Wilson’s Disease - A Case Report

Introduction: Wilson's disease (WD) is a disorder of coppermetabolism leading to the accumulation of this metal indifferent organs. Hepatic manifestations tend to occur in thefirst decade and neurological symptoms in the third decade.Neurological manifestations are said to worsen with chelationtherapy.Case report: In our patient however the initial manifestationwas head tremor at the age of 43 years which improved withtreatment. The patient for some reason stopped the therapy for8 years after which he decided to resume it only to precipitatethe liver cirrhosis clinically –something that has not beenreported earlier. The diagnosis was missed initially. Howevertreatment produced good results.Conclusion: The case also serves as a reminder not to dismissthis disease as a rare theoretical possibility but to suspect itin a case of liver cirrhosis of unknown etiology or when thepatient presents with an obscure isolated neurological signsuch as tremor. Delayed recognition of the disease or stoppingtherapy can lead to a progression of the disease. The patienthad many unusual features which are being reported for futurereference by researchers and practioners

Benign Familial Essential Head Tremor: A Case Report

Introduction: Essential tremor is a movement disordercharacterized by tremors of the hands and head and seen in5-10% of patients above the age of 60 years.Case report: We report a case of benign essential familialhead tremor that was diagnosed when the patient was referredfor psychiatric fitness and that responded very well toPropranolol.Conclusion: It is a condition where the causative factors andthe pathophysiology are ill understood and there are no fixedneuroimaging paradigms for the disorder.

Retrocollis, anterocollis or head tremor may predict the spreading of dystonic movements in primary cervical dystonia / Retrocolis, anterocolis ou tremor cefálico podem predizer a progressão dos movimentos distônicos em pacientes com distonia cervical primária

BACKGROUND AND PURPOSE: Few studies have attempted to develop clinical predictors for cervical dystonia (CD) aiming at progression of the dystonic movement. METHOD: We retrospectively evaluated 73 patients with primary CD who underwent treatment with Botulinum toxin type-A (BTX-A). The patients were assembled in two groups according to the spread of dystonia during follow-up: spreading and non-spreading CD. We performed a binary logistic regression model using spreading of cervical dystonia as dependent variable aiming to find covariates which increase the risk of spreading. RESULTS: Our logistic regression model found the following covariates and their respective risk ratios: time of disease >18.5 months=2.4, retrocollis=1.9, anterocollis=1.8, head tremor=1.6. CONCLUSION: Time of disease >18.5 months, retrocollis, anterocollis and head tremor may predict spreading of dystonic movement to other regions of the body in CD patients.

INTRODUÇÃO: Poucos estudos avaliam preditores clínicos de progressão dos movimentos distônicos, para além da região cervical, em pacientes com distonia cervical (DC) primária. MÉTODO: Avaliamos, retrospectivamente, 73 pacientes com DC primária, que tinham sido submetidos ao tratamento com a toxina botulínica tipo A (BTX-A). Estes pacientes foram divididos em dois grupos de acordo com a progressão ou não da DC para outras áreas do corpo. Aplicamos um modelo de regressão logística binária usando a progressão da distonia como variável dependente com o objetivo de identificar co-variáveis que aumentassem o risco de progressão. RESULTADOS: O modelo de regressão logístico identificou as seguintes co-variáveis como preditoras de progressão e seus respectivos índices de risco: tempo de doença >18,5 meses=2,4, retrocolis=1,9, anterocolis=1,8, tremor cefálico=1,6. CONCLUSÃO: Tempo de doença >18,5 meses, retrocolis, anterocolis, e tremor cefálico podem predizer a progressão do movimento distônico para outras regiões do corpo em pacientes com DC primária.

Head tremor in patients with cervical dystonia: different outcome? / Tremor cefálico em pacientes com distonia cervical: evolução diferente?

