Alexandre Novicki Francisco

Unilateral pallidotomy in a patient with parkinsonism and G2019S LRRK2 mutation

We read with great interest the study by Schupbach et al. describing the motor effects of high-frequency stimulation of the subthalamic nucleus (STN) in patients with parkinsonism because of leucine-rich repeat kinase 2 (LRRK2) mutations. The authors presented the outcome of 9 patients with heterozygous LRRK2 mutations out of 69 genetically tested Parkinson’s disease (PD) patients operated on for bilateral STN stimulation. Clinical response was similar in both groups; therefore, patients with LRRK2 mutations should be considered as good candidates for this type of intervention. Although interventions using deep brain stimulation (DBS) have proven to be more efficacious and safe than stereotactic ablative surgery in PD, the latter form of treatment continues to be performed routinely in countries where DBS is not widely available or affordable. We had the opportunity to follow a PD patient who carried a heterozygous G2019S LRRK2 mutation treated with unilateral pallidotomy. The patient is now 50 years old and presented with an apparently sporadic form of PD at the age of 39 years. Her first symptoms were right hand and foot resting tremor, and right-sided bradykinesia and rigidity. As she could not tolerate even low doses of dopamine agonists (pramipexol and bromocriptine) due to GI side effects, selegiline monotherapy was used during the first year and then L-dopa was started. On follow-up after 3 years, bilateral parkinsonism was noted. After 5 years from onset the patient was taking 800 mg of L-dopa a day divided in four doses, but experienced significant disability caused by peakdose dyskinesias and motor fluctuations (wearing-off). Amantadine 100 mg tid was added with transient reduction of motor complications. After a few months, the patient returned for a follow up complaining of visual hallucinations with good insight, lower limb edema, and livedo reticularis. As amantadine was withdrawn, dyskinesias on the right side of the body became intolerable leading to dependence for activities of daily living (ADLs). Eventually, a left pallidotomy was recommended. Preoperative assessment included UPDRS part II (OFF) score 25, III (OFF) score 36 and IV items 32–34 (ON) score 5. CT scan was used to determine the position of the target structure. The target coordinates for pallidotomy were 2 mm anterior to the midcommissural point, 5 mm below the intercommissural line, and 22 mm lateral to the midplane of the third ventricle. A macroelectrode was used for test stimulation over a 10 mm distance for each trajectory to identify the optimal target. The final target location was determined in the position where rigidity and bradykinesia improved with the lowest current intensity of high frequency stimulation (100 ls and 130 Hz) and where the fewest side effects occurred with high and low frequency stimulation (maximum 5 V, 100 ls, and 130 Hz and 2 Hz). Radiofrequency thermolesions (60–758C for 60 seconds) were made in 2 mm steps with the same macroelectrode. Postoperative assessment at 2 weeks showed significant improvements in OFF ADL (16) and motor scores (24) as well as in dyskinesias (score 1 for item 32 and 0 for the remaining). Six months after surgery, scores remained improved compared with preoperative function. Adverse effects included mild and transient confusion in the immediate postoperative period, worsening of salivation, and postural instability (UPDRS item no. 30: 2, no history of falls). On a recent follow-up, the patient consented to participate in an ongoing genetic study, and a mutation screening of the LRRK2 gene was performed with the identification of a heterozygous G2019S LRRK2 mutation. Most cases of parkinsonism with G2019S LRRK2 mutation described in the literature show a clinical presentation very similar to that of idiopathic PD, including good L-dopa response. As L-dopa responsiveness is one of the best predictors for outcome after STN DBS for PD, the results of the study by Schupbach et al. are not unexpected. To our knowledge, the case described here is the first report of patient with parkinsonism and a documented LRRK2 mutation treated successfully with ablative pallidal surgery. Although a single case report limits extrapolations to a general conclusion, our results were considered to be similar to those of non-genetically linked PD patients routinely operated on in our service. We consider that this type of surgery remains an option when high frequency stimulation is not available.

Mielotomia punctiforme no tratamento da dor oncológica visceral: análise de três casos

INTRODUCTION: A new midline posterior column pathway related to visceral pain has been recently discovered. OBJECTIVE: To present its interruption by a punctate midline myelotomy providing significant visceral oncologic pain relief. METHOD: Three patients with abdominal cancer refractory pain from opiate analgesics were treated by a punctate midline myelotomy through thoracic laminectomy. RESULTS: Complete pain control was achieved in two patients, one had no more narcotics and the other one had significant lowering of opiate intake doses. The third patient was intolerant to narcotics having 80% relieving pain. There were no postoperative neurological deficits. CONCLUSION: The present report reaffirms the existence of a dorsal column midline pathway related to visceral pain in humans, and its interruption ameliorates abdominal pain due to cancer.

