Choreiform movements and basal ganglia calcification as a presentation of Fahr's disease

Basal ganglia calcifications may be a radiological finding in approximately 20% of the general population. When they are associated with neuropsychiatric and motor symptoms in an idiopathic form, they are known as Fahr's disease. They are termed "Fahr's syndrome" when they are secondary to an identifiable and potentially treatable cause. In this report, we present the clinical case of a 69-year-old woman with the onset of subacute chorea, with no other associated symptoms, in whom extensive basal ganglia calcifications were found on neuroimaging, due to which metabolic disorders were subsequently ruled out. The objective is to contribute to the characterization of the potential motor manifestations which would give rise to clinical suspicion. Due to its low incidence and the little information on this condition in the region, we want to encourage documentation of other cases and the process for ruling out other differential diagnoses, in order to obtain more information on its actual epidemiology and signs and symptoms in Colombia. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2635).

Movement Disorders in Brazil: the seminal contributions of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa / Distúrbios dos Movimentos no Brasil: as contribuições exponenciais de Luiz Augusto Franco de Andrade e Egberto Reis Barbosa

ABSTRACT The major advances in the area of movement disorders in Brazil in recent years were driven by the work of Luiz Augusto Franco de Andrade and Egberto Reis Barbosa. This historical review describes the contributions made by these researchers, physicians, and educators to the development of this field in Brazil.

RESUMO Os maiores avanços observados na área de distúrbios do movimento nos últimos anos no Brasil teve como fator catalizador a atuação exponencial dos professores Luiz Augusto Franco de Andrade e Egberto Reis Barbosa. Esta revisão histórica enfatizou as contribuições desses pesquisadores, médicos e professores para o desenvolvimento da área no Brasil.

Enfermedad de Wilson: experiencia de un centro de referencia en Colombia / Wilson's disease: Experience of a reference center in Colombia

Resumen Introducción: la enfermedad de Wilson es una enfermedad heterogénea causada por mutaciones en el gen ATP7B. La presentación clínica es variable, en fenotipos hepáticos y neuropsiquiátricos. El objetivo de este estudio es describir una cohorte retrospectiva de pacientes. Materiales y métodos: estudio retrospectivo descriptivo de pacientes atendidos en el Hospital Pablo Tobón Uribe desde enero de 2004 a septiembre de 2017. Resultados: se reportaron 27 pacientes, 17 hombres y 10 mujeres. El tiempo de seguimiento medio fue de 2,18 años, el 40% presentó síntomas neurológicos; el 29%, psiquiátricos; y el 85%, alteración hepática. En el laboratorio, el 85% presentó ceruloplasmina baja; 55%, cobre urinario alto; en casos con biopsia hepática, 7 tenían depósito de cobre en coloraciones especiales. En neuroimágenes, el 84% presentó hallazgos sugestivos de enfermedad de Wilson y en 3 casos se documentó una mutación genética patogénica. Durante el seguimiento, el 51% mejoró clínica o bioquímicamente, el 11% se mantuvo estable y el 18% se deterioró. El 88% de los casos sobrevivió al final del seguimiento. Conclusiones: este estudio es la cohorte retrospectiva más grande de Colombia. Los resultados son base para nuevos estudios poblacionales buscando de manera activa la enfermedad para documentarla en su fase preclínica y, de este modo, impactar en el pronóstico.

Abstract Introduction: Wilson's disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients. Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobón Uribe from January 2004 to September 2017. Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40% of the patients had neurological symptoms, 29% psychiatric symptoms, and 85% hepatic impairment. Lab tests showed that 85% had low ceruloplasmin and 55% had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84% had findings suggestive of Wilson's disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51% improved clinically or biochemically, 11% remained stable, and 18% deteriorated. 88% of cases survived at the end of follow-up. Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.

Jules Bernard Luys: from a description of the subthalamic nucleus to hypnotism / Jules Bernard Luys: da descrição do núcleo subtalâmico ao hipnotismo

ABSTRACT The authors review the role of Jules Bernard Luys in the discovery of the subthalamic nucleus (STN) over 150 years ago. The relationships between the STN and movement disorders, particularly hemiballismus and Parkinson's disease, are well known. The academic life of Jules Bernard Luys can be divided into two periods: a brilliant start as a neuroanatomist, culminating in the discovery of the STN, followed by a second period marked by a shift in his academic activity and an increased interest in topics such as hysteria, hypnotism and, eventually, esotericism.

