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.

Dysfunctions of the stomatognathic system and vocal aspects in Fahr disease: case report / Disfunções do sistema estomatognático e aspectos vocais na doença de Fahr: relato de caso

The aim of this study is to report the case of a patient with Fahr's Disease in order to describe the main stomatognathic and vocal changes that can be found in individuals with this disease. In order to establish the diagnosis, an assessment of the conditions of orofacial motor system and speech production, as well the efficiency of swallowing, was realized. Based on these assessments, there were difficulties in coordinating and sustaining muscle during speech and presence of oropharyngeal dysphagia. Speech disorders found in Fahr's disease manifest themselves in complex and cover various aspects of phonological knowledge and the diseases that affect the basal ganglia have similar frames of speech-language disorders of the stomatognathic system, being able to present a picture of dysarthria.

O objetivo deste estudo consiste em relatar o caso de uma paciente com Doença de Fahr buscando descrever as principais alterações estomatognáticas e vocais que podem ser encontradas em indivíduos com essa doença. A fim de estabelecer o diagnóstico fonoaudiológico, foi realizada avaliação das condições motoras orofaciais e produção da fala, além de eficiência da deglutição. Com base nessas avaliações, observaram-se dificuldades na coordenação e na sustentação muscular durante a fala e presença de disfagia orofaríngea. Os achados fonoaudiológicos na Doença de Fahr manifestam-se de forma complexa, incluindo disfagias e disartria e as doenças que acometem os núcleos da base apresentam quadros semelhantes de alterações fonoaudiológicas do sistema estomatognático, podendo apresentar quadro de disartria.

Alterações comportamentais graves em paciente com doença de Fahr / Severe behavioral changes in a patient with Fahr's disease / Severe behavioral changes in a patient with Fahr's disease

Relatamos o caso de um homem de 40 anos de idade com doença de Fahr, definida por calcificações idiopáticas bilaterais em núcleos da base, que desenvolveu transtorno depressivo, tiques motores e fônicos, comportamentos estereotipados tipo "punding" e alterações de personalidade com importantes implicações sócio-familiares. Discutimos as manifestações psicopatológicas da doença de Fahr e a importância dos núcleos da base na determinação do comportamento humano.

We report on a case of a 40 year-old man with Fahr's disease, defined by idiopathic bilateral basal ganglia calcification, who developed depressive disorder, motor and phonic tics, stereotyped behaviors such as punding and personality changes with significant social and familiar implications. We discuss about the psychopathology of FahrÆs disease and the relevance of the basal ganglia in the determination of humanÆs behavior.

Cambios neuropsicológicos y neurofisiológicos en la enfermedad de Fahr / Neuropsychological and neurophysiological features of Fahr's disease

BACKGROUND: Fahr's disease (basal ganglia calcification) is characterized by bi hemispherical calcium deposition in basal ganglia, dentate nucleus and semioval center. Its clinical manifestations are a rigid hypokinetic syndrome, mood disorders and cognitive impairment. AIM: To report to the results of a neurological assessment of three siblings with Fahr disease. PATIENTS AND METHODS: Three sisters, aged 55, 56 and 58 years, were studied. All had a rigid hypokinetic clinical picture associated with cerebellar involvement and a cognitive impairment that progressed in 8, 6 and 10 years respectively. Brain CAT scans showed symmetric and extensive calcifications of cerebellar white matter and dentate nuclei, pons, mesencephalon, lenticular nuclei, thalami and semioval centers. Hypoparathyroidism was ruled out. Cognition was assessed with WAIS and Benton tests and Weschler memory scale. The time of reaction to visual stimuli was studied. The processing speed of visual information and the interhemispheric conduction time of such information, were calculated. Cognitive evoked potentials (P 300) were also studied. RESULTS: Cognitive impairment involved verbal and visual-spatial memory, planning, attention and concentration capacities and visual constructive skills. There was a prolongation of reaction time latencies and loss of the normal asymmetry of interhemispheric transmission (without right to left facilitation). P 300 evoked potentials were absent. CONCLUSIONS: These observations suggest that the pathogenesis of cognitive and motor changes in Fahr's disease is based in a dysfunction of cortico basal connections and their interhemispheric relations. This defines a subcortical dementia secondary to mineral deposits in subcortical structures.

