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NEUROIMAGE
Year : 2019  |  Volume : 67  |  Issue : 6  |  Page : 1573-1574

Fahr's Syndrome in a Sporadic Case


1 Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia; Università Cattolica del Sacro Cuore, Rome, Italy
2 Ospedale Pediatrico Bambino Gesù IRCCS, Division of Neurology, Rome, Italy

Date of Web Publication20-Dec-2019

Correspondence Address:
Dr. Valerio Brunetti
Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, Rome; Università Cattolica del Sacro Cuore, Rome
Italy
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.273636

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How to cite this article:
Brunetti V, Ferilli MA, Luigetti M. Fahr's Syndrome in a Sporadic Case. Neurol India 2019;67:1573-4

How to cite this URL:
Brunetti V, Ferilli MA, Luigetti M. Fahr's Syndrome in a Sporadic Case. Neurol India [serial online] 2019 [cited 2020 Jan 22];67:1573-4. Available from: http://www.neurologyindia.com/text.asp?2019/67/6/1573/273636




An 88-year-old woman with progressive dementia and  Parkinsonism More Details unresponsive to L-dopa was referred to the emergency department for traumatic brain injury. Skull X-rays [Figure 1] and brain CT [Figure 2] showed extensive and symmetrical intracranial calcification located in dentate nuclei, occipital cortex, thalami, basal ganglia, and centrum semiovale. Routine blood tests and parathormone were normal. Neurological examination showed akinetic-rigid parkinsonism and severe cognitive impairment. Despite a negative family history, patient's features were suggestive of Fahr's syndrome.
Figure 1: Skull X-rays show intracranial calcification

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Figure 2: Brain CT shows bilateral and symmetrical calcification of dentate nuclei (a), occipital cortex (b and c), thalami (d), basal ganglia (d and e), and centrum semiovale (f)

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Fahr's syndrome, or idiopathic basal ganglia calcification (IBGC), is a rare neurological disorder characterized by abnormal deposition of calcium in brain.

It is usually inherited (known as familial idiopathic basal ganglia calcification) most commonly as an autosomal dominant trait, but it may also occur sporadically.[1]

The age of onset is usually in the third and fourth decades. The clinical picture is heterogeneous and includes neurological and neuropsychiatric symptoms. Movement disorders are usually the prominent neurological sign and they include a variety of conditions such as parkinsonism, chorea, tremors, dystonia, and athetosis.[2] Neuropsychiatric symptoms range from difficulty with concentration and memory to changes in personality or behaviors to psychosis and dementia. Seizures and signs of cerebellar dysfunction such as dysarthria and ataxia may also occur.[3]

The CT scan of the brain is sensitive enough to localize and assess the extent of cerebral calcification. Other investigations include blood and urine tests (such as serum concentrations of calcium, phosphorus, magnesium, alkaline phosphatase, calcitonin, and PTH).[4]

Fhar's syndrome is a neurodegenerative and progressive disorder and there is no treatment at this time.[5]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr's syndrome: Literature review of current evidence. Orphanet J Rare Dis 2013;8:156.  Back to cited text no. 1
    
2.
Badheka R, Barad NK, Sankhla CS. Pediatric movement disorders. Neurol India 2018;66(Suppl):S59-67.  Back to cited text no. 2
    
3.
Liu J, Guo W. Familial idiopathic basal ganglia calcification (Fahr's disease) and diabetes mellitus: A review of literature. Neurol India 2015;63:970-2.  Back to cited text no. 3
[PUBMED]  [Full text]  
4.
Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 2005;11:73-80.  Back to cited text no. 4
    
5.
Savino E, Soavi C, Capatti E, Borrelli M, Vigna GB, Passaro A, et al. Bilateral strio-pallido-dentate calcinosis (Fahr's disease): Report of seven cases and revision of literature. BMC Neurol 2016;16:165.  Back to cited text no. 5
    


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