Cerebellar ataxia and sensory ganglionopathy associated with light-chain myeloma

Panagiotis Zis,Nigel Hoggard,Dasappaiah Ganesh Rao,Marios Hadjivassiliou,Bart E Wagner,Lucinda Nicholson-Goult

doi:10.1186/s40673-016-0060-4

Abstract

BackgroundCerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity. Individually each condition can be a classic paraneoplastic neurological syndrome. We report a patient with this combination who was diagnosed with light-chain myeloma ten years after initial presentation.Case presentationA 65-year-old Caucasian lady was referred to our Ataxia Clinic because of a 6-year history of progressive unsteadiness and a 2-year history of slurred speech. Past medical history included arterial hypertension. The patient was a non-smoker was not consuming alcohol excessively. There was no family history of ataxia.Neurological examination revealed prominent gaze-evoked nystagmus, heel to shin ataxia, gait ataxia, reduced reflexes and loss of vibration sensation in the legs.Cerebellar ataxia was confirmed using magnetic resonance spectroscopy of the cerebellum and sensory ganglionopathy using neurophysiological assessments including blink reflex study. A muscle biopsy that was arranged to explore the possibility of mitochondrial disease revealed amyloidosis. Urinalysis confirmed the presence of light chains. A bone marrow biopsy confirmed the diagnosis of light chain multiple myeloma.ConclusionsWhilst it could be argued that this could simply be a coincidence, the rarity of these conditions and the absence of an alternative aetiology for the neurological dysfunction argue in favour of a paraneoplastic phenomenon.

Highlights

Cerebellar ataxia with sensory ganglionopathy is a rare neurological combination that can occur in some hereditary ataxias including mitochondrial diseases and in gluten sensitivity
Cerebellar ataxia combined with sensory neuronopathy is a relatively rare neurological picture, which can be seen in some hereditary ataxias [2] (e.g. Friedreich’s ataxia and SCA18, mitochondrial disease) or as a result of exposure to toxins
As the combination of cerebellar ataxia with sensory ganglionopathy can be seen as part of hereditary ataxias, including mitochondrial diseases, the patient was initially tested and was negative for the common genetic ataxias (Fridriech’s ataxia, SCA1, SCA2, SCA3, SCA6 and SCA7)

Summary

Conclusions

To our knowledge this is the first case of cerebellar ataxia with sensory ganglionopathy associated with light chain myeloma. Whilst it could be argued that this could be a coincidence, the rarity of these conditions and the absence of an alternative aetiology for the neurological dysfunction argues in favour of a paraneoplastic phenomenon. As the myeloma in this case is not curable the chances of recovery with chemotherapy are remote. On the latest MR imaging there is significant progression of the spectroscopic abnormalities as well as the development of cerebellar atrophy. CMAP; compound muscle action potential, SNAP; sensory nerve action potential, L; Left, R; Right, NR; no response, X; not done Median and ulnar studies - orthodromic, radial, peroneal and sural - antidromic cR2 = contralateral R2; iR2 = ipsilateral R2.

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