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Fahr syndrome

MedGen UID:
97952
•Concept ID:
C0393590
•
Disease or Syndrome
Synonyms: Fahr's disease; Fahr's syndrome
SNOMED CT: Fahr disease (110997000); Fahr's syndrome (110997000); Idiopathic nonarteriosclerotic cerebrovascular calcification (110997000); Cerebral symmetric calcification (110997000); Cerebrovascular ferrocalcinosis (110997000); Fahr syndrome (110997000)

Professional guidelines

PubMed

Fahr's Syndrome and Neuropsychiatric Symptoms: Differential Diagnosis in Neuropsychiatry.
Teodoro T, Oliveira R
Acta Med Port 2019 Aug 1;32(7-8):558. doi: 10.20344/amp.12427. PMID: 31445539

Recent clinical studies

Etiology

Long-term complications of permanent hypoparathyroidism in adults: prevalence and associated factors.
Cherchir F, Oueslati I, Yazidi M, Chaker F, Mizouni H, Feki M, Chihaoui M
Endocrine 2024 Jun;84(3):1164-1171. Epub 2024 Mar 9 doi: 10.1007/s12020-024-03765-9. PMID: 38460072
Prevalence and vascular risk factors of basal ganglia calcifications in patients at risk for cerebrovascular disease.
de Brouwer EJM, Kockelkoren R, De Vis JB, Dankbaar JW, Velthuis BK, Takx RA, De Jonghe A, Emmelot-Vonk MH, Koek HL, de Jong PA; Dutch acute stroke study investigators (DUST)
J Neuroradiol 2020 Sep;47(5):337-342. Epub 2019 Apr 26 doi: 10.1016/j.neurad.2019.04.002. PMID: 31034898
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification.
Demiryurek BE, Gundogdu AA
Neurosci Lett 2018 Feb 14;666:148-152. Epub 2017 Dec 27 doi: 10.1016/j.neulet.2017.12.050. PMID: 29288724

Diagnosis

Traumatic Brain Injury in the Setting of Fahr Syndrome.
Lu VM, Monaco BA, Graciolli Cordeiro J
World Neurosurg 2023 Aug;176:1-2. Epub 2023 Apr 21 doi: 10.1016/j.wneu.2023.04.063. PMID: 37087029
Primary familial brain calcification with mild phenotype due to a new PDGFB mutation.
Locci S, Bianchi S, De Stefano N, Mignarri A
Neurol Sci 2022 Oct;43(10):6091-6093. Epub 2022 Jun 24 doi: 10.1007/s10072-022-06171-z. PMID: 35750946
Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms - a case report.
Zalewska E, Gnacińska-Szymańska ME, Obołończyk Ł, Sworczak K
Psychiatr Pol 2021 Apr 30;55(2):397-404. doi: 10.12740/PP/119376. PMID: 34365487
Fahr Syndrome Due to Idiopathic Hypoparathyroidism.
Vidyapati, Mazumdar P, Kumar D, Das M
J Assoc Physicians India 2020 Jul;68(7):73. PMID: 32602685
Unexplained neuropsychiatric symptoms in intensive care: A Fahr Syndrome case.
Calili DK, Mutlu NM, Mutlu Titiz AP, Akcaboy ZN, Aydin EM, Turan IO
J Pak Med Assoc 2016 Aug;66(8):1029-31. PMID: 27524543

Therapy

Paroxysmal Nonkinesigenic Dyskinesias Responsive to Carbamazepine in Fahr Syndrome: A Case Report.
Montilla-Uzcátegui V, Araujo-Unda H, Daza-Restrepo A, Sáenz-Farret M, Micheli F
Clin Neuropharmacol 2016 Sep-Oct;39(5):262-4. doi: 10.1097/WNF.0000000000000164. PMID: 27280699

Prognosis

From seizures to cognitive dysfunction: A case report of Fahr syndrome in an Afghan patient.
Madadi S, Alami K, Kaneda Y, Sediqi P
Medicine (Baltimore) 2024 Jun 21;103(25):e38542. doi: 10.1097/MD.0000000000038542. PMID: 38905413Free PMC Article
A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM
BMC Neurol 2019 Apr 12;19(1):60. doi: 10.1186/s12883-019-1292-8. PMID: 30979360Free PMC Article
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification.
Demiryurek BE, Gundogdu AA
Neurosci Lett 2018 Feb 14;666:148-152. Epub 2017 Dec 27 doi: 10.1016/j.neulet.2017.12.050. PMID: 29288724

Clinical prediction guides

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.
Mathorne SW, Sørensen K, Fagerberg C, Bode M, Hertz JM
BMC Neurol 2019 Apr 12;19(1):60. doi: 10.1186/s12883-019-1292-8. PMID: 30979360Free PMC Article
Serum Fetuin-A Levels in Patients with Bilateral Basal Ganglia Calcification.
Demiryurek BE, Gundogdu AA
Neurosci Lett 2018 Feb 14;666:148-152. Epub 2017 Dec 27 doi: 10.1016/j.neulet.2017.12.050. PMID: 29288724

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