OBJECTIVE: The association of cervical dystonia (CD) with other movement disorders have been already described, but data on clinical outcome regarding these patients are scant. The aim of this paper was to investigate whether patients with CD and head tremor (HT) would have a different outcome regarding to botulinum toxin type-A (BTX-A) treatment response and clinical and demographic parameters. METHOD: We retrospectively evaluated 118 medical charts of patients with CD and divided them into two groups: with (HT+) and without (HT-) head tremor. We compared the following clinical and demographic parameters: age at onset, disease duration, progression of symptoms, etiology, familial history, presence of hand tremor. We also analyzed the response to BTX-A according to Tsui score in both groups. RESULTS: The occurrence of head tremor in our sample was of 38.2 percent. The occurrence of postural hand tremor in the patients from the HT+ group was higher than in the HT- one (p=0.015) and if we compare BTX-A response in each group, we observe that patients with HT present a better outcome in a setting of longer follow-up. In HT+ group, Tsui score pre treatment was 10 (6-12.5) and after follow-up was 8 (5.5-10.5); p<0.001. In HT- group there was no significant difference 9 (7-12) in pre treatment and after follow-up; p=0.07. CONCLUSION: According to our data it seems that head tremor may influence the clinical outcome or treatment response with BTX-A in patients with CD.

OBJETIVO: A associação de distonia cervical (DC) com outros transtornos do movimento já foi descrita, mas há poucos dados quanto à evolução clínica destes pacientes. Avaliamos se os pacientes com DC e tremor cefálico (TC) apresentam características clínicas e demográficas, assim como a resposta ao tratamento com toxina botulínica tipo A, diferentes. MÉTODOS: Analisamos retrospectivamente 118 prontuários de pacientes com DC e os dividimos em dois grupos: com (TC+) e sem (TC-) tremor cefálico. Comparamos os seguintes parâmetros clínicos e demográficos entre os grupos: idade de início, duração da doença, progressão de sintomas, etiologia, história familiar, presença de tremor em mãos. Também analisamos a resposta ao tratamento com toxina botulínica de acordo com escore Tsui em ambos os grupos. RESULTADOS: A ocorrência de tremor cefálico em nosso grupo de pacientes foi 38,2 por cento. A ocorrência de tremor postural nas mãos em pacientes TC+ foi maior (p=0,015) e se compararmos a resposta ao tratamento com toxina botulínica em cada grupo, observamos que os pacientes com TC têm melhor evolução em uma situação de seguimento mais prolongado. No grupo TC+, o escore Tsui pré-tratamento foi 10 (6-12,5) e após o período de "follow-up" foi 8 (5,5-10,5); p<0,001. No grupo TC-, não houve diferença significante: 9 (7-12) no pré-tratamento e após período de "follow-up"; p=0,07. CONCLUSÃO: Nossos dados apontam que o tremor cefálico pode influenciar a evolução clínica ou resposta ao tratamento com toxina botulínica em pacientes com DC.

Efficacy of Thalamotomy and Thalamic Deep Brain Stimulation for the Treatment of Head Tremor

OBJECTIVE: Stereotactic thalamic procedure is well known to be a effective treatment for disabling upper limb tremor of essential tremor. However, the effect of this procedure for head tremor, which is midline symptom of that disease entity, has not been sufficiently established. The authors discuss the result of stereotactic thalamic operations for head tremor of their patients who suffered from essential tremor. METHODS: We evaluated 4 patients of essential tremor who had head tremor combined with both upper limb tremor. One patient underwent unilateral ventralis intermedius thalamotomy, two patients had unilateral Vim deep brain stimulation(DBS) and one patient had unilateral Vim thalamotomy and contralateral DBS. Postoperative results of tremor were evaluated using our proposed scale. RESULTS: Contralateral upper limb tremors to surgical side were markedly resolved in all patients but there was no meaningful effect for head tremor in 3 patients who underwent unilateral thalamic surgery. In a patient having simultaneously unilateral thalamotomy and contralateral DBS, remarkable improvement of head tremor was observed. CONCLUSION: Although it is difficult to evaluate the efficacy of thalamic surgery for axial symptom of essential tremor with a few cases, simultaneous unilateral thalamotomy and contralateral DBS would be expected to induce favorable outcomes for head tremor with significant economical advantages.