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.