Down syndrome (Trisomy 21) Quiz: Ace Your Exams

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A 7-year-old girl with a history of Down syndrome is evaluated in the clinic because of lower extremity weakness. Over the past few months, she has stopped running and has accidentally knocked over furniture multiple times. She was toilet trained by the age of 5 years, but she recently lost control of her bladder and has had to wear diapers again. The patient also reports pins and needle sensation in the hands and feet. Vitals are within normal limits. Physical examination shows an ataxic gait and decreased muscle tone throughout. Deep tendon reflexes of the knee and ankle are hyperactive and proprioception of the feet is decreased bilaterally. Babinski reflex is present bilaterally. Urinalysis is shown:
 
 Laboratory value  Result 
 Urinalysis 
 Color  Clear 
 Specific gravity  1.013 
 Glucose  Negative 
 Blood  Negative 
 Leukocyte esterase  Negative 
 Nitrites  Negative 
 Leukocytes  1-2/hpf 
 Erythrocytes  1-2/hpf 
 Dysmorphic RBCs  Absent 
 Casts  None 

Which of the following is the most likely cause of this patient’s presentation?

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