Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder
| Autor: | Adam Bastowansky, Josef Finsterer, Barbara Enzelsberger |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Mitochondrial Diseases Hypoparathyroidism Genetics Medical Basal ganglia calcification 030204 cardiovascular system & hematology Atheromatosis 03 medical and health sciences Hyperphosphatemia 0302 clinical medicine Basal Ganglia Diseases Seizures Internal medicine medicine Humans Aged Epilepsy business.industry Calcinosis Fanconi syndrome Articles General Medicine Spondylarthrosis medicine.disease Anesthesia Cardiology Female business Polyneuropathy 030217 neurology & neurosurgery Calcification |
| Zdroj: | The American Journal of Case Reports |
| ISSN: | 1941-5923 |
| DOI: | 10.12659/ajcr.903120 |
| Popis: | Patient: Female, 65 Final Diagnosis: Mitochondrial disorder Symptoms: Headache • tetanic seizure Medication: Diazepam Clinical Procedure: Admission Specialty: Neurology Objective: Challenging differential diagnosis 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. |
| Databáze: | OpenAIRE |
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