09 April 2017 : Case report
Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder
Challenging differential diagnosis, Management of emergency care, Rare disease
Josef Finsterer1ABCDEF*, Barbara Enzelsberger2BDF, Adam Bastowansky3BDFDOI: 10.12659/AJCR.903120
Am J Case Rep 2017; 18:375-380
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.
Keywords: Epilepsy, Genetics, Medical
In Press
12 Feb 2024 : Case report
Diagnostic Challenges and Imaging Considerations for Intraparotid Facial Nerve Schwannoma: A Case Report an...Am J Case Rep In Press; DOI: 10.12659/AJCR.942870
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
Most Viewed Current Articles
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
05 Mar 2022 : Case report
Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...DOI :10.12659/AJCR.935336
Am J Case Rep 2022; 23:e935336
02 Apr 2022 : Case report
Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...DOI :10.12659/AJCR.935743
Am J Case Rep 2022; 23:e935743