Current Medical Issues

: 2016  |  Volume : 14  |  Issue : 4  |  Page : 132--133

CME in Images

Tony Abraham Thomas 
 Department of Continuing Medical Education, Christian Medical College, Vellore, Tamil Nadu, India

Correspondence Address:
Tony Abraham Thomas
Christian Medical College, Vellore - 632 002, Tamil Nadu

How to cite this article:
Thomas TA. CME in Images.Curr Med Issues 2016;14:132-133

How to cite this URL:
Thomas TA. CME in Images. Curr Med Issues [serial online] 2016 [cited 2021 Sep 25 ];14:132-133
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Full Text

 Case Scenario

A 5-year-old boy with a history of mild mental retardation complained of difficulty in running and holding objects with his hands for 2 weeks. One examination, there were dysmorphic facial features, his head was slightly tilted to one side, and deep tendon reflexes were exaggerated in all the limbs. On further questioning, there was a history of a fall from a wall 1 month before onset of symptoms. An X-ray of the hands and magnetic resonance imaging (MRI) and three-dimensional reconstruction computerized tomography (CT) of the cervical spine are seen in [Figure 1] and [Figure 2].{Figure 1}{Figure 2}


What are the findings in the images?What is the possible diagnosis from the clinical scenario and radiological images?Why did the child develop neurological dysfunction?


 View Answer

X-ray shows hypoplasia of the middle phalanx of the fifth digits of both hands and clinodactyly of the fifth digits. The reconstructed CT image shows atlantoaxial dislocation. The MRI sagittal section shows compression of the cervicomedullary junction with T2-weighted changes within the cord at that levelDown's syndrome with atlantoaxial instability (AAI). Hypoplasia of the middle phalanx and clinodactyly of the fifth finger are seen in about 60% of individuals with Down's syndrome. [1] AAI is seen in about 13%-20% of those with Down's syndrome [2],[3]AAI refers to excessive mobility within the articular unit composed of the atlas, axis, and occiput along with the associated ligaments. AAI may be asymptomatic or may result in neurological dysfunction as the cervical cord is compressed by the abnormal movement of the atlas over the axis. Most are asymptomatic, but a small percentage of these individuals (about 3%) may present with symptoms such as neck pain, neck stiffness, and torticollis. [4],[5] Severe neurological symptoms such as loss of motor function, myelopathy, gait abnormalities, and loss of bowel or bladder control may be seen following trauma. Lateral and anteroposterior "open-mouth" X-rays of the cervical spine are useful screening tools to detect AAI. [4],[5] CT of the cervical spine provides much more detail than X-rays regarding bony abnormalities but must be used judiciously in children.

A child with Down's syndrome has lax ligaments and a higher incidence of vertebral anomalies when compared with normal children. Hence, there should be a higher suspicion of spinal cord injury after trauma in these individuals. Following an injury, the attending physician must closely examine the patient for signs and symptoms of neurological dysfunction and if present, a cervical collar must be applied and referred to a neurosurgeon immediately.

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Conflicts of interest

There are no conflicts of interest.


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2Hreidarsson S, Magram G, Singer H. Symptomatic atlantoaxial dislocation in Down syndrome. Pediatrics 1982;69:568-71.
3Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down syndrome: Epidemiologic, radiographic, and clinical studies. Pediatrics 1987;80:555-60.
4Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011;128:393-406.
5Ostermaier KK. Down syndrome: Management. Uptodate. Available from: [Last accessed on 2016 Oct 31].