Aceruloplasminemia with Novel Mutation, with IgG4 Related Pachymeningitis - Occam's Razor or Hickam's Dictum?

Autor: Yaranagula SD; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India., Mathukumalli NL; Department of Neurology, Nizams Institute of Medical Sciences, Hyderabad, Telangana, India., Kola S; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India.; Department of Neurology, Nizams Institute of Medical Sciences, Hyderabad, Telangana, India., Kandadai RM; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India.; Department of Neurology, Nizams Institute of Medical Sciences, Hyderabad, Telangana, India., Prasad V; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India.; Department of Neurology, Nizams Institute of Medical Sciences, Hyderabad, Telangana, India., Alugolu R; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India., Borgohain R; Parkinson's Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad, Telangana, India.; Department of Neurology, Nizams Institute of Medical Sciences, Hyderabad, Telangana, India.
Jazyk: angličtina
Zdroj: Annals of Indian Academy of Neurology [Ann Indian Acad Neurol] 2023 Nov-Dec; Vol. 26 (6), pp. 994-996. Date of Electronic Publication: 2023 Oct 05.
DOI: 10.4103/aian.aian_455_23
Abstrakt: 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.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2023 Annals of Indian Academy of Neurology.)
Databáze: MEDLINE
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