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Table of Contents
Year : 2019  |  Volume : 16  |  Issue : 4  |  Page : 236-239

Fahr's disease presenting with pure dementia: A case report and literature review

1 Department of Neurology; Department of Medicine, Federal University of Santa Maria; Federal University of Santa Maria Health Sciences Center, Santa Maria, RS, Brazil
2 Department of Medicine, Federal University of Santa Maria; Federal University of Santa Maria Health Sciences Center, Santa Maria, RS, Brazil

Date of Submission05-Sep-2019
Date of Acceptance09-Oct-2019
Date of Web Publication12-Dec-2019

Correspondence Address:
Jamir Pitton Rissardo
Rua Roraima, Santa Maria, Rio Grande do Sul
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/am.am_54_19

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Fahr's disease (FD) is a rare inherited or sporadic disorder characterized by symmetrical calcium deposits in the basal ganglia and dentate nuclei with the absence of biochemical abnormalities. Clinical manifestations can start at different ages with a variety of presentations. We report a case of a 68-year-old male who presented to our service with clinical signs and symptoms of pure and progressive dementia. Afterward, he developed mood changes, and finally, movement disorders, probably due to a sporadic form of FD. Noncontrast cranial computed tomography scan demonstrated scattered brain parenchyma, bilateral calcifications in the basal ganglia, and dentate nuclei. Standard blood tests were within the normal limits. In this way, FD can present with pure dementia at onset, reflecting a wide range of neurological manifestations. The diagnosis is challenging, and we proposed an acronym to facilitate the learning of the diagnostic criteria.

Keywords: Dementia, Fahr's disease, idiopathic basal ganglia calcification, tomography

How to cite this article:
Rissardo JP, Fornari Caprara AL, Freitas Silveira JO. Fahr's disease presenting with pure dementia: A case report and literature review. Apollo Med 2019;16:236-9

How to cite this URL:
Rissardo JP, Fornari Caprara AL, Freitas Silveira JO. Fahr's disease presenting with pure dementia: A case report and literature review. Apollo Med [serial online] 2019 [cited 2022 Dec 7];16:236-9. Available from: https://apollomedicine.org/text.asp?2019/16/4/236/272822

  Introduction Top

Fahr's disease (FD), also known as bilateral striopallidodentate calcinosis, is a rare inherited or sporadic disorder, more commonly seen in men. It is characterized by the presence of symmetrical calcium deposits within the basal ganglia and the absence of biochemical abnormalities.[1],[2] Clinical manifestations are variable and may have different age of onset, even in familial FD cases.[3] Neurological dysfunction is usually progressive and includes symptoms of hypokinetic movement disorder and cognitive impairment.[4],[5]

The occurrence of cognitive impairment in bilateral striopallidodentate calcinosis has been rarely reported in the literature.[6] To the author's knowledge, there are four case reports of FD presenting with pure dementia at onset. In this way, we report a case of a 68-year-old male who presented to our service with clinical signs and symptoms of pure and progressive dementia. Afterward, he developed mood changes, and finally, movement disorders, probably due to a sporadic form of FD.

  Case Report Top

A 51-year-old male was admitted to our hospital due to progressive short-term memory impairment with 6 months of onset. He was previously healthy and worked in agriculture. His family history was unremarkable and negative for neurological diseases. Neuropsychological assessment showed mild memory impairment with alterations in sequential complex tasks and calculation. A global cognitive assessment was obtained through the Mini-Mental State Examination, which showed mild cognitive impairment (23/30). His physical examination was normal. Laboratorial tests were within the normal limits, including complete blood count; fasting blood glucose and electrolytes (sodium, potassium, calcium, phosphorus, and magnesium); thyroid, liver, and renal function tests; Vitamin B12; and venereal disease research laboratory, hepatitis B surface antigen, anti-hepatitis C virus, and anti-human immunodeficiency virus types 1 and 2. Given the above clinical manifestations and laboratorial tests results, until this point, the main suspected diagnosis was a dementia with an irreversible cause, such as Alzheimer's disease.

More than 1 year after disease onset, the patient's cognitive function had further deteriorated. Learning and spontaneous recall had declined, and he made many errors of commitment and perseverations during memory tests. The most striking deficits were found on tasks measuring executive functions.

