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Case Report
Online Published: 30 Apr 2025
 


A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation

Talha Ustuntas, Saliha Yavuz Eravcı, Burcu Caliskan, Ahmet Sami Guven, Huseyin Caksen.


Abstract
Atlantoaxial subluxation (AAS), while uncommon in the general population, occurs more frequently in children with Down syndrome (DS). This association is attributed to the presence of connective tissue laxity, which affects approximately 15-20% of individuals with DS. A 12-year-old female patient with known classical DS presented to a healthcare institution with complaints of vomiting and inability to walk. Physical examination revealed moderate to severe intellectual disability and limited verbal communication. Facial features included DS characteristics such as low-set ears and a flattened nasal bridge. Neurologic examination demonstrated weakness in the left upper and lower limbs (1-2/5 on muscle strength testing), increased deep tendon reflexes on the left side, and an extensor plantar response (Babinski sign). Neuroimaging studies revealed no cranial abnormalities. Brain MRI, however, demonstrated an increased atlantoaxial joint distance (10 mm) on the sagittal image, suggestive of AAS. Additionally, the MRI showed anterior compression of the odontoid process on the spinal cord, indicating potential for spinal cord compression. While cerebrovascular events are the most common cause of hemiparesis, health professionals should keep in mind AAS as a potential culprit in DS patients with limited communication and cognitive abilities. In such cases, prompt investigation and evaluation are essential, as early surgical intervention can significantly improve outcomes and prevent permanent neurological damage. This case highlights the importance of considering the specific needs and challenges faced by DS patients in the diagnostic and therapeutic process.

Key words: down syndrome, atlantoaxial subluxation, hemiparesis, neuroimaging


 
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How to Cite this Article
Pubmed Style

Ustuntas T, Eravcı SY, Caliskan B, Guven AS, Caksen H. A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudan J Paed. Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418

Web Style

Ustuntas T, Eravcı SY, Caliskan B, Guven AS, Caksen H. A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. https://sudanjp.com//?mno=236540 [Access: April 30, 2025]. doi:10.24911/SJP.106-1736272418

AMA (American Medical Association) Style

Ustuntas T, Eravcı SY, Caliskan B, Guven AS, Caksen H. A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudan J Paed. Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418


Vancouver/ICMJE Style

Ustuntas T, Eravcı SY, Caliskan B, Guven AS, Caksen H. A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudan J Paed, [cited April 30, 2025]; Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418


Harvard Style

Ustuntas, T., Eravcı, . S. Y., Caliskan, . B., Guven, . A. S. & Caksen, . H. (2025) A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudan J Paed, Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418


Turabian Style

Ustuntas, Talha, Saliha Yavuz Eravcı, Burcu Caliskan, Ahmet Sami Guven, and Huseyin Caksen. 2025. A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudanese Journal of Paediatrics, Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418


Chicago Style

Ustuntas, Talha, Saliha Yavuz Eravcı, Burcu Caliskan, Ahmet Sami Guven, and Huseyin Caksen. "A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation." Sudanese Journal of Paediatrics Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418


MLA (The Modern Language Association) Style

Ustuntas, Talha, Saliha Yavuz Eravcı, Burcu Caliskan, Ahmet Sami Guven, and Huseyin Caksen. "A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation." Sudanese Journal of Paediatrics Online First: 30 Apr, 2025. Web. 30 Apr 2025 doi:10.24911/SJP.106-1736272418


APA (American Psychological Association) Style

Ustuntas, T., Eravcı, . S. Y., Caliskan, . B., Guven, . A. S. & Caksen, . H. (2025) A Challenging Diagnosis In a Down Syndrome Child Presenting with Hemiparesis: Atlantoaxial Subluxation. Sudanese Journal of Paediatrics, Online First: 30 Apr, 2025. doi:10.24911/SJP.106-1736272418




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