Contributed by Wolfgang T. Hofgärtner MD, Albert R. La Spada, MD, PhD, and Jonathan F. Tait, MD, PhD*
-- University of Washington Medical Center, Department of Laboratory Medicine, Box 357110, 1959 N.E. Pacific Street, Seattle, WA 98195-7110
-- * corresponding author
Published on line in September 1997
A 13-year-old girl who had previously been in good health with very strong performance in school presented with a two-year history of declining school performance and decreasing cognitive ability. She also displayed increasing difficulty with motor activities, which became apparent through her participation in sports.
Past medical history was unremarkable, with no hospitalizations, surgeries or serious illnesses. Family history revealed that her two siblings were in good general health. The patient's father, paternal uncle and paternal grandmother had been diagnosed with a movement disorder in the past.
A general physical exam revealed a blood pressure of 122 mm Hg / 76 mm Hg and a pulse of 88. She had a very thin appearance, as her weight was 37 kg. Examination of the chest, heart and abdomen failed to reveal abnormalities. Neurological exam demonstrated pupils that were equal, round and reactive to light and accommodation. She had difficulty with smooth pursuit and lateral saccades, and showed an overshooting and nystagmus on rapid movements of the eyes. Facial movements were symmetrical and facial sensation was intact. Hearing and vision were grossly unimpaired. Motor exam showed minimal weakness, but no atrophy or fasciculations were noted. Reflexes were symmetrical with no pathological reflexes and sensation was intact. She was noted to have abnormalities of coordination as well as with her station and gait. These remarkable neurological findings included loss of coordination of hand movements, increased blinking, slurred speech, bradykinesia, dysdiadochokinesia, mild rigidity and abnormal gait with veering to the right. No adventitial movements were seen during the initial examination.
Ceruloplasmin was normal. CBC was normal and the peripheral smear showed no acanthocytes. ESR was normal, as were vitamin B12 and folate. In summary, all laboratory studies were normal except for an anti-streptolysin O (ASO) titer which was elevated to 1:800.
Two years after the initial presentation the patient's physical and mental condition had deteriorated significantly. Her coordination and movement control worsened and she suffered from depression complicated by an acute psychotic episode. She is currently being maintained on antipsychotic medication and is receiving psychotherapy. No effective treatment was available for her disorder of coordination and movement control.
DIAGNOSIS AND DISCUSSION