Syncope, Urinary Retention, and Neuropathy in a 40-Year-Old

Amanda Kennedy, MD, MPH; Jeffrey Kaplan, MD; Dianna Quan, MD


February 27, 2023

Physical Examination and Workup

Upon physical examination, the patient has a BMI of 21. Orthostatic measurements reveal a 60-point decrease in systolic blood pressure and 20-point decrease in diastolic blood pressure, with a heart rate increase of 10 beats/min. He has dusky-colored feet. His cardiac, pulmonary, abdominal, and musculoskeletal examination are otherwise unremarkable.

His mental status is normal. His fundi are normal, and his visual fields and acuity are intact. His pupils are symmetric but poorly reactive to light. A cranial nerve examination is otherwise unremarkable.

He has normal muscle bulk and tone and normal upper-extremity strength. Strength is symmetrically reduced (Medical Research Council Scale for Muscle Strength): 4+/5 in hip flexion and knee extension, 4/5 in foot dorsiflexion, and toe flexion and extension. Knee flexion and foot plantar flexion are strong. Reflexes are 2+ in the arms, 1+ at the knees, and absent at the ankles. Pin sensation is decreased below the mid-thigh bilaterally. He has mildly decreased vibratory sensation in his feet and fingers. His proprioception is normal. He has no dysmetria or tremors. He has mild foot drop with casual gait, unsteady tandem gait, and difficulty walking on his heels.

Results of complete blood cell count, comprehensive metabolic panel, 2-hour glucose tolerance test, A1c level, vitamin B12 level, HIV test, syphilis test, serum protein electrophoresis with immunofixation electrophoresis, anti-SSA/SSB antibody test, erythrocyte sedimentation rate, rheumatoid factor test, antineutrophil cytoplasmic antibody test, anticardiolipin antibody test, antimyeloperoxidase antibody test, celiac panel, and paraneoplastic panel were all unremarkable. Antinuclear antibody titer results were positive (1:320). However, reflex test results, including anti–double-stranded DNA, antiribosomal nuclear protein, anticentromere, and anti-Smith antibodies, were all negative. Lip biopsy results were normal. Skin biopsy revealed reduced numbers of unmyelinated axons in the left calf, with normal numbers in the left thigh.

MRI of the brain was unremarkable. Electromyography and nerve conduction studies showed a moderate to severe sensorimotor axonal polyneuropathy. CT of the chest, abdomen, and pelvis revealed no tumors.


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