Intended for healthcare professionals

Endgames Case Review

Proximal muscle weakness and skin rash

BMJ 2018; 363 doi: https://doi.org/10.1136/bmj.k3614 (Published 04 October 2018) Cite this as: BMJ 2018;363:k3614
  1. Ramachandiran Nandhagopal, associate professor, neurologist1,
  2. Suad Al-Jahdhami, consultant histopathologist and neuropathologist2,
  3. Arunodaya R Gujjar, professor, neurologist1
  1. 1Department of Medicine, Neurology unit, Sultan Qaboos University Hospital, Muscat, Oman
  2. 2Department of Pathology, Sultan Qaboos University Hospital, Muscat, Oman
  1. Correspondence to R Nandhagopal rnandagopal{at}yahoo.com

A 34 year old woman presented with a 9 day history of progressive proximal bilateral limb weakness and mild dysphagia with fluids. On examination, she had a peri-orbital rash (fig 1). Neurological findings included moderately severe (grade 3-4/5) bilateral proximal limb and neck flexor weakness with preserved deep tendon reflexes and sensation.

Fig. 1

Peri-orbital rash

Her laboratory test findings were

  • - Serum creatine kinase of 35 766 U/L (reference range: 26-192 U/L)

  • - Positive anti nuclear matrix protein 2 antibody

  • - Weakly positive anti-nuclear antibody (1 in 80 titre) and negative anti-double stranded DNA antibody.

Fat suppressed magnetic resonance imaging (MRI) of the thigh muscles showed abnormal signals (hyperintensities) of the lateral, medial, and anterior compartments (fig 2).

Fig. 2

Magnetic resonance imaging (MRI) (fat suppressed short tau inversion recovery image) of the thigh muscles. (Left) Coronal section, (right) axial section

Needle electromyography of the proximal arm and leg muscles showed fibrillation, positive sharp waves, and early recruitment of volitional motor unit potentials.

Questions

  • 1. What is the diagnosis?

  • 2. How would you manage this condition?

  • 3. What is the relevance of the positive anti nuclear matrix protein 2 antibody?

Answers

1. What is the diagnosis?

Dermatomyositis—an inflammatory disorder involving the skin and muscles. Figure 1 shows dusky bilateral erythematous macular rashes in the slightly swollen peri-orbital regions. This is a heliotrope rash and is characteristic of dermatomyositis.12 The patient’s proximal limb weakness, mild dysphagia, preserved deep tendon reflexes, elevated creatine kinase, MRI findings (fig 3), and needle electromyography findings are also suggestive of myopathy.34

Fig. 3

Magnetic resonance imaging (MRI) (fat suppressed short tau inversion recovery image) of the thigh muscles. (Left, A) Coronal section, (B, right) axial section. Hyperintensities (stars) …

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