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Old 06-30-2012
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Question Ataxic Down Syndrome Patient!

A 6-year-old female with Down syndrome is brought to the physician for behavioral changes. Over the past few weeks, she has begun refusing to do her usual activities. Her parents also report that she seems dizzy and state that she has developed urinary incontinence. On examination, she is hypotonic but hyperreflexic with a positive Babinski reflex. Her gait is ataxic Which of the following is the most likely diagnosis?

A. Alzheimer disease
B. Atlantoaxial instability
C. Hypothyroidism
D. Mental retardation
E. Spinal cord infarction
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Old 06-30-2012
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atlanto axial instability??
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Old 07-01-2012
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B. Atlantoaxial instability( UMN symptoms)
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Old 07-01-2012
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B. Atlantoaxial instability

Quote:
Suspect atlantoaxial instability in an individual with Down syndrome who presents with decreased motor skills or who develops torticollis, a gait disorder, or any form of progressive paralysis. Although the compression is in the high cervical spine, the first motor symptoms or signs may be discovered in the legs.

Signs
Motor system abnormalities are the most common findings at clinical presentation (primarily gait disorders and weakness).

Babinski sign and clonus in the lower extremities are not seen in healthy children with Down syndrome. If these signs are present, they should be considered abnormal. Progressive spasticity in the legs (characterized by increased muscle tone, muscle weakness, ataxic gait, increased deep tendon reflexes, Babinski sign, and clonus) can be a presenting sign.
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