Figure 1: MR T1 W AXIAL SCAN OF BRAIN hyperintensities in bilateral dentate nuclei

Figure 2: And bilateral basalganglion

Figure 3: Shows GRE MR axial scan of brain fig4Axial CT scan brain showed hyperdensities

Figure 4: Shows calcification in bilateral basal ganglion in bilateral basal ganglion

CT FINDINGS

CT scan brain was performed by GE optima 128 slice machine and revealed B/L symmetrical calcification seen in basal ganglion, b/l cerebellum, thalami, and periventricular and deep white matter of b/l cerebral hemisphere and centrum semiovale.

DISCUSSION

Diagnostic criteria of Fahr’s syndrome has been modified and derived from Moskowitz et al. 1971, Ellie et al. 1989, Manyam 2005^3,7,8 and it can be stated as follows:

• Bilateral calcification of the basal ganglia visualizedon neuroimaging. Other brain regions may also beobserved.
• Progressive neurologic dysfunction, which generally includes a movement disorder and/orneuropsychiatric manifestations. Age of onset is typically in the fourth or fifth decade, although this dysfunction may also present in childhood.*
• Absence of biochemical abnormalities and somaticfeatures suggestive of a mitochondrial or metabolic disease or other systemic disorder.
• Absence of an infectious, toxic, or traumatic cause.
• Family history consistent with autosomal dominant inheritance.

Fahr’s disease is most commonly transmitted as an Autosomal Dominant trait; but it may also be passed on as an autosomal recessive trait or it may occur sporadically. A Locus at 14q (IBGC1) has been suggested to be involved commonly. A second locus has been identified on chromosome 8 and a third on chromosome 2.Fahr’s syndrome typically affects individuals in the 3^rd and 4th decades of their lives^2,8. A variety of neurological signs and symptoms are associated with Fahr’s syndrome. In adults loss of consciousness and seizures have been reported with hypothyroid hypocalcaemia. Tetany is present, but it is difficult to distinguish from occasional myoclonus of epileptic disorder. Also, spasticity, gait disorder, speech impairment, dementia, parkinsonism, chorea, tremors, dystonia, myoclonus and coma are present. Papilledema of intracranial hypertension, Pleocytosis of CSF, paroxysmal Choreothetosis and paroxysma Movement disorders in Fahr syndrome unveil as a spectrum of symptoms including clumsiness, fatigability, unsteady gait, slow or slurred speech, dysarthria dysphagia, involuntary movements and muscle cramping. Neurological evaluation reveals that parkinsonism is present in 57%, chorea 19%, tremors 8%, dystonia 8%, athetosis 5% and orofacial dyskinesia in 3% of patients². The plain skull radiograph has been shown to be the imaging modality of diagnostic value. Calcifications appear as clusters of punctate densities symmetrically distributed above Sella Turica and lateral to the midline, while subcortical and cerebellar calcifications appear wavy. Computed tomography is preferable method of localizing and assessing the extent of Cerebral Calcification. Most frequently affected area is the lenticular nucleus, especially the internal globus pallidus while Cerebellar gyri, brain stem, centrum semiovale, and subcortical white matter may also affected. Calcifications in the putamen, thalami, caudate, and dentate nuclei are also common. Occasionally, calcium deposits begin or predominate in regions outside the basal ganglia. Calcification seems to be progressive and gradual. MRI (magnetic resonance imaging) shows calcified areas in basal ganglia give a low intensity signal on a T2 image and low or high intensity signals on a T1weighted plane⁹. The cerebellar lesions are found to be more heterogeneous. There may be a chance of high intensity signals in both T1 and T2 images due to reactive gliosis or degenerating tissue within calcified areas¹⁰.

CONCLUSION

Idiopathic basal ganglia calcification or Fahr’s syndrome is a rare neurological disorder that is passed on in families as an autosomal dominant trait. This disorder is associated with a variety of other diseases but no specific etiologic agent has been identified yet. Diagnosis requires the presence of certain clinical criteria that may confuse the diagnosis with other conditions. New treatment modalities. Need to be discovered and employed to minimize loss of functionality associated with the disease. Of even more importance is to emphasize on the significance of genetic counseling of known at risk parents before conception.

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