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CASE REPORT Table of Contents  
Ahead of print publication
A case of schizophrenia-like psychosis due to Fahr's disease

1 Assistant Professor, Department of Psychiatry, Mahatma Gandhi Medical College, Puducherry, India
2 Assistant Professor, Department of Psychiatry, Christian Medical College, Ludhiana, Punjab, India
3 Senior Resident, Department of Psychiatry, Balaji Medical College, Chennai, Tamil Nadu, India

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Date of Submission13-Feb-2022
Date of Acceptance19-Mar-2022
Date of Web Publication17-Jun-2022


Fahr's disease is a rare degenerative neurological disorder, characterized by bilateral symmetrical cerebral calcification and presents with different manifestations. We present the case of a 42-year-old male who presented with psychotic feature, mannerisms, and bilateral symmetrical calcification of basal ganglia. Hence, our case suggests that psychiatrists should evaluate the cases of psychosis thoroughly when the age of presentation is atypical and they should rule out organicity. Neuroimaging may help arrive at the correct diagnosis in patients presenting with psychiatric symptoms.

Keywords: Fahr's disease, psychosis, schizophrenia

How to cite this URL:
Vimalanathane M, Abhilasha P, Prasad A. A case of schizophrenia-like psychosis due to Fahr's disease. Arch Ment Health [Epub ahead of print] [cited 2023 May 28]. Available from: https://www.amhonline.org/preprintarticle.asp?id=347736

  Introduction Top

Fahr's syndrome, also known as idiopathic basal ganglia calcification or Fahr's disease, is a rare neurological disorder characterized by abnormal calcified deposits in the basal ganglia[1] It was first reported by Karl Theodor Fahr in the year 1930.[2] The term “Fahr's disease” is used when primary familial brain calcification is present and the term Fahr's syndrome is used for secondary causes.[3] The prevalence rate is <1/1,000,000 and is mainly sporadic or an inherited neurological disorder.[4] There are various causes[5] that might lead to Fahr's syndrome which includes endocrine, adult onset neurodegenerative conditions, infectious diseases, and early onset syndrome. Endocrine abnormalities include variations in parathyroid hormones, calcium metabolism, hypothyroidism, Grave's disease, hyponatremia, and phosphate alterations. The neurological causes include neurodegeneration with brain iron accumulation disease, neuro-ferritinopathy, and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. The infectious disease includes intrauterine and perinatal infections. Early onset syndrome includes tuberous sclerosis and  Brucellosis More Details. Psychiatric symptoms include paranoid ideation, low mood, delusions, and auditory and visual hallucinations.[6] Here, we report the case of Fahr's syndrome to help clinician's especially mental health professionals to rule out organic causes when there is a presentation of atypical psychotic symptoms.

  Case Report Top

A 42-year-old male presented to the psychiatry outpatient department with a history of suspiciousness, irrelevant talking, irritability, muttering to self and decreased sleep from the past 1 month. He was admitted in the psychiatry ward for complete evaluation and treatment. Family history of psychosis present in maternal uncle. No medical illness in the family. On physical examination, mannerisms were present. On mental status examination, there was difficulty maintaining eye contact and rapport. He had increased psychomotor activity, mood was irritable, circumstantial and tangential speech along with delusion of reference and persecution was present. His judgment, abstract thinking and memory were also distorted. Laboratory investigations, including hemogram, blood biochemistry including serum calcium levels, parathyroid hormone levels, liver function tests, renal function tests, thyroid function tests, electroencephalogram, and electrocardiogram were within the normal units. As the age of onset of psychosis was late, noncontrast computerized tomography of the brain was done which demonstrated bilateral symmetrical calcification of Caudate nucleus, lenticular nucleus, thalami, subcortical white matter in parietal and frontal lobes, cerebellar hemisphere including the region of dentate nucleus [Figure 1], [Figure 2], [Figure 3]. Considering the atypical age of onset of psychosis, normal parathyroid functioning, lack of family history of basal ganglia calcification a diagnosis of Fabry's disease (FD) was considered. Neurology opinion was sought and conservative management was advised for the patient. Because of his overt psychotic symptoms, the patient was started on tablet olanzapine 5 mg/day which was slowly increased over time and tablet pacitane 2 mg/day. The patient's psychotic symptoms gradually improved over a period of 8 weeks.
Figure 1: Bilateral cerebellar dentate nuclei calcifications

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Figure 2: Bilateral basal ganglia calcification

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Figure 3: Bilateral caudate nuclei calcifications