In the follow-up about 24 months later, he reported humor change with 2 months of onset, as well as tremor with 1 week of onset. Upon humor evaluation, he reported sadness for extended periods but denied suicidal thoughts. Relatives reported that the patient had started to present irritability, but he was not aggressive. Neurological examination showed intentional and postural tremors in the left upper limb and resting tremor in the right upper limb, associated with rigidity and bradykinesia. Cranial nerves examination was normal. A noncontrast cranial computed tomography (CT) was suggestive of Fahr's syndrome [Figure 1]. A brain magnetic resonance imaging showed also diffuse cortical atrophy, predominantly in the parietotemporal areas and mild periventricular hyperintensity. A single-photon emission computed tomographic scan demonstrated hypometabolism in bilateral parietal regions. Due to the possibility of secondary causes of calcium deposits in the basal ganglia, urinary calcium, parathyroid hormone, 25-hydroxyvitamin D, IgM and IgG for toxoplasma gondii, and standard blood tests were requested. All of those were found within the normal limits.
Figure 1: Neuroimaging suggestive of Fahr's disease. Noncontrast cranial computed tomography scan demonstrating scattered brain parenchyma, bilateral and symmetric calcifications in the basal ganglia (a) and deep cerebellar nuclei (b)

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  Discussion Top

In 1930, Fahr described an individual with dementia that presented mineral deposits in the cortex, ventricles, centrum ovale, and striatum. Since then, all types of cerebral calcifications have been named Fahr's.[7] Nevertheless, review articles have stated that the term FD is a misnomer. Once this disease presents with calcium deposition more commonly in the basal ganglia and dentate nuclei, the most appropriate term, according with them, would be bilateral striopallidodentate calcinosis.[1],[2]

The diagnosis of FD is challenging due to the rarity of the disease, normality of the laboratory values, and the variability of clinical manifestations. Diagnostic criteria for FD have been modified multiple times over the years and are based on case reports and original articles about families with FD. Saleem et al., in 2013, updated the last version of the diagnostic criteria.[1] In order to help medical students and professionals to remember the last version of the criteria, we proposed the acronym F.A.H.R.S. The fourth and fifth decade of life is the age of onset of progressive neurologic dysfunction, absence of biochemical abnormalities, history in family, more commonly autosomal dominant, reject diagnosis if infectious, toxic or traumatic cause can explain the calcifications, symmetrical calcifications of basal ganglia and dentate nuclei, and other regions can also be affected.

The cause of the calcifications and its localization in the basal ganglia and dentate nuclei are not well understood, although studies have shown calcium deposits in the vessel walls and perivascular spaces within the involved region.[8] The pathophysiologic mechanism suggested is an initial metabolic or inflammatory local damage, which subsequently suffers a process of calcification.[9] Even though the most common sites of calcifications are basal ganglia and dentate nuclei of the cerebellum, they can also occur in the thalami, centrum ovale, and cerebral cortex.[10]

A wide range of clinical manifestations is seen in sporadic FD and also in familial FD.[3] However, the most common presentation is movement disorder in 55% of the patients, followed by cognitive impairment and cerebellar symptoms. Of the movement disorders, hypokinetic ( Parkinsonism More Details) has been present in 57% of the cases, while approximately 40% of the participants presented hyperkinetic disorder (chorea 19%, tremor 8%, dystonia 8%, athetosis 5%, and orofacial dyskinesia 3%). Neuropsychiatric manifestations include psychotic symptoms, mood disorders, irritability, aggression, cognitive deterioration, and personality disorder.[4],[5]

The description of the symptomatic progression in FD has been uncommon in the literature. Most part of the studies describe clinical manifestations without mentioning their period of onset, giving the impression of a simultaneous begin of the symptoms. However, the individual of the above case had cognitive impairment as the only initial symptom. Even though dementia is present in almost half of all individuals diagnosed with FD,[1],[2],[4],[5] pure dementia at the onset of FD (without movement disorders) has been rarely reported in the literature. We identified four cases after a review of the English-language published literature, and we compared them with the present case [Table 1].[5],[6],[11],[12] A literature search was performed in Embase, Google Scholar, Lilacs, Medline, Scielo, and Science Direct, using a set of terms that included FD, dementia, and bilateral striopallidodentate calcinosis.
Table 1: Case reports of patients with pure dementia as an early isolated symptom of Fahr's disease

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The onset with pure cognitive impairment increases substantially the difficulty of the diagnosis, since many types of dementia may occur with normal laboratory values, which brings even more importance to the role of neuroimaging in the differential diagnosis.

