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Peripheral neuropathy associated with alpha 1-antitrypsin deficiency.
W G Frederick1, R Enriquez, M J Bookbinder
1Department of Laboratory Medicine, Yale-New Haven Hospital, Conn.
Archives of Neurology
|February 1, 1990
Summary
Alpha 1-antitrypsin deficiency is rarely linked to peripheral neuropathy. Diagnosing this deficiency via serum protein electrophoresis is crucial for patients with neuropathy symptoms and a history of Landry-Guillain-Barré syndrome.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Peripheral neuropathy is uncommon in alpha 1-antitrypsin deficiency.
- Serum proteinase inhibitors are being studied for roles in inflammatory neuropathies.
- Conditions like multiple sclerosis and Landry-Guillain-Barré syndrome are of interest.
Observation:
- A young white male presented with peripheral neuropathy and a history of Landry-Guillain-Barré syndrome.
- Alpha 1-antitrypsin deficiency, specifically the proteinase inhibitor ZZ phenotype, was diagnosed in this patient.
Findings:
- This case highlights an unusual presentation of peripheral neuropathy.
- The patient's symptoms and history were key indicators.
- Serum protein electrophoresis revealed the underlying deficiency.
Implications:
- Emphasizes the importance of considering alpha 1-antitrypsin deficiency in neuropathy cases.
- Highlights the diagnostic value of serum protein electrophoresis.
- Suggests potential links between proteinase inhibitor function and neurological conditions.