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.
SavinoESoaviCCapattiE, et al. Bilateral striopallidodentate calcinosis: report of seven cases and revisionof literature. BMC Neurol2016; 16: 165.
2.
ManyamBVWaltersASNarlaKR.Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord2001; 16: 258–64.
AhadMABalaCKarimS.Fahr’s syndrome. Bang Med J (Khulna)2013; 45: 33–35.
5.
ChiuHFLamLCShumPP, et al. Idiopathic calcification of the basal ganglia. Postgrad Med J1993; 69: 68–70.
6.
GuoXXZouXHWangC, et al. Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcification. Hum Mutat2019; 40(4): 392–403.
7.
ZhouYYYangYQiuHM.Hypoparathyroidism with Fahr’s syndrome: a case report and review of the literature. World J Clin Cases2019; 7: 3662–70.
8.
BilezikianJPKhanAPottsJTJr., et al. Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, & challenges for future research. J Bone Miner Res2011; 26: 2317–37.
9.
ShobackDMBilezikianJPCostaAG, et al. Presentation of hypoparathyroidism: etiologies and clinical features. J Clin Endocrinol Metab2016; 101: 2300–12.
10.
ClarkeBLBrownEMCollinsMT, et al. Epidemiology and diagnosis of hypoparathyroidism. J Clin Endocrinol Metab2016; 101: 2284–99.
11.
BilezikianJPBrandiMLCusanoNE, et al. Management of hypoparathyroidism: present and future. J Clin Endocrinol Metab2016; 101: 2313–24.
12.
SchlingmannKPWeberSPetersM, et al. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, new member of the TRPM gene family. Nat Genet2002; 31: 166–70.
13.
LeeYJParkSKimYW, et al. A case of seizure revealing Fahr’s syndrome with primary hypoparathyroidism. Am J Case Rep2018; 19: 1430–1433.
14.
SoaresFBAmorimFFSantanaAR, et al. Fahr’s syndrome due to hypoparathyroidism following thyroidectomy. J Med Cases2013; 4: 380–84.
15.
MufaddelAOsmanOTAl HassaniG.Cerebral Calcifications as a Differential Diagnosis of Psychiatric Disorders in Research on Virology and Cytopathology; Chapter 7, Research on Virology and Cytopathology. Iconcept Press (15 July 2017); 2016.
PerugulaMLLippmannS.Fahr’s disease or Fahr’s syndrome?Innov Clin Neurosci2016; 13: 45–6.
18.
RamosEMOliveiraJSobridoMJ, et al. Primary familial brain calcification. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, (Book editors). GeneReviews® [Internet]. Seattle, (WA): University of Washington, Seattle; 1993. April 18, 2004; Last update: August 24, 2017.
19.
KechaouIBoukhrisI.Hypoparathyroïdie et démence d’installation rapide: penser au syndrome de Fahr [Hypoparathyroidism and early onset dementia: Fahr syndrome should be suspected]. Pan Afr Med J2018; 30: 82.
20.
Ramos-LopesJBrásAMorgadinhoA, et al. Acute generalized chorea, dystonia and brain calcifications: a case report. Acta Med Port2019; 32: 402–406.
21.
JangBHSonSWKimCR.Fahr’s disease with intracerebral hemorrhage at the uncommon location: a case report. Ann Rehabil Med2019; 43: 230–233.
22.
ArrudaACGGuerraACDZPessoaCH, et al. Hypoparathyroidism and Fahr’s syndrome: case series. J Bras Nefrol2022; 44: 592–96.
23.
BrandiMLBilezikianJPShobackD, et al. Management of hypoparathyroidism: summary statement and guidelines. J Clin Endocrinol Metab2016; 101: 2273–83.
24.
BollerslevJRejnmarkLMarcocciC, et al. European Society of Endocrinology clinical guideline: treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol2015; 173: G1-20.
25.
HeaneyRPDowellMSBiermanJ, et al. Absorbability and cost effectiveness in calcium supplementation. J Am Coll Nutr. 2001; 20: 239–46.
26.
MortensenLHyldstrupLCharlesP.Effect of vitamin D treatment in hypoparathyroid patients: a study on calcium, phosphate and magnesium homeostasis. Eur J Endocrinol1997; 136: 52–60.
27.
NeerRMHolickMFDeLucaHF, et al. Effects of 1alpha-hydroxy- vitamin D3 and 1,25-dihydroxy-vitamin D3 on calcium and phosphorus metabolism in hypoparathyroidism. Metabolism1975; 24: 1403–13.
28.
TohmeJFBilezikianJP.Hypocalcemic emergencies. Endocrinol Metab Clin North Am1993; 22: 363–75.
29.
KurimotoTYonishiRUeharaH, et al. Vascular injury due to a peripherally inserted central catheter in a neonate born during the 24th week of gestation. Clin Case Rep2022; 10: e5991.
30.
CooperMSGittoesNJ.Diagnosis and management of hypocalcaemia. BMJ2008; 336: 1298–302.
31.
NasirNSayeedMAJamilB.Ralstonia pickettii Bacteremia: an emerging infection in a tertiary care hospital setting. Cureus2019; 11: e5084.
32.
SaleemSAslamHMAnwarM, et al. Fahr’s syndrome: literature review of current evidence. Orphanet J Rare Dis2013; 8: 156.
33.
JaworskiKStyczyńskaMMandeckaM, et al. Fahr syndrome – an important piece of a puzzle in the differential diagnosis of many diseases. Pol J Radiol2017; 82: 490–493.