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  Discussion Top

Brain calcification in Fahr's syndrome is widespread at various sites; therefore, there is a high frequency of neurological symptoms. If Fahr's syndrome is detected many causes such as infectious, congenital, metabolic, endocrine, idiopathic causes have to be ruled out[7] The presentation of Fahr's and its association could be extremely vague. Psychotic symptoms can be due to other diseases other than psychiatric symptoms. After clinically diagnosing a patient with schizophrenia, it is always important to rule out organic symptoms as well as drug abuse and toxicities.[8] Although Fahr's is a rare idiopathic disease, with adequate understanding of its clinical features a diagnosis can be made in time. The clinical criteria to diagnose Fahr's syndrome include bilateral calcification on CT brain, autosomal dominant inheritance, absence of any infection, toxin or drug, absence of mitochondrial dysfunction, and presence of progressive neurological dysfunction.[9] In FD psychotic presentation includes visual hallucinations, paranoid delusions, auditory hallucinations, ideas of reference or influence, catatonia and fugue states also have been observed. The patterns of psychotic presentation are in two forms in FD, including early onset (mean age 30.7 years) with minimal movement disorder and late onset (mean age 49.4 years) with movement disorder and dementia.[10] In FD, there could be asymptomatic neurological symptoms such as lacking movement disorders, seizures, or stroke. Our patient presented with psychotic features only. Clinical diagnosis of FD was done by combining clinical features, brain imaging, and exclusion of other causes of intracranial calcification. The presence of small bilateral intracranial calcifications which are usually restricted to globus pallidus is the most common radiologic feature of FD, but it may also affect putamen, caudate nucleus, thalamus, dentate and white matter of cerebral hemispheres.[11] There is no standard treatment or cure for FD. Psychotic features can be managed symptomatically. Patients are very much prone to neuroleptic malignant syndrome when they are treated with antipsychotics. The response to antipsychotics differs from patient to patient[12] Atypical antipsychotics could be used which has less extrapyramidal side effects because FD itself causes extra-pyramidal symptoms.

Hence, our case suggests that psychiatrists should thoroughly evaluate the case of psychosis if the age of presentation is atypical and should consider the diagnosis of FD when psychosis presents with motor abnormalities. It is also very important as a psychiatrist to advocate the appropriate use of neuroimaging in the diagnosis of various psychiatric disorders. Neuroimaging may help arrive at the correct diagnosis in patients presenting with psychiatric symptoms. Such symptoms may be caused by neurological diseases masking as psychiatric disorders currently considered to be primarily psychiatric in nature.

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 their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Lee YJ, Park S, Kim YW, Park KM, Kim IH, Park JH, et al. A case of seizure revealing Fahr's syndrome with primary hypoparathyroidism. Am J Case Rep 2018;19:1430-3.  Back to cited text no. 1
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, et al. Fahr's syndrome: literature review of current evidence. Orphanet journal of rare diseases, 2013;8:156. https://doi.org/10.1186/1750-1172-8-156.  Back to cited text no. 2
Perugula ML, Lippmann S. Fahr's disease or Fahr's syndrome? Innov Clin Neurosci 2016;13:45-6.  Back to cited text no. 3
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. 4
Mittal A, Agrawal BK, Mittal A, Gupta P, Jain A. Fahr's syndrome: A rare case of idiopathic basal ganglia calcification. JIACM 2010;11:239-41.  Back to cited text no. 5
Naqvi S, Arshad S, Hanif R, Elfert KA. Fahr's syndrome misdiagnosed as schizophrenia: A case report. Cureus 2017;9:e1071.  Back to cited text no. 6
Seidler GH. Psychiatric and psychological aspects of Fahr syndrome. Psychiatr Prax 1985;12:203-5.  Back to cited text no. 7
Cassiani-Miranda CA, Herazo-Bustos M, Cabrera-González A, Cadena-Ramos I, Barrios-Ayola F. Psychosis associated with Fahr's syndrome: A case report. Rev Colomb Psiquiatr 2015;44:256-61.  Back to cited text no. 8
El Hechmi S, Bouhlel S, Melki W, El Hechmi Z. Psychotic disorder induced by Fahr's syndrome: A case report. Encephale 2014;40:271-5.  Back to cited text no. 9
Mohapatra S, Satapathy A. A case of schizophrenia like psychosis due to Fahr's disease. Indian J Psychol Med 2016;38:155-6.  Back to cited text no. 10
  [Full text]  
Joyce SP, Samson YY, Yiu GC, Wing YK. Fahr's disease: A differential diagnosis of frontal lobe syndrome. Hong Kong Med J 2007;13:75-7.  Back to cited text no. 11
Cummings JL, Gosenfeld LF, Houlihan JP, McCaffrey T. Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia. Biol Psychiatry 1983;18:591-601.  Back to cited text no. 12

Correspondence Address:
Pallavi Abhilasha,
Department of Psychiatry, Christian Medical College, Ludhiana, Punjab
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amh.amh_33_22


  [Figure 1], [Figure 2], [Figure 3]


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