Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) can lead to prominent nerve hypertrophy, which can mimic other forms of neuropathy radiologically. Neuro-ophthalmological complications can also occur in CIDP, either at presentation or chronically in the disorder. This can also cause diagnostic difficulties. We report three cases of neuro-ophthalmological complications of CIDP: two cases of papilloedema and one case of proptosis. In all three cases cranial nerve hypertrophy was present. CIDP should be considered in neuro-ophthalmological presentations associated with cranial/spinal nerve root hypertrophy.

Head and neck squamous cell carcinoma (HNSCC) can be divided into two different clinical entities based on their association with high-risk subtypes of human papilloma virus (HPV16 and HPV18). Dissimilarities in prognosis and molecular profiles have attracted much attention in recent years, in part because of increasing rates of HPV infection in HNSCC; however, the underlying mechanisms and detailed genetic profiles that set these tumors apart are still elusive. To elucidate oncogenic pathways in HNSCC with and without HPV infection, we used targeted next-generation sequencing to interrogate single-nucleotide polymorphisms (SNPs) in 50 cancer-related genes. We detected SNPs in 25 of these genes from HNSCC tissue specimens with and without HPV infection. In 5 of the 25 genes, variant patterns were similar regardless of HPV infection status. A greater number of sequence variants in genes from the tyrosine kinase receptors and their associated pathways were preferentially present in HPV(+) specimens. SNPs in genes related to tumor-suppressor functions were more prevalent in HPV(-) HNSCC specimens. The observations may help to elucidate mechanisms involved in the molecular pathogenesis of two clinically diverse subclasses of HNSCC. Over-representation of SNPs in either HPV(+) or HPV(-) HNSCC is another indicator of potentially actionable sequence variants for targeted therapy.

Takayasu's arteritis (TA) is a granulomatous vasculitis of medium and large arteries, which most often presents as pulseless disease due to widespread arterial stenoses. Only the minority of TA patients have aortic valve insufficiency, which is due to aortic root dilatation following aortitis and aneurysm formation. No other cardiac valve is involved. We report a case of Takayasu's disease-related severe aortic insufficiency (AI) in a Filipino woman, which necessitated aortic valve replacement. It is important to consider TA in the differential diagnosis of AI in young women, particularly those with early-onset systemic hypertension and pulse deficits. Early diagnosis and therapy of TA can improve outcomes.

Lesions metastatic to the site of a meningioma resection from a different primary tumor are rare. Metastasis of a tumor without a known primary tumor is also rare. Metastasis of a renal cell carcinoma, without an identifiable primary tumor, to the bed of a meningioma resection has not been previously reported. The authors describe the case of a 54-year-old man who presented with decreased sensory and motor function in the lower extremities. He underwent T3–5 laminectomies and gross-total removal of an intradural, extramedullary meningioma. The postoperative course was uneventful, and the patient regained full neurological function. After a 3-year period, he developed progressive upper thoracic pain and lower-extremity paresthesias. Imaging studies showed an epidural mass at the T2–4 levels and what appeared to be blastic involvement of the T2–4 vertebrae. A metastatic workup was negative. Emergency revision laminectomies yielded a fibrous, nonvascular mass. Neuropathology was consistent with metastatic renal cell carcinoma. After 6 months, the patient's symptoms of pain and paresthesias recurred. Repeat excision, with decompression of the spinal cord, revealed tumor cells morphologically and immunophenotypically similar to those obtained from the prior surgery. Cytogenetic analysis confirmed the presence of metastatic renal cell carcinoma. A novel case of an epidural metastatic renal cell carcinoma, of unknown primary origin, in the same operative bed of a previously resected intradural, extramedullary meningioma of the thoracic spine is reported.

Immune-mediated necrotizing myopathy is a very rare inflammatory disease affecting skeletal muscles. Immune-mediated necrotizing myopathy may be associated with myositis-specific autoantibodies including anti-single recognition particle and anti-3-hydroxy-3- methylglutaryl-coenzyme A reductase, infectious agents (HIV or hepatitis C), other connective tissue disorders (such as scleroderma), and malignancy. We reported a 28-year-old healthy woman presented with subacute onset ascending muscle weakness 2 weeks after an annual influenza vaccination. Cerebral Spinal Fluid study showed normal cell counts with elevated protein and nerve conduction study showed reduced diffuse compound muscle action potential amplitudes suggesting a diagnosis of Guillain-Barré syndrome. Despite treatment using intravenous immunoglobulin, her condition continued to get worse with new bulbar and respiratory muscle weakness. Eventually, the diagnosis of anti-single recognition particle-mediated necrotizing myopathy was made based on elevated creatine kinase, thigh magnetic resonance imaging, muscle biopsy, and positive antibody testing. Our patient responded to the combination of intravenous immunoglobulin, prednisone, and anti-CD20 monoclonal antibody, rituximab.