Cerebral calcification from Fahr's disease with co-existing haemochromatosis

Scale, Tim; Lewis, Chris; Hedayat, Ahmad Bilal; Wani, Mushtaq Ahmad

doi:10.1002/pnp.354

Cited by 3 publications

(5 citation statements)

References 15 publications

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“…To further support our hypothesis, the slight morphological discrepancy between MRI and CT signal patterns in cerebellar and pallidal regions could suggest that the MRI hypointensity may be related to accumulation of both iron and calcium. Interestingly, CT hyperdense lesions within basal ganglia have been previously reported in HH patients, [4,7,8,12] while more recently it has been described that patients with NBIA syndromes may present basal ganglia calcifications, [10] suggesting a close link between iron and calcium metabolism within the CNS. In our case, the calcification pattern is greater than and different from the calcification patterns seen in physiologic calcifications and in the few published cases of calcifications with HH, which appear more similar to physiologic calcifications [7,12].…”

Section: Discussionmentioning

confidence: 96%

“…Different presentations include both neuroimaging findings suggestive of iron deposition in the absence of neurological manifestations, and neurological symptoms/signs in patients with normal MRI scan. Furthermore, a few cases of basal ganglia calcifications have been described [4,8]. Interestingly, variable or absent responses to iron depletion are reported in these patients.…”

Section: Discussionmentioning

confidence: 99%

“…Usually HH does not involve the central nervous system (CNS), and only sporadic descriptions (i.e. case reports and small case series) of neurological abnormalities have been reported [4,7,8]. Different presentations include both neuroimaging findings suggestive of iron deposition in the absence of neurological manifestations, and neurological symptoms/signs in patients with normal MRI scan.…”

Section: Discussionmentioning

confidence: 99%

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Idiopathic brain calcification in a patient with hereditary hemochromatosis

et al. 2020

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Background: Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease. Idiopathic or secondary brain calcification can be also associated with neurological involvement and brain-MRI T2/T2*GRE-hypointensity. Hereditary hemochromatosis (HH), characterized by systemic iron loading, usually does not involve the CNS, and only sporadic cases of neurological abnormalities or brain-MRI T2/T2*GRE-hypointensity have been reported. Case presentation: A 59-year-old man came to our observation after a diagnosis of HH carried out in another hospital 2 years before. First-level genetic test had revealed a homozygous HFE p.Cys282Tyr (C282Y) mutation compatible with the diagnosis of HFE-related HH, thus phlebotomy treatment was started. The patient had a history of metabolic syndrome, type-2 diabetes, autoimmune thyroiditis and severe chondrocalcinosis. Brain-MRI showed the presence of bilateral T2*GRE hypointensities within globus pallidus, substantia nigra, dentate nucleus and left pulvinar that were considered expression of cerebral siderosis. No neurological symptoms or family history of neurological disease were reported. Neurological examination revealed only mild right-sided hypokinetic-rigid syndrome. Vitamin D-PTH axis, measurements of serum ceruloplasmin and copper, and urinary copper were within the normal range. A brain computed tomography (CT) was performed to better characterize the suspected and unexplained brain iron accumulation. On the CT images, the hypointense regions in the brain MRI were hyperdense. DNA sequence analysis of genes associated with primary familial brain calcification and NBIA was negative. Conclusions: This report highlights the importance of brain CT-scan in ambiguous cases of suspected cerebral siderosis, and suggests that HH patients with a severe phenotype, and likely associated with chondrocalcinosis, may display also brain calcifications. Further studies are needed to confirm this hypothesis. So far, we can speculate that iron and calcium homeostasis could be reciprocally connected within the basal ganglia.

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Idiopathic brain calcification in a patient with hereditary hemochromatosis

et al. 2020

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“… Scale, T. et al, 2014. [ 67 ] Case report Fahr Disease 1M 62 NA NA ✓ No response to L-dopa. Schneider, S.A. et al, 2010.…”

Section: Table A1mentioning

confidence: 99%

Parkinson’s Disease and Metal Storage Disorders: A Systematic Review

2018

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Metal storage disorders (MSDs) are a set of rare inherited conditions with variable clinical pictures including neurological dysfunction. The objective of this study was, through a systematic review, to identify the prevalence of Parkinsonism in patients with MSDs in order to uncover novel pathways implemented in Parkinson’s disease. Human studies describing patients of any age with an MSD diagnosis were analysed. Foreign language publications as well as animal and cellular studies were excluded. Searches were conducted through PubMed and Ovid between April and September 2018. A total of 53 publications were identified including 43 case reports, nine cross-sectional studies, and one cohort study. The publication year ranged from 1981 to 2018. The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson’s disease (6 papers). The mean ages of onset of Parkinsonism for these MSDs were 33, 53, and 48 years old, respectively. The Parkinsonian features described in the PKAN and HH patients were invariably atypical while the majority (4/6) of the Wilson’s disease papers had a typical picture. This paper has highlighted a relationship between MSDs and Parkinsonism. However, due to the low-level evidence identified, further research is required to better define what the relationship is.

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“…It is not clear whether the calcification in Fahr's disease is a metastatic deposition of calcium, secondary to local disruption of blood brain barrier, or is due to disorder of neuronal calcium metabolism [ 11 ]. The exact pathological process is not fully understood; however, it is thought to be a slowly progressing metabolic or inflammatory process within the brain [ 12 ]. The reason of cooccurrence of MS and FD in this patient is unclear.…”

Section: Discussionmentioning

confidence: 99%

Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification

Alameddine

Karimi

Tabrizi

2015

Case Reports in Medicine

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Multiple sclerosis (MS) is a chronic inflammatory demyelinating and neurodegenerative disease of central nervous system that affects both white and gray matter. Idiopathic calcification of the basal ganglia is a rare neurodegenerative disorder of unknown cause that is characterized by sporadic or familial brain calcification. Concurrence of multiple sclerosis (MS) and idiopathic basal ganglia calcification (Fahr's disease) is very rare event. In this study, we describe a cooccurrence of idiopathic basal ganglia calcification with multiple sclerosis. The association between this disease and MS is unclear and also maybe probably coincidental.

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Cerebral calcification from Fahr's disease with co-existing haemochromatosis

Cited by 3 publications

References 15 publications

Idiopathic brain calcification in a patient with hereditary hemochromatosis

Idiopathic brain calcification in a patient with hereditary hemochromatosis

Parkinson’s Disease and Metal Storage Disorders: A Systematic Review

Cooccurrence of Multiple Sclerosis and Idiopathic Basal Ganglia Calcification

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