Fahr's Disease: An Incidental Finding in a Case Presenting with Psychosis

Abstract

Fahr's syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We present a 24-year-old male with Fahr disease, presenting with psychosis and recurrent seizures of generalized tonic clonic type, but lacking evidence of a metabolic disorder. His neurological examination was normal. MRI Brain of the patient revealed symmetrical large areas and foci of calcification in bilateral basal ganglia, thalami, cerebellar paren-chyma and subcortical regions of bilateral cerebral hemispheres. When screening other family members, we detected Fahr syndrome in his elder brother with hypocalcemia. Fahr disease may present with psychosis, have pronounced posi-tive brain imaging findings. Magnetic Resonance Imaging can also be effective screening tool for adult relatives (Ger-man J Psychiatry 2010; 13 (2): 86-90).

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Reprinted from the German Journal of Psychiatry · http://www. gjpsy. uni-goettingen. de · ISSN 1433-1055
Case Report
Fahr’s Disease: An Incidental Finding in a
Case Presenting with Psychosis
S. Srivastava, Manjeet S. Bhatia, V. Sharma, S. Mahajan, G. Rajender
Department of Psychiatry, University College of Medical Sciences (UCMS) and
G. T. B. Hospital, Dilshad Garden, University of Delhi, India
Corresponding author: Dr. M. S Bhatia, 1 Naraina Vihar, New Delhi-110028, India
Abstract
Fahr’s syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We
present a 24-year-old male with Fahr disease, presenting with psychosis and recurrent seizures of generalized tonic
clonic type, but lacking evidence of a metabolic disorder. His neurological examination was normal. MRI Brain of the
patient revealed symmetrical large areas and foci of calcification in bilateral basal ganglia, thalami, cerebellar paren-
chyma and subcortical regions of bilateral cerebral hemispheres. When screening other family members, we detected
Fahr syndrome in his elder brother with hypocalcemia. Fahr disease may present with psychosis, have pronounced posi-
tive brain imaging findings. Magnetic Resonance Imaging can also be effective screening tool for adult relatives (Ger-
man J Psychiatry 2010; 13 (2): 86-90).
Keywords:
Fahr’s disease, familial, psychosis
Received: 13.4.2009
Revised version: 26.3.2010
Published: 21.6.2010
Introduction
ahr’s disease (FD) is a rare, degenerative, neurological
condition characterized by idiopathic calcification of
the
basal ganglia. This condition has been known
since the middle
1800s. The clinical manifestations of Fahr’s
disease vary. One definition proposed by Trautner et al.,
1988 requires
bilateral calcifications with neuropsychiatric
and extrapyramidal
disorders with normal calcium and phos-
phorus metabolism. Bealle et al., 1989 gave another defini-
tion which had seizures, rigidity, and dementia with characte-
ristic
calcification of the basal ganglia.
Flint and Goldstein, 1992 opined that radiologists may view
basal ganglia calcification (BGC) as an incidental finding so
clinical findings associated with Fahr’s disease are important.
According to Rasmussen et al. (1991)
before age 50 inciden-
tal discovery of BGC merits diagnostic investigation. The
course
of Fahr’s disease is progressive as reported by Ni-
shiyama et al., 1991. In adult-onset FD, calcium deposition
generally begins in the third decade of life, with neurological
deterioration two decades later as reported by Manyam et al.,
1992, but BGC can also occur in
pediatric populations.
The basal ganglia and dentate nucleus are the most common
site of involvement and most cases present with extra pyra-
midal symptoms. This disease is mostly associated with a
phosphocalcic metabolism disorder, especially to hypopara-
thyroidism.
Defective iron transport and free radical production
may
damage tissue, initiating calcification. (Beall et al, 1989)In
adult-onset FD, calcium deposition
generally begins in the
third decade of life, with neurological
deterioration two
decades later, (Manyam et al, 1992) Reduced blood
flow to
calcified regions correlates with clinical signs. (Uygur et al,
1995) Symptoms develop when the deposits accumulate,
including progressive deterioration of mental function, loss
of previous motor development, spastic paralysis, and athe-
tosis. In addition, optic atrophy may occur.
About 40% of patients
with basal ganglia calcification
present initially with psychiatric features (Konig, 1989).
Cognitive, psychotic, and mood disorders are common.
Symptomatic features may change over time. More extensive
calcification and subarachnoid space dilatation are known to
correlate with
the presence of psychiatric manifestations
(Konig et al, 1989).
F

