Ospital ng Maynila Medical Center | Department of Internal Medicine and Intensive Care Unit

Case Series

A Random Glitch: A Case Series Report of FAHRS DISEASE

Rizko Putra Pradana, MD
Abstract
Background: Fahrs Disease, a familial idiopathic
basal
ganglia
calcification,
is
a
rare
neurodegenerative disorder that characterized by
symmetrical and bilateral calcification of the basal
ganglia. Calcification may also occur in other brain
regions such as dentate nucleus, thalamus, and
cerebral cortex. Both familial and non-familial cases
of Fahrs disease have been reported predominantly
with autosomal-dominant fashion. The disease has a
wide range of Clinical presentations, predominantly
with neuropsychiatric features and movement
disorders. Psychiatric features reported in the
literature include: cognitive impairment, depression,
hallucination, delusions, manic symptoms, anxiety,
schizophrenia-like psychosis, and personality change.
Other clinical features include: Parkinsonism, ataxia,
headache, seizures, vertigo, stroke-like events,
orthostatic hypotension, tremor, dysarthria, and
paresis. Fahrs disease should be considered in the
differential diagnosis of psychiatric symptoms,
particularly when associated with movement disorder.
The disease should be differentiated from other
condition that can cause intracranial calcification. No
specific treatment is currently available. Further
research is needed to bridge the Gap existing in our
current knowledge of the prevalence, etiology,
symptoms, and treatment of Fahrs disease.1
Since Fahrs disease is considered as a rare disease,
and was ranked 4th among the rare disease

worldwide as published in the National Organization

for Rare Disorders (NORD). We would like to present
this case report, since during the latest 4 years in our
Institution, Ospital ng Maynila Medical Center, we
already had 2 cases of more than 50 year old female,
with different clinical symptoms, that all of them are
diagnosed as Fahr's disease. This case report will
discuse the comparation between those 2 cases.2

First Case Significant Findings:

initially during head movement but progressed during

rest prompting consult at ER. There was no history of
travel outside Manila, sexual history was
unremarkable and no associated comorbid
conditions.

Clinical Presentation:
A case of B. C., 59/F, Filipino, sari-sari store owner,
single from Malate Manila who complained of 5-day
history of dizziness associated with vomiting noted

Synopsis:
First case, is a case of 59 year old female, not known
hypertensive or diabetic with 5 day history of
dizziness and vomiting with no associated focal
weakness. She had normal physical examination
encompassing the neurologic, fundoscopic and
otoscopic finding. work-up revealed bilateral,
symmetrical calcification on the cerebellar and
cerebral area with normal normal serum calcium and
phosphate level.
Second case, is a case of 62 years old female, not
known hypertensive, or diabetic admitted for the
second time in this institution due to right sided body
weakness.in Neurologic physical examination, noted
to had shallow right nasolabial fold, shoulder shrug
R<L, tongue deviated to the left, with motoric of 3/5 in
all left extremities, and sensoric of 70% in all left
extremities. Work up revealed Extensive bilateral and
symmetrical calcifications involving the corpora
striatum, peripheral cerebral subcortical areas,
dentate nuclei and cerebellar parenchyma. Also Mild
cerebral atrophy, Multifocal areas of infarcts involving
the corona radiate. Noted also decreased serum
Calcium, normal Phospate level.

Pradana, 2014 | a Random Glitch, a CASE Series Report of FAHRS DISEASE

Physical Findings: physical examination revealed

stable vital signs of 120/70 mmHg,79bpm, 20 cpm,
36.5C. Neurologic examination was unremarkable
with normal fundoscopy and otoscopy.
Laboratory Work-up: Cranial CT showed symmetrical
foci of calcification involving the bilateral medial
cerebellar hemisphere, thalami, posterior limbs of
internal capsules and the periventricular white matter
with normal serum calcium and phosphorus level. 12L
ECG showed Non Specific ST- wave changes with no
evidence of shortening of QT interval as a finding of
hypercalcemic state. radiographic study of the chest,
skull and long bones showed no pathologic fractures,
calcification, deformity or tumor formation.
Diagnosis: With the spectrum of bilateral symmetrical
calcification with preference on the medial cerebellar
hemisphere, thalami, posterior limbs of internal
capsules and the periventricular white matter and
normal physical examination and complained of
dizziness and vomiting and no other significant
systemic manifestation, Fahr's Disease was
considered. There was no data published to diagnose
Fahr's disease but focus was to identify a probable
locus on chromosome 14q as its possible genetic
aberration.
Treatment: Initially, she was managed as a case of
Cerebrovascular diasease and given Citicholine, 1g
TIV q12, Captopril 25mg/tab, 1 tab q8 and 1 tab prn
for BP> 160/100, Simvastatin, 40 mg/tab, 1 tab OD as
HS, Cinnarizine, 75 mg/tab, 1 tab OD and Betahistine
16 mg/ tab I tab TID. On further work-up, CVD was
ruled out hence Citicholine was discontinued and only
medications for antivertigo with Simvastatin were
maintained.
Outcome: There was occasional dizziness at home,
however it was relieved after intake of Betahistine.
Second Case Significant Findings:
This is a case of 62 years old female, Filipino, Roman
Catholic,
married,
college
undergraduate,
unemployed, Tondo, Manila, admitted for the second
time in this institution due to right sided body

