التفاصيل البيبلوغرافية
| العنوان: |
Aceruloplasminemia with novel mutation, with IgG4 related pachymeningitis – occam's razor or hickam's dictum? |
| المؤلفون: |
Yaranagula, Sai, Mathukumalli, Neeharika, Kola, Sruthi, Kandadai, Rukmini, Prasad, Vanakuru, Alugolu, Rajesh, Borgohain, Rupam |
| المصدر: |
Annals of Indian Academy of Neurology; Nov/Dec2023, Vol. 26 Issue 6, p994-996, 3p |
| مصطلحات موضوعية: |
HEMOCHROMATOSIS diagnosis, BRAIN, BLOOD proteins, GENETIC mutation, BIOPSY, ORAL drug administration, PARALYSIS, AUTOIMMUNE diseases, HYPOGLYCEMIC agents, DIFFERENTIAL diagnosis, MAGNETIC resonance imaging, IMMUNOGLOBULIN G, TYPE 2 diabetes, GLOBULINS, MENINGITIS, HEADACHE, HYPERFERRITINEMIA, DISEASE complications |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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