Teaching Neuro Images : Neurodegeneration with brain iron accumulation in aceruloplasminemia

Abstract

A 55-year-old African Canadian man with insulindependent diabetes mellitus and alcohol abuse presented with diabetic ketoacidosis. Progressive cognitive decline over the previous 5 years resulted in long-term care placement. Aside from pigmentary retinopathy, general examination was unremarkable. MRI demonstrated iron accumulation in the brain (figure 1) and liver ( figure 2A). Ceruloplasmin, a ferroxidase enzyme important in iron homeostasis, was undetectable and associated with low serum iron, low serum copper, and 10-fold increase in serum ferritin. Liver biopsy confirmed increased hepatocyte iron storage ( figure 2B). Aceruloplasminemia was diagnosed.1,2 Iron chelation was not administered given advanced dementia at presentation. Brain iron accumulation in aceruloplasminemia Axial T2-weighted gradient echo MRI demonstrates hypointensity of the caudate nuclei, putamina, thalami, red nuclei, occipital cortex, and cerebellar dentate nuclei consistent with brain iron accumulation.

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson’s disease

“…Visual examination is performed to diagnose peripheral degeneration of the retina [16]. MRI of the brain is used to find the accumulation of iron in the basal ganglia, thalamus, mesencephalon and cerebellum [19]. In the case of our patient, aceruloplasminaemia was not found before searching for the cause of chronic hepatopathy with low concentrations of serum ceruloplasmin.…”

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

“…The review of the literature showed 52 original case descriptions in 39 articles . Genealogical studies of the reported cases revealed seven additional patients without detailed case descriptions .…”

Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis

“…While Japanese patients with neurological involvement still represent the majority (Miyajima and Hosoi, 1993–2018) the second group is represented by Italian patients reported by some referral centers for disorders of iron metabolism (Pelucchi et al, 2018). Nonetheless, ACP has been described also in other European countries (Spain, France, Netherlands, Belgium, Poland), as well as in China and in African American patients (Shang et al, 2006; Parks et al, 2013; Vroegindeweij et al, 2017; Riboldi et al, 2018). The generally low disease awareness, as well as a negative publication bias of single cases, represents possible explanations for the limited number of reports.…”