Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy

Localized hypertrophic neuropathy is a rare Schwann cell proliferation that usually affects single nerves from the extremities, and it is of unclear etiology in its pure form. RASopathies are a defined group of genetic diseases with overlapping clinical features, usually secondary to germline mutations in genes encoding either components or regulators of the RAS/MAPK pathway. Herein, we report an 11-year-old boy presenting with café au lait spots and right leg length discrepancy. A fascicular nerve biopsy of the tibial nerve demonstrated a Schwann cell proliferation with prominent onion-bulb formation, satisfying criteria for localized hypertrophic neuropathy. Molecular genetic analysis demonstrated identical KRAS mutations (c38_40dupGCG) in the peripheral nerve lesion and melanocytes from café au lait spots, but not in blood, supporting a diagnosis of a KRAS-mediated rasopathy with mosaicism. Immunohistochemical staining in the peripheral nerve lesion demonstrated strong pERK staining consistent with downstream MAPK pathway activation. This report suggests that at least a subset of localized hypertrophic neuropathies are bonafide, well-differentiated Schwann cell neoplasms developing through oncogenic RAS signaling, which provides new insights into the controversial entity historically known as localized hypertrophic neuropathy.

Drop foot Post Mitral Valve Replacement and Total correction of Tetralogy of Fallot: A Two Case Report

Background: Peripheral nerve lesion after heart surgery was reported on brachial plexus, phrenic nerve, laryngeal recurrent nerve facial nerve, lumbosacral root and spinal cord. Incidence of peroneal communis nerve lesion after heart surgery was not much reported (0,19%). Diagnostic procedure of peripheral nerve lesion are including clinical sign and symptom, electrophysiology studies and MRI. Rehabilitation management of peripheral nerve lesion are not only management of pain and nerve stimulation, but also walking aid beside cardiac rehabilitation due to cardiac problem.Methods: Reporting two case of peripheral nerve lesion after heart surgery. First case is a female, 37 years old suffered from drop foot two days after mitral valve replacement with mechanic valve. She got pain management, electrical nerve stimulation and therapeutic exercise beside cardiac rehabilitation program. Second case is a female, 9 years old, after total correction of Tetralogy of Fallot, got drop foot at day two. She also got pain management, electrical nerve stimulation and therapeutic exercise beside cardiac rehabilitation.Results: First case result was the drop foot getting better after she entered phase two of cardiac rehabilitation. In the second case, the drop foot was relieved at phase two cardiac rehabilitation and back to normal condition after one year after surgery.Conclusion: In these two case of drop foot after heart surgery, the drop foot was relieved after pain and rehabilitation management beside cardiac rehabilitation.

Drop foot Post Mitral Valve Replacement and Total correction of Tetralogy of Fallot: A Two Case Report

Background: Peripheral nerve lesion after heart surgery was reported on brachial plexus, phrenic nerve, laryngeal recurrent nerve facial nerve, lumbosacral root and spinal cord. Incidence of peroneal communis nerve lesion after heart surgery was not much reported (0,19%). Diagnostic procedure of peripheral nerve lesion are including clinical sign and symptom, electrophysiology studies and MRI. Rehabilitation management of peripheral nerve lesion are not only management of pain and nerve stimulation, but also walking aid beside cardiac rehabilitation due to cardiac problem.Methods: Reporting two case of peripheral nerve lesion after heart surgery. First case is a female, 37 years old suffered from drop foot two days after mitral valve replacement with mechanic valve. She got pain management, electrical nerve stimulation and therapeutic exercise beside cardiac rehabilitation program. Second case is a female, 9 years old, after total correction of Tetralogy of Fallot, got drop foot at day two. She also got pain management, electrical nerve stimulation and therapeutic exercise beside cardiac rehabilitation.Results: First case result was the drop foot getting better after she entered phase two of cardiac rehabilitation. In the second case, the drop foot was relieved at phase two cardiac rehabilitation and back to normal condition after one year after surgery.Conclusion: In these two case of drop foot after heart surgery, the drop foot was relieved after pain and rehabilitation management beside cardiac rehabilitation.