Transthyretin amyloidosis (serine 44) with headache, hearing loss, and peripheral neuropathy.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 9818883.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
A 32-year-old man of Irish descent presented with severe progressive headache and sensorineural hearing loss. MRI/magnetic resonance angiography head scans were normal. A length-dependent sensorimotor peripheral neuropathy with autonomic dysfunction predated these symptoms. Systemic organ involvement and transthyretin (TTR) amyloid immunostaining of bone marrow and fat aspirate were documented. Direct DNA sequencing revealed both the normal TTT (phenylalanine) and a new variant TCT (serine) at position 44 of the TTR gene. This case expands the genotypic and phenotypic variability within TTR amyloidosis.
Medical subject headings
- Amyloidosis
- Hearing Loss, Sensorineural
- Peripheral Nervous System Diseases
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Prealbumin
- Serine