FAHR’S DISEASE
87
Case report
A 24 year old Hindu male, presented to outpatient clinic of
tertiary care centre (Guru Tegh Bahadur Hospital & Univer-
sity College of Sciences, Delhi) with recent onset complaints
of aggressive behavior and use of abusive language with
friends and family. Relatives also revealed behaviours as
smiling to himself, talking to himself, talking to ghosts and
being afraid of other people. Recently his sleep pattern had
also become quite irregular, sleeping for only three hours a
day. On further evaluation, the patient also revealed history
suggestive of obsessive behaviors (repeatedly cleaning uten-
sils) four years back and history of seizure disorder since last
ten years. Patient had generalized tonic clonic seizures with
loss of consciousness. Apparently his scholaristic perfor-
mance was good till sixth grade but sub-
sequently there was gradual deterioration
and he had failed his tenth class examina-
tions. His neurological examination was
normal. His mental status examination
revealed delusion of persecution, auditory
hallucinations as two or more voices
discussing among themselves and com-
manding the patient. These findings were
suggestive of psychosis, resembling schi-
zophrenia and patient had difficulty in
describing these experiences.
He had three more siblings, an elder
brother and two sisters. His elder brother
(29 years old) also had similar complaints
of recurrent seizures attacks since age of
seven years and also had poor academic
performance. He had a complaint of
knock knee since the age of twelve years.
His social behavior was otherwise normal
to others. His other two sisters had no
neuro-psychiatric complaints. There was
no history of similar complaints in any
other relatives.
MRI Brain of the patient revealed symme-
trical large areas and foci of calcification
in bilateral basal ganglia, thalami, cerebel-
lar parenchyma and subcortical regions of
bilateral cerebral hemispheres which were
suggestive of Fahr’s disease in the patient
(Figure 1) MRI findings of elder brother
also showed symmetrical calcifications in
bilateral gangliothalamic complexes, both
cerebral and cerebellar hemispheres in-
cluding dentate nuclei with confluent
white matter hyper intensity in both cen-
trum semiovale region, findings sugges-
tive of most probably Fahr’s disease in
elder brother (Figure 2).
Blood investigations were within normal
range for the patient though elder brother
had low serum calcium levels of 6mg/dl
(normal range of 8mg/dl-11mg/dl) and high serum phos-
phate levels of 7.7mg/dl (normal range of 3.0mg/dl-
5.0mg/dl) for elder brother.
The patient was initially prescribed paliperidone (6 mg/day),
haloperidol decanoate (50 mg) and sodium valproate
(1500mg/day) and clonazepam (1 mg) for control of agita-
tion. The psychotic symptoms responded poorly to the
initial treatment and as subsequently the diagnosis was con-
firmed amisulpride 200 mg/day was added. The patient
showed marked improvement over period of three to four
weeks, with psychotic symptoms decreasing and seizures
were controlled. Later family members could engage the
patient in farming activities. Six months after the initiation of
treatment, patient is functioning well as a farmer in village
with support of his brothers in the same profession.
Figure 1: MRI Image of the Patient
Figure 2: MRI Image of the Patient’s Elder Brothe
r

SRIVASTAVA ET AL.
88
Discussion
Fahr’s disease may present in familial form with history
suggestive of psychosis and generalised tonic clonic epilepsy
with intellectual decline. There was no evidence of hypocal-
caemia and hyperphosphatemia in the patient, though the
elder brother had such evidence and was suggested calcium
supplements by endocrinologist.
The patient lacked extrapyramidal symptoms or a metabolic
disorder and had normal neurological examination. Similar
cases have been reported by Kotan et al. (2009). With such a
clinical findings, the presentation of patient in early twenties
with recent onset of first episode psychosis with schizophre-
niform symptomatology can lead to misdiagnosis of schi-
zophrenia or acute transient psychotic disorder (ATPD),
especially in Asian country like India where ATPD is far
more commoner than schizophrenia.
The clinical expression of Fahr’s disease can vary greatly.
Symptom scan include features of psychiatric disorders,
epileptic seizures and dementia (Modrego et al 2005). But
other presentations have also been noted, like Simone et al.
(2008) reported case of Fahr’s disease with syncope and
pseudohypoparathyroidism.
About 40% of patients are known to present initially with
psychiatric features like this case, cognitive, psychotic, and
mood disorders are common Konig et al, 1989). Paranoid
and psychotic features often present between the ages of 20
and 40 in FD (Cummings, 1985). Two patterns of psychotic
presentation in FD are known, including early onset (mean
age 30.7 years) with minimal movement disorder and late
onset (mean age 49.4 years) attended by dementia and
movement disorder (Cummings et. al., 1983. This patient
had presented at 24 years with psychosis and no extra pyra-
midal involvement. Symptoms included auditory hallucina-
tions, perceptual distortions and paranoid delusions which
have been associated with FD (Rosenberg et al 1991). As in
our case schizophreniform psychoses have been reported to
present in familial FD (Francis et al, 1984).
On initial brief evaluation in walk in clinic, the patient was
initially prescribed paliperidone and haloperidol depot by
senior registrar, as there was possibility of poor compliance.
As mentioned earlier, the presentation of patient in early
twenties with recent onset of first episode psychosis with
schizophreniform symptomatology in India raises possibility
of diagnosis of ATPD which is far more commonly seen in
outpatient clinics than schizophrenia. But as psychosis in
setting of FD is known to respond variably to treatment and
is sometimes unresponsive (Cummings et. al., 1983). This
patient also responded poorly to initial treatment and as
diagnosis was confirmed, amisulpiride was added as these
patients are known to have high propensity of developing
extrapyramidal symptoms due to basal ganglia involvement
(Francis, 1979. Subsequently the psychotic symptoms re-
sponded well to treatment over three to four weeks with
improvement of occupational functioning. Six months later
patient is on maintainance treatment, has no psychotic fea-
tures or seizures and is functioning well in less challenging
occupation of farming in village with good social support.
The correction of phospho-calcium metabolism disorder led
to clinical improvement in brother, as also noted in other
cases (Abe et al., 1996). This case study emphasizes that
cases presenting with schizophreniform symptomatology,
even in countries with known high incidence of ATPD, must
be thoroughly investigated, family history be given due im-
portance and possibility of disorders presenting with protean
clinical manifestations as Fahr’s disease be considered.
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