AI Article Synopsis
- A woman in her 30s with dysferlinopathy initially had her diagnosis complicated by hypothyroidism and elevated serum creatine kinase levels.
- Laboratory tests showed Hashimoto's thyroiditis, and while tests like electromyography suggested hypothyroid myopathy, treatment with thyroxine did not improve her condition.
- A muscle biopsy indicated the absence of dysferlin, confirming limb-girdle muscular dystrophy type IIB, highlighting the importance of immunohistochemical staining and genetic testing in diagnosing complex myopathies.
Article Abstract
We report a woman in her 30s with dysferlinopathy whose diagnosis was masked by superimposed hypothyroidism. Laboratory studies revealed Hashimoto's thyroiditis and markedly raised serum creatine kinase (CK of 6255 U/L; reference range 0-170 U/L). Electromyography, nerve conduction studies and MRI of the hip and thigh were consistent with a diagnosis of hypothyroid myopathy, but thyroxine failed to resolve her clinical presentation or normalise the CK level. Immunohistochemical (IHC) staining of right vastus lateralis muscle biopsy revealed the selective absence of dysferlin leading to a diagnosis of limb-girdle muscular dystrophy type IIB. Dysferlinopathy is a challenging diagnosis due to a varied clinical picture and low incidence. Misdiagnosis is common even in uncomplicated presentations, and this case outlines the need for routine inclusion of IHC and a low threshold for genetic testing, in the workup of complex myopathy.
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| http://dx.doi.org/10.1136/bcr-2024-260986 | DOI Listing |
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