Downbeat nystagmus and other characteristic ENG findings in a case with paraneoplastic cerebellar degeneration (PCD)

Abstract Background Paraneoplastic cerebellar degeneration (PCD) is a devastating paraneoplastic syndrome that occasionally occurs in patients with Hodgkin lymphoma (HL). Anti-Ma2 is a well-characterized onconeuronal antibody and one of the causes of PCD. There has been only one previous report of anti-Ma2-associated paraneoplastic syndrome as a complication of HL. Here we present a rare case of anti-Ma2-associated PCD in a patient with nodular lymphocyte-predominant HL (NLPHL). Case presentation A 77-year-old man with a 3-month history of gait instability and a 2-month history of oscillopsia was referred to our hospital for further investigation. On examination, his cognition was normal. He had nystagmus in all directions of gaze; specifically, he had horizontal and rotatory nystagmus in the primary position, downbeat nystagmus after right, left, and up gaze, and upbeat nystagmus after down gaze. Although his limb ataxia was mild, his trunk ataxia was so pronounced that he was unable to walk without support. We strongly suspected paraneoplastic syndrome and tested for neuronal autoantibodies. The anti-Ma2 antibody was strongly positive in the blood and cerebrospinal fluid but other antineuronal autoantibodies were negative. Computed tomography showed an enlarged lymph node in the right axilla but no masses. Biopsy confirmed a diagnosis of NLPHL. The NLPHL cells stained with anti-Ma-2 antibody in the cytoplasm, suggesting these abnormal cells contained protein that was cross-reactive with Ma-2. Conclusions To the best of our knowledge, this is the first case of anti-Ma2-associated PCD in a patient with NLPHL that was confirmed using immunostaining of the lymph node tissue with anti-Ma2 antibody. Our case confirms an association between anti-Ma2-associated PCD and NLPHL.

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Downbeat Nystagmus

Neuro-Ophthalmology ◽

10.1093/med/9780190603953.003.0027 ◽

2019 ◽

pp. 145-150

Author(s):

Matthew J. Thurtell ◽

Robert L. Tomsak

Keyword(s):

Medical Treatment ◽

Treatment Options ◽

Cerebellar Degeneration ◽

Common Type ◽

Paraneoplastic Cerebellar Degeneration ◽

Downbeat Nystagmus ◽

Vestibular Nystagmus ◽

Blurred Vision ◽

Common Causes ◽

The Common

Downbeat nystagmus is a common type of central vestibular nystagmus that often produces oscillopsia or blurred vision. It is a vertical jerk-waveform nystagmus with upward slow phases and downward quick phases. In this chapter, we begin by reviewing the clinical features of downbeat nystagmus. We next list the common causes for downbeat nystagmus, which include inherited cerebellar degenerations, acquired cerebellar degenerations, congenital hindbrain anomalies, stroke, tumors, and medications. We then discuss the workup and management of paraneoplastic cerebellar degeneration, which is most commonly associated with cancers of the lung, ovary, and breast. Lastly, we review medical treatment options for downbeat nystagmus.

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