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Multiple system atrophy mimicked by multi-organ pathology
  1. Sana Khan1,
  2. Gnanamurthy Sivakumar2,
  3. Stuart Currie3,
  4. Jane Alty4
  1. 1School of Medicine, University of Leeds, Leeds, UK
  2. 2Department of Neurosurgery, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  3. 3Department of Neuroradiology, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  4. 4Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK
  1. Correspondence to Dr Jane Alty, Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK; jane.alty{at}nhs.net

Abstract

Both multiple system atrophy and Parkinson’s disease may present with parkinsonism and autonomic dysfunction. We describe a patient who initially met the diagnostic criteria for multiple system atrophy and had atypical features for Parkinson’s disease including blackouts and pyramidal signs. Ultimately, he was found to have three separate diagnoses rather than a single unifying one.

  • clinical neurology
  • Parkinson's disease
  • Autonomic
  • Spinal tumour
  • multiple system atrophy
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Introduction

The diagnostic criteria for probable multiple system atrophy include: an adult-onset progressive disease characterised by autonomic failure (orthostatic hypotension of >30/15 mm Hg after 3 min, or urinary incontinence with erectile dysfunction) plus a poorly dopa-responsive parkinsonism or cerebellar syndrome. Supportive features include hyper-reflexia and Babinski sign.1

Case history

A 67-year-old man presented with a 1-year history of slowed gait. He had an 8-year history of erectile dysfunction and a pulmonary embolus 3 years previously. On examination, he had bilateral parkinsonism, brisk lower limb reflexes, bilaterally positive Babinski signs and postural hypotension (142/87 mm Hg sitting; 110/70 mm Hg after 3 min of standing). Three months later, he developed postural blackouts, both when sitting or standing. There was no significant improvement in walking speed or parkinsonism after 6 months of levodopa (levodopa equivalent daily dose2 780 mg/day). We made the diagnosis of probable multiple system atrophy.

Owing to his frequent blackouts, we referred him for cardiac investigations. Ambulatory ECG recording identified periods of complete heart block and his sudden-onset blackouts stopped after pacemaker implantation. He still had a tendency to episodic postural presyncopal symptoms, with very occasional subsequent loss of consciousness but his postural hypotension was generally well controlled with increased fluid and salt intake.

Since he no longer met the criteria for autonomic failure, and there was no significant neurological deterioration over 18 months of follow-up, we reconsidered the diagnosis of multiple system atrophy. We requested an MR scan of the spine to investigate alternative causes of his lower limb pyramidal signs; this identified a spinal tumour at the level of T12/L1 (figure 1). The tumour progressively increased in size on radiological surveillance, prompting surgery. The tumour was successfully resected, and histology confirmed a grade 1 schwannoma. This benign nerve sheath tumour is usually solitary, sporadic and discovered incidentally but may present with radicular pain. They rarely cause motor symptoms as they usually grow within sensory nerve roots.

Figure 1

MR scan of spine (T1-weighted gadolinium-enhanced) sagittal (A) and axial (B) showing an intradural extramedullary avidly enhancing tumour at the T12/L1 level (arrows). The tumour compresses and displaces the conus to the left.

We gradually increased his levodopa dose to a total levodopa equivalent daily dose of 910 mg/day, resulting in a sustained reduction in parkinsonism with no significant deterioration in hypotension over 4 years of follow-up. He remains active and regularly walks 5 miles per day.

Conclusion

We conclude that this patient had three comorbidities that had mimicked multiple system atrophy: idiopathic Parkinson’s disease with postural hypotension, complete heart block and a spinal tumour. Some people with Parkinson’s disease have prominent autonomic dysfunction, even in the early stages. In early Parkinson’s disease, 40% have orthostatic symptoms and 56% have erectile dysfunction.3 This case highlights the importance of continuing to question a previously ‘confirmed’ diagnosis and demonstrates the need for clinicians to weigh up possible alternative differential diagnoses based on whether we ‘lump or split’ clinical symptoms and signs.

Key messages

  • Autonomic dysfunction may occur in early Parkinson’s disease; this can make it difficult to discriminate from early multiple system atrophy.

  • Diagnostic acumen requires clinicians to consider ‘splitting’ rather than ‘lumping’ clinical features even if they are temporally associated.

References

View Abstract

Footnotes

  • Twitter @janealty1

  • Contributors SK wrote the first draft, contributed to revisions and obtained consent; JA conceived the idea and contributed to revisions; GS contributed to revisions; SC wrote figure legends and provided formatted images.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests JA has previously been awarded grants by Parkinson’s UK, Ipsen, UCB Foundation, Merz, Medtronic, Bial and AbbVie; received honoraria from Allergan and Medical Update Ltd and been on expert advisory boards for Merz and AbbVie. She has stock ownership in Clear Sky Diagnostics. She receives royalties from Taylor & Francis Group for medical textbooks she has coauthored.

  • Patient consent for publication Obtained

  • Provenance and peer review Not commissioned. Externally peer reviewed by Donald Grosset, Glasgow, UK.

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