Mohammed Quader Naseer¹*, Mohammed Afshar Alam¹, Seema Sunil Pulla², Iqra Hoor³ and Sai Balaji Dhayapule⁴

¹Medicine and Surgery, Ayaan Institute of Medical Sciences, Hyderabad, India
²Emergency Medicine, (HOD) Care Hospitals, Hyderabad, India
³Medicine and Surgery, Postgraduate (Pathology), Osmania Medical College, Hyderabad, India
⁴Emergency Medicine, Care Hospitals, Hyderabad, India

*Corresponding Author: Mohammed Quader Naseer, Medicine and Surgery, Ayaan Institute of Medical Sciences, Hyderabad, India.

Received: December 03, 2024; Published: January 31, 2025

Abstract

A rare case report illustrating an unusual and instructive case of acute ischemic stroke (AIS) in a 19-year-old male, attributed to vascular Ehlers-Danlos Syndrome (vEDS), a rare autosomal dominant genetic disorder affecting Type III collagen synthesis. The patient presented with acute right-sided hemiplegia and aphasia. Neuroimaging revealed an ischemic infarct in the left middle cerebral artery (MCA) territory, precipitated by a dissection of the left internal carotid artery (ICA). Genetic testing confirmed a pathogenic mutation in the COL3A1 gene, confirming vEDS. Early intervention, including thrombolysis and a tailored rehabilitation program, led to partial neurological recovery. This case underscores the critical importance of recognizing genetic disorders as underlying causes of ischemic strokes in young adults. We emphasize the necessity for a multidisciplinary approach to diagnosis, acute treatment, and prevention of recurrence in such patients.

 Keywords: Acute Ischemic Stroke; Vascular Ehlers-Danlos Syndrome; Collagen Disorders; Genetic Stroke Syndromes; Arterial Dissection

References

1. Naseer Q., et al. “Unilateral Intrathoracic Extramedullary Hematopoiesis: A Rare Case Report”. Acta Scientific Neurology 11 (2023).
2. Byers PH., et al. “Vascular Ehlers-Danlos Syndrome: Diagnosis and Management”. Genetics in Medicine (2020).
3. Pepin M., et al. “Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV”. NEJM (2000).
4. Pezzini A., et al. “Arterial Dissections as a Cause of Stroke in the Young”. Stroke Research and Treatment (2018).
5. Oderich GS., et al. “Management of Arterial Aneurysms in Patients with Ehlers-Danlos Syndrome”. Journal of Vascular Surgery (2005).
6. Malfait F., et al. “The 2017 International Classification of the Ehlers-Danlos Syndromes”. American Journal of Medical Genetics Part C (2017).
7. Bergqvist D., et al. “Arterial Complications in Vascular Ehlers-Danlos Syndrome”. European Journal of Vascular and Endovascular Surgery (2009).

Citation

Citation: Mohammed Quader Naseer., et al. “Acute Ischemic Stroke in a 19-Year-Old Male Due to a Rare Genetic Disorder of Collagen (Ehlers-Danlos Syndrome): A Rare Case Report”. Acta Scientific Neurology 8.2 (2025): 18-24.

Copyright

Copyright: © 2025 Mohammed Quader Naseer., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.