Hypoparathyroidism and Fahr's syndrome: case series / Hipoparatireoidismo e síndrome de Fahr: série de casos

Abstract Hypoparathyroidism (HP) is a rare metabolic disorder and causes hypocalcemia because parathyroid hormone secretion is inadequate to mobilize calcium from bone and reabsorb calcium from kidney and gut. Anterior neck surgery is the most common cause of acquired HP and autoimmune HP is the next most common form in adults. The duration, severity, and rate of development of hypocalcemia determine the clinical presentation. A variety of organs can be affected by calcification, more frequently kidneys, but also joints, eyes, skin, vasculature, and other organ systems and, although rarely seen, intracerebral calcifications. We report four cases of bilateral basal ganglia calcifications (BGC) also known as Fahr's syndrome related to hypoparathyroidism. Fahr's syndrome is characterized by bilateral symmetrical calcification of areas of the brain that control movements including basal ganglia, thalamus, and others; it is a rare inherited or sporadic neurological disorder with a prevalence of less than 1/1.000.000. Main symptoms related to bilateral BGC include extra-pyramidal and cerebellar disorders, cognitive impairment, epileptic seizures, and psychiatric changes. BGC has been established as a possible outcome of HP. Its prevalence, demonstrated in the HP cohorts, varied significantly from 12 up to 74%. Currently, computed tomography (CT) is the most valuable method for diagnosis. The treatment include symptomatic support and identification of causes, but there is no specific treatment limiting the progression of calcification in the basal ganglia. Especially in HP, an early treatment can prevent calcification and neurophysiological disorders.

Resumo O hipoparatireoidismo (HP) é um distúrbio metabólico raro e causa hipocalcemia, pois a secreção do paratormônio é inadequada para mobilizar o cálcio dos ossos e reabsorver o cálcio dos rins e intestino. A cirurgia cervical anterior é a causa mais comum de HP adquirido. O HP autoimune é a segunda causa mais comum em adultos. A duração, gravidade e taxa de desenvolvimento da hipocalcemia determinam a apresentação clínica. Diversos órgãos podem ser afetados pela calcificação, mais frequentemente os rins, mas também articulações, olhos, pele, vasculatura e outros órgãos e, embora raramente vista, calcificações intracerebrais. Relatamos quatro casos de calcificações dos gânglios da base (CGB) bilaterais, também conhecidas como síndrome de Fahr relacionadas ao hipoparatireoidismo. A síndrome de Fahr é caracterizada pela calcificação bilateral simétrica de áreas do cérebro que controlam os movimentos incluindo os gânglios da base, tálamo e outros; é um distúrbio neurológico raro, hereditário ou esporádico, com uma prevalência 1/1.000.000. Os principais sintomas relacionados à CGB bilateral incluem distúrbios extrapiramidais e cerebelares, comprometimento cognitivo, convulsões e alterações psiquiátricas. A CGB foi estabelecida como uma possível consequência do HP. Sua prevalência, demonstrada nas coortes de HP, variou significativamente de 12 a 74%. Atualmente, a tomografia computadorizada (TC) é o método mais valioso para o diagnóstico. O tratamento inclui suporte sintomático e identificação de causas, mas não há tratamento específico limitando a progressão da calcificação nos gânglios da base. Especialmente no HP, um tratamento precoce pode prevenir calcificações e distúrbios neurofisiológicos.

Síndrome de Fahr y síndrome poliglandular tipo 4 en un paciente con secreción inadecuada de hormona antidiurética

Mujer de 73 años con antecedente de epilepsia, deterioro cognitivo, rigidez y movimientos involuntarios. Ingresó por emergencia con cuadro de desorientación y dificultad del habla. La TEM cerebral mostró calcificaciones en los ganglios basales y hemisferios cerebelosos sugerentes de síndrome de Fahr. Se demostró un hipoparatiroidismo primario más enfermedad tiroidea autoinmune con una hiponatremia hipotónica euvolémica y sin alteración de otros ejes hipofisiarios. Se hizo el diagnóstico de síndrome poliglandular autoinmune tipo 4; además, el dosaje de ADH confirmó el diagnóstico de síndrome de secreción inadecuada de hormona antidiurética. Se administró calcio endovenoso, suplementos de vitamina D y calcitriol, con mejoría clínica neurológica importante.

