ID: 939734
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! " # $% 'JH#SBJODPNQVUFEUPNPHSBQIZTDBOTPGUIFQBUJFOU " BOEIFS 'JH %FDFBTFE' (CT) scan of the brain revealed bilateral calcifications in thebasal ganglia (Fig. 1A).Upon further investigation, it was discovered that the patientÕs mother also had similar clinical features : maskcial features, slowed intellectual functioning, and bilateralcalcifications in the basal ganglia on CT (Fig. 1B). The moientÕs father had died of stomach cancer and had experiencedno psychomotor dysfunctions during his lifetime. Neither thepatientÕs brother nor sister experienced psychomotor dysfunctions, and their CT scans were within normal limits. ThepatientÕs pedigree was subsequently constructed (Fig. 2), andis strongly suggestive of an autosomal dominant inheritance.is a rare, degenerative neurological disorder withcharacteristic calcium deposits in the basal gangliaand other areas of the brain, as visualized on neuroimaging.There is no apparent explanation for the calcification thatappears in these brain regions. This condition is often referredto as FahrÕs disease, cerebrovascular ferrocalcinosis, or stridopallidodentate calcinosis. Most patients are asymptomaticduring childhood and young adulthood. Disease prevalenceoften peaks between the third and fifth decades of life, witha gradual progression of neuropsychiatric and movement diigue, unsteady gait, dysarthria, dysphagia, athetosis, and/ormuscle
cramping. Various types of seizures occur frequently.Neuropsychiatric symptoms, often the first or most promientration and memory to changes in personality or behavior,followed by psychosis and dementia. Ellie et al. suggested thefollowing diagnostic criteria: First, bilateral calcificationof the basal ganglia is visualized on neuroimaging. Second,progressive neurological dysfunction, generally including amovement disorder and/or neuropsychiatric disturbance, isnoted. Third, the age of onset is typically in the fourth or fifthas childhood. Fourth, there are no biochemical abnormalitiesor somatic features suggestive of a mitochondrial or metabolicdisease or other systemic disorder. Fifth, there are no infectious,toxic, or traumatic causes. Sixth, there is family history consistent with autosomal dominant inheritance. In our case, bothpatients presented with dystonia and demonstrated bilateralcalcification of the basal ganglia on CT. The daughter developed symptoms in the second decade and the mother in thesixth decade. Neither patient had any biochemical abnormalities.Brain CT scans, which easily detect calcium, are more sensitive than magnetic resonance imaging(MRI) for localizingand assessing the extent of cerebral calcificationssecondary to hypoparathyroidismticular nucleus, particularly the internal globus pallidus, ismost frequently affected. Calcifications in the putamen,ebellar gyri, brainstem, centrum semiovale, and subcorticalwhite matter may also be affected. Diffuse atrophic changeswith dilatation of the subarachnoid space and/or ventricularsystem may coexist with calcifications. Brain CT scans of thepatient and her mother showed bilateral calcifications in theglobus pallidus; no other brain areas were affected. Calcification appears to be progressive, as the calcifications are generally more extensive in older individuals. There is also documented evidence in FIBGC patients followed longitudinallyof an increase in calcific
ation over time. However, this patterndoes not always hold true.The gene or genes responsible for FIBGC are unknown.Linkage to chromosome 14q has been established in one. Linkage testing is available on a research basis only.The proportion of cases caused by de novo gene mutationsis unknown. Offspring of an affected individual have a 50%risk of being affected; however, prenatal testing is not currentlyavailable. Unfortunately, we were not able to perform a geneThe selective removal of calcium deposits from the brainwithout affecting calcium in the bones and other tissues appears to be an impossible task. Treatment with central nervmodipine, has been unsuccessful. In one patient, disodiumetidronate showed symptomatic benefits but did not reduce. We prescribed disodium etidronate (Dinol,Chodang pharmaceuticals, Seoul, Korea) in both patientsfor a period of two months, but at followup, their symptomshad not improved.ven though asymptomatic basal ganglia calcification ismore frequent, it is able to cause psychomotor symptoms and be inherited as autosomal dominant pattern. Wepresent the results of a clinical study of two patients in a family affected with FIBGC for the purpose of emphasizingthat we must pay attention to the possibility of FIBGC if apatient shows basal ganglia calcificaion on brain CT, and psy1. Caraceni T, Broggi G, Avanzini G : Familial idiopathic basal ganglia 2. Ellie E, Julien J, Ferrer X : Familial idiopathic striopallidodentate calcif3. Geschwind DH, Loginov M, Stern JM : Identification of a locus on ch4. Kobari M, Nogawa S, Sugimoto Y, Fukuuchi Y : Familial idiopathic brain5. Loeb JA : Functional improvement in a patient with cerebral calcinosis6. Manyam BV, Bhatt MH, Moore WD, Devleschoward AB, Anderson7. Manyam BV, Walters AS, Narla KR : Bilateral striopallidodentate calci8. Oliveira JR, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T, et al :9. Rha HK, Yoon SH, Huh CW, Kang JK : Basal ganglia calcification an