The Genetics Case Study Thinger

THE PHYSICAL EXAM

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THE PATIENT AND THEIR HISTORY
THE PHYSICAL EXAM
DIAGNOSIS/GENETIC DISORDER
PROGNOSIS
TREATMENT

The Physical Exam of the Patient

Stethoscope

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 any 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 of hand movements, increases blinking, slurred speech, bradykinesia, dysdiadochokinesia, mild rigidity and adnormal gait with veering to the right. No adventitial movements were seen during the intial 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 intial 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 recieving psychotherapy. No effective treatment was avaliable for her disorder of coordination and movement control.

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By Peter Froitzheim
For Miss Little's Class