Amyloidosis I

2002 Baylor College of Medicine Department of Neurology Case #67 (History and Physical and Differential Diagnosis):

She is a 31 year old right handed female from Brazil, with progressive numbness and burning dysesthesias in her feet beginning insidiously approximately 8-10 months preceding the evaluation.

She has begun to fall frequently, and complains that her "balance is terrible."

She describes a 4 to 5 year history of constipation.

The patient's mother died at age 42 with cardiac and renal illnesses, preceded by gait difficulty starting at age 37. Her mother's sister reportedly had similar complaints.

Tendon reflexes are 1/4 in upper extremities, symmetrically, and absent at knees and ankles.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even without any laboratory testing, "Amyloidosis I: Transthyretin amyloid neuropathy" is the clear leader among the diagnoses.

NOTE:  Some of the findings in the group of diseases in the differential diagnosis are not filled in very completely, but enough information is present to suggest the correct diagnosis.

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