Case 1: Weakness and Gait Instability in a 4-year-old Girl

Presentation

A 4-year-old girl from rural North Carolina presents to an outpatient clinic after 2 successive emergency department (ED) evaluations for sudden-onset difficulty walking. Symptoms began the morning of her initial ED presentation when her parents noticed stumbling and gait incoordination. Her symptoms progressed rapidly to overt lower extremity weakness, culminating in an inability to stand. She was walking normally the night previously. The patient has a history of epilepsy. Her first seizure occurred at 2 years old. She had been treated in the past with carbamazepine. She has been without seizure for 1 year and weaned from antiepileptic medications 6 months ago after normal findings on video electroencephalography and brain magnetic resonance imaging. There is no recent illness reported. With her current presentation, there is no report of fever, headache, neck pain, vision complaint or tearing, mentation change, sensory alteration, dysphagia, drooling, cough, wheezing, rhinorrhea, dyspnea, diarrhea, emesis, or rash. Her parents are not suspicious for unusual ingestions or toxin exposure. One week ago she traveled to a hospital where she attended an appointment with her sister who is being evaluated for suspected muscular dystrophy. During this trip she played in an outdoor garden but has had no other recent atypical exposures.

At the initial ED encounter she was carried in by her parents. Vital signs included weight of 40 lb (18 kg), heart rate of 106 beats/min, respirations of 22 breaths/min, oxygen saturation of 99% on room air, and a temperature of 98.9°F (37.2°C). Blood pressure was not recorded. She was well-appearing, typically developed, without signs of distress, and appropriately alert and oriented. Head, eyes, ears, nose, and throat …