Fahr disease with congenital cavum variants

Case 11853 Fahr's syndrome with congenital cavum variants

Muhammad Asim Rana , Ahmed F. Mady , Omar E. Ramadan , Intekhab Ahmed , Waleed T.1 1 1 1

Hashim , Abdulrehman Alharthy , Mostafa Yaseen , Tarik M. Alsaqat , Ahmed F. Farakha , Dina1 1 1 2 2

M. Khalil 2

King Saud Medical City, Riyadh Saudi Arabia

Neuroradiology Section: 2014, Jun. 13 Published:

19 year(s), malePatient:

Authors' Institution

1. King Saud Medical City, Riyadh Saudi Arabia

2. Prince Salman Hospital, Riyadh, Saudi Arabia

Email:[email protected]

Clinical History

Patient admitted via ER in status epilepticus developed cardio-respiratory arrest because of hypoxia,

15 minutes CPR done. History of abnormal movements started a few months ago and seizures for

the last two weeks. Family history of abnormal movements in brother who died five years ago

undiagnosed. No previous investigations available.

Imaging Findings

Non enhanced CT Brain showing extensive bilateral calcifications involving the basal ganglia,

thalami and subcortical white matter of both cerebral and cerebellar hemispheres in symmetric

fashion, compatible with Fahr's disease.

Cavum variants, "cavum septum pellucidum" and "cavum vergae" are also seen.

Infarct involving the right and left occipital lobes and right cerebellar hemisphere are seen. The area

of involvement corresponds to the posterior circulation territory.

No signs of intracranial hemorrhage are seen.

The ventricular size is prominent for the patient's age without any mid-line shift. Basal cisterns

appear normal. Mastoid air cells are sclerotic bilaterally.

Discussion

Fahr disease also called Idiopathic Basal Ganglia Calcification is a rare inherited disorder

characterized by abnormal deposits of calcium (carbonate and phosphate) in movement controlling

areas of the brain. First described by German neurologist Karl Theodor Fahr in 1930 [1]

Genetic heterogeneity is suggested in this disease[2] as latest research has identified a locus at

14q[3], second on chromosome 8[4] and third on chromosome 2[5]. A mutation in the gene

encoding the type 3 sodium dependent phosphate transporter 2 (SLC20A2) located on chromosome

8 has been reported suggesting that phosphate transport is involved.[6]

Basal ganglia calcification may occur in several other known conditions [7-10].

The disease usually manifests itself in 3rd to 5th decade but may appear earlier. It usually presents

with gait ataxia, slurred speech, involuntary movements, and seizures. Neuropsychiatric symptoms

range from changes in personality to psychosis and dementia[11].

Calcification commonly affects lenticular nucleus especially globuspallidus but caudate, dentae,

putamen, and thalami are also involved (Fig 1d, 2a). Sometimes it may predominate regions outside

the basal ganglia (See Fig2b, 2c). Classification seems to be progressive and can involve cerebellar

gyri, brain stem, and subcortical white matter (Fig 3b, 3c).

Diagnosis requires the following criteria:

1) Bi lateral basal ganglia calcification

2) Progressive neurologic dysfunction

3) Absence of an alternative cause (Metabolic, Infectious, Toxic, or Traumatic)

4) A positive family history consistent with autosomal dominant inheritance.

The diagnosis is usually made on CT scan but calcification may be visible on plain x-ray films of

the skull.

All these criteria were met in our case. The work up to search for an alternative cause including

investigations like calcium, phosphorus, magnesium, alkaline phosphatase, calcitonin and

parathyroid hormone were normal. The infarcts found in the CT were probably related to hypoxic

ischemic event i.e. long CPR.

There is currently neither a known cure nor a standard course of treatment for Fahr's Syndrome

except symptomatic control. Some data suggests that haloperidol or lithium carbonate may help

with psychotic symptoms [12] and some improvement was shown with bisphosphonate[13].

Genetic counseling may help to avoid passage of this disease in future generations.

The prognosis of this disease is variable and cannot be predicted easily because there is no reliable

correlation among age, extent of calcium deposits in the brain, and neurologic deficit. A CT scan

can be negative in a gene carrier.

Progressive neurological deterioration results in disability and death.

Additional incidental findings in our case were presence of cavum variants, cavum septum

pellucidum (Fig2b, 2c) and cavum vergae (Fig3a, 3b, 3c).

Final Diagnosis

Fahr's Syndrome with incidental finding of congenital cavum variants

Differential Diagnosis List

Idiopathic calcification as in aging, Toxic calcification as in lead poisoning and mineralizing

microangiopathy, Calcifications from infections like TORCH, CNS Tuberculosis, AIDS,

Neurocysticercosis, Inherited like mitochondrial diseases e.g. MELAS, Cockayne syndrome

Figures

Figure 1 Fahr Syndrome

CT Scan Brain showing sclerotic air cells © Rana M. A. King Saud Medical City, Riyadh, Saudi Arabia

Area of Interest: Head and neck; Imaging Technique: CT;

Procedure: Imaging sequences; Special Focus: Calcifications / Calculi;

Scattered calcifications and ischemic changes in posterior circulation area. © Rana M. A. King Saud Medical City, Riyadh, Saudi Arabia



CT Brain (Plain) Bilateral calcifications including right basal ganglia involvement can beappreciated.

