Basal ganglia calcification in mitochondrial disorders

Though basal ganglia calcification (BGC) has been recognized as a feature of mitochondriopathy, little is known about its frequency in a larger cohort. The aim of this work was to assess the frequency of BGC, type and frequency of clinical and additional imaging central-nervous-system (CNS) abnormalities and of non-CNS abnormalities in mitochondriopathy patients with BGC. Retrospectively reviewed were the records of all mitochondriopathy patients in whom BGC was found on cerebral CT during 10 years. Among those who underwent cerebral CT, thirty-six, 24 women, 12 men, aged 33-93 years, showed BGC. The most frequent clinical CNS manifestations in these patients were epilepsy (n=9), Parkinson syndrome (n=9), dementia (n=7), dysarthria (n=5), spasticity (n=4), tremor (n=4), or stroke (n=4). Additional cerebral CT-findings were atrophy (n=10), lacunas (n=6), leucaraiosis (n=6), focal gliosis (n=4), or stroke (n=1). MR imaging, carried out in 12 patients, confirmed BGC in one. The 36 patients presented with involvement of the CNS (n=32), endocrine system (n=29), peripheral nervous system (n=28), heart (n=23), inner ear (n=16), eyes (n=15), guts (n=11), blood (n=9), kidney (n=2), or dermis (n=2). BGC occurs in one sixth of non-selected patients with mitochondriopathy and is associated with clinical and imaging CNS abnormalities and multisystem disease in the majority of them.