Volume 6 ; Issue 1 ; in Month : Jan-June (2025) Article No : 112
Sanjiv Chamraj and Sharan Srinivasan

Abstract

Primary familial brain calcification (PFBC) also known as Fahr’s disease, is a rare inherited disorder characterized by bilateral calcification in the basal ganglia according to neuroimaging. We reported a case of novel XPR1 variant cause of idiopathic basal ganglia calcification presented with left predominant parkinsonism clinical conditions. A 54-year-old male presented with a history of early onset of Parkinson’s disease with symptoms of left predominant diminished arm movements, mild rigidity, and bradykinesia. His serum parathyroid hormone levels are normal. CT brain shows diffused symmetric calcifications in bilateral basal ganglia, thalamus, dentate nucleus, pons, and cerebral and cerebellar hemispheres. Ultrasound of the Kidneys, Ureters, and Bladder (USG KUB) revealed right renal calculus. He has been taking medications for Type-2 Diabetes mellitus. Other routine blood test results were normal. Patient has no definitive history of familial genetic inheritance of bilateral calcification of the basal ganglia. Patient was referred for whole exome sequencing. The whole exome sequencing test identified the homozygous missense variant “c.1233A>T p.(Glu411Asp)” detected in the XPR1 gene on chromosomal position Chr1:180834972:A>T. This variant has been located in exon 10 of the transcript NM_004736 and it leads to change in amino acid from Glutamic acid to Aspartic acid at codon 411. The detected XPR1 gene variant “c.1233A>T p.(Glu411Asp)” in our case of 54-year old male has not been reported in the previously published literature. In conclusion, detected novel XPR1 gene variant “c.1233A>T p.(Glu411Asp)” in the chromosomal position Chr1:180834972:A>T led to change in amino acid from Glutamic acid to Aspartic acid at codon 411, and caused to idiopathic basal ganglia calcification in a 54-year old male presented with left predominant parkinsonism clinical conditions. Supplementary video Link: https://shorturl.at/y0o2D

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