Young Girl With Clumsiness, Dystonia, and Speech Difficulty

Sidra Aurangzeb, MBBS; Muhammad Tariq, MRCP, FRCP, FRCPE


June 24, 2015

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A 17-year-old girl with multiple symptoms is brought to an outpatient clinic by her parents. Her parents have noticed that she has developed slowly progressive clumsiness over the past 6 months. She now displays dystonic movement of all of her limbs. In addition, her speech and ability to walk have been deteriorating over several months. She was also recently noted to have excessive salivation.

There is no history of fever, headache, focal weakness, visual changes, bladder dysfunction, convulsions, or trauma. The patient has had no recent travel and no history of animal bites or known toxic exposures.

One year ago, the patient had jaundice that persisted for 4 months and then spontaneously resolved. A medical workup at that time did not reveal a clear etiology for the jaundice, nor evidence of liver failure, such as coagulopathy, ascites, or altered mental status. She is otherwise healthy, with no chronic medical conditions, and the family history is unremarkable.

The patient is the third child of a nonconsanguineous marriage. Her birth history is unremarkable, and she has met the normal developmental milestones. She denies the use of any medications, alcohol, or recreational drugs.


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