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Fahr syndrome is a rare anatomical-clinical entity characterized by a triad of bilateral and symmetrical intracerebral calcifications of the basal ganglia, disorders of phosphocalcium metabolism, and neuropsychic manifestations. Epileptic seizures are unusual in this syndrome. Hypoparathyroidism, either primary or postoperative, is the most common abnormality. Hyperparathyroidism is exceptionally reported as a cause of Fahr’s syndrome. We report the case of a 36-year-old patient followed since the age of 28 years for epilepsy, who presented with hypocalcemia before an emergency workup following the occurrence of a generalized tonic-clonic seizure revealing a Fahr syndrome with the particularity of the existence of a hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Fahr syndrome is a rare anatomical-clinical entity characterized by a triad of bilateral and symmetrical intracerebral calcifications of the basal ganglia, disorders of phosphocalcium metabolism, and neuropsychic manifestations. Epileptic seizures are unusual in this syndrome. Hypoparathyroidism, either primary or postoperative, is the most common abnormality. Hyperparathyroidism is exceptionally reported as a cause of Fahr’s syndrome. We report the case of a 36-year-old patient followed since the age of 28 years for epilepsy, who presented with hypocalcemia before an emergency workup following the occurrence of a generalized tonic-clonic seizure revealing a Fahr syndrome with the particularity of the existence of a hyperparathyroidism. [ABSTRACT FROM AUTHOR]

Le syndrome de Fahr est une entité médicale rare, caractérisée par une triade associant des calcifications intracérébrales bilatérales et symétriques des noyaux gris centraux, des troubles du métabolisme phosphocalcique et des manifestations neuropsychiques. Nous rapportons un cas de syndrome de Fahr, chez un patient de 30 ans ayant une notion de retard mental depuis quatre (4) ans, admis aux urgences dans un tableau de méningo-encéphalite.

Résumé Introduction Le syndrome de Fahr associe des calcifications intracérébrales, non artério-sclérotiques, bilatérales et symétriques à des perturbations métaboliques phosphocalciques. Il doit être distingué de la maladie de Fahr. Les manifestations cliniques sont diverses et comportent en premier lieu des signes neuropsychiatriques mais qui ne correspondent souvent à aucun tableau spécifique. L'examen diagnostique de choix est la tomodensitométrie cérébrale. Observations Nous rapportons les observations de deux enfants ayant un syndrome de Fahr, l'un révélé par des troubles neuropsychiatriques et cognitifs et l'autre par une épilepsie associée à des symptômes neuropsychiatriques. Dans les deux cas, l'imagerie cérébrale et les examens biologiques ont permis de poser le diagnostic. L'évolution, dans les deux cas, a été favorable sous vitamino-calcithérapie associée au traitement substitutif de l'hypothyroïdie dans le premier cas et au traitement antiépileptique dans le deuxième cas. Conclusion Le syndrome de Fahr est une entité rare. Les anomalies du métabolisme phosphocalcique et les calcifications cérébrales doivent être recherchées en présence de troubles neuropsychiatriques afin d'adopter les mesures thérapeutiques appropriées. Summary Introduction Fahr's syndrome is a rare anatomo-clinical entity, defined radiologically by the presence of bilateral, symmetric and non-arteriosclerotic triatopallidodentate calcifications. It should be distinguished from Fahr's disease, which corresponds to calcifications of the basal ganglia without phosphocalcic metabolism abnormalities. Fahr's syndrome is generally difficult to suspect clinically because symptoms are not specific. These are usually neuropsychiatric disorders with changes in personality and behavior, confusion or delirium. Other neurological manifestations include cognitive impairment, intellectual deterioration, mental disability, extrapyramidal involvement, and more rarely pyramidal syndrome, cerebellar syndrome and intracranial hypertension. Fahr's syndrome occurs predominantly in patients with dysparathyroidism, notably hypoparathyroidism. Computed tomography is the preferable method of localizing and assessing the intracerebral calcifications. We report two pediatric cases of Fahr syndrome illustrating the importance of neuro-imaging and the search for disrupted phosphocalcic metabolism in children with neuropsychiatric disorders. Case reports Case 1 A 13-year-old boy presented to our outpatient department for academic difficulties and personality disorders such as anxiety and irritability. His past medical history includes delayed language development and several surgical ablations of subcutaneous nodules. Clinical examination showed surgical scars, subcutaneous calcinosis, statural delay and dysmorphic facial features: moon facies, depressed nasal bridge, hypertelorism, short neck and brachydactylie of the fourth finger. CT (computed tomography) scan of the brain revealed symmetrical calcifications in the cerebellar hemispheres, central gray nuclei and subcortical white matter. Laboratory tests revealed hypocalcemia, hyperphosphatemia, high level of parathyroid hormone and hypothyroidism. The diagnosis of Fahr's syndrome revealing pseudohypoparathyroidism was made. Subsequently, a treatment with calcium and 1-alpha-hydroxy-vitamin D was started. Case 2: A 5 years 6 months old boy was referred to the hospital with a history of generalized tonic-clonic seizures partially controlled with Sodium Valproate. His parents reported neuropsychiatric disorders such as memory disturbances, irritability, anxiety, intellectual deterioration and transient dysarthria. The neurological examination revealed psychomotor slowing and ataxia. Electroencephalogram showed bilateral temporal epileptiform activity. Laboratory tests revealed hypocalcaemia, hyperphosphatemia and decreased levels of parathormone. CT scan of brain showed bilateral and symmetrical calcifications in the palidum, striatum, thalamus and white matter. The diagnosis of Fahr's syndrome revealing hypoparathyroidism was made. The patient was supplemented with calcium and vitamin D in combination with antiepileptics. The evolution was marked by the cessation of seizures and the correction of calcium level. Conclusion Fahr's syndrome is a rare entity contrasting severe and various symptoms with simple and effective treatment. Our cases report emphasize the importance of the search of abnormal phosphocalcic metabolism and cerebral calcifications associated with the presence of neuropsychiatric disorders in order to adopt the appropriate therapeutic measures. [ABSTRACT FROM AUTHOR]