RESUMO Os autores revisam o papel de Jules Bernard Luys na descoberta do núcleo subtalâmico (NST) há mais de 150 anos. As relações da NST com distúrbios do movimento, em particular o hemibalismo e a doença de Parkinson, são bem conhecidas. A vida acadêmica de Jules Bernard Luys pode ser dividida em duas fases: a primeira, um brilhante começo de sua carreira como neuroanatomista, culminando na descoberta do NST, seguido por um segundo período marcado por uma mudança em sua atividade acadêmica, e maior interesse em tópicos como histeria, hipnotismo e finalmente esoterismo.

Serum calcium and other test results in 17 patients with primary familial brain calcification / 中国医师杂志

Objective@#To investigate the correlation between Ca, Al, As, Co, Mg, P, Fe, parathyroid hormone (PTH), Ct levels and primary familial brain calcification (PFBC).@*Methods@#We recruited 17 PFBC families from July, 2015 to October, 2016. Groups were divided according to clinical symptoms, the serum concentrations of Ca, P, Fe, Al, As, Co, PTH and Ct were compared among different family groups.@*Results@#There was no significant difference in serum levels of Ca, P, Fe, Al, As, Co, PTH and Ct among the healthy and patient groups or the symptomatic and asymptomatic groups, symptomatic and asymptomatic groups in movement disorder families and in psychiatric families (P>0.05).@*Conclusions@#Among the 17 PFBC families, neither serum concentrations of Ca, Al, As, Co, Mg, P, and Fe nor the levels of PTH and Ct were associated with PFBC.

Serum calcium and other test results in 17 patients with primary familial brain calcification / 中国医师杂志

Objective To investigate the correlation between Ca,Al,As,Co,Mg,P,Fe,parathyroid hormone (PTH),Ct levels and primary familial brain calcification (PFBC).Methods We recruited 17 PFBC families from July,2015 to October,2016.Groups were divided according to clinical symptoms,the serum concentrations of Ca,P,Fe,Al,As,Co,PTH and Ct were compared among different family groups.Results There was no significant difference in serum levels of Ca,P,Fe,Al,As,Co,PTH and Ct among the healthy and patient groups or the symptomatic and asymptomatic groups,symptomatic and asymptomatic groups in movement disorder families and in psychiatric families (P ＞ 0.05).Conclusions Among the 17 PFBC families,neither serum concentrations of Ca,Al,As,Co,Mg,P,and Fe nor the levels of PTH and Ct were associated with PFBC.

Characteristics of cerebral glucose metabolism in patients with corticobasal degeneration / 中华核医学与分子影像杂志

Objective To identify abnormal cerebral glucose metabolism characteristics in patients with corticobasal degeneration (CBD) using 18 F-fluorodeoxyglucose (FDG) PET imaging. Methods From January 2014 to January 2017, resting-state brain 18 F-FDG PET imaging was performed in 10 CBD patients (5 males, 5 females; average age: (63.4±6.2) years) and 20 age-matched healthy subjects (8 males, 12 female; average age: (63.6±6.2) years). Voxel-based statistical parametric mapping (SPM) was used to analyze images to obtain the CBD-related brain metabolic characteristics. The regional cerebral metabolic rate of glucose (rCMRglc) was compared between 2 groups by two-sample t test. Results Compared with healthy controls, CBD group demonstrated asymmetrically decreased glucose metabolism mainly in the cere-bral hemisphere opposite to the more clinically affected body side, including the superior, middle and inferi-or frontal gyrus, the precentral gyrus, the superior and inferior parietal lobule, the angular gyrus, the supra-marginal gyrus, the precuneus, the middle occipital gyrus, the middle and inferior temporal gyrus, Heschl gyrus, the fusiform gyrus, the insula and the thalamus. And relatively increased glucose metabolism was present in ipsilateral precentral and postcentral gyrus, hippocampus, insula and putamen, bilateral cerebel-lum, paracentral lobules and pontine. The rCMRglc in those regions was significantly different between CBD patients and healthy controls (t values: 4.236-9.044, all P<0.01). Conclusion The asymmetric cerebral glucose metabolism features in CBD based on 18 F-FDG PET imaging contribute to the differential diagnosis between CBD patients and healthy subjects.

