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.
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Fahr's syndrome (FS) is a rare disorder characterized by intracerebral calcification, presenting with various neuropsychiatric symptoms. This case highlights a rare presentation of FS with secondary hyperparathyroidism. It underscores the importance of comprehensive evaluation of early symptoms, effective use of diagnostic procedures, and proper management of symptoms.
View Article and Find Full Text PDFFahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.
View Article and Find Full Text PDFFahr's Syndrome with Pseudohypoparathyroidism: Oral Features and Genetic Insights.
Int J Mol Sci
October 2024
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, National Clinical Research Center for Oral Disease, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology & Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, The Fourth Military Medical University, Xi'an 710000, China.
Article Synopsis
- - Fahr's syndrome is a rare neurodegenerative disorder with under-explored oral manifestations; this study examines the dental features and genetic aspects using a specific patient case and literature review.
- - The examined patient exhibited several dental issues, including extra teeth, missing teeth, and enamel problems, but genetic testing did not identify known mutations linked to her conditions.
- - A review of previous cases revealed that patients with Fahr's syndrome and related disorders share common oral problems, suggesting that dental anomalies may be significant features in understanding these conditions.
Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.
Front Genet
August 2024
Department of Neurology, Qujing First People's Hospital, Qujing, Yunnan, China.
This study reported a case of MELAS syndrome presenting as the initial imaging characteristics of Fahr's syndrome with "near" sudden unexpected death in epilepsy (SUDEP) and lateralized periodic discharges (LPD). The patient, a young boy, experienced loss of consciousness 2 days prior, which was followed by two limb and facial convulsions. He was later found in cardiac arrest during hospitalization, but regained consciousness gradually after receiving cardiopulmonary resuscitation and tracheal intubation.
View Article and Find Full Text PDFInter- and Intrarater Agreement of CT Brain Calcification Scoring in Primary Familial Brain Calcification.
AJNR Am J Neuroradiol
January 2025
Department of Radiology (W.P.T.M.M., M.J.C.B., S.V.d.L., D.R.R., S.M.U.V. P.A.d.J.), University Medical Center Utrecht, Utrecht, the Netherlands.
Background And Purpose: The total calcification score (TCS) is a visual rating scale to measure primary familial brain calcification (PFBC)-related calcification severity on CT. We investigated the inter- and intrarater agreement of a modified TCS.
Materials And Methods: Patients aged ≥18 years with PFBC or Fahr syndrome who visited the outpatient clinic of a Dutch academic hospital were included.
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