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CASE REPORT
Year : 2012  |  Volume : 11  |  Issue : 4  |  Page : 234-237  

Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): A case report and review of the literature


1 Department of Medicine, Ahmadu Bello University Teaching Hospital Zaria, Nigeria
2 Department of Radiology, Usmanu Danfodioyo University Teaching Hospital, Sokoto, Nigeria

Date of Web Publication24-Oct-2012

Correspondence Address:
Sani A Abubakar
Department of Medicine, Ahmadu Bello University Teaching Hospital, Zaria
Nigeria
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DOI: 10.4103/1596-3519.102855

PMID: 23103923

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   Abstract 

Bilateral calcification involving the basal ganglia (Fahr's disease) is a rare disease. A high index of suspicion is required to make clinical diagnosis; more so that the calcinosis may remain asymptomatic in a vast majority of cases. Movement disorder is by far the most common manifestation in symptomatic individuals. Fahr's disease is by no means absent in our environment, and increasing availability of a computed tomography-scan machine in Nigeria may enhance the case identification of Fahr's disease. This review presents a case of bilateral strio-pallido-dentate calcification; it also affirms the fact that Fahr's disease could present with hyperkinetic movement disorder (chorea) in our setting.

   Abstract in French 

Calcification bilatérale impliquant les noyaux gris centraux (maladie de Fahr) est une maladie rare. Un indice de suspicion élevé est nécessaire pour faire le diagnostic clinique ; plus que la calcinose peut demeurer asymptomatique dans une grande majorité des cas. Trouble du mouvement est de loin la manifestation la plus commune chez les individus symptomatiques. La maladie de Fahr est absent pas du tout dans notre environnement et accroître la disponibilité d'une machine balayage de tomographie calculée au Nigeria peut améliorer l'identification de cas de maladie de Fahr. Cette revue présente un cas de calcification Eats-pallido-denté bilatérale ; Il confirme aussi le fait que la maladie de Fahr pourrait présenter avec trouble du mouvement hyperkinétique (chorée) dans notre environnement.
Mots clés: Noyaux gris centraux, calcification, maladie de Fahr, hemichorea, Calcinose Eats-pallido-denté

Keywords: Basal ganglia, calcification, Fahr′s disease, hemichorea, strio-pallido-dentate calcinosis


How to cite this article:
Abubakar SA, Saidu S. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): A case report and review of the literature. Ann Afr Med 2012;11:234-7

How to cite this URL:
Abubakar SA, Saidu S. Idiopathic bilateral strio-pallido-dentate calcinosis (Fahr's disease): A case report and review of the literature. Ann Afr Med [serial online] 2012 [cited 2014 Jul 23];11:234-7. Available from: http://www.annalsafrmed.org/text.asp?2012/11/4/234/102855


   Introduction Top


Fahr, a German pathologist from Hamburg, described in 1930 an 81-year-old patient with a long history of dementia who presented to the hospital with fever and immobility and, later, died. Examination of the brain revealed evidence of calcification in the striatum. [1] Although the description of bilateral basal ganglia calcification has previously been described, [2],[3] Fahr's name has become associated with all forms of bilateral calcification in the basal ganglia and other parts of the brain. Fahr's disease refers to idiopathic bilateral calcification of the basal ganglia. These symmetrical calcifications of the strio-pallido-dentate system are detectable in 0.7-1.2% of routine cerebral computed tomography (CT)-scan and may be caused by different conditions. [4],[5],[6] A review of the literature revealed that one-third of patients with bilateral strio-pallido-dentate calcinosis (BSPDC) were clinically asymptomatic, while the most common symptom was movement disorder. [7] We present here a case of idiopathic strio-pallido-dentate calcinosis presenting with hemichorea.


