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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We present the case of a patient with familial striopallidodentate calcinosis who had porphyria cutanea tarda, refractory anemia, and pseudohypoparathyroidism type 2. The serum level of ferritin was markedly increased, serum iron and iron-binding capacity were below normal, and at autopsy she had deposition of iron in liver, spleen, bone marrow, and brain. She showed intermittent mild hypocalcemia, increased serum values of parathyroid hormone, elevated renal tubular reabsorption of phosphate, and low serum levels of 1,25-dihydroxyvitamin D, suggesting blunted renal responsiveness to endogenous parathyroid hormone. Pseudohypoparathyroidism type 2 was confirmed by infusion of synthetic parathyroid hormone, which gave a normal urinary cyclic adenosine monophosphate response, but a blunted phosphaturic response. After splenectomy for hypersplenism and weekly phlebotomies, she showed progressive improvement in function, mental status, weight, and seizure control. The hypothesis advanced is that the underlying pathophysiology of the separate diseases contributed to the formation of the brain stones through mechanisms of defective iron transport and free radical production.
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PMID:Abnormal systemic metabolism of iron, porphyrin, and calcium in Fahr's syndrome. 281 30

Fahr's disease associates various degrees of neuropsychological impairment and calcium deposits in the basal ganglia. We report 3 cases. The first case was a 54-year-old man with hemichorea of one-year duration. Laboratory results demonstrated idiopathic hypoparathyroidism. In the second case, a 23-year-old man treated for epilepsia for 8 years was hospitalized for subintrant episodes and hemichorea. Dysmorphism and laboratory results led to the diagnosis of pseudo-hypothyroidism. The third case was a 62-year-old woman with generalized seizures of epilepsia and dementia of two-month duration. Physical examination revealed extra-pyramidal rigidity. Hyperparathyroidism due to an adenoma was confirmed histologically. In all three patients, correction of phosphocalcium levels led to clinical improvement, particularly with disappearance of the epileptic seizures and abnormal movements. Clinical expression of Fahr's syndrome varies greatly. Symptoms include psychiatric disorders, epileptic seizures, extra-pyramidal syndrome and various neurological conditions. Diagnosis requires CT brain scan which identifies calcium deposits in the basal ganglia. The main cause is hypoparathyroidism, whether primary or post-operative. Cases due to other causes of dysparathyroidism are rare. The pathophysiology of this condition remains unknown and results of treatment are often unsatisfactory. Since correcting the impaired calcium phosphorus metabolism often leads to considerable improvement, it is essential to systematically search for dysparathyroidism in patients presenting with neuropsychologic manifestations associated with calcifications of the basal ganglia.
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PMID:[Fahr syndrome and dysparathyroidism. 3 cases]. 750 22

Physiological intracranial calcification occurs in about 0,3-1,5% of cases. It is asymptomatic and is detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases and other. Hypoparathyroidism and pseudohypoparathyroidism are the most common causes of pathological basal ganglia calcification. Besides tetany and seizures this condition is presented by parkinsonism and dementia. Such parkinsonism doesn't respond to drugs containing levodopha. Infections (toxoplasmosis, rubella, cytomegalovirus, cysticercosis, AIDS) give multiple and asymmetric intracranial calcification. Inherited and neurodegenerative diseases cause symmetrical, bilateral basal ganglia calcification which is not related to metabolic disorders (blood calcium level and other), those are: Cockayne syndrome, tuberous sclerosis, Fahr's syndrome, Down syndrome and other. We observed some cases of basal ganglia calcification and studied clinical manifestations and treatment tolerance of this pathological condition. Since adequate treatment of hypoparathyroidism may lead to marked clinical improvement, serum concentration of calcium, phosphorus, and parathyreoid hormone is suggested to be determined in all individuals with calcification of the basal ganglia to rule out hypoparathyroidism. Basal ganglia calcification in young patient with acute hepatitis may be result of Wilson disease.
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PMID:[Basal ganglia calcification: clinical manifestations and diagnostic evaluation]. 1717 86

Fahr's disease, first described by Karl Theodor Fahr in 1930, refers to sporadic or familial idiopathic basal ganglia calcification that is associated with many neurological and psychiatric abnormalities, but may also be secondary to other diseases. Most cases present with extrapyramidal symptoms. But here we describe a case of Fahr's disease, who presented with complex partial seizure and behavioral abnormalities. On screening, the cause of seizure was found to be bilateral calcification of cerebellum, basal ganglia and thalamus, due to abnormal calcium and phosphate metabolism. A clinical diagnosis of complex-partial seizure with secondary generalization due to secondary Fahr's disease was done on the basis of clinical features, investigations, and exclusion of other causes of intracranial calcification.
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PMID:Fahr's disease: a very rare cause of epilepsy. 2004 86

