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Alcohol use disorder
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Cobalamin deficiency
Genetic mutation
Treponemal infection
Vestibular neuritis
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This patient who presents with broad-based ataxia, aortic insufficiency (early diastolic decrescendo murmur), and pupils that do not react (no change in size with light) most likely has tertiary syphilis infection. Syphilis is caused by an infection with Treponema pallidum. Syphilis infection in adults occurs in 3 characteristic sequential stages. Primary syphilis occurs shortly after initial transmission of infection and presents with a painless genital chancre with an indurated edge. This typically disappears within a month of infection. Secondary syphilis occurs when the disease disseminates and presents as a diffuse, maculopapular rash that involves the palms and soles associated with lymphadenopathy and patchy alopecia in the weeks to months following infection. Finally, if left untreated over the course of decades, patients can develop tertiary syphilis, which presents with chronic granulomas known as gummas, aortitis from the destruction of the vasa vasorum, broad-based ataxia due to tabes dorsalis, and Argyll Robertson pupils that constrict with accommodation, but are not reactive to light. The diagnosis of syphilis is made with the non-specific rapid plasma reagin (RPR) or venereal disease research laboratory (VDRL) tests followed by a confirmatory treponemal test (e.g., FTA-ABS). The treatment for early and late syphilis is benzathine penicillin G. Tang et al. studied the rate at which patients with tertiary syphilis were misdiagnosed in rural China. They found that almost half of patients studied met criteria for misdiagnosis when presenting with symptoms of neurosyphilis. They recommended that expanded syphilis screening programs are needed in such resource-constrained settings. Incorrect Answers: Answer 1: Alcohol use disorder can also present as ataxia and confusion due to Wernicke-Korsakoff syndrome. Patients with Wernicke encephalopathy present with altered mental status, ataxia, and nystagmus. Patients with Korsakoff syndrome present with confabulation and psychosis. Aortic insufficiency and non-reactive pupils would not be present. Answer 2: Cobalamin deficiency can present as ataxia due to subacute degeneration of the dorsal columns leading to impaired light touch and proprioceptive afferents from the lower extremities. However, this disease would also present with a megaloblastic anemia rather than aortic insufficiency and non-reactive pupils. Answer 3: A genetic mutation in the frataxin gene can present as Friedreich ataxia. Patients with this disease would present with diabetes, cardiomyopathy, and scoliosis rather than aortic insufficiency and non-reactive pupils. Answer 5: Vestibular neuritis can also present as ataxia due to vertigo. However, this disease would be isolated to balance abnormalities rather than aortic insufficiency and non-reactive pupils. Bullet Summary: Tertiary syphilis presents with tabes dorsalis, aortic insufficiency, pupils that accommodate but do not react, and dementia.
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