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      Basal Ganglia Calcification with Tetanic Seizure Suggest Mitochondrial Disorder

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          Abstract

          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.

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          Most cited references23

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          What is and what is not 'Fahr's disease'.

          Bilateral almost symmetric calcification involving striatum, pallidum with or without deposits in dentate nucleus, thalamus and white matter is reported from asymptomatic individuals to a variety of neurological conditions including autosomal dominant inheritance to pseudo-pseudohypoparathyroidism. While bilateral striopallidodentate calcinosis is commonly referred to as 'Fahr's disease' (a misnomer), there are 35 additional names used in the literature for the same condition. Secondary bilateral calcification is also reported in a variety of genetic, developmental, metabolic, infectious and other conditions. In autosomal dominant or sporadic bilateral striopallidodentate calcinosis no known calcium metabolism abnormalities are known to date. Clinically, parkinsonism or other movement disorders appear to be the most common presentation, followed by cognitive impairment and ataxia. When presence of movement disorder, cognitive impairment and ataxia are present, a computed tomography scan of the head should be considered to rule-in or rule-out calcium deposits. Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress.
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            Prevalence and progression of basal ganglia calcification and its pathogenic mechanism in patients with idiopathic hypoparathyroidism.

            The pathogenesis of basal ganglia calcification (BGC) in hypoparathyroidism is not clear. Its occurrence in hypocalcaemic milieu of hypoparathyroidism is believed to be due to high serum calcium-phosphorus product and poor calcium control. To report details of BGC in patients with idiopathic hypoparathyroidism (IH) and factors determining its progression during follow-up. Clinical, biochemical characteristics and a meningioma-expressed antigen-6 (MGEA6) gene polymorphism were analysed in 145 patients with IH, recruited since 1998, to determine the factors associated with BGC. The progression of BGC and its relationship with metabolic control of serum calcium, phosphorus, serum 25(OH)D and 1,25(OH)(2) D were assessed after a mean of 6·9 ± 3·5 years in 49 of them. Basal ganglia calcification was present in 73·8% (95% CI: 66·6%-81·0%) of subjects affecting the globus pallidus (68·8%) putamen (55·9%) and caudate nucleus (54·8%). The other sites calcified were grey-white junction (39·8%), cerebellar parenchyma (31·2%), thalamus (29·0%) and dentate nuclei (24·7%). Parkinsonism and dystonic symptoms were present in three cases. The presence of BGC at presentation was associated with calcification of the choroid plexus, cataract and an increased risk of seizures but not tetany. The progression of BGC during follow-up was related to calcium/phosphorus ratio. For every 1% increase in this ratio, the odds of progression decreased by 5% (OR: 0·95, 95% CI: 0·93-0·99, P < 0·001). A MGEA6 polymorphism, serum 25(OH)D and 1,25(OH)(2)D did not affect progression of BGC. Basal ganglia calcification occurs in 73·8% of patients with IH and correlates with the duration of hypocalcaemia, choroid plexus calcification, seizures and cataract. The progression of BGC is related to the calcium/phosphorus ratio during follow-up. This brings forth the importance of adequate phosphorus control in the management of hypoparathyroidism. © 2012 Blackwell Publishing Ltd.
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              Subacute dementia and imaging correlates in a case of Fahr's disease.

              We report a case of idiopathic bilateral basal ganglia calcinosis, or Fahr's disease (FD) in a 50 year old patient who developed rapidly progressive behavioural abnormalities and severe neuropsychological impairments, but no movement disorder. Neuropsychological deficits included a severe dysexecutive syndrome, anterograde amnesia, and attentional impairment. Neuropsychiatric features comprised apathy with intermittent disinhibition, anxiety, irritability, frequent mood changes, ritualistic and antisocial behaviour, and psychosis. Fluorodeoxyglucose positron emission tomography showed a massive reduction of glucose metabolism in the basal ganglia and the frontal brain. The observed abnormalities possibly result from a disruption of frontostriatal circuits, presumably at the basal ganglia level. This case indicates that FD may cause exclusively behavioural alterations and that the associated hypometabolism in certain frontal areas is closely related to the clinical picture.
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                Author and article information

                Journal
                Am J Case Rep
                Am J Case Rep
                amjcaserep
                The American Journal of Case Reports
                International Scientific Literature, Inc.
                1941-5923
                2017
                09 April 2017
                : 18
                : 375-380
                Affiliations
                [1 ]Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
                [2 ]2 nd Department of Medical, Cardiology and Intensive Care Medicine, Krankenanstalt Rudolfstiftung, Vienna, Austria
                [3 ]Department of Radiology, Krankenanstalt Rudolfstiftung, Vienna, Austria
                Author notes

                Authors’ Contribution:

                [A]

                Study Design

                [B]

                Data Collection

                [C]

                Statistical Analysis

                [D]

                Data Interpretation

                [E]

                Manuscript Preparation

                [F]

                Literature Search

                [G]

                Funds Collection

                Conflict of interest: None declared

                Corresponding Author: Josel Finsterer, e-mail: fifigs1@ 123456yahoo.de
                Article
                903120
                10.12659/AJCR.903120
                5395137
                28391286
                11d650e2-748c-4c93-91dc-613e1d77f0f6
                © Am J Case Rep, 2017

                This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)

                History
                : 31 December 2016
                : 27 January 2017
                Categories
                Articles

                epilepsy,genetics, medical,mitochondrial diseases
                epilepsy, genetics, medical, mitochondrial diseases

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