. The immunohistochemical investigation was very useful in diagnosing some of these cases.