JOURNAL OF RARE DISEASES 2024;3(2):224-231

doi:10.12376/j.issn.2097-0501.2024.02.011

Aphasia in Right Hemiparesis and Pain in Left Waist:A Deceiving Case in Vascular Ehlers-Danlos Syndrome

Yining FU 1 ; Jingmin ZHOU ; Feng LI ; Shangzhi HUANG ; Yining WANG ; Xia HONG ; Ke LYU ; Yaping LIU ; Ling LENG ; Wenjie ZHENG ; Zhengqing QIU ; Yicheng ZHU ; Yuehong ZHENG ; Yuexin CHEN

Affiliations

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Keywords

rare diseases; systemic vasculitis; vascular Ehlers-Danlos syndrome; multidisciplinary team

Country

China

Language

Chinese

Abstract

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder.The prev-alence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand.The vascular EDS(vEDS)are rare among the subtypes but are the worst in prognosis.The article reports a case of vEDS admitted to the hospital.The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons.The diagnosis was made after the genetic testing.The patient suffered from vEDS.Then,the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient.The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging.This article hopes to report this case and to share the experiences to the bet-ter understanding of this disease.