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| CME IN IMAGES |
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| Year : 2016 | Volume
: 14
| Issue : 4 | Page : 132-133 |
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CME in Images
Tony Abraham Thomas
Department of Continuing Medical Education, Christian Medical College, Vellore, Tamil Nadu, India
| Date of Web Publication | 22-Nov-2016 |
Correspondence Address:
Tony Abraham Thomas
Christian Medical College, Vellore - 632 002, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0973-4651.194479
How to cite this article:
Thomas TA. CME in Images. Curr Med Issues 2016;14:132-3 |
| 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 2: (a) Computerized tomography of the cervical spine with three-dimensional reconstruction. (b) Magnetic resonance imaging of the cervical spine
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| Questions | | |
- 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?
| Answers | | |
 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 level
- Down'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.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Benacerraf BR, Harlow BL, Frigoletto FD Jr. Hypoplasia of the middle phalanx of the fifth digit. A feature of the second trimester fetus with Down′s syndrome. J Ultrasound Med 1990;9:389-94.  |
| 2. | Hreidarsson S, Magram G, Singer H. Symptomatic atlantoaxial dislocation in Down syndrome. Pediatrics 1982;69:568-71. |
| 3. | Pueschel SM, Scola FH. Atlantoaxial instability in individuals with Down syndrome: Epidemiologic, radiographic, and clinical studies. Pediatrics 1987;80:555-60. |
| 4. | Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011;128:393-406. |
| 5. | |
[Figure 1], [Figure 2]
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