RESUMO
Spinocerebellar ataxias (SCAs), formerly known as autosomal dominant cerebellar ataxia, are a group of hereditary heterogeneous neurodegenerative disease that contains many subtypes. Spinocerebellar ataxia type 23 (SCA23), one type of SCAs, is caused by mutant prodynorphin (PDYN) gene. A 22-year-old patient was diagnosed with sporadic SCA23 due to gene detection, with a novel identified mutation, PDYN c.647C>T (p.P216L). Located in the dynorphin A-coding-region of PDYN gene, the pathogenic mechanism of the mutation may be relevant to the pathological changes caused by the variant including neurological dysfunction and death of cells. Mild improvement with the patient has been witnessed after active balance and speaking exercise.
RESUMO
Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post-circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over-extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29-year-old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C1-C2 vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.
RESUMO
Bow hunter′s syndrome, also known as vertebral basilar artery insufficiency, is a rare disease characterized by post?circulation blood supply insufficiency caused by mechanical or stenosis of the vertebral artery when the head and neck rotate or over?extend. To date, few cases regarding the bilateral hunter′s bow syndrome concurrent with epilepsy have been reported. A 29?year?old man was admitted to the First Hospital of Jilin University due to seizures. Results from transcranial Doppler ultrasound and carotid ultrasound showed that the patient had bilateral hunter′s bow syndrome. Further imaging examination showed that the syndrome was caused by congenital bone fusion which resulted in mechanical occlusion of C1-C2 vertebral artery. This case indicates that seizures are closely related to hunter′s bow syndrome.