© Rana M. A. King Saud Medical City, Riyadh, Saudi Arabia


Procedure: Imaging sequences;

Special Focus: Calcifications / Calculi;

Non enhanced CT Brain image showing bilateral basal ganglia and thalami calcifications.Ischemic changes in posterior circulation territory are also evident.




Figure 2 Fahr Syndrome and cavum variant cavum septum pellucidum

Non contrast enhanced CT Brain showing bilateral basal ganglia and frontal lobe

calcifications, changes typical of Fahr's disease. Additional finding of Cavum variant,"cavum septum pellucidum" can be appreciated.



Procedure: Imaging sequences; Special Focus: Congenital;

Another axial cut of plain CT Brain with bilateral basal ganglia, thalami and frontal lobecalcifications. Cavum septum pellucidum can be identified more clearly.




Extensive bilateral calcification involving basal ganglia, thalami and subcortical whitematter.




Figure 3 Fahr Syndrome and cavum variant cavum vergae

Bilateral calcifications are evident in basal ganglia, thalami and cortex. Cavum variant,"cavum vergae" is seen.




Bilateral calcifications are evident in cortex. Cavum vergae can be seen. © Rana M. A. King Saud Medical City, Riyadh, Saudi Arabia



Scattered calcifications are evident in cortex. Cavum vergae can be appreciated.




References

[1] Fahr, T. (1930) IdiopathischeVerkalkung der Hirngefässe ZentralblattfürallgemeinePathologie

und pathologische Anatomie 50: 129-133.

[2] 2) Oliveira JR, Spiteri E, Sobrido MJ, et al. (2004) Genetic heterogeneity in familial idiopathic

basal ganglia calcification (Fahr disease) Neurology Neurology63 (11): 2165-7.

[3] Geschwind DH, Loginov M, Stern JM (1999) Identification of a locus on chromosome 14q for

idiopathic basal ganglia calcification (Fahr disease) Am. J. Hum. Genet. 65(3):764-772.

[4] Dai X, Gao Y, Xu Z, et al. (2010) Identification of a novel genetic locus on chromosome

8p21.1-q11.23 for idiopathic basal ganglia calcification Am. J. Med. Genet. B

Neuropsychiatr.Genet. 153B (7): 1305-10.

[5] Volpato CB, De Grandi A, Buffone E, et al. (2009) 2q37 as a susceptibility locus for idiopathic

basal ganglia calcification (IBGC) in a large South Tyrolean family J. Mol. Neurosci. 39 (3):

346-53.

[6] Wang C, Li Y, Shi L, et al. (2012) Mutations in SLC20A2 link familial idiopathic basal ganglia

calcification with phosphate homeostasis Nat. Genet. 44 (3): 254-6.

[7] Niwa A, Naito Y, Kuzuhara S (2008) "Severe cerebral calcification in a case of LEOPARD

syndrome" Intern. Med. 47 (21): 1925-9.

[8] Preusser M, Kitzwoegerer M, Budka H, Brugger S (2007) Bilateral striopallidodentate

calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding

hypoparathyroidism Neuropathology 27 (5): 453-6.

[9] Saito Y, Shibuya M, Hayashi M, et al. (2005) Cerebellopontine calcification: a new entity of

idiopathic intracranial calcification? ActaNeuropathol. 110 (1): 77-83.

[10] Tojyo K, Hattori T, Sekijima Y, Yoshida K, Ikeda S (2001) A case of idiopathic brain

calcification associated with dyschromatosissymmetricahereditaria, aplasia of dental root, and aortic

valve sclerosis RinshoShinkeigaku 41 (6): 299-305

[11] Chiu HF, Lam LC, Shum PP, Li KW (1993) Idiopathic calcification of the basal ganglia

Postgrad Med J. 69 (807): 68-70.

[12] Munir KM. (1986) The treatment of psychotic symptoms in Fahr's disease with lithium

carbonate J ClinPsychopharmacol. 6 (1): 36-8.

[13] Loeb JA (1998) Functional improvement in a patient with cerebral calcinosis using a

bisphosphonate Mov.Disord. 13 (2): 345-9.

Citation

Muhammad Asim Rana , Ahmed F. Mady , Omar E. Ramadan , Intekhab Ahmed , Waleed T.1 1 1 1

Hashim , Abdulrehman Alharthy , Mostafa Yaseen , Tarik M. Alsaqat , Ahmed F. Farakha , Dina1 1 1 2 2

M. Khalil (2014, Jun. 13) 2

Fahr's syndrome with congenital cavum variants {Online}URL: http://www.eurorad.org/case.php?id=11853

Fahr disease with congenital cavum variants

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