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Description
A 34-year-old man developed three generalised seizures over a period of 2 weeks. He had generalised rigidity and mild bilateral symmetrical resting tremor. His deep tendon reflexes were normal with downward planter reflexes. His elder brother noticed that the patient had a progressive cognitive decline over the past few years. He resides in a village and works in a grocery store. His blood tests, including serum calcium, phosphate, alkaline phosphatase and parathyroid hormone, were within their normal reference ranges. His non-contrast CT brain scan reveals widespread symmetrical intracerebral calcification (figures 1 and 2).
Most cases of Fahr's disease come into light during their third to fifth decades of life after demonstrating a variable combination of abnormal movements (dystonia, chorea), Parkinsonism, subcortical type of dementia, seizures (focal and/or generalised) and (uncommonly) pancerebellar dysfunction. The disease results from progressive and bilateral symmetrical calcification of the basal ganglia, thalami, subcortical white matter of the hemispheres and deep cerebellar nuclei; therefore, striatopallidodentate calcinosis is a more precise designation.1 The metabolisms of calcium kinetics and other minerals are normal.
Our patient was taking oral fluoxetine (40 mg/day) which was prescribed by his local general practitioner (GP); the progressive cognitive impairment with generalised hypokinesia (and slow movements) might have prompted the GP to think of a depressive illness. The development of seizures (and subsequent CT brain findings) had uncovered the disease which the patient has.
In Fahr's disease, seizures are considered a rare manifestation, while involuntary hyperkinetic movements are the usual presenting features.2 ,3
Learning points
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Fahr's disease, or striatopallidodentate calcinosis, is a rare disease that has protean manifestations with a variable combination of abnormal movements, Parkinsonism, dementia, seizures and cerebellar dysfunction.
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Seizures, focal and/or generalised are rare presenting features.
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The development of progressive cognitive decline and Parkinsonism in young individuals should always prompt the physician to think of diseases other than depression.
Footnotes
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Competing interests None.
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Patient consent Obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.