Le syndrome de Fahr est défini par la présence de calcifications intracérébrales bilatérales et symétriques, non artériosclérotiques, localisées aux noyaux gris centraux. La découverte de celles-ci au cours d'un accident cérébrale ischémique constitue un mode de révélation exceptionnelle de cette affection et doit faire pratiquer une étude du métabolisme phosphocalcique avec dosage de la PTH. L'analyse des signes clinico-biologiques et radiologique est à la base du diagnostic. Un traitement antiépileptique au long cours peut favoriser les calcifications au niveau des noyaux gris centraux et induire le syndrome qui reste de bon pronostic. La correction des troubles du métabolisme phosphocalcique amène souvent une amélioration notable.

Le syndrome de Fahr est une entité rare dont la prévalence est inférieure à 0,5%. Ses manifestations cliniques sont variables allant des simples troubles du comportement aux crises de tétanie et aux manifestations neuropsychiatriques sévères. Il peut être idiopathique ou secondaire à de nombreuses étiologies dominées par les anomalies du métabolisme phosphocalcique dont la principale cause est l'hypoparathyroïdie. Son diagnostic positif est radiologique. Nous rapportons l'observation d'une patiente âgée de 78 ans hypertendue aux antécédents d'hypothyroïdie, d'hypoparathyroidie post thyroïdectomie totale il ya 30ans. Elle est traitée par levothyrox100 g 2 cp/j, un-alpha1 g 3cp/j et calperos 2cp/j avec euthyroidie clinique et biologique et un bilan phosphocalcique sans anomalie. L'évolution a été marquée par l'apparition en 2010 de troubles cognitifs d'aggravation rapide avec installation d'une véritable démence en quelques mois. L'examen neurologique avait objectivé un syndrome extrapyramidal. Le scanner cérébral avait mis en évidence des calcifications étendues des noyaux gris centraux, à la jonction substance blanche substance grise linéaires, du bulbe cérébral et du cervelet. Le diagnostic d'un syndrome de Fahr, révélé par une démence suite à une hypoparathyroidie ancienne, a été alors retenu.

Fahr's syndrome is defined as the presence of bilateral intracerebral, symmetrical, nonarteriosclerotic calcifications involving the basal ganglia. Their detection during stroke is exceptional. Phosphocalcium metabolism should be investigated with human parathyroid hormone (HPH) dosage. Diagnosis is based on the evaluation of clinical and laboratory data as well as on radiological imaging. Long-term antiepileptic treatment can cause basal ganglia calcification resulting in Fahr's syndrome. Prognosis is favorable. The correction of phosphocalcium metabolism usually leads to significant improvement. [ABSTRACT FROM AUTHOR]

