Objective: Report the first case of hyperekplexia caused by neurosyphilis.

Background: Hyperekplexia is an exaggerated startle reflex appreciated when auditory, tactile, or visual stimuli causes symmetric and synchronous muscle activation. This leads to uncontrollable eye closure, flexion of the torso, hips, knees, and abduction of the shoulders. This reflex results from lack of inhibition by higher centers relayed in the caudal brainstem where bulbospinal motor efferents originate. It has been mistaken as epilepsy as well as a psychogenic movement disorder due to its rarity. Structural etiology is typically from demyelination or ischemia and if non-structural, can arise from alterations in glycine receptors. The differential ranges from autoimmune, paraneoplastic, infectious, and genetic causes.

Method: Review of hyperekplexia utilizing PubMed and Google Scholar.

Results: A 45-year-old man with a history of HIV on HAART therapy presented for progressive bilateral limb jerking and pain that has been present for a month. On initial physical exam, he had rhythmic, synchronous jerking of bilateral upper extremities and pain worse when lying supine. He exhibited diffuse spasticity, decreased strength, hyperreflexia with sustained clonus, loss of proprioception to the elbows and knees as well as exhibiting a positive snout and glabellar reflex. The jerking of the bilateral upper extremity was present upon tapping on the patient’s abdomen as well as auditory stimuli via clapping.

            EEG did not demonstrate epileptic activity while stimuli were introduced, and limb jerking was appreciated. MRI of the brain and cervical spine did not illustrate abnormal enhancement or areas of acute ischemia and the only abnormality was an old area of ischemia to the right Rolandic cortex. Lumbar puncture revealed elevated pleocytosis to 142 with lymphocytic predominance and elevated protein to 137. A comprehensive autoimmune panel and infectious panel all returned negative except for a positive serum RPR. Due to no current active symptoms and reports of never being treated for syphilis, penicillin therapy was initiated. Given that his physical exam was significant for hyperekplexia, he was started on clonazepam. After treatment of syphilis, he was successfully weaned from clonazepam with complete return to baseline.

Conclusion: We report an extremely rare case of neurosyphilis causing symptomatic hyperekplexia, which to our knowledge has not been reported.

References: 1. Praveen V, Patole SK, Whitehall JS. Hyperekplexia in neonates. Postgraduate Medical Journal 2001;77:570-572.
2. Mirte J Bakker, J Gert van Dijk, Arn MJM van den Maagdenberg, Marina AJ Tijssen. Starle syndromes, The Lancet Neurology, Volume 5, Issue 6, 2006, Pages 513-524, ISSN 1474-4422, https://doi.org/10.1016/S1474-4422(06)70470-7.
3. Nayak S, Acharjya B. VDRL test and its interpretation. Indian J Dermatol. 2012 Jan;57(1):3-8. doi: 10.4103/0019-5154.92666. PMID: 22470199; PMCID: PMC3312652.
4. Ghanem KG, Moore RD, Rompalo AM, Erbelding EJ, Zenilman JM, Gebo KA. Neurosyphilis in a clinical cohort of HIV-1-infected patients. AIDS. 2008 Jun 19;22(10):1145-51. doi: 10.1097/QAD.0b013e32830184df. PMID: 18525260; PMCID: PMC2553365.

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