Clara Chamadoira

Early deep brain stimulation in patients with myoclonus-dystonia syndrome

Myoclonus-dystonia (MD) is a rare movement disorder which is disabling and frequently refractory to medical treatment. Deep brain stimulation (DBS) of the globus pallidus interna (GPi) has been used to treat some patients. Although there is significant motor improvement with DBS, the impact on disability and on quality of life has been infrequently reported. Also, the benefit of the procedure is not established in patients without ε-sarcoglycan gene (SGCE) mutations. We present two patients with severe MD treated with GPi-DBS, one of the patients without a SGCE mutation. Motor improvements (rest/action/total subscores of the Unified Myoclonus Rating Scale and movement subscore of the Burke-Fahn-Marsden Dystonia Rating Scale [BFMRS]) and disability (BFMRS disability subscore) were carefully evaluated preoperatively and at 6 and 12months after surgery. Quality of life (addressed using the Portuguese version of the Medical Outcomes Study 36-item Short-Form General Health Survey, version 2.0 [SF-36v2]) was tested preoperatively and 12months after DBS. At 12-month follow-up, myoclonus improved 78.6% in Patient 1 and 80.7% in Patient 2, while dystonia improved 37% and 86.7%, respectively. Improvements in disability ranged from 71.4% to 75%. With regard to quality of life, all parameters addressed by the SF-36v2 improved or stabilized in both patients. No major adverse effects were noticed. Improvements in motor symptoms are consistent with reports in the literature and were obtained regardless of the identification of a SGCE gene mutation. There were also significant benefits on disability and quality of life. DBS should be considered for MD.

Neuralgia del trigémino provocada por un tumor del ángulo ponto-cerebeloso contralateral. Caso clínico

Summary In most cases, trigeminal neuralgia is due to compression of the trigeminal nerve in the zone of entrance at the pons by vascular structures. About 1% of cases, have trigeminal neuralgia associated with the presence of ipsilateral lesion of cerebellar-pontine angle. Rarely, trigeminal neuralgia may be due to contralateral posterior fossa tumors. We present a case of a 37-year- old patient who presented with right trigeminal neuralgia and harboured a left acoustic neuroma of significant dimension. Facial pain completely disappeared after tumor removal.

Twiddler (or Not) Syndrome: Questioning etiology for an uncommon form of hardware malfunction in deep brain stimulation.

Background: Hardware failure or malfunction after deep brain stimulation is an infrequent but costly occurrence with currently available systems. Case Description: The authors present the case of a 65-year-old female patient with predominantly tremoric Parkinsons disease who, 4 months after bilateral subthalamic nucleus stimulation with very good clinical results, began to display signs of recurrent disease and an increasingly smaller response to stimulation. Radiological studies, changes in electrode impedance and surgical findings and results established the diagnosis of Twiddler syndrome. Close patient follow-up, lack of a psychiatric history and physical examination findings were, however, contrary to the previously described causative mechanism. Conclusion: The clinical and radiological setup of Twiddler syndrome must be readily recognized. Its causative mechanism should remain under discussion, and intraoperative technical details may help to explain its occurrence.

Long-Term Mortality Analysis in Parkinson’s Disease Treated with Deep Brain Stimulation

Background. Few data have been published regarding long-term mortality in patients with Parkinsons disease treated with DBS. Methods. This study analyzed long-term mortality rates, causes, and correlates in PD patients treated with DBS. Results. 184 consecutive patients were included; mean follow-up was 50 months. Fifteen deaths occurred (total 8.15%, annual mortality rate 1.94%). Mean age at disease onset and at surgery was 48 ± 2.4 and 63 ± 1.6 years, respectively. Mean disease duration until death was 21 ± 7.8 years. Most deaths related to stroke, myocardial infarction, other vascular/heart disorders, or severe infection; one suicide was recorded. Deceased PD patients were mostly male and had lower motor benefit after DBS, but univariate analysis failed to show significant differences regarding gender and motor benefit. Survival was 99% and 94% at 3 and 5 years. Conclusions. Long-term survival is to be expected in PD patients treated with DBS, possibly higher than previously expected. Death usually supervenes due to vascular events or infection.