Involuntary hand levitation associated with parietal damage: another alien hand syndrome

The alien hand syndrome (AHS) usually consists of an autonomous motor activity perceived as an involuntary and purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognise ownership of the limb in the absence of visual clues. It has been described in association to lesions of the frontal lobes and corpus callosum. However, parietal damage can promote an involuntary, but purposeless, hand levitation, which, sometimes, resembles AHS. In the present study, four patients (cortico-basal ganglionic degeneration -- n=2; Alzheimer's disease -- n=1 and parietal stroke -- n=1) who developed alien hand motor behaviour and whose CT, MRI and/or SPECT have disclosed a major contralateral parietal damage or dysfunction are described. These results reinforce the idea that parietal lobe lesions may also play a role in some patients with purposeless involuntary limb levitation, which is different from the classic forms of AHS

Relationship between obsessive-compulsive disorders and diseases affecting primarily the basal ganglia

Obsessive-compulsive disorder (OCD) has been reported in association with some neurological diseases that affect the basal ganglia such as Tourette's syndrome, Sydenham's chorea, Parkinson's disease, and Huntington's disease. Furthermore, studies such as neuroimaging, suggest a role of the basal ganglia in the pathophysiology of OCD. The aim of this paper is to describe the association of OCD and several neurologic disorders affecting the basal ganglia, report the existing evidences of the role of the basal ganglia in the pathophysiology of OCD, and analyze the mechanisms probably involved in this pathophysiology.

Non-typhoid Salmonella meningitis complicated by a infarction of basal ganglia

A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid Salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. Brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis.

Hipogonadismo hipogonadotrófico concomitante à síndrome de Fahr / Hypogonadotropic hypogonadism concomitant with Fahr's syndrome

Os autores apresentam o caso de uma paciente feminina, com diagnóstico de hipogonadismo hipogonadotrófico, que apresenta calcificaçöes simétricas no nível de gânglios da base e denteados, compatíveis com a síndrome de Fahr. Em evoluçäo de 15 anos, o quadro clínico, hormonal e radiológico se manteve estável. Ao conhecimento dos autores, a concomitância aqui descrita entre a doença neuroendócrina e as calcificaçöes cranianas constitui-se no primeiro relato da literatura.

Hemicoréia-hemibalismo associado a hemorragia em gânglios da base em diabete mélito descompensado: relato de dois casos / Hemichorea-hemibalism associated to basal ganglia hemorrhage in uncontrolled diabetes mellitus: report of two cases

Os autores apresentam dois casos de hemicoréia-hemibalismo de início súbito em pacientes portadoras de diabete mélito desconpensado, cujas tomografias computadorizadas de crânio revelaram hemorragia difusa nos gânglios da base contralaterais aos movimentos anormais. A descriçao de caso em paciente jovem e portadora de diabete mélito insulino-dependente é inédita. Os autores discutem os mecanismos fisiopatológicos que tentam explicar a relaçao entre a hiperglicemia nao-cetótica e o quadro de hemicoréia-hemibalismo associado a lesao estrutural ao nível de núcleos da base.

Brain abscess from a ganglionic hemorrhage: a case report

We present a unique case of a brain abscess that occurred secondary to a ganglionic hemorrhage in a 64-year-old man. This abscess appeared to be metastatic after septicemia. Aspiration with antibiotics eliminated this infection.

Associaçäo de doença de Wilson e síndrome extrapiramidal näo wilsoniana na mesma família / Association of Wilson's disease and with non Wilsonian extrapyramidal syndrome in the same family

Distúrbios do movimento, geralmente de tipo distônico, têm sido relatados em heterozigotos para doença de Wilson (DW). O presente relato assinala a presença em uma mesma família de heterozigoto para DW com quadro distônico e sua sobrinha com quadro clássico de DW. Discutem-se as peculiaridades dessa família, comparando-se aos dados da literatura, bem como os possíveis mecanismos etiopatrogênicos envolvidos