TELL : +91 0 99 08 87 07 06

 Mcmed International ®: Largest Journal Publication in world

International Journal of Advances In Case Reports

Volume 11, Issue 1, 2024
Mcmed International
International Journal of Advances In Case Reports
Issn
XXX-XXXX (Print), 2349 - 8005 (Online)
Frequency
bi-annual
Email
editorijacr@mcmed.us
Journal Home page
http://mcmed.us/about/ijacr
Recommend to
A Friend  | A librarian
Purchase
Purchase Issue
Abstract
Title
CORRECT DIAGNOSIS CHANGES CHILD’S LIFE: CASE REPORT OF DOPA-RESPONSIVE DYSTONIA (DRD)
Author
Ghiath Ismayl*, Essam A. Elgamal, Omar Ismayl
Email
U00033002@sharjah.ac.ae
keyword
Dystonia; Cerebral palsy; Gait disturbances; Genetics.
Abstract
Dopa-responsive dystonia (DRD) classically presents as limb-onset, diurnally fluctuating dystonia that has a clear and sustained response to levodopa. The most common cause is mutation in the GTP cyclohydrolase I gene (GCH1). However, due to the heterogeneity of conditions that underlie DRD, it is frequently misdiagnosed, which delays the appropriate treatment with Levodopa. In this report we present a 5-year old boy who was misdiagnosed to have Cerebral Palsy (CP). He struggled in maintaining his gait during the day to a degree that he was crawling in the afternoon. He was obligated to attend a school for the special need. Once the proper diagnosis of DRD was reached and treatment was initiated, he showed a dramatic improvement and was able to return back to his former school. DRD is a rare, easily missed disease which should be considered when a child presents with cerebral palsy-like patterns, walking difficulties, spasticity or dystonia, with a characteristic diurnal variation, normal brain MRI scan, and in the absence of history of perinatal asphyxia. We present this incidence to emphasize on the importance of keeping DRD within our differential diagnosis when dealing with similar cases.
Download Broucher
Back to Top >>>>