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Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder

Challenging differential diagnosis, Management of emergency care, Rare disease

Josef Finsterer, Barbara Enzelsberger, Adam Bastowansky

(Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria)

Am J Case Rep 2017; 18:375-380

DOI: 10.12659/AJCR.903120

Published: 2017-04-09


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.

Keywords: Epilepsy, Genetics, Medical, Mitochondrial Diseases



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