title: Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder.
abstract: BACKGROUND Basal ganglia calcification (BGC) is a rare sporadic or hereditary central nervous system (CNS) abnormality, characterized by symmetric or asymmetric calcification of the basal ganglia. CASE REPORT We report the case of a 65-year-old Gypsy female who was admitted for a tetanic seizure, and who had a history of polyneuropathy, restless-leg syndrome, retinopathy, diabetes, hyperlipidemia, osteoporosis with consecutive hyperkyphosis, cervicalgia, lumbalgia, struma nodosa requiring thyroidectomy and consecutive hypothyroidism, adipositas, resection of a vocal chord polyp, arterial hypertension, coronary heart disease, atheromatosis of the aorta, peripheral artery disease, chronic obstructive pulmonary disease, steatosis hepatis, mild renal insufficiency, long-term hypocalcemia, hyperphosphatemia, impingement syndrome, spondylarthrosis of the lumbar spine, and hysterectomy. History and clinical presentation suggested a mitochondrial defect which also manifested as hypoparathyroidism or Fanconi syndrome resulting in BGC. After substitution of calcium, no further tetanic seizures occurred. CONCLUSIONS Patients with BGC should be investigated for a mitochondrial disorder. A mitochondrial disorder may also manifest as tetanic seizure.
authors.affiliation: Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.affiliation: 2nd Department of Medical, Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Barbara
authors.initials: B
authors.lastname: Enzelsberger
authors.affiliation: Department of Radiology, Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: Adam
authors.initials: A
authors.lastname: Bastowansky
mesh_terms: D000368:Aged; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000209:etiology*; D005260:Female; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications; D028361:Mitochondrial Diseases / Q000175:diagnosis*; D012640:Seizures / Q000209:etiology*