CASE REPORT

A case of psychosis due to Fahr’s syndrome and response to behavioral

disturbances with risperidone and oxcarbazepine
Abhijeet Dhawalram Faye, Sushil Gawande, Rahul Tadke, Vivek C. Kirpekar, Sudhir H. Bhave
Department of Psychiatry, NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital, Nagpur, Maharashtra, India

Abstract

Calcification of basal ganglia or Fahr’s syndrome is a rare disease characterized by bilateral and symmetrical
intracranial deposition of calcium mainly in cerebral basal ganglia. Motor and neuropsychiatric symptoms are prominent
features. We report a case presented with a few motor symptoms, features of delirium and prominent psychiatric
symptoms  (disorganized behavior) predominantly evident after the improvement in delirium. Radiological findings
were suggestive of bilateral basal ganglia calcification. Parathyroid hormone levels were low with no significant findings
in other investigations and negative family history. Patient showed significant improvement in behavioral disturbances
with risperidone, low dose of lorazepam, oxcarbazepine, and memantine.

Key words: Basal ganglia, calcification, Fahr’s syndrome, parathyroid hormone, psychiatric symptoms

INTRODUCTION deposits accumulate, including progressive deterioration of

Fahr’s syndrome is a rare[1] neurological disorder characterized
by abnormal deposits of calcium in areas of the brain that
control movement. Through the radio‑imaging (computed
tomography [CT] scans), calcifications are seen primarily
in the basal ganglia and in other areas such as the cerebral
cortex.[2] One definition proposed by Trautner et  al.
requires bilateral calcifications with neuropsychiatric
and extra‑pyramidal disorders with normal calcium and
phosphorus metabolism.[3] Beall et  al., 1989 gave another
definition which describes seizures, rigidity, and dementia
with characteristic calcification of the basal ganglia.[4] The
most commonly affected region of the brain is the lenticular
nucleus and in particular, the internal globus pallidus.[5] In
adult‑onset Fahr’s disease, calcium deposition generally
begins in the 3rd decade of life, with neurological deterioration
2 decades later.[6] Reduced blood flow to calcified regions
correlates with clinical signs.[7] Symptoms develop when the
Address for correspondence: Dr. Abhijeet Dhawalram Faye,
Department of Psychiatry (OPD‑10), 2nd Floor, OPD Building,
NKP Salve Institute of Medical Sciences and Lata Mangeshkar
Hospital, Digdoh Hills, Hingna Road, Nagpur ‑ 440 019,
Maharashtra, India.
E‑mail: dr.abhifaye@yahoo.co.in
mental function, loss of previous motor development, spastic
paralysis, and athetosis. In addition, optic atrophy may occur.
The disease usually manifests itself in the 3rd to 5th decade
of life, but may appear in childhood or later in life.[8]
Neuropsychiatric symptoms can be the first or the most
prominent manifestations ranging from mild difficulty in
concentration, memory changes in personality, behavior,
frank psychosis and dementia.[9]
About 40% of patients with basal ganglia calcification (BGC)
may present initially with psychiatric features.[10] Cognitive,
psychotic, and mood disorders are common. Symptoms
may change over time. More extensive calcification and
subarachnoid space dilatation are known to correlate with
the presence of psychiatric manifestations.[10]
Currently, there is no cure for Fahr’s syndrome, nor a
standard course of treatment. The available treatment is
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How to cite this article: Faye AD, Gawande S, Tadke R, Kirpekar

VC, Bhave SH. A case of psychosis due to Fahr’s syndrome DOI:
and response to behavioral disturbances with risperidone and
10.4103/0019-5545.130506
oxcarbazepine. Indian J Psychiatry 2014;56:188-90.

