30 March 2018 : Case report
Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene
Challenging differential diagnosis, Rare diseaseKarlos Z. Oregel1EF, Geoffrey P. Shouse1ABCDEF*, Cyrus Oster2E, Freddy Martinez3BE, Jun Wang4E, Michael Rosenzweig5E, Jeremy K. Deisch4BCD, Chien-Shing Chen1E, Gayathri Nagaraj1E
Am J Case Rep 2018; 19:374-381
BACKGROUND: Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease.
CASE REPORT: We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia. Gelsolin amyloidosis was diagnosed based on mass spectrometry of tissue samples. Importantly, a novel mutation in the gelsolin gene (C1375G) in exon 10 was found in this patient. His atypical presentation can possibly be attributed to the presence of a novel mutation in the gelsolin gene as the likely underlying cause of the syndrome. PCR primers were used to amplify the gelsolin gene from genomic DNA. Purified PCR products were then shipped to Eton Biosciences (San Diego, CA) for sequencing.
CONCLUSIONS: This study carries several important lessons relevant to the practice of medicine. First, the differential diagnosis for multisystem disease presentations should always include amyloidosis. Second, despite what has been uncovered about the molecular biology of disease, there is always more that can be discovered. Finally, further work to verify the link between this mutation and the clinical syndrome is still needed, as are effective treatments for this disease.
Keywords: Amyloid Neuropathies, Familial, Amyloidosis, Familial, Gelsolin
09 Jun 2023 : Case reportVenous Thoracic Outlet Syndrome with an Upper Extremity Deep Vein Thrombosis Caused by a Dislocated Clavicl...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939250
08 Jun 2023 : Case reportChylothorax: A Tangled Road to Definitive Diagnosis of Non-Hodgkin Lymphoma
Am J Case Rep In Press; DOI: 10.12659/AJCR.939098
06 Jun 2023 : Case reportA Classical Case of Cesarean Scar Endometriosis in a 35-Year-Old Woman Presenting with Cyclical Abdominal P...
Am J Case Rep In Press; DOI: 10.12659/AJCR.940200
05 Jun 2023 : Case reportPeri-Hilar Cystic Lymphangioma Mimicking a Biliary Cystic Lesion Causing Biliary Obstruction: A Case Report...
Am J Case Rep In Press; DOI: 10.12659/AJCR.939421
Most Viewed Current Articles
06 Dec 2021 : Case reportLipedema Can Be Treated Non-Surgically: A Report of 5 Cases
Am J Case Rep 2021; 22:e934406
13 Jul 2022 : Case reportWhistling Scrotum: An Unusual Presentation of Pneumomediastinum in the Setting of an Open Scrotal Wound
Am J Case Rep 2022; 23:e936441
07 Dec 2021 : Case reportEdwardsiella tarda: A Classic Presentation of a Rare Fatal Infection, with Possible New Background Risk Fac...
Am J Case Rep 2021; 22:e934347
23 Feb 2022 : Case reportPenile Necrosis Associated with Local Intravenous Injection of Cocaine
Am J Case Rep 2022; 23:e935250