[Beta-propeller protein-associated neurodegeneration (BPAN) associated with heper-CKemia-case report].
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Beta-propeller protein-associated neurodegeneration (BPAN) is a neurodegeneration with brain iron accumulation (NBIA) disorder caused by autophagy abnormalities. Clinical features of BPAN include global developmental delay in early childhood, followed by progression of cognitive dysfunction and parkinsonism in adulthood. A 32-year-old woman diagnosed with BPAN and confirmed by genetic analysis showed motor symptoms that rapidly progressed after the age of 30 years. Baclofen was administered for spasticity, though a high fever and elevated serum CK level were observed, and the symptoms persisted for several months even after stopping the drug. It was suspected that rhabdomyolysis have been due to muscle tissue fragility associated with autophagy impairment in BPAN, in combination with increased muscle tone.