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.
Conscious, cooperative, alert
Grade 2 clubbing
B/L pitting pedal edema+
Loss of chest and axillary hair
Eye findings (refer to ths picture)
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.
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?