Shared a case on Curofy
A COMMON PRESENTATION OF A RARE DISEASE AK, a 20 yr old male presents with difficulty in walking since 2 weeks, slurring of speech and loss of balance since 1 week Fever w/ chills, vomitting simce 2 days Bystander also noticed a reversal in sleep rhythm No history of weakness or numbness of upper limb lower limb or face. No h/o headache, neck or back pain. No h/o LOC, seizures, abdominal pain, oliguria, haematemesis, cough, expectoration. Past history reveals a chronic liver disease for which he is on penicillamine since 4 years. No h/o DM, HTN, BA, thyroid disease. No similar familar history. O/E Conscious, cooperative, alert Icterus+ Grade 2 clubbing B/L pitting pedal edema+ Loss of chest and axillary hair Gynaecomastia Eye findings (refer to ths picture) CNS Conscious, oriented, normal memory, ibtelligence, speech slurred, no hallucinations or delirium Cranial nerves normal Sensort system normal Motor system reveals hypertonia in upper and lower limb with extensor plantar and exxagerated deep tendon reflexes. Power normal. No signs of cerebellar disease. GIT No organomegaly No ascites All other systems normal What investigations should be performed? What complication of the disease has the patient presented with? Further management of the case. For the junior students, what is the triad of this disease and the underlying pathology?
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