Case 1: The girl who couldn't sit still

Abstract

A seven-year-old Caucasian girl was referred to the hospital from the community with concerns about abnormal movements of her upper and lower extremities and slurring of speech. Before this, she had a two-week history of low grade fever, difficulty with feeding herself, deterioration in handwriting and trouble concentrating in school. She was seen by her family doctor at the onset and was believed to have had a viral infection. There was no history of a preceding sore throat or any concurrent symptoms such as headache, vomiting or fluctuating level of consciousness. Her past medical history was unremarkable. She was not taking any medications and there was nothing to suggest any intentional or accidental drug or poison ingestion. On examination, she was afebrile with stable vital signs. She was alert and cooperative but would not speak to hospital staff. She displayed facial grimacing, thrusting of the tongue and bilateral writhing nonpurposeful movements of her arms and legs, as well as the ‘milk maid’ sign when asked to squeeze the examiner’s fingers. She had a mild fleeting erythematous macular rash over her forearms. Cardiac auscultation revealed normal heart sounds, with no audible murmur or rub. The remainder of her examination was normal. Laboratory investigations showed a white blood cell count of 11.1×109/L (polymorphs 4.8×109/L, bands 1.1×109/L, lymphocytes 4.0×109/L), hemoglobin of 128 g/L, and platelets of 536×109/L. Her erythrocyte sedimentation rate was elevated at 30 mm/h (normal <10 mm/h). Throat swab, cerebrospinal fluid culture, blood and urine toxicology screens and a head CT scan were normal. Antinuclear antibody, anti-double stranded DNA antibody, and 24 h urine copper level and serum ceruloplasmin were normal. Anticardiolipin antibody and the lupus anticoagulant screen were both negative. A further laboratory test confirmed the diagnosis.