weakness. Known hypertensive for 5 years

maintained on Losartan 50mg/tab, 1 tablet OD with
good compliance. Known diabetic for 5 years,
maintained on Intermediate Insulin 12 units in AM and
8 units in PM with good compliance. S/P CVD with
mild right sided residuals MRS 1, S/P Total
Thyroidectomy (PGH, 2006) currently maintained on
L-thyroxine 50mg/tab 1 tablet OD with good
compliance.
Have progression of weakness of right upper
and lower extremities, noticed to have difficulty in
standing and ambulation. There was noted
progression of slurring of speech. Patient also had
difficulty in doing activities of daily livings using right
upper extremities such as eating, hair combing and
bathing and also had difficulty to speak, refferred to
finding the words to say. In 7 days prior to admission.
Then, 1 day prior to admission, patient was unable to
stand and ambulate.
Physical Findings: physical examination revealed
stable vital signs of 120/80 mmHg,89bpm, 17 cpm,
37.2 C. Neurologic examination noted to had shallow
right nasolabial fold, shoulder shrug R<L, tongue
deviated to the left, with motoric of 3/5 in all left
extremities, and sensoric of 70% in all left extremities.
Work up done and reveal: Cranial CT
showed Extensive bilateral and symmetrical
calcifications involving the corpora striatum,
peripheral cerebral subcortical areas, dentate nuclei
and cerebellar parenchyma. Also Mild cerebral
atrophy, Multifocal areas of infarcts involving the
corona radiate. Radiographic study of Pelvis AP/Hip
AP, Bilateral Thigh AP/L, Bilateral leg AP/L, only
shows Degenerative Osseous Changes., noted
normal level of intact parathyroid hormone, IRMA.
Noted decrease of Calcium and ionized Ca. On
Vitamin D elisa, noted normal level of vitamin D after
Calcium was corrected.
Diagnosis: with extensive bilateral and symmetrical
calcifications involving the corpora striatum,
peripheral cerebral subcortical areas, dentate nuclei
and cerebellar parenchyma. Also Mild cerebral
atrophy, Multifocal areas of infarcts involving the
corona radiate, noted decrease of Calcium and

Pradana, 2014 | a Random Glitch, a CASE Series Report of FAHRS DISEASE

Ionized Calcium, with normal level of intact

parathyroid hormone,
Fahr's Disease was
considered,
with
cerebral
infarction,
and
hypocalcemia secondary to vitamin D insufficiency.
Treatment: Since the patient was diagnosed on CVD,
she then managed as a case of Cerebrovascular
diasease and given Citicholine, 1g TIV q12, Clonidine
75mg/tab, 1 tab prn for BP> 160/100, Atorvastatin, 40
mg/tab, 1 tab OD as HS, (4)
Omeprazole
40mg IV OD. For s/p thyroidectomy, Levothyroxine
50mg/tab 2 tab OD given, and also Intermediate
Insulin 12 units in AM and 8 units in PM given for
T2DM. On further work-up, patient maintained on
calcium carbonate vitamin D 60mg/tab, 1 tab BID.
Outcome: At home, patient was apparently need help
on doing daily needs activity, although, patient can sit,
and laying down, by her selfs. Theres no other
complain, like dizziness, fever, change of behavioural,
headache, only weakness left, because of the CVD.
Discussion
Fahrs disease, also known as idiopathic basal
ganglia calcification, is characterized by accumulation
of calcium deposits in the regions of the basal
ganglia, which may also affect regions of the caudate
nucleus, the putamen, thalamus, the white matter,
and the cerebellum.
The appearance of calcium deposits, usually bilateral
and benign, is associated with genetic, metabolic, or
infectious changes. Among the pathologies that can
also cause calcium accumulation, one can highlight
hypothyroidism,
pseudo-hypothyroidism,
mitochondrial myopathy, Wilsons disease, lupus
erythematosus,
Down
syndrome,
and
neurobrucellosis. Despite this, some individuals
develop these calcium deposits and have no welldefined etiology, cases in which the cerebral
calcification is characterized as Fahrs disease.
The diagnosis of Fahrs disease is considered when
there is exclusion of other conditions that may also
cause bilateral calcification of the basal ganglia and
other brain regions. Brain imaging shows the
presence of whitish concentrated radiopaque regions
according to the affected area and with well-defined

