There has been an increase in the rates of syphilis in recent years attributed to the AIDS epidemic and illicit drug use. 1 Neurosyphilis can present either in meningeal/vascular form or parenchymal form. 2 Given its versatile presentations, syphilis is considered a “great imitator.” We report a rare presentation of neurosyphilis as myoclonus ataxia syndrome with unusual imaging findings.
Case Report
A 23‐year‐old man presented with progressive sensorineural hearing loss and tinnitus from the left ear for the past 6 months. He developed a headache in the left temporal region 2 months later. At 3 months into the illness, he started having involuntary neck movements in a yes–yes manner. The patient also reported a change in his handwriting associated with right‐hand tremors. He noticed an imbalance while walking along with jerky movements of the body. Sudden unexpected sounds or tactile stimuli aggravated these jerky movements. His voice also acquired a jerky character. At 2 weeks before the presentation, he reported an increase in the severity of his symptoms, becoming nonambulant without support and choking while eating solids and liquids. There was a significant history of mild intermittent fever for the past 6 months associated with a loss of weight and appetite. A general physical examination was normal except for a maculopapular rash over the nape of his neck. He scored 29/30 on the Mini‐Mental State Examination. Visual acuity was 6/9 in both eyes, with normal fundus examination. Pupils were normal in size and reacted to light. Extraocular movements were complete with normal pursuit and saccades. Sensorineural hearing loss was confirmed on pure tone audiometry. Power was 4/5 in all the muscle groups, with weakness in the small muscles of the hands. Deep tendon reflexes were 3+, with withdrawal plantar response.
Sensory examination, including posterior column sensations, was normal. Cerebellar examination revealed a broad‐based gait with impaired finger–nose test and dysdiadochokinesia. He also displayed stimulus‐sensitive myoclonus affecting proximal and axial musculature with an exaggerated jaw jerk suggestive of brainstem origin (Video 1, segment 1). Routine investigations, including viral markers (HIV, hepatitis C virus, hepatitis B surface antigen), were noncontributory. Serological tests for borrelia and brucella were negative. Pathergy test was negative, and human leucocyte antigen B51 came out to be positive. Brain magnetic resonance imaging (MRI) revealed T2/fluid‐ attenuated inversion recovery (FLAIR) hyperintensities in the bilateral thalami, internal capsule, midbrain, pons, and superior and middle cerebellar peduncles, with no diffusion restriction or susceptibility changes. Pial‐based lesions showing peripheral contrast enhancement with central necrotic areas were seen along the ventral surface of the midbrain and pons (Fig. 1). Cerebrospinal fluid (CSF) analysis revealed lymphocytic pleocytosis (217 cells/μl) with raised proteins (836 mg/dl) and low sugar (34 mg/dl), positive CSF oligoclonal bands, and negative cryptococcal antigen and flow cytometry.
Video 1.
Segment 1: Broad‐based ataxic gait with generalized myoclonic jerks aggravated with tactile stimulation and causing interrupted speech. Segment 2: Significant resolution of symptoms at 1 month with treatment. Segment 3: Complete resolution at the 3‐month follow‐up.
FIG. 1.
Brain magnetic resonance imaging showing T2/FLAIR hyperintensities in the midbrain (A, B [with gummas, black arrows]), pons (D, E), middle cerebellar peduncle (D, E), bilateral thalami (G, H), and internal capsule (J, K) with pial‐based enhancing gummatous lesions (black arrows) along the ventral surface of the brainstem (F, I) with the depiction in coronal (C) and sagittal (L) cuts.
Given the presentation of myoclonus ataxia syndrome, we kept the possibilities of infective/inflammatory/neoplastic etiology. A fluorodeoxyglucose (FDG) positron emission tomography scan revealed FDG avid meningeal lesions along the brainstem and basal ganglia (Supplementary Fig. S1). Skin biopsy from the rash was consistent with polymorphous light eruption and was a red herring in all probability. Whole mitochondrial genome sequencing came out to be negative. The clincher for the diagnosis of neurosyphilis was the positive report of serum (1:64 titers) as well as CSF venereal disease research laboratory (VDRL; 1:2 dilution), which was confirmed by CSF treponema pallidum haemagglutination assay (TPHA) positivity. He was started on crystalline penicillin (4 MU every 4 hours) for 14 days, following which a dramatic clinical and radiological resolution was observed (Video 1, segments 2 and 3; Fig. 2). There was also an improvement in CSF parameters (50 cells, protein 88 mg/dl and sugar 46 mg/dl), with negative CSF VDRL and TPHA on follow‐up. Serum VDRL titers were reduced to 1:32 dilution.
FIG. 2.
Brain and spinal cord magnetic resonance imaging showing resolution of the lesions after treatment with penicillin (A, C, D, F).Subtle lesions with mild enhancement are visible in the midbrain (B, E).
Discussion
Neurosyphilis presenting as a movement disorder is rare. The movement disorders reported included tremors, chorea, parkinsonism, ataxia, myoclonus, dystonia, athetosis, and ballism. 3 Tong et al, in their retrospective analysis, presented 7 cases of movement disorders secondary to neurosyphilis, the most common being parkinsonism (4 patients), with 1 patient each of corticobasal syndrome, laryngeal dystonia, and sensory ataxia. 4 In 2012, Shah et al reviewed all the reported cases of acquired neurosyphilis as a movement disorder. 5 There is only 1 case of myoclonus ataxia syndrome secondary to neurosyphilis reported in the literature, the second being ours. 6
Besides a rare presentation, our case is unique in its radiological presentation. Around two‐thirds of patients with neurosyphilis can have normal imaging. Other findings reported in the literature include cerebral atrophy, cerebral infarction, white matter lesions, leptomeningeal enhancement, arteritis, cranial nerve enhancement, and rarely temporal lobe and thalamic involvement. 7 , 8 , 9 Our patient's MRI depicted extensive involvement of the thalami, brainstem, and internal capsule with pial‐based enhancing lesions in the brainstem, suggesting both meningeal and parenchymal involvement.
To conclude, neurosyphilis is a great mimicker that can have diverse clinical and radiological presentations. We should be cognizant of its varied manifestations as it is a treatable disease.
Author Roles
(1) Research Project: A. Conception, B. Organization, C. Execution; (2) Manuscript Preparation: A. Writing of the first draft, B. Review and Critique.
R.J.:1B, 1C
S.M.: 1B, 1C, 2A, 2B
K.C.: 1C, 2B
C.K.A.: 1C, 2C
V.L.: 1A, 2B
Disclosures
Ethical Compliance Statement: The authors confirm that the approval of an institutional review board was not required for this work. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. We also confirm that the patient's guardian has given written informed consent for the publication of his video.
Funding Sources and Conflicts of Interest: No specific funding was received for this work. The authors declare that there are no conflicts of interest relevant to this work.
Financial Disclosures for the Previous 12 Months: The authors declare that there are no additional disclosures to report.
Supporting information
Figure S1. Fluorodeoxyglucose avid lesions along brainstem and basal ganglia.
Relevant disclosures and conflicts of interest are listed at the end of this article.
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Supplementary Materials
Figure S1. Fluorodeoxyglucose avid lesions along brainstem and basal ganglia.