Lung cancer: atypical brain metastases mimicking neurocysticercosis.

The authors describe a case of a 47-year-old male smoker with a 3-month history of hearing loss, tinnitus and dizziness. Physical examination revealed neurosensory hearing loss. Small rounded hypodensities without mass effect were evident in a computed tomography scan of the head, confirmed by brain magnetic resonance imaging as multiple cystic lesions in both cerebral and cerebellar hemispheres, without perilesional edema or gadolinium enhancement, suggestive of neurocysticercosis. Extraparenchymal involvement was also noted. Albendazole and dexamethasone were started. As a chest radiograph showed a bilateral reticulonodular pattern, a bronchoscopy was performed showing normal results. However, transbronchial biopsy revealed lung adenocarcinoma. Thoracoabdominopelvic computed tomography scan showed secondary lung and bone lesions. Since brain lesions were not suggestive of secondary tumor lesions, a brain biopsy was performed confirming metastatic disease. This case illustrates some peculiar imagiological features of brain metastases in lung cancer, indicating that sometimes invasive procedures are required to establish a definitive diagnosis.

Epithelioid sarcoma of the spine: Case report and literature review

Epithelioid sarcomas are rare mesenchymal neoplasms mainly arising in the limbs of young adults. We report the case of a 24-year-old male presenting low back pain radiating to both lower limbs, constipation and urinary retention. The MRI scan showed an intraspinal lesion extending from L4 to S2. Surgery resulted in gross total removal of the extradural lesion and partial removal of the intradural component. The immunohistological study of the lesion was consistent with an epithelioid sarcoma. The patient was submitted to radiotherapy and chemotherapy, but a local recurrence of the lesion and dissemination along the neuraxis were observed 3 months after surgery. Despite treatment, the patient died 4 months after the surgical procedure due to multiorgan failure. Despite there being isolated reports of epithelioid sarcomas appearing in the spine, this is, to our knowledge, the first case with intradural extension.

Malformación cavernosa de la región pineal. Caso clínico y revisión de la literatura

Resumen Las malformaciones cavernosas de la region pineal son raras, con solamente 21 casos publicados hasta el momento en la literatura. A pesar de la dificultad de su diagnostico debido a su extrema rareza, la presencia de esta lesion puede ser sospechada basandonos en sus caracteristicas radiologicas. Presentamos el caso de una paciente de 57 anos de edad, con un cuadro clinico de instauracion aguda de desorientacion, somnolencia y diplopia. La TC cerebral mostro una hemorragia aguda en la region pineal e hidrocefalia triventricular asociada y la RM cerebral fue sugestiva de que se tratase de una malformacion cavernosa. La paciente fue operada con escision total de la lesion y el estudio histologico confirmo el diagnostico de angioma cavernoso. Concluimos que la cirugia para extraccion total de la lesion es el tratamiento de eleccion cuando, basados en la imagen, sospechamos un angioma cavernoso de la region pineal.

Decompressive craniectomy for massive internal carotid artery infarction after pediatric penetrating neck trauma

Pediatric penetrating carotid arterial trauma is a rare unreported cause of malignant cerebral infarction. Despite increasing evidence of benefit of decompressive hemicraniectomy (DCH) in pediatric malignant stroke, indications and predictors of outcome remain controversial. We report a 4-year-old boy with penetrating zone II neck trauma with laceration of the right internal carotid artery who developed malignant cerebral infarction requiring DCH. Impressive neurological recovery and excellent functional outcome was observed with good psychomotor development and quality of life. To our knowledge, this is the first reported case of pediatric malignant ICA infarction due to penetrating arterial trauma with good neurologic outcome after DCH.