areas, although the highest concentration is observed

in a particular region of calcification, such as the
basal ganglia.
Regarding the clinical findings on the disease, the
literature data show that there are changes in social
behaviour and motor functions, as well as motor and
phonic tics and inappropriate behavior according to
the situation experienced, features that imply
modifications in speech and orofacial motor functions.
The modifcation in speech is closely related to the
ability to communicate orally and motor coordination.
Patients with this disease show diffculty in articulating
sounds due to the inability to coordinate motor
functions. It is known that injury to brain areas,
especially those involving the coordination of
movements, maintenance of motor rhythm, and
muscle tone, such as the basal ganglia region, highly
affected by Fahrs disease, can result in changes in
muscle function, changing stomatognathic functions.
In this disease of oral expressiveness, the individual
has diffculty or inability to express themselves through
speech because of the difficulty in maintaining
speech. 3
In our cases, from first case, noted that the patient
chief complain was only dizzines, with associated
complain of vomiting, according to Literature 4 it said
that Fahr's disease Usualy present the clinical feature
at 40-60 year old. And it could present as a
Neuropsychiatric, extra pyramidal and cerebellar
symptoms, convulsive seizures, Parkinsonian
features, dementia and speech disorders. In our
patient, it present with dizzines, as we could assume
that as a cerebellar symptoms, however, Fahr's
disease can also present without pertinent sign and
symptoms.
However, at first, before the imaging work up done,
we considered patient as a case of CVD, since the
patient shows two of Symptoms of CVD (dizzines with
vomiting) even with Normal neuro Physical
examination finding, we still considered CVD,
therefore we treated the patient on cvd management,
citicolin was given. However, after getting the imaging
work up, shows cranial ct scan of symmetrical foci of
calcification involving the bilateral medial cerebellar

Pradana, 2014 | a Random Glitch, a CASE Series Report of FAHRS DISEASE

hemisphere, thalami, posterior limbs of internal

capsules and the periventricular white matter, we then
considered Fahr's disease as a diagnostic. Since the
pertinent findings of Fahr's disease is A bilateral,
symmetrical, intra cranial calcification characterizes
Fahrs disease with a predilection for the basal
ganglia and the dentate nuclei, we still have to rule
out other cause of calcification in adult female of 59
y.o.
The imaging findings of the symmetric and
extensive calcification are usually typical, as was
seen in our case. The disorders of calcium
metabolism may occur in association with the
intracerebral calcification.
Hypoparathyroidism,
pseudohypoparathyroidism and hyperparathyroidism
may be associated with the intracerebral calcification.
Other causes of the intracranial calcification include
infectious diseases like Toxoplasmosis and Syphilis
and inflammatory illnesses like SLE.
Upon other diagnostic, where the thyroid
function is normal, we then rule out possibility of hypo
and
pseudohypoparathyroidsm,
and
also
hyperparathyroidsm. Patient also did not present with
acute or chronic infection and inflammation, hence we
rule out autoimmune and infection cause. And after
we exclude other pathology that can caused
calcification, Fahr's disease was be assured to be our
diagnostic in this first case.
For our Second case,
Patient is a Frequent case of CVD, and also
had her total thyroidectomy at 8 years ago, and even
the patient took Levothyroxin as a maintenance, she
still prone to had hypothyroid or hyperthyroid. The
patient presented with left sided body weakness, and
also, with decrease of sensorium, hence we first
consider that it is a case of CVD, since patient had
her last admission of CVD too. Then, the imaging find
that there an extensive bilateral and symmetrical
calcifications involving the corpora striatum,
peripheral cerebral subcortical areas, dentate nuclei
and cerebellar parenchyma. Also Mild cerebral
atrophy, Multifocal areas of infarcts involving the