188 Indian Journal of Psychiatry 56(2), Apr‑Jun 2014

 Faye, et al.: Psychosis in Fahr’s syndrome
directed toward symptomatic control and treatment for
cause of calcification. The prognosis is variable and difficult
to predict. There is no reliable correlation between age,
extent of calcium deposits in the brain, and neurological
deficit. Progressive neurological deterioration generally
results in disability and death.
CASE REPORT
A 25‑year‑old married woman was brought by the mother
to psychiatry outpatient department with the complaints
of withdrawn behavior, headache, abnormal posturing,
and reduced sleep since around 15 days and sudden onset
altered behavior a night before during sleep, when patient
woke up, started screaming, went to wash room and
started inducing the vomiting. She was fearful and not
recognizing the family members and couldn’t sleep. The
episode lasted for the whole night and the next day she
was brought to the hospital. Family members denied any
stressor or organic antecedents before the start of illness.
There was no sociooccupational impairment according to
family members though the patient was symptomatic in
last 15 days. Patient did not report any depressive features,
delusions, or hallucinations. Mother also reported doubtful
history of abnormal jerky movements of lower limbs in sleep
with altered sensorium, only one episode that lasted for
4-5 min few months back. On examination in the outpatient
department, patient was found emaciated, not interacting,
not maintaining eye contact, maintaining abnormal posture,
was starring and bit drowsy. She was minimally responding
even to the painful stimuli. Patient was urgently referred
to Medicine Department, CT scan brain was done and the
patient was admitted to medicine intensive care unit (MICU).
The radiological findings showed bilateral symmetrical
dense/amorphous BGC with white and grey matter edema in
the left parietal and occipital region [Figure 1]. Based on the
clinical features and radiological signs, differential diagnoses
were considered as acute confusional state and cerebral
Figure 1: Computed tomography section of the patient
showing calcification in Basal ganglia region
Indian Journal of Psychiatry 56(2), Apr‑Jun 2014
edema with the possibility of tubercular meningitis, cerebral
malaria and viral meningitis. Patient was investigated
further for above conditions and meanwhile neurologist was
consulted who advised magnetic resonant imaging (MRI) and
electro‑encephalogram. Patient was started on antibiotics
and phenytoin. Patient remained in MICU for around 10 days
and was persistently confused, agitated, talking irrelevantly,
disoriented, sometimes not communicating at all and
maintaining abnormal posture. For behavioral control, she
was started on oral risperidone 0.5 mg and lorazepam
1 mg. Her cerebrospinal fluid examination revealed normal
study, patient was negative for malarial parasite, and serum
electrolytes were within normal range with normal liver and
kidney function tests. Serum calcium and magnesium levels
were within normal limits. MRI findings were suggestive
of inherited/acquired leukoencephalopathy with BGC and
associated mass effects on the left side of brain with grey
matter hypointensity. She was negative for HIV and hepatitis
B virus testing. Her hormonal study revealed normal thyroid
status with low level of serum parathyroid hormone. Slowly
there was an improvement in the features of delirium and
when she became medically stable, was transferred to
a psychiatry ward. In psychiatry ward patient was found
continuously pacing around, minimally interacting, had poor
self‑care and disorganized behavior (e.g. handling the feces),
irritable and anxious. But she was oriented in time, place and
person. She was inconsistent in her verbal responses with
rapid and unclear speech (dysarthric speech) and sometimes
words could not be understood. Her judgment, immediate
and recent memory was impaired and was not co‑operative for
remote memory testing. Doses of risperidone were increased.
In view of low parathyroid level, her ionic calcium levels
were done which came out to be within normal range (1.16
mmol/l). Endocrinologist’s opinion was taken and started on
treatment for hypoparathyroidism. Her past history revealed
one episodes of vomiting with abnormal jerky movements
of limbs around 4 years back. The details of treatment were
not available. Her family history was not significant. She was
educated up to HSC, was average in studies, married for
around 8 years and had a history of spontaneous abortion
around 2 years back. Her menstrual cycles were regular.
Based on above history and investigations, diagnosis of Fahr’s
syndrome (bilateral BGC, dysarthria and neuropsychiatric
symptoms) probably due to hypoparathyroidism was kept.
Patient showed partial improvement in behavioral symptoms;
hence, oxcarbazepine was added in a dose of 300 mg. Patient
responded (with risperidone, oxcarbazapine, lorazepam, and
memantine and treatment for hypo‑parathyroidism) in next
20 days and was discharged.
DISCUSSION
Fahr’s syndrome is mostly associated with a disorder of
calcium and phosphate metabolism, especially due to
hypoparathyroidism (HPT),[11‑14] but can also be due to other
different etiologies, including infectious, metabolic, and
189
 Faye, et al.: Psychosis in Fahr’s syndrome
genetic diseases.[15] Our patient did not have any abnormality
in calcium and phosphate levels, but parathyroid level
was low which may be the reason for BGC in our patient.
Furthermore, there was no family history of the disease.
The prevalence of Fahr’s syndrome is unknown, but an
incidence of BGCs ranging from 0.3% to 1.2% has been
reported in routine radiological examinations.[16,17]
This patient did not have extrapyramidal symptoms or a
metabolic disorder and had normal neurological examination
except for speech abnormality (dysarthria). Similar cases have
been reported in the literature.[18] The clinical expression of
Fahr’s disease can vary greatly. Symptoms can include features
of psychiatric disorders, epileptic seizures and dementia.[19]
However, other presentations have also been noted, like
Simone et  al. have reported a case of Fahr’s disease with
syncope and pseudo‑HPT.[20] Our patient showed features of
delirium and psychotic features in the form of muttering to
self, disorganized behavior, pacing around, and irritability.
Memory impairment was also observed in this patient and
mini mental status examination score was 18/30.
About 40% of patients are known to present initially with
psychiatric features and cognitive, psychotic, and mood
disorders are common.[10] Paranoid and psychotic features
often present between the ages of 20 and 40 in FD.[21] Two
patterns of psychotic presentation in Fahr’s disease are known,
including early onset (mean age 30.7 years) with minimal
movement disorder and late onset (mean age 49.4 years)
associated with dementia and movement disorders.[22] This
patient was presented at 25 years with psychosis and no
extra pyramidal involvement. With such clinical findings, the
presentation of a patient in early 20s with recent onset of
first episode of acute onset psychotic features can lead to
a misdiagnosis of acute transient psychotic disorder (ATPD),
especially in Asian countries like India where ATPD is very
common.[1] The treatment of Fahr’s syndrome is directed to
the identifiable cause[23] along with a symptomatic treatment.
Especially in HPT, the early treatment can prevent calcification
and neurophysiological disorders.[11,12,24] Our patient showed
response with Risperidone 1 mg, Lorazepam 2 mg and
Oxcarbazapine 300 mg in around 20 days. Studies show that
psychosis in setting of Fahr’s disease is known to respond
variably to treatment and is sometimes unresponsive.[22]
CONCLUSIONS
Psychiatrists should consider Fahr’s syndrome as a
differential diagnosis in the evaluation of psychosis
associated with atypical presentation and motor
abnormalities. This case further emphasizes the importance
of the role of neuroimaging and the search for disrupted
phosphocalcic metabolism and abnormal parathyroid levels
in patients with atypical psychotic symptoms. Judicial use
of risperidone and oxcarbazapine can definitely help in
controlling the behavioral symptoms in Fahr’s syndrome.
190
ACKNOWLEDGMENTS
We acknowledge our patient who consented for the case report
publication and head of the Department of Radiology who helped
us in understanding the radiological findings of the patient.
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Source of Support: Nil, Conflict of Interest: None declared
Indian Journal of Psychiatry 56(2), Apr‑Jun 2014