Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL, which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.
View Article and Find Full Text PDFA 43-year-old man presented with severe, saw-tooth pattern pain around the right eye that started with conjunctival injection, lacrimation and nasal discharge, lasting for about 1 hour, 4 months after the initial onset of lancinating pain in the same area. The patient was diagnosed with SUNCT (short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing) according to the International Classification of Headache Disorders 3rd edition (beta version). The symptoms improved in 2 months but recurred 6 months later.
View Article and Find Full Text PDFA 51-year-old man complained of continuous pain lasting about 3 weeks around his forehead and left orbit-locations where pain may indicate conjunctival injection and lacrimation. Upon arrival to our hospital, his neurological examination was normal, and brain MRI showed no abnormality. The headache disappeared with indomethacin treatment (75 mg/day), and a diagnosis of hemicrania continua (HC) was established according to the International Classification of Headache Disorders, 2nd Edition.
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