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Discussion Starter · #1 ·
A 4-year-old boy is discovered to have an IQ of 60 and is referred to a pediatrician. His mother reports that he was born 5 weeks premature by spontaneous vaginal delivery after an uncomplicated pregnancy. His developmental history is notable for initially sitting at 9 months, saying his first word at 16 months, walking at 19 months, and climbing up stairs at 3.5 years. He plays cooperatively with the other children. On physical examination, he is cooperative with the examiner, responding in three-word sentences. He walks on his tiptoes with a scissored gait. His legs are hypertonic bilaterally with brisk patellar reflexes; he has ankle clonus and upgoing toes bilaterally. What is the most likely diagnosis?
(A) Autism
(B) Cerebral palsy
(C) Down’s syndrome
(D) Duchenne’s muscular dystrophy
(E) Fragile X syndrome
 

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Discussion Starter · #2 ·
It's UMN Lesion

The hyperreflexia and hypertonia mentioned in the vignette points to an upper motor neurone lesion. Only Cerebral Palsy is UMN and none of the others.

This is a CK question that definitely looking at our Step 1 backgrounds :cool:
 

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Based on the clues given in the question

1. He interacts well with peers, so can't be autism of fragile X (A or E)
2. He can climb stairs well so can't be Duchenne's (D)
3. The tiptoed scissored gait and bilat. hypertonia like was mentioned points to UMN so it can't be Down's syndrome, so the only thing left is Cerebral Palsy, B.
 
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