Hipoparatiroidismo y calcificaciones cerebrales: reporte de caso / Hypoparathyroidism and brain calcifications: a case report

Introducción. El hipoparatiroidismo es una enfermedad caracterizada por la ausencia o concentraciones inadecuadamente bajas de hormona paratiroidea (PTH), que conduce a hipocalcemia, hiperfosfatemia y excreción fraccional elevada de calcio en la orina. Las calcificaciones del sistema nervioso central son un hallazgo frecuente en estos pacientes. Caso clínico. Mujer de 56 años con antecedente de hipotiroidismo, que ingresó por un cuadro de 6 días de evolución caracterizado por astenia, parestesias periorales y movimientos anormales de manos y pies. Las pruebas de laboratorio demostraron hipocalcemia, hiperfosfatemia y niveles bajos de hormona paratiroidea. Se realizó una tomografía computarizada de cráneo que mostró áreas bilaterales y simétricas de calcificaciones en hemisferios cerebelosos, ganglios basales y corona radiata. No se evidenciaron trastornos en el metabolismo del cobre y hierro. Se estableció el diagnóstico del síndrome de Fahr secundario a hipoparatiroidismo y se inició tratamiento con suplementos de calcio y vitamina D con evolución satisfactoria. Discusión. El síndrome de Fahr es un trastorno neurológico caracterizado por el depósito anormal de calcio en áreas del cerebro que controlan la actividad motora. Se asocia a varias enfermedades, especialmente, hipoparatiroidismo. La suplementación con calcio y vitamina D con el objetivo de normalizar los niveles plasmáticos de estos cationes es el tratamiento convencional. (AU)

Introduction. Hypoparathyroidism is a disease characterized by absence or inappropriately low concentrations of circulating parathyroid hormone, leading to hypocalcaemia, hyperphosphataemia and elevated fractional excretion of calcium in the urine. Central nervous system calcifications are a common finding in these patients. Case report. 56-year-old woman with a history of hypothyroidism who was admitted for a 6-day course of illness characterized by asthenia, perioral paresthesias, and abnormal movements of the hands and feet. Laboratory tests showed hypocalcemia, hyperphosphatemia, and low parathyroid hormone levels. A cranial computed tomography was performed. It showed bilateral and symmetrical areas of calcifications in the cerebellar hemispheres, basal ganglia, and radiata crown. No disorders of copper or iron metabolism were evident. The diagnosis of Fahr syndrome secondary to hypoparathyroidism was established and treatment with calcium and vitamin D supplements was started with satisfactory evolution. Discussion. Fahr's syndrome is a neurological disorder associated with abnormal calcium deposition in areas of the brain that control motor activity. It is associated with various diseases, especially hypoparathyroidism. The conventional treatment is supplementation with calcium and vitamin D, with the aim of normalizing their plasma levels. (AU)

Síndrome de Fahr Secundario a Hiperparatiroidismo Primario e Isquemia Cerebral: A Propósito de un Caso" / Fahr Syndrome Secondary to Primary Hyperparathyroidism and Cerebral Ischemia: A Case Report

Resumen El síndrome de Fahr (SF) es una entidad neurodegenerativa rara, caracterizada por calcificaciones cerebrales principalmente en los ganglios de la base (GB). Aunque su presentación más común son los trastornos del movimiento, cognición, comportamiento y epilepsia, en los últimos años van apareciendo casos de enfermedad cerebrovascular (ECV) relacionados con esta entidad. Se presenta un paciente de 59 años que presentó 2 accidentes isquémicos transitórios (AITs), el 1º de 5 minutos, de alteración del habla, que pasó desapercibido, y el 2º de 45 minutos, 2 semanas después, de alteración del habla, pérdida de fuerza muscular y sensación de hormigueo en el hemicuerpo izquierdo. La tomografia computarizada cerebral y resonancia magnética revelaron calcificaciones sugestivas de Sindrome de Fahr y se encontró una causa tratable (hiperparatiroidismo primario con hipovitaminosis D). El paciente fue tratado con aspirina, atorvastatina y colecalciferol sin recurrencia vascular y los niveles de la vitamina D y PTH se normalizaron. Aunque la asociación entre ECV en el joven y el sindrome de Fahr no ha sido todavía determinada, la ocurrencia de estos casos nos lleva a sospechar que la ECV isquémica podría formar parte de la historia natural de esta entidad. Siendo la prevalencia del SF desconocida, alertamos a los clínicos para tener presente la ECV como forma de presentación de esta entidad. Se revisa la asociación del SF a la ECV isquémica (sin inclusión de la enfermedad aneurismática).

Abstract Fahr's syndrome (FS) is a rare neurodegenerative condition, characterized by cerebral calcifications mainly in the basal ganglia. Although its most common presentation are the disorders of movement, cognition, behavior and epilepsy, in recent years cases of cerebrovascular disease (CVD) related to this entity have been appearing. We report a 59-year-old male patient who presented 2 transitory ischemic attacks (TIAs), the 1st of 5 minutes, of speech alteration what happened unnoticed, and the second of 45 minutes, 2 weeks later, of speech alteration, loss of muscle strength and tingling sensation in the left side of the body. Brain computed tomography and magnetic resonance imaging revealed calcifications suggestive of FS and a treatable cause was found (primary hyperparathyroidism with hypovitaminosis D). The patient was treated with aspirin, atorvastatin and colecalciferol without vascular recurrence and the levels of vitamin D and PTH normalized. Although the association between CVD in young people and SF has not yet been determined, the occurrence of these cases leads us to suspect that ischemic CVD could be part of the natural history of this entity. Being the prevalence of FS unknown, we alert clinicians to keep CVD in mind as a form of presentation of this condition. We review the association between FS and ischemic CVD (without inclusion of aneurysmal disease).

