Fahr's syndrome associated with hypoparathyroidism: A case report

J R Coll Physicians Edinb. 2023 Dec;53(4):283-287. doi: 10.1177/14782715231210606. Epub 2023 Nov 7.

Abstract

Fahr's syndrome affects fewer than 1 in 100,000 people. It is an inherited neurological disorder, which is distinguished by atypical calcium deposition in the movement-controlling areas of brain, that is thalamus, dentate nucleus, basal ganglia, cerebellum, cerebral cortex, hippocampus and subcortical white matter. The majority of patients often experience extrapyramidal symptoms, cerebellar signs, speech difficulty, dementia and neuropsychiatric manifestations. This disease's molecular genetics have not been thoroughly investigated. Typically, young to middle-aged adults are affected though basal ganglia calcification in hypoparathyroidism is quite uncommon. Laboratory results and radiographic brain imaging helps in reaching the diagnosis. The treatment is mainly symptomatic. We present a case of Fahr's syndrome associated with hypoparathyroidism.

Keywords: Fahr’s syndrome; Ralstonia; calcium; hypoparathyroidism; seizures.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Basal Ganglia Diseases* / diagnosis
  • Basal Ganglia Diseases* / diagnostic imaging
  • Calcinosis* / complications
  • Calcinosis* / etiology
  • Humans
  • Hypoparathyroidism* / complications
  • Hypoparathyroidism* / diagnosis
  • Middle Aged
  • Neurodegenerative Diseases* / complications
  • Neurodegenerative Diseases* / diagnosis

Supplementary concepts

  • Fahr's disease