CT Findings and Gene Mutation Characteristics in a Family with Familial Hereditary Fahr's Disease

Abstract

Abstract:

Objective: To investigate the CT and gene mutation in familial hereditary Fahr's disease. Methods: Retrospective
analysis was done on cranial CT clinical manifestations and gene mutation characteristic of 4 patients in 3 generations of one family,
and combined with literature, family hereditary Fahr's disease was reviewed. Results: The clinical manifestations of 1 patient were
slow action, decreased memory and delayed response, while the other 3 patients had no clinical symptoms. The cranial CT findings of
all 4 patients showed symmetrical calcification in bilateral cerebellar dentate nucleus, basal ganglia and paraventricular regions; serum
parathyroid hormone, thyroid function, calcium, phosphorus and magnesium were normal in 4 patients; in 3 patients the G mutation of
the exon 1604 of SLC20A2 gene was A in gene detection. Conclusion: According to family history, cranial CT, intracranial
calcification and SLC20A2 gene test results, familial hereditary Fahr's disease can be diagnosed clearly.

CLC Number:

R445.1

SHU Tu-Gong, LI Wen-Wu. CT Findings and Gene Mutation Characteristics in a Family with Familial Hereditary Fahr's Disease[J]. , 2019, 4(8): 58-62.

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