Fahr's disease or Striato-pallido-dentate calcification is a well-defined entity with familial or sporadic presentation and approximately two-thirds of the patients are symptomatic. Herein, we report on different manifestations and neuroimaging of six symptomatic members of a family with Fahr's disease. It is significant that three symptom-free members of this family also had brain calcification on brain CT scan. The patients' symptoms had started at different ages with diverse manifestations. The manifestations included extrapyramidal signs, behavioral abnormalities, memory deficits, atonic type of seizure, and ataxia. In further generations, symptoms started earlier.
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PMID:Fahr's disease: variable presentations in a family. 2070 55

Triad of leukoencephalopathy, cerebral calcifications and cysts (LCC) is a recently reported rare disease named 'Labrune syndrome' after the first case was reported in 1996 by Labrune et al. Herein, we report a case of a 36-year-old man with mild right-sided weakness and seizures for 5 years. CT of brain revealed extensive calcification involving bilateral basal ganglia, right thalamus and bilateral deep cerebellar nuclei. A supratentorial cystic lesion with blood fluid level was seen in left occipitotemporal region. MRI examination revealed diffuse symmetric white matter hyperintensity suggesting leukoencephalopathy. On follow-up, patient reported improvement in the weakness and no further seizure episodes. However, follow-up of MRI revealed persistence of lesions. Differential diagnosis considered were parasitic infections (hydatid, cysticercosis), Coat's plus disease and causes of diffuse cerebral calcification like Fahr's disease and post-radiotherapy/chemotherapy. Serology for parasitic infections was negative. No history of radiotherapy or chemotherapy in the past could be elicited in the history. Another close differential is Coat's plus disease which can mimic LCC pathologically.
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PMID:A case of leukoencephalopathy, cerebral calcifications and cysts. 2234 26

In our report we would like to present a case of a 60-year-old patient with epileptic seizures, affective disturbances, only mild neurocognitive disorders and cardiomyopathy. A female patient was taken to the internal ward with a tentative diagnosis of recurrent syncope. Laboratory results disclosed severe hypocalcaemia, hypoparathyroidism, and hypothyroidism. An echocardiogram revealed left ventricle systolic dysfunction. Computed tomography revealed massive intracranial calcifications typical for Fahr's syndrome. Our patient demonstrated only mild neurological and psychiatric symptoms, but developed hypocalcaemic heart failure. It is possible that some cases of Fahr's syndrome remain undiscovered, particularly patients taken to internal wards with mild neurological or psychiatric signs.
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PMID:Recurrent syncope and hypocalcaemic cardiomyopathy as manifestations of Fahr's syndrome. 2237 31

Paroxysmal kinesigenic dyskinesia (PKD) is presented as a short paroxysmal attack of focal or generalized involuntary movement. Bilateral striopallidodentate calcinosis (BSPDC) is referred to as Fahr's disease and is characterized by the calcification of the basal ganglia, cerebellar nuclei and thalamus. Most common presentation of BSPDC was a parkinsonism, and PKD has also been reported to few of the cases with sporadic BSPDC. Here, we report the case of a 35-year-old-man with PKD for 19 years, and we describe the pathogenesis of PKD in the BSPDC.
Seizure 2012 Dec
PMID:A case of paroxysmal kinesigenic dyskinesia in idiopathic bilateral striopallidodentate calcinosis. 2305 42

Fahr's disease, also known as idiopathic basal ganglia calcification, is a rare clinical entity characterised by bilaterally symmetric calcification of the basal ganglia. Most of the patients present with extrapyramidal symptoms, but the natural history, progression and treatment still remain unknown. We report a case of tubercular meningitis diagnosed by a cerebrospinal fluid examination with incidental findings of an extensive basal ganglia calcification on CT. CT of sibling, done to evaluate an episode of seizure, revealed strikingly similar calcification. Both these calcifications were due to Fahr's disease. The patient was treated with antitubercular and antiepileptic drugs. The patient fully recovered clinically and currently is seizure-free on antiepileptic treatment.
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PMID:Fahr's disease: an incidental finding in a patient of tubercular meningitis. 2320 9

Hypocalcemia due to hypoparathyroidism produces a broad spectrum of clinical manifestations, but overt symptoms may be sparse. One unusual presentation is onset or aggravation of epilepsy in adolescence revealing hypoparathyroidism. This situation can lead to delayed diagnosis, with inefficacity of the antiepileptic drugs. We report five cases of adolescence-onset epilepsy with unsuccessful antiepileptic therapy, even with gradually increasing dose. Physical examination revealed signs of hypocalcemia, confirmed biologically. Full testing disclosed the origin of the seizures: hypoparathyroidism in three patients and pseudohypoparathyroidism in the other two. In four of five patients, computed tomography showed calcification of the basal ganglia, defining Fahr's syndrome. The patients were treated with oral calcium and active vitamin D (1-alphahydroxy vitamin D3). Seizure frequency progressively decreased and serum calcium levels returned to normal. These cases illustrate the importance of the physical examination and of routine serum calcium assay in patients with new-onset epileptic seizures in order to detect hypocalcemia secondary to hypoparathyroidism.
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PMID:[Seizures revealing phosphocalcic metabolism abnormalities]. 2472 42


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