In this context, several imaging methods have already been tested in FD, like single proton emission CT, which revealed decreased perfusion to the basal ganglia;[13] dopamine autotransporter scan, which showed a disclosed an unexpected unilateral putamen involvement despite substantially symmetric calcifications;[14] F-fluorodeoxyglucose positron emission tomography/CT (PET/CT) was also performed in an Italian study. The PET scan showed deficit of uptake in both caudate nuclei and in CT, diffuse calcifications of the basal ganglia were seen bilaterally, along with concomitant calcifications of subcortical regions of both hemispheres and the cerebellum.[15] Noncontrast CT scan is largely available and is highly sensitive to show calcium deposits in FD.[16] It is worth mentioning that calcifications in the basal ganglia are relatively common in the general population. Therefore, neuroimaging alone is not enough to make the diagnosis.[1],[2]

There is neither a standard treatment nor a cure to FD. Currently, the therapeutic goal is symptomatic management. The prognosis is unpredictable and variable.[1],[2]

  Conclusion Top

FD can present as unusual pure dementia at onset, which reflects the wide range of neurological manifestations present in this disease. Thus, the diagnosis is challenging and the acronym F.A.H.R.S. might be useful for medical students and professionals, since it promotes the easy learning of the key features of the disease in an effective way. Noncontrast cranial CT scan helps to establish the diagnosis.

Declaration of patient consent

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

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Conflicts of interest

There are no conflicts of interest.

  References Top

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
Manyam BV. What is and what is not 'fahr's disease'. Parkinsonism Relat Disord 2005;11:73-80.  Back to cited text no. 2
Ashtari F, Fatehi F. Fahr's disease: Variable presentations in a family. Neurol Sci 2010;31:665-7.  Back to cited text no. 3
Manyam BV, Walters AS, Narla KR. Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry. Mov Disord 2001;16:258-64.  Back to cited text no. 4
Benke T, Karner E, Seppi K, Delazer M, Marksteiner J, Donnemiller E. Subacute dementia and imaging correlates in a case of fahr's disease. J Neurol Neurosurg Psychiatry 2004;75:1163-5.  Back to cited text no. 5
Calabrò RS, Spadaro L, Marra A, Bramanti P. Fahr's disease presenting with dementia at onset: A case report and literature review. Behav Neurol 2014;2014:750975.  Back to cited text no. 6
Fahr I. Idiopathipathische verkalking der hirume fasse. Zbl Allf Path 1930;50:129-33.  Back to cited text no. 7
Duckett S, Galle P, Escourolle R, Poirier J, Hauw JJ. Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): Electron probe study. Acta Neuropathol 1977;38:7-10.  Back to cited text no. 8
Avrahami E, Cohn DF, Feibel M, Tadmor R. MRI demonstration and CT correlation of the brain in patients with idiopathic intracerebral calcification. J Neurol 1994;241:381-4.  Back to cited text no. 9
Manyam BV, Walters AS, Keller IA, Ghobrial M. Parkinsonism associated with autosomal dominant bilateral striopallidodentate calcinosis. Parkinsonism Relat Disord 2001;7:289-95.  Back to cited text no. 10
Modrego PJ, Mojonero J, Serrano M, Fayed N. Fahr's syndrome presenting with pure and progressive presenile dementia. Neurol Sci 2005;26:367-9.  Back to cited text no. 11
Weisman DC, Yaari R, Hansen LA, Thal LJ. Density of the brain, decline of the mind: An atypical case of fahr disease. Arch Neurol 2007;64:756-7.  Back to cited text no. 12
Uygur GA, Liu Y, Hellman RS, Tikofsky RS, Collier BD. Evaluation of regional cerebral blood flow in massive intracerebral calcifications. J Nucl Med 1995;36:610-2.  Back to cited text no. 13
Caranci G, Grillea G, Barbato F, Brunetti A, Tassinari T, Di Ruzza M, et al. Scintigraphic, neuroradiological and clinical comparison in two patients with primary sporadic and two with secondary fahr's disease. Neurol Sci 2011;32:337-41.  Back to cited text no. 14
Calabria F, Ciccariello G, Falcone C, Cascini GL, Schillaci O. A case of fahr's disease examined by multi-modal imaging. Eur J Nucl Med Mol Imaging 2015;42:2098-9.  Back to cited text no. 15
Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson DR, Calne DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging, and electrophysiological studies. Ann Neurol 1992;31:379-84.  Back to cited text no. 16


  [Figure 1]

  [Table 1]

This article has been cited by
1 Fahrís Syndrome Presenting As Pre-senile Dementia With Behavioral Abnormalities: A Rare Case Report
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[Pubmed] | [DOI]


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