Psicosis asociada con síndrome de Fahr: informe de un caso / Psychosis Associated With Fahr's Syndrome: A Case Report

Introducción: El síndrome de Fahr (SF) es un raro trastorno neurológico caracterizado por depósito anormal de calcio en áreas del cerebro que controlan el movimiento. Objetivo: Presentar el caso de una mujer de 41 años con un síndrome convulsivo, trastorno psicótico, trastorno neurocognitivo y discapacidad intelectual asociado a calcificaciones cerebrales bilaterales con alteración del metabolismo fosfocálcico en el contexto de un hipoparatiroidismo. Método: Informe de caso Resultados: Las calcificaciones encontradas en la paciente podrían ser la causa de los síntomas psicóticos y del deterioro cognitivo. Se presentan las imágenes diagnósticas y las pruebas de laboratorio, así como la evaluación psiquiátrica y la evaluación neuropsicológica. Se compara la presentación clínica de este caso con otros similares informados en la literatura. Se describen las modalidades terapéuticas y se muestra la evolución clínica. Conclusiones:El síndrome de Fahr se debe sospechar en pacientes con alteraciones neuropsiquiátricas y convulsiones. Los estudios de neuroimagen, la evaluación del metabolismo fosfocálcico y la concentración de hormona paratiroidea son importantes en este tipo de paciente.

Introduction: Fahr syndrome (SF) is a rare neurological disorder, characterized by abnormal deposition of calcium in brain areas that control movement. Objective: The case is presented of a 41-year-old female with a convulsive syndrome, psychotic disorder, neurocognitive disorde,r and intellectual disability associated with bilateral brain calcifications and altered calcium/phosphorus metabolism in the context of hypoparathyroidism. Method: Case report. Results: The calcifications found in the patient could be the cause of psychotic symptoms and cognitive impairment. Diagnostic imaging, laboratory tests, psychiatric and neuropsychological assessments are presented. The clinical presentation of this case is compared with similar ones reported in the literature. Therapeutic approaches and clinical outcomes are described. Conclusions: Fahr's syndrome should be suspected in patients with neuropsychiatric disorders and seizures. Neuroimaging studies, and the determining of phosphorus and calcium metabolism and parathyroid hormone levels are important in this type of patient.

Características tomográficas en un paciente con Síndrome de Fahr, a propósito de un caso / Tomographic features in a patient with Fahr syndrome, report of a case

El Síndrome de Fahr o calcificación idiopática de los ganglios basales es una patología neurológica degenerativa de baja frecuencia. Siendo un desorden genético hereditario autosómico dominante, se caracteriza por anormales depósitos de calcio en ciertas zonas del cerebro incluyendo el ganglio basal y la corteza cerebral asociado a síntomas neuropsiquiátricos. Se presenta el caso de un paciente de 31 años de edad que ingresa al servicio de urgencias del Hospital Obrero N°2 presentando crisis convulsivas tónico clónicas generalizadas, disartria, movimientos atetósicos en extremidades superiores e inferiores, al cual se solicitó una tomografía computarizada sin contraste donde se evidencia extensa calcificación bilateral y simétrica de la sustancia blanca que compromete cerebelo, núcleos basales, corona radiada, concluyendo que se trataba de un Síndrome de Fahr .

Fahr's Syndrome or Idiopathic basel ganglion calcification is a infrequent degenerative neurological pathology. It is a genetically auto-somal dominant dysfunction that is characterized by abnormal deposits of calcium in certain areas of the brain including the basal ganglion and the cerebral cortex, it is associated with neuropsychiatric symptoms.Presenting the case of a 31 year-old male patient entering the emergency services with tonic-clonic seizures, dyslalia, dysarthria, athetotic movements of the upper and lower extremities and ataxia. A computed axial tomography without contrast was requested. Extensive bilateral, symmetrical calcification of the white matter was diagnosed that affecting cerebellum, basal ganglia and corona radiate. Based on that evidence Fahr's Syndrome was diagnosed.

Manifestações neuropsiquiátricas da Síndrome de Fahr: relato de caso / Neuropsychiatric manifestations of Fahr's Syndrome: a case-report

As calcificações cerebrais são alterações relativamente comuns, podendo estar presentes em diversas condições clínicas. A Síndrome de Fahr é uma destas condições. Relatamos o caso de uma paciente com alterações do comportamento, do humor, desordens dos movimentos e crises convulsivas. Foram encontradas alterações tomográficas compatíveis com a Síndrome de Fahr e achados laboratoriais típicos do hipoparatireoidismo.

Brain calcifications are relatively common and may be present in various clinical conditions. Fahr's syndrome is one of those conditions. We report a patient with abnormal behavior, changes of mood, movement disorders and seizures. CT changes consistent with the pattern described for Fahr's Syndrome and laboratory findings typical of hypoparathyroidism were found.