J Korean Med Sci.  2011 Apr;26(4):587-591. 10.3346/jkms.2011.26.4.587.

Carrier Woman of Duchenne Muscular Dystrophy Mimicking Inflammatory Myositis

• Yoon J
• Kim SH
• Ki CS
• Kwon MJ
• Lim MJ
• Kwon SR
• Joo K
• Moon CG
• Park W

• KMID: 1777894
• DOI: http://doi.org/10.3346/jkms.2011.26.4.587

Abstract

Carrier woman of Duchenne muscular dystrophy (DMD) can mimic the inflammatory myositis in presenting symptoms. Two diseases should be differentiated by the clinical history, muscle biopsy and genetic study. There are few reports in which both histochemical and genetic study showed the possible link of overlapping inflammatory pathophysiology with dystrophinopathy. We report a 40-yr-old woman who presented with subacute proximal muscle weakness and high serum level of creatine kinase. She had a history of Graves' disease and fluctuation of serum liver aminotransferase without definite cause. MRI, EMG and NCV were compatible with proximal muscle myopathy. Muscle biopsy on vastus lateralis showed suspicious perifascicular atrophy and infiltration of mono-macrophage lineage cells complicating the diagnosis. Dystrophin staining showed heterogeneous diverse findings from normal to interrupted mosaic pattern. Multiple ligation probe amplification and X chromosome inactivation test confirmed DMD gene deletion mutation in exon 44 and highly skewed X inactivation.

Keyword

Muscular Diseases; Muscular Dystrophy, Duchenne; Carriers State

MeSH Terms

Adult
Creatine Kinase/blood
Diagnosis, Differential
Dystrophin/metabolism
Echocardiography
Exons
Female
Heterozygote
Humans
Magnetic Resonance Imaging
Muscle Weakness
Muscular Dystrophy, Duchenne/*diagnosis/genetics/pathology
Myositis/diagnosis/genetics/pathology
Transaminases/blood

Figure

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  Fig. 1 Muscle biopsy specimen of right vastus lateralis muscle. It shows variable sized muscle fiber, fatty infiltration, perimysial fibrosis, focal inflammatory infiltrates with the suspicious area of perifascicular atrophy in low power (A) and high power view (B). Perimysial atrophy mimicking dermatomyositis are also shown (C). Also regenerating fibers with inflammatory infiltration was shown (D, E). Dystrophin staining showed variable different staining pattern from normal to interruped mosaic pattern (F). Inflammatory cells are mainly macrophage-lineages on LCA (G), CD 68 (H) special staining with rarety of CD 4 and CD 8 positive cells (not shown).

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  Fig. 2 X chromosome inactivation (XCI) analysis in this patient. After digestion with HpaII, a PCR product is obtained from the inactive X chromosome. Highly skewed X chromosome inactivation is found with ratio of 19:81 compared to positive control.

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