Gene/Protein Disease Symptom Drug Enzyme Compound
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Neuromuscular hamartoma is a pseudotumour characterized by the presence of striated muscle fibers in a nerve trunk. The reported case was located in the left sciatic nerve in a 4-year-old girl with equinism and spasticity. A first surgical procedure, with muscle biopsy, did not permit diagnosis of hamartoma. It was followed by the occurrence of a firm mass at the same location. Partial excision was performed; the mass revealed to be fibrous. Further aggravation of functional symptoms lead to leg amputation and correct diagnosis. Discussion is focused on the unique features of this rare disorder, for which therapeutic attempts might be avoided, whereas diagnosis proved to be sometimes difficult.
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PMID:[Neuromuscular hamartoma]. 203 33