A 2-Year-Old Boy Is Brought to the Office for the First

A 2-year-old boy is brought to the office for the first time by his parents for a well visit.  The family recently moved to the area, and the child has not been seen for routine child care since age 12 months.  No complications occurred during pregnancy, and the patient was born full term.  At age 4 months, he was hypotonic; he did not sit unsupported until age 10 months.  Three months ago, the patient developed spasticity and dystonia with involuntary movements of the hands and feet.  Over the past month, he has started biting his fingers and hands, pinching himself, and banging his limbs against the wall.  Family history is unremarkable.  On examination, the patient is nonverbal and hypertonic.  There is hyperreflexia of the upper and lower extremities and extensor plantar reflexes bilaterally.  Several new and healing abrasions are present on the fingers and hands.  Which of the following is the most likely diagnosis in this patient?

A) Autism spectrum disorder
B) Cerebral palsy
C) Lesch-Nyhan syndrome
D) Phenylketonuria
E) Rett syndrome
F) Sydenham chorea
G) Tourette syndrome

Correct Answer:

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