Le syndrome de Fahr (SF) est caractérisé par la présence de calcifications intracérébrales, bilatérales et symétriques, des noyaux gris centraux. Il est souvent associé à des troubles du métabolisme phosphocalcique, et principalement à une hypoparathyroïdie. Il constitue une complication rare de la radiothérapie probablement lié à une vascularite nécrotique. Nous rapportons l'observation d'un homme âgé de 27 ans qui était hospitalisé pour syndrome dysmorphique acrofacial. Le diagnostic d'une acromégalie secondaire à un macroadénome hypophysaire a été retenu. Une première exérèse fut réalisée, suivie de d'une réintervention pour récidive et d'une radiothérapie complémentaire de 56 grays répartis sur 12 séances. L'évolution était marquée par la survenue d'une insuffisance antéhypophysaire. Cinq ans plus tard, le patient présentait des céphalées frontales. Un scanner cérébral objectivait un aspect stable de la tumeur, par ailleurs, elle révélait une calcification quasitotale des noyaux gris centraux, du tronc cérébral et du cervelet, de la substance blanche et de la jonction cortico-souscorticale absentes sur les examens neuroradiologiques précédents. Le diagnostic d'un syndrome de Fahr a été porté. Le bilan biologique ne révélait pas de troubles du métabolisme calcique, ni d'hypoparathyroidie. L'hypothroidie et l'hypogonadisme ont été incriminés mais le caractère étendu des macrocalcifications n'était pas en faveur. Ainsi, l'origine post radique était retenue. Une surveillance clinique rapprochée était préconisée afin de déceler d'éventuelles complications neurologiques.

Le syndrome de Fahr est une entité anatomo-clinique rare, caractérisée par des calcifications intracérébrales bilatérales et symétriques, localisées dans les noyaux gris centraux, le plus souvent associées à des troubles du métabolisme phosphocalcique. L'hypoparathyroïdie, primitive ou postopératoire, est l'anomalie la plus classique.

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Summary: Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism. [Copyright &y& Elsevier]

Abstract: Fahr''s disease refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcifications. The basal ganglia and dentate nucleus are the most common site of involvement and most cases present extrapyramidal symptoms. This disease is mostly associated with a phosphocalcic metabolism disorder, especially to hypoparathyroidism. The authors report a case of Fahr syndrome (FS) discovered when a young patient with hypocalcemia and bacterial meningitis had a cerebral CT scan disclosing intracerebral calcifications. She fully recovered after both meningitis and hypocalcemia were treated. [Copyright &y& Elsevier]

Unlabelled: Fahr's syndrome is a rare disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex associated with many neurological and psychiatric abnormalities such as a rigid hypokinetic syndrome, mood disorders and cognitive impairment. Fahr's syndrome is secondary to some disorders, such as hypoparathyroidism., Case Report: We report the case of a 56 year-old man, with a history of cataract, who was admitted to our psychiatric hospital for the first time in his life because of psychotic symptoms associated with irritability and aggressiveness. Since the age of 38 the patient had become nervous, 10 years later he developed tonic-clonic seizures. Two months ago, he began expressing delusions of persecution against his wife and sons and making fugues. According to his family during this period, he was agitated, aggressive, and suffered from insomnia and anorexia. The general and psychiatric examination showed an upright and bronzed patient with neglected hygiene. He was indifferent to his environment and expressed poor mimics and gestures. He was anxious, suspicious and not very talkative. He was conscious but his attention was slightly decreased. Moreover, he was not aware of his problems. The neurological examination showed extrapyramidal syndrome with postural tremor and cerebellar ataxia. A cranial computed tomography brain scan found bilateral, symmetric basal ganglia calcifications, in favour of Fahr's syndrome. Phosphocalcic investigations revealed low concentration of serum calcium at 1.01mmol/L (normal 2.15 to 2.57mmol/L) and hyperphosphoremia at 2.69mmol/L (normal 0.81 to 1.55mmol/L). He also had low concentrations of 25-OH vitamin as well as decreased urinary levels of phosphate and calcium. The blood level of parathyroid hormone was 0ng/L. The diagnosis of Fahr's syndrome, revealing a hypoparathyroidism was posed. He was supplemented with calcium and alpha cholecalciferol and treated with clozapine (100mg per day). After four weeks, psychotic symptoms responded well to this treatment without expressing any side effects, notably seizures., Discussion: Psychotic symptoms seen in Fahr's disease include auditory and visual hallucinations, complex perceptual distortions, delusions, and fugue state. Some of them were manifest in this patient. It is likely that the psychosis in both Fahr's disease and schizophrenia share a similar pathology. Positive psychotic symptoms, hallucinations, and paranoia are not necessarily generated by the classical hypothesis of dopamine-mediated attachment of salience to internally generated stimuli. Still, there is some evidence that disruption of the cortex involved in the pathophysiology of schizophrenia is also seen in Fahr's disease, particularly in areas of the limbic system., Conclusion: Psychiatrists should consider Fahr's syndrome as a differential diagnosis in the evaluation of psychosis associated with seizures. This case, along with others in the literature, further emphasizes the importance of the role of neuro-imaging and the search for disrupted phosphocalcic metabolism in patients with atypical psychotic symptoms. Moreover, further research should focus on pharmacologic interventions. The efficacy and risks of neuropharmacologic and psychopharmacologic interventions in Fahr's syndrome, and correlates of good and poor outcome with these interventions remain to be defined., (Copyright © 2013. Published by Elsevier Masson SAS.)