corona radiate. Therefore, we stayed at CVd as our

first diagnostic.
However, the thyroid function shows that the
patient is a hypothyroid, but we still consider a fahrs
disease as one of our diagnostic, until it proven not by
genetic diagnostic, since among the other cause of
calcification, Fahrs disease is the most etiology that
causing an extensive bilateral calcification, that
appear in our patient cranial ct scan imaging. Also, a
literature explain, that a Fahrs disease is a disease
that represent with a heterogenous group of
disorders, with combination of clinical features, brain
imaging, and also an exclusion from other disease.
We also considered the hypocalcemia as a cause
from vitamin D insufficiency.
Regarding the Dysarthria, it could be referred as a
CVD symptoms, but since the Fahrs disease also
could represent with difficulty of speaking, of getting
the word, we rather addressed the symptoms of the
patient to Fahrs diseases symptoms. And also, the
sign and symptoms of Fahrs disease is either
mimicking CVD cases or as a CVD case it self,
despite in our case that we had brain image finding of
Fahrs syndrome, and also brain image finding of
CVD. 5,6,7
The Management
Literature said that currently, there's no specific
management of Fahr's disease, and the management is
only fo sign and symptoms that come from it. Therefore, for
case 1, we only mantained her on Antivertigo. 8
However, this is different from second case, wich we
managed her on her hypothyroid, defficiency of vitamin D,
and also we managed her on cvd management, since the
present of the syndrome is heterogenous. In the second
case. We still had to do genetical work up, as explain in

ilterature that we had to do genetical work up, to

make a final diagnosis of Fahr's disease, and it is
linked to chromosom q14.9,10
Conclusion and Recommendations
Because Fahr's disease is a disease that has a
heterogenous syndrome's symptoms, but not present
on any other diseae that also cause brain
calcification, we had to be aware and put this
desease as a differential diagnosis, since this disease

Pradana, 2014 | a Random Glitch, a CASE Series Report of FAHRS DISEASE

has been seen in country. There have been clinically

asymptomatic patients with positive brain imaging
findings but the symmetry and areas of predisposition
for calcification are important clues for its diagnosis.

However, other causes of intracranial clacification

should be ruled out. There is neither a cure for Fahrs
disease, nor a standard course of treatment. The
prognosis is variable and hard to predict.

References
1. Familial idiopathic basal ganglia calcification (Fahrs Disease), Mufaddel AA, Al-Hassani GA, Neuroscience
(Riyadh) 2014 Jul 19 (3) 171-7
2. http://www.rarediseases.org/rare-disease-information
3. Dysfunctions of the stomatognathic system and vocal aspects in Fahr disease: case report, Karoline Weber
dos Santos 05/09/2013 CoDAS 2014;26(2):164-7
4. (athuyaa gelta, fahr's syndrome, an interesting case presentation, JCDR mar, 2013)Ramaraj, R and Sorrell,
VL. 2009.
5. Ataxic dysarthria revealing Fahr's syndrome and hypoparathyroidism. Hanen Loukil, Faten Frikha, Mouna
Snoussi, Raida Ben Salah, Sahar El Aoud, Zouhir Bahloul. Joint, Bone, Spine : Revue Du Rhumatisme
2014 Jul 18
6. Fahr syndrome unknown complication: overactive bladder. Devrim Tuglu, Ercan Yuvan, Fatih Bal, Yakup
Trkel, Ersel Da, Erdal Ylmaz, Ertan Batislam. Case Reports in Urology 2014; 2014 : 939268.
7. Catatonia and psychosis in a case suggesting Fahr's disease. Alexander Maley, Charles Hebert General
Hospital Psychiatry 2013 Jul; 35 (4) : 451.e11-3.
8. (Fahr's disease, a differential diagnosis of frontal lobe syndrome, Joyce SP, Hong Kong Med, J, 2007,13:759.

7)
(identification of Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification, (Fahr's disease),
Daniel H Geswind, Am. J. Hum Genet, 65:764-722, 1999)

10.

Fahr's syndrome: literature review of current evidence. Shafaq Saleem, Hafiz Muhammad Aslam,
Maheen Anwar, Shahzad Anwar, Maria Saleem, Anum Saleem, Muhammad Asim Khan Rehmani Orphanet
Journal of Rare Diseases 2013; 8 : 156.

Name of Fellow(s) in Authorship: Changco, MD

Complete Name of Presentor: Rizko Putra Pradana, MD
Institution: Ospital ng Maynila Medical Center
Telephone No: 09229906243
E-mail Address: r2o310@gmail.com