BACKGROUND: Neuromuscular choristomas (NMC) are rare congenital lesions with differentiated muscle found within peripheral nerves. Patients often present with progressive neuropathy, undergrowth of the affected limb, and limb length discrepancy. In the sciatic nerve (the most common location of NMC), this may lead to specific manifestations in the distal limb, including progressive neuropathy, a shortened atrophic limb and a cavus foot. We hypothesized that the presence of NMC of the sciatic nerve (proximal to the sciatic notch) extending to the lumbosacral plexus could lead to abnormalities in proximal nerve territories (i.e., nerve, muscle and bone) within the hemipelvis. METHODS: A retrospective review of all cases of sciatic nerve NMCs diagnosed at the Mayo Clinic was performed. RESULTS: Seven patients were identified with sciatic nerve NMCs extending proximal and distal to the sciatic notch. Four patients with NMCs had denervation of muscles within the pelvis and ipsilateral undergrowth of bone which resulted in three cases of hip dysplasia. To our knowledge, the finding of proximal nerve-territory soft tissue and bony undergrowth (including hip dysplasia) in patients with NMCs involving the sciatic nerve and lumbosacral plexus has not previously been recognized. CONCLUSION: This finding will aid in both the diagnosis of the disease and an understanding of associated conditions.
BACKGROUND:Neuromuscular choristomas (NMC) are rare congenital lesions with differentiated muscle found within peripheral nerves. Patients often present with progressive neuropathy, undergrowth of the affected limb, and limb length discrepancy. In the sciatic nerve (the most common location of NMC), this may lead to specific manifestations in the distal limb, including progressive neuropathy, a shortened atrophic limb and a cavus foot. We hypothesized that the presence of NMC of the sciatic nerve (proximal to the sciatic notch) extending to the lumbosacral plexus could lead to abnormalities in proximal nerve territories (i.e., nerve, muscle and bone) within the hemipelvis. METHODS: A retrospective review of all cases of sciatic nerve NMCs diagnosed at the Mayo Clinic was performed. RESULTS: Seven patients were identified with sciatic nerve NMCs extending proximal and distal to the sciatic notch. Four patients with NMCs had denervation of muscles within the pelvis and ipsilateral undergrowth of bone which resulted in three cases of hip dysplasia. To our knowledge, the finding of proximal nerve-territory soft tissue and bony undergrowth (including hip dysplasia) in patients with NMCs involving the sciatic nerve and lumbosacral plexus has not previously been recognized. CONCLUSION: This finding will aid in both the diagnosis of the disease and an understanding of associated conditions.