Aceruloplasminemia with novel mutation, with IgG4 related pachymeningitis – occam's razor or hickam's dictum?

Autor: Sai D Yaranagula, Neeharika L Mathukumalli, Sruthi Kola, Rukmini M Kandadai, Vanakuru Prasad, Rajesh Alugolu, Rupam Borgohain
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 994-996 (2023)
Druh dokumentu: article
ISSN: 0972-2327
1998-3549
DOI: 10.4103/aian.aian_455_23
Popis: To report a patient with concomitant aceruloplasminemia (with a novel mutation) and IgG4-related pachymeningitis and to hypothesize on the possible relation between the two diseases. Clinical, radiological, and laboratory features of a 56-year-old lady with chronic headache, bifacial palsy, and cerebellar signs are described. Pathophysiology of aceruloplasminemia leading to hyperferritinemia and consequent immune activation is elucidated. A coherent explanation of IgG4-related pachymeningitis resulting from aceruloplasminemia and hyperferritinemia is given. The patient has aceruloplasminemia with a novel nonsense mutation. She also suffers from biopsy-proven IgG4 related pachymeningitis as per standard criteria. These two seemingly unrelated illnesses are linked by hyperferritinemia. This case is a fine example of Occam's razor. Immune dysfunction and autoimmune disorders in aceruloplasminemia need to be explored through further studies to look for causal associations.
Databáze: Directory of Open Access Journals
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