   Case Report Top


A 58-year-old woman presented with 3 weeks history of sudden involuntary movement involving the left side of her body. The above symptom started initially in the upper limb but progressed to involve the lower limb. It was characterized by involuntary, unsustained, irregular movements that flowed randomly from one body part to the other. The movement was typically choreoform, and was limited to the left side of the body. The movement disappeared with sleep. There was no alteration in her level of consciousness or seizures, but she had mild dysphagia and slurring of speech. She had no cognitive or psychiatric symptoms. No history suggestive of cerebrovascular disease or similar symptoms of movement in the past was recorded. There was also no family history of movement disorder. Her past medical history was significant for systemic hypertension and diabetes mellitus, which were poorly controlled (on metformin, nifedipine and moduretics). Examination revealed an anxious middle-aged woman with normal neurocognitve assessment (mini-mental state examination, 28/30) but had rhythmic flowing movement beginning from the left foot and later the whole of the left side of the body associated with motor impersistence; other aspects of the neurological examination were normal. Admission blood pressure was 160/100 mmHg, and the abdominal and chest examinations were unremarkable. A diagnosis of acute right hemispheric stroke involving the globus pallidus was made initially. The result of fasting plasma glucose was 10.7 mmol/L, while that of serum calcium was 9.5 mg/dL (8.8-10.2), albumin 3.8 g/dL, phosphate 3.5 mg/dL (2.5-4.9) and parathyroid hormone 17.2 pg/mL (15-65 pg/mL) were all normal. Brain CT-scan revealed areas of calcified densities in the basal ganglia, notably caudate nucleus, putamen and globus pallidus bilaterally, but were more on the right, as shown in [Figure 1], [Figure 2] and [Figure 3]. An assessment of idiopathic BSPDC presenting with hemiochorea was thus made. She was placed on tabs haloperidol 5 mg daily; blood pressure and diabetes were controlled on nifedipine, lisinopril and metformin, glibenclamide, respectively. The chorea responded remarkably and the patient was free of movement disorder by the eighth day on admission and was happily discharged home from hospital after 11 days of hospitalization. She is currently been followed-up in the medical out-patient unit.
Figure 1: Brain computed tomography scan showing bilateral calcification in the basal ganglia

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Figure 2: Calcification more prominent in the right basal ganglia

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Figure 3: Computed tomography scan of the brain showing calcifications in the basal ganglia, notably the globus pallidus

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   Discussion Top


Fahr's disease (BSPDC) is a rare neuro-mineral disease, and clinical manifestations are reported in the literature as individual case reports or as single family reports due to the clinical rarity of the disease. Various descriptive terms ranging up to 35 have been used to describe the same disease, [7] resulting in considerable confusion as to what constitute BSPDC. Availability of brain CT-scan has increased the number of case reports of intracranial calcification, and brain CT-scan is considered more sensitive than magnetic resonance imaging for finding calcified deposits in BSPDC. [8] Clinical and pathological criteria have been set forth for defining BSPDC. The clinical criteria require bilateral calcification of the basal ganglia with neuropsychiatric and/or extrapyramidal disorders associated with normal calcium and phosphate metabolism; [9] other criteria stipulate seizures, rigidity and dementia with characteristic calcification of the basal ganglia. [10] But, the Lowenthal pathological criteria for defining BSPDC include characteristic pallidal calcification evident on CT-scan and on macroscopic pathologic examination. [11] The index case above fulfilled the diagnostic criteria, having presented with movement disorder associated with bilateral basal ganglia calcification. The published data in the literature from three studies in which a large series of brain CT-scan were screened revealed an average incidence of 6.6 per 1000. [12],[13] Availability of a CT-scan machine in the region may result in increased detection of idiopathic BSPDC. BSPDC manifest as autosomal dominant, familial and sporadic disease. The genetic locus [14] is on chromosome 14q48. Parathyroid hormone abnormality appears to be the most common definable etiology for calcification of bilateral subcortical nuclei and white matter, but the mechanism of selective deposition of calcium and other trace element in the presence of normal serum parathyroid hormone, serum and cerebrospinal fluid (CSF) calcium and phosphate is not yet known. The most common manifestation of BSPDC is movement disorders (55%), of which  Parkinsonism More Details accounts for over half of all movement disorders while hyperkinetic movement disorders (chorea, tremor, dystonia, athetosis and orofacial dyskinesia) account for the rest. Cognitive impairment is the second most common manifestation, followed by cerebellar impairments and speech disorders. Overlap of neurologic manifestation such as hypokinetic movement disorder associated with cognitive impairment and cerebellar signs are often seen. [15] Clinical findings are important as clinicians and radiologists may view BSPDC as an incidental finding, but incidental discovery of BSPDC before the age of 50 years merits further diagnostic workup. [16] The course of BSPDC is progressive as calcium deposition generally begins in the third decade of life, with neurological deterioration two decades later. [8] It is important to note that BSPDC can also occur in the pediatric age group. Although calcification can involve other structures, globus pallidus is by far the most common site, with lateral pallidus been more affected than the medial. [17] The exact pathological process initiating the calcifying changes is not known, it may reflect slowly progressive metabolic or inflammatory processes in the brain, which subsequently calcifies and is probably responsible for the neurologic deficit observed. [18] It is not yet known why the basal ganglia is the most vulnerable site for calcium deposition, but it appears that the basal ganglia is a target for many other deposits in addition to various mineral like bilirubin (in newborn causing kernicterus),1-methyl-4-phenyl, 1, 2, 3, 6-tetrahydropyridine (MPTP) and carbonmonoxide poising leading to Parkinsonism. Although treatment of underlying etiologies such as hypoparathyroidism or mitochondrial encephalopathy has led to neuropsychiatric improvement, to the best of our knowledge, there are no specific treatments that limit progression of calcification in the basal gangalia in BSPDC, except for a theoretically appealing yet unconfirmed report of improvement using chelators with antioxidant and calcium antagonist. [19] Management at present is aimed at symptomatic care and improving quality of life. Further researches are thus needed to help establish the basis for localized deposition of calcium in the basal ganglia so that appropriate therapeutic strategies could be designed.


