A 5-Year-Old Girl Is Brought to the Emergency Department with Sudden-Onset

question 419

Multiple Choice

A 5-year-old girl is brought to the emergency department with sudden-onset weakness on her left side and slurred speech.  She was sitting on the floor at home playing with her toys when she lost her balance and toppled over.  Her father caught her and she did not hit her head.  The patient has a history of developmental delay and "eye problems," for which she has been seen by an ophthalmologist.  She has no other chronic medical conditions.  She takes no medications and has no known allergies.  Vital signs are normal.  Weight is at the 5th percentile and height is at the 90th percentile.  Examination shows an alert, fair-skinned, blue-eyed girl.  She has long, thin arms and legs and a decreased upper-to-lower segment ratio.  Left upper and lower deep-tendon reflexes are brisk; Babinski sign is upgoing on the left side.  Joint hyperlaxity and skin hyperelasticity are also seen.  Which of the following is the most likely diagnosis in this patient?

• A)Ehlers-Danlos syndrome
• B)Fabry disease
• C)Homocystinuria
• D)Krabbe disease
• E)Marfan syndrome
• F)Phenylketonuria
• G)Tay-Sachs disease

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