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

Abstract

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.

Keywords: Aceruloplasminemia; IgG4; novel mutation; pachymeningitis.

Figure 1

– MRI brain images. (a) - T2 weighted axial MRI brain images showing hypo intensities in bilateral dentate nuclei (thin arrow) and bilateral basal ganglia and thalami (broad arrows), suggesting extensive mineralisation. (b) - Post Gadolinium T1 weighted axial MRI brain images showing diffuse dural enhancement predominantly on tentorium cerebelli and inter hemispheric region. (c) - Post Gadolinium T1 weighted sagittal MRI Cervical spine images showing dense enhancement of meninges covering spine