   Conclusion Top


Fahr's disease could manifest with hyperkinetic movement disorder including choreiform movements in our environment, but clinicians should note that disorders of calcium and phosphate metabolism may also result in bilateral basal ganglia calcification when considering the diagnosis.

 
   References Top

1.Fahr I. Idiopathipathische verkalking der hirume fasse. Zbl Allf Path 1930;50:129-33.  Back to cited text no. 1
    
2.Delacour A. Ossification des capillaries du cerveau. Ann Med-Psychol 1850;2:458-61.  Back to cited text no. 2
    
3.Bamberger H. Beobachtungen und bemerkungen uber hirnkrankheiten. Verhandl Phy Med Ges 1855;6:325-8.  Back to cited text no. 3
    
4.Kazis AD. Contribution of CT-Scan to the diagnosis of Fahr's syndrome. Acta Neurol Scand 1985;71:206-11.  Back to cited text no. 4
[PUBMED]    
5.Harington MG, Macpherson P, McIntosh WB, Allam BF, Bone I. The significance of incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurgy Psychiatry 1981;44:1168-70.  Back to cited text no. 5
    
6.Takashima S, Becker LE. Basal ganglia calcifications in Down's syndrome. J Neurol Neurosurg Psychiatry 1985;48:61-4.  Back to cited text no. 6
[PUBMED]    
7.Manyam BV. What is and what is not 'Fahr's disease'. Parkinsonism Relat Disord 2005;11:73-80.  Back to cited text no. 7
[PUBMED]    
8.Manyam BV, Bhatt MH, Moore WD, Develschoward AB, Anderson DR, Caline DB. Bilateral striopallidodentate calcinosis: Cerebrospinal fluid, imaging and electrophysiological studies. Ann Neurol 1992;31:379-84.  Back to cited text no. 8
    
9.Trautner RI, Cummings IL, Read SL, Benson DF. Idiopathic basal ganglia calcification and organic mood disorder. Am J Psychiatry 1988;145:350-3.  Back to cited text no. 9
    
10.Beall SS, Patten BM, Mallette L, Jankovic J. Abnormal systemic metabolism of iron, porphyrin and calcium in Fahr's. Ann Neurol 1989;26:569-75.  Back to cited text no. 10
[PUBMED]    
11.Lowenthal A. Striopallidodentate calcifications, in Handbook of clinical Neurology. Vol. 5.Extrapyramidal Disorders. In: Vinken PJ, Bruyn GW, Klawans HL, editor. Amsterdam: Elsevier Science; 1986. p. 417-36.  Back to cited text no. 11
    
12.Cohen CR, Duchesneau PM, Weinstein MA. Calcification of the basal ganglia as visualized by computed tomography. Radiology 1980;134:97-9.  Back to cited text no. 12
[PUBMED]    
13.Harington MG, Macpherson P, Mclntosh WB, Allam BF, Bone I. The significance of incidental finding of basal ganglia calcification on computed tomography. J Neurol Neurosurg Psychiatry 1981;44:1168-70.  Back to cited text no. 13
    
14.Geschwind DH, Loginov M, Stern JM. Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease). Am J Hum Genet 1999;65:764-72.  Back to cited text no. 14
[PUBMED]    
15.Manyam BV, Walters AS, Naria KR. Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry. Mov Disord 2001;16:258-64.  Back to cited text no. 15
    
16.Flint J, Goldstein LH. Familial calcification of the basal ganglia: A case report and review of literature. Psychol Med 1992;22:581-95.  Back to cited text no. 16
[PUBMED]    
17.Taxer F, Halter R, Konig P. Clinical early symptoms and CT-Scan findings in Fahr syndrome. Nervenart 1986;57:583-8.  Back to cited text no. 17
    
18.Avrahami E, Cohn DF, Feibel M, Tadmor R. MRI demonstration and CT-Scan correlation of the brain in patients with idiopathic intracerebral calcification. J Neurol 1994;241:381-4.  Back to cited text no. 18
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19.Skvortsov IA, Rudenskala GE, Karaseva AN, Vel'tishchev IuE. Effectiveness of therapeutic use of complexones in various diseases of the extrapyramidal system in children. Zh Nevropatol Psikhiatr Im S S Korsakova 1987;87:1457-62.  Back to cited text no. 19
    


    Figures

  [Figure 1], [Figure 2], [Figure 3]


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