Síndrome do QT longo adquirido em paciente portadora de doença de Fahr / Acquired long QT syndrome in a patient with Fahr's disease

A síndrome do QT longo é uma doença caracterizada por um atraso na repolarização ventricular, que se manifesta como síncope cardíaca até morte súbita. Alguns distúrbios hidroeletrolíticos podem corresponder à forma adquirida da síndrome, como a hipocalcemia. A hipocalcemia pode ocorrer em função do hipoparatireoidismo, que, em um quadro crônico, pode determinar calcificação em núcleos da base no sistema nervoso central, caracterizando a doença de Fahr. Paciente ISC, sexo feminino, 71 anos, referiu episódio de perda súbita da consciência associado a movimentos tônico-clônicos e relaxamento esfincteriano.Os achados do exame físico foram hipotensão arterial (80x60mmHg) e bradipsiquismo. Foi realizado eletrocardiograma, que mostrou alargamento do segmento QT, corrigido em 0,57'' pela fórmula de Bazett. Na história pregressa, referiu tiroidectomia parcial à direita há 20 anos, hipotireoidismo e hipertensão arterial. Fazia uso de quatro anti-hipertensivos e de um tireoestimulante. A análise da tomografia de crânio mostrou densos componentes calcificados nas regiões dos gânglios da base. A ultrassonografia de tireoide mostrou lobotomização à direita. O diagnóstico de hipoparatireoidismo foi suspeitado pelos sintomas de fadiga, sonolência, e sinais de Chvostek e Trousseau positivos, e confirmado por exames que demonstraram hipocalcemia significativa, hiperfosfatemia e níveis reduzidos de hormônio paratireóideo. Por se tratar de um quadro insidioso, o diagnóstico de hipoparatireoidismo é pouco elucidado apenas pela clínica. Neste caso, o alargamento do QT foi imprescindível para esclarecer e tratar sua etiologia. Além disso, a doença de Fahr, apesar de rara, deve ser considerada diante de um paciente com hipoparatireoidismo e história clínica compatível

Long QT syndrome is a disease characterized by a delay in ventricular repolarization that is manifested as cardiac syncope or even as sudden death. Some water and electrolyte disturbances can reflect the acquired form of the syndrome, such as hypocalcemia. Hypocalcemia can arise because of hypoparathyroidism, which in a chronic setting can determine basal ganglia calcification in the central nervous system, featuring Fahr's disease. ISC, female, 71, reported an episode of sudden loss of consciousness associated with tonic-clonic movements, and sphincter relaxation. Physical examination findings were hypotension (80x60mm Hg) and bradypsychism. The electrocardiogram (ECG) showed QT interval prolongation, corrected for 0.57'' by Bazett's formula. In her previous history she reported right partial thyroidectomy 20 years ago, hypothyroidism and high blood pressure. She made use of four anti-hypertensive drugs and one thyroid stimulating hormone. CT scan analysis showed dense calcified componentes in the regions of basal ganglia. Thyroid ultrasound showed right lobotomization. The diagnosis of hypoparathyroidism was suspected due to symptoms of fatigue, sleepiness, and positive signs of Chvostek and Trousseau, and confirmed by tests that showed significant hypocalcemia, hyperphosphatemia and low levels of parathyroid hormone (PTH) Because of its insidious picture, the diagnosis of hypoparathyroidism is only slightly elucidated by the clinical exam. In this case, QT prolongation was essential to clarify and treat its etiology. Furthermore, Fahr's disease, although rare, should be considered in a patient with hypoparathyroidism and consistent clinical history.

Enfermedad de Fahr, una entidad patológica rara, revisión de la literatura a propósito de dos casos / Fahr Disease, A Rare Pathologic Entity, Literature Review in Relation of Two Cases

La enfermedad de Fahr es una entidad neurodegenerativa autosómica dominante poco frecuente, con incidencia en personas entre la cuarta y la quinta década de la vida, caracterizada por calcificaciones simétricas prominentes detectadas por tomografía computarizada en tálamo, cápsula interna, sustancia blanca, cerebelo y ganglios basales con o sin compromiso del núcleo dentado, sin que se relacione con alteraciones del metabolismo del calcio. Estos cambios pueden llevar a trastornos neuropsiquiátricos y síntomas piramidales, extrapiramidales y cerebelosos. En este artículo se exponen las manifestaciones clínicas, los hallazgos imaginológicos y la serología utilizada para llegar al diagnóstico de esta enfermedad con base en dos casos clínicos de la Clínica Universitaria Colombia en la ciudad de Bogotá.

Fahr's disease is an autosomal dominant neurodegenerative disease. It is infrequent, and it has an incidence between the fourth and fifth decade of life. It is characterized by prominent symmetrical calcifications detected in CT studies located on thalamus, internal capsule, white matter, cerebellum and basal ganglia with or without involvement of the dentate nucleus, without being related to calcium metabolism disorders. These changes may lead to neuropsychiatric disorders and pyramidal, extrapyramidal and cerebellar symptoms. In this article we expose the clinical manifestations, imaging findings and serology test used for the diagnosis of the disease based on two clinical cases in the Clínica Universitaria Colombia in Bogotá.