Idiopathic intracranial calcification

A 66‑year‑old man was admitted to hospital following an episode of hematemesis and collapse. On examination, he was confused, but there was no focal neurological deficit present. Because of this confusion and collapse, a computed tomography (CT) scan of the brain was requested. It showed extensive calcification of intracranial structures, namely, cerebellum [Figure 1a], basal ganglia [Figure 1b], and cerebral hemisphere [Figure 1c]. We investigated him for possible causes of calcification, including full blood count, autoimmune

profile, bone profile, urinary ceruloplasmin levels, parathyroid hormone levels, and USS of parathyroid glands. All of the investigations were normal, and there was no family history of note. The patient was diagnosed with Fahr’s disease. Fahr’s disease is a rare genetic disorder characterized by abnormal calcification of brain structures, most commonly the basal ganglia, cerebellum, and the cerebral cortex [1]. It can be asymptomatic or can present with movement abnormalities, pyramidal signs, cognitive impairment, and neuropsychiatric symptoms. Before diagnosing Fahr’s disease, it is important to exclude other causes of intracranial calcification such as endocrinopathies (Hypercalcemia, hypoparathyroidism, and hyperparathyroidism); Wilson’s disease; tuberous sclerosis;

mitochondrial myopathies; and infections such as tuberculosis and brucellosis [2]. If any of these are present, then its called

Fahr syndrome. There is no specific treatment for Fahr’s disease, and so management is focused on symptom control

with regular follow‑up in the clinic. Treatment of Fahr syndrome consists of treating the underlying cause [3].