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- Title
Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis.
- Authors
ÇAKAR, Arman; ATMACA, Murat Mert; KOTAN, Dilcan; DURMUŞ, Hacer; DEYMEER, Feza; OFLAZER, Piraye; PARMAN, Yeşim
- Abstract
Hereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes. A 53-year-old man presented with progressive weakness in lower limbs and operated for lumbar spinal stenosis. The progression of weakness restarted after two years with the addition of symptoms related to polyneuropathy. Electrodiagnostic studies revealed sensorimotor polyneuropathy with autonomic involvement. Sural nerve biopsy disclosed amyloid deposits. Genetic testing of TTR gene identified Glu89Gln mutation. Two years after the diagnosis, he had another decompressive surgery for lumbar spinal stenosis. Histopathological examination of ligamentum flavum specimens revealed amyloid deposits. During the follow up, he was diagnosed with laryngeal amyloidosis, which is an unusual manifestation. Seven years after the diagnosis, he died due to cardiac complications. Our patient suggested that hATTR with Glu89Gln may present with atypical symptoms. Clinicians should carefully look for hATTR in recurrent lumbar stenosis.
- Subjects
AMYLOIDOSIS diagnosis; GENETIC disorder diagnosis; ELECTRODIAGNOSIS; GENETIC mutation; AMYLOIDOSIS; ARTICULAR ligaments; GENETIC disorders; SPINAL stenosis; SERUM albumin; LEG; MUSCLE weakness; POLYNEUROPATHIES; LARYNGEAL diseases; LUMBAR vertebrae; HISTOLOGY; DEATH; PHENOTYPES; SYMPTOMS
- Publication
Archives of Neuropsychiatry / Nöropsikiyatri Arşivi, 2022, Vol 59, Issue 1, p77
- ISSN
1300-0667
- Publication type
Article
- DOI
10.29399/npa.26124