RESUMEN
Neurological symptoms in COVID-19 patients have attracted the interest of the scientific community, yet their mechanisms remain unknown. In some circumstances, the presence of neurological manifestations may result in an incidental diagnosis after a detailed investigation. In the present letter, we discuss a case published by Demir et al., in which the diagnosis of COVID-19 enabled the diagnosis of a rare neurological disorder, characterized by bilateral brain calcifications, commonly known by the eponym Fahr's syndrome. In addition, we report a case of primary brain calcifications unveiled by a suspected coronavirus infection.
Asunto(s)
Enfermedades de los Ganglios Basales/diagnóstico por imagen , COVID-19/complicaciones , Calcinosis/diagnóstico por imagen , Enfermedades Neurodegenerativas/diagnóstico por imagen , Neuroimagen , SARS-CoV-2 , Tomografía Computarizada por Rayos X , Enfermedades de los Ganglios Basales/complicaciones , Calcinosis/complicaciones , Diagnóstico Diferencial , Humanos , Hallazgos Incidentales , Masculino , Persona de Mediana Edad , Enfermedades Neurodegenerativas/complicaciones , Convulsiones/etiologíaRESUMEN
Primary familial brain calcification (PFBC) is a heterogeneous neuropsychiatric disorder, with affected individuals presenting a wide variety of motor and cognitive impairments, such as migraine, parkinsonism, psychosis, dementia, and mood swings. Calcifications are usually symmetrical, bilateral, and found predominantly in the basal ganglia, thalamus, and cerebellum. So far, variants in three genes have been linked to PFBC: SLC20A2, PDGFRB, and PDGFB. Variants in SLC20A2 are responsible for most cases identified so far and, therefore, the present review is a comprehensive worldwide summary of all reported variants to date. SLC20A2 encodes an inorganic phosphate transporter, PiT-2, widely expressed in various tissues, including brain, and is part of a major family of solute carrier membrane transporters. Fifty variants reported in 55 unrelated patients so far have been identified in families of diverse ethnicities and only few are recurrent. Various types of variants were detected (missense, nonsense, frameshift) including full or partial SLC20A2 deletions. The recently reported SLC20A2 knockout mouse will enhance our understanding of disease mechanism and allow for screening of therapeutic compounds. In the present review, we also discuss the implications of these recent exciting findings and consider the possibility of treatments based on manipulation of inorganic phosphate homeostasis.
Asunto(s)
Encefalopatías/genética , Encefalopatías/patología , Calcinosis/genética , Mutación , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/genética , Alelos , Sustitución de Aminoácidos , Encefalopatías/diagnóstico , Análisis Mutacional de ADN , Exones , Estudios de Asociación Genética , Variación Genética , Humanos , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/metabolismoRESUMEN
Las calcificaciones cerebrales agrupan diversas entidades patológicas que frecuentemente han sido referidas como enfermedad de Fahr. Estas tienen una presentación clínica variada, desde el curso subclínico hasta manifestaciones motoras convulsivas e inclusive demenciales. Se presenta el caso de una mujer de 46 años con una crisis epiléptica convulsiva generalizada, asociada a calcificaciones difusas por hipoparatiroidismo postquirúrgico, en quien se inicia reposición de calcio, logrando resolución del cuadro convulsivo. Este reporte destaca el abordaje fisiopatológico de las calcificaciones cerebrales por hipoparatiroidismo, la importancia de una definición más general de cómo sería el síndrome de calcificación cerebral teniendo en cuenta las diferentes entidades patológicas conocidas asociadas con diferente espectro clínico y, por último, pone en evidencia la carencia de investigaciones sobre el tema.
Brain calcifications group diverse pathological entities that have often been referred to as Fahr disease. These have a clinical presentation which varies from subclinical course to several motor manifestations and dementia. We report the case of a 46 year old woman with generalized seizures associated with diffuse calcifications on postoperative hypoparathyroidism in whom calcium supplementation starts achieving resolution of the symptoms. This report highlights the pathophysiological approach by hypoparathyroidism brain calcifications, the importance of a general definition as in the brain calcification syndrome considering different known disease entities associated with different clinical spectrum and, finally, demonstrates the lack of research on the subject.
RESUMEN
OBJECTIVES: Discuss pathophysiological aspects of cerebral calcifications (CC) and highlight its importance related to the occurrence of neuropsychiatric syndromes. METHOD: Single case report. RESULT: Man 52 years old, 20 years after going through a total thyroidectomy, starts showing behavioral disturbance (psychotic syndrome). He was diagnosed as schizophrenic (paranoid subtype) and submitted to outpatient psychiatric treatment. During a psychiatric admission to evaluate his progressive cognitive and motor deterioration, we identified a dementia syndrome and extensive cerebral calcifications, derived from iatrogenic hypoparathyroidism. CONCLUSION: The calcium and phosphorus disturbances, including hypoparathyroidism, are common causes of CC. Its symptoms can imitate psychiatric disorders and produce serious and permanent cognitive sequelae. The exclusion of organicity is mandatory in any psychiatric investigative diagnosis in order to avoid unfavorable outcomes, such as in the present case report.
OBJETIVOS: Discutir aspectos fisiopatológicos das calcificações cerebrais (CC) e ressaltar sua importância na ocorrência de síndromes neuropsiquiátricas. MÉTODO: Relato de caso individual. RESULTADO: Homem 52 anos de idade, 20 anos após tireoidectomia total, iniciou com alteração comportamental (síndrome psicótica), foi diagnosticado como portador de esquizofrenia paranoide e encaminhado para ambulatório de psiquiatria. Durante internação psiquiátrica, para avaliação de importante deterioração cognitivo e motora, foi verificada a vigência de síndrome demencial e extensas CC, secundários a hipoparatiroidismo iatrogênico. CONCLUSÃO: Os distúrbios do metabolismo do cálcio e do fósforo, incluindo o hipoparatiroidismo, são causas frequentes de CC. Seus sintomas podem mimetizar transtornos psiquiátricos e provocar sequelas cognitivas permanentes. A exclusão de organicidade é mandatória durante toda investigação diagnóstica na psiquiatria, a fim de evitar desfechos desfavoráveis, como no presente relato de caso.