Hereditary and non-hereditary etiologies associated with extensive brain calcification: case series

Abstract

Cerebral calcification may be caused by several potentially treatable conditions, however, in most cases it does not receive special attention in clinical practice. From the point of view of etiology, the diseases associated with cerebral calcification can be divided into two main groups: idiopathic (mostly incurable) and secondary (potentially treatable). The first group includes mainly the hereditary diseases identified before 2021 (primary familial brain calcification subtypes, previously known as Fahr's disease or Fahr's syndrome). In contrast, the second group includes diseases with cerebral calcification that develop generally as a consequence of metabolic/endocrine/autoimmune abnormalities. The aim of our research was to present hereditary and non-hereditary etiologies associated with extensive brain calcification. We compare the detailed clinical, radiological and laboratory results of 6 patients with prominent cerebral calcification identified in our clinic in the last 3 years (idiopathic and secondary etiologies as well). Our research draws attention to the complexity of the etiologies in the context of cerebral calcification. We recommend, beside NGS-based sequence analyses, the application of array comparative genomic hybridization as well, to identify potential genetic etiologies associated with brain calcification.

Infectious Diseases and Basal Ganglia Calcifications: A Cross-Sectional Study in Patients with Fahr’s Disease and Systematic Review

“…During the last two decades, studies have reported associations between BGC and CMV, chronic active EBV, HIV, Mycobacterium tuberculosis, rubella virus, and Zika virus . Narrative reviews and textbooks have reported associations between BGC and Brucella sp., HSV, mumps virus, Neisseria meningitidis, Taenia solium, Toxoplasma gondii, and Treponema pallidum [2][3][4]6,7,17,38,41,[43][44][45][47][48][49][50][51][52][53][54][55][56][57][58][59][60]. Most original studies reported about congenital or perinatally acquired infectious diseases (CMV, HIV, rubella virus, Zika virus).…”

“…Narrative reviews and textbooks reported an additional seven pathogens, which included Brucella sp., HSV, mumps virus, Neisseria meningitidis, Taenia solium (a tapeworm causing cysticercosis), Toxoplasma gondii, and Treponema pallidum [2][3][4]6,7,17,38,41,[43][44][45][47][48][49][50][51][52][53][54][55][56][57][58][59][60]. The original articles, which were cited by the narrative reviews and textbooks, were published before 2002 and were therefore not retrieved.…”