Origem da artéria cerebelar inferoposterior sobre o arco posterior de C1

A artéria cerebelar inferoposterior geralmente nasce do segmento intracraniano (V4) da artéria vertebral. Apesar de ter diâmetro médio de 2 mm, usualmente irriga áreas eloquentes do encéfalo. Quando ocluída, seja por trauma ou cirurgia, pode causar infarto no tronco encefálico e no cerebelo. Apresentamos um caso de artéria cerebelar inferoposterior com origem anômala no segmento cervical (V3) da artéria vertebral, demonstrado por angiografia. Os resultados foram registrados e comparados com os de publicações anteriores. Foram fornecidas breves explicações sobre a anatomia, anomalias vasculares e embriologia. A revisão da literatura mostrou que os ramos anômalos do segmento cervical da artéria vertebral são infrequentes e devem ser conhecidos. Uma melhor compreensão da anatomia e suas variações permite fazer um diagnóstico topográfico preciso, bem como planejar a abordagem e a terapia cirúrgicas ideais. O conhecimento dessa variação anatômica é essencial, pois, se confundida com um ramo muscular e coagulada, pode causar isquemia com sequelas incapacitantes.

Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma

PHACE(S) syndrome is a neurocutaneous syndrome with a wide array of presentations. The most known and present trait is facial hemangioma > 5 cm. The name is an acronym for Posterior fossa malformations, infantile Hemangiomas, Arterial anomalies, aortic Coarctation, Eye abnormalities, and middle-line malformations of the Sternum. The exact etiopathogenic mechanism of this syndrome is not fully understood, and its treatment depends on detailed and individualized assessment. The aim of this paper is to describe a child with a throat hemangioma, vascular malformations, cognitive delay, and other anomalies to illustrate the neuroimaging found in this syndrome.

Is the Mayfield Head Holder Obligatory for Intracranial Aneurysm Clipping

Intracranial aneurysm surgery is commonly performed using pinned head holders, which pose a higher risk for the pediatric population. Several authors recommend avoiding the use of this device when it is not strictly necessary, and this is currently possible considering advances in anesthesiology and monitoring. As the literature on microsurgery without skull clamp use is scant, we report the case of a 15-year-old boy presenting with a subarachnoid hemorrhage after rupture of a middle cerebral artery aneurysm. Surgical treatment was performed with the head resting on a gel cushion horseshoe; aneurysm clipping was achieved without wakefulness or awareness and the patient had a good recovery.

Endovascular treatment of cerebral aneurysm after renal transplantation in polycystic kidney disease

Background Patients with polycystic kidney disease have a higher prevalence of intracranial aneurysms and may progress to renal failure requiring transplantation. The endovascular treatment of intracranial aneurysms may improve prognosis, since rupture often causes premature death or disability, but the nephrotoxicity risk associated with contrast medium must be always considered in cases of renal impairment. Methods A 55-year-old female patient with polycystic kidney disease and grafted kidney associated with anterior communicant artery aneurysm was successfully treated by embolization. Results The renal function remained normal after the procedure. To the authors’ knowledge, this is the first case of endovascular treatment of brain aneurysm in a transplanted patient reported in the medical literature. Conclusions The endovascular procedure in renal transplant patients is feasible and can be considered to treat this population. Further studies and cases are needed to confirm its safety.

Internal Carotid Artery Dissection in Brazilian Jiu-Jitsu

Carotid artery dissection is a significant cause of stroke in young patients. It may be asymptomatic and go undiagnosed, or minimal transient manifestations may follow, commanding a higher index of suspicion than ordinarily exists to avoid misdiagnosis. Reported herein is a 27-year-old man who suffered extracranial internal carotid artery dissection while practicing a Brazilian Jiu-Jitsu submission maneuver. The patients condition suddenly deteriorated one week later due to distal embolization and stroke. Despite endovascular treatment, with stenting of the cervical carotid artery, neurologic deficits remained. Of note, the objective in martial arts, which is to kill or incapacitate, has yet to be fully tempered in transitioning to sport. Brazilian Jiu-jitsu, a relatively new and fast-growing form of martial art, places emphasis on submission maneuvers. Related injuries are not common knowledge and are poorly described in the literature. This account is intended to shed light on the risk of this discipline. Through education and improved supervision, vascular injuries of this nature and the potentially lethal or disabling consequences may thus be prevented in young athletes.

Freezing of Gait 3 Years After Bilateral Globus Pallidus Internus Deep Brain Stimulation in Generalized Dystonia

DBS of the globus pallidus internus (GPi) is a safe, long-term effective treatment for medically refractory dystonia. However, complications and side effects may occur. Freezing of gait (FOG) is a rare phenomenon in patients with dystonia, although very frequently observed in Parkinson’s disease (PD). It can very disabling and may severely impair quality of life, even when episodic. We report on a 43-year-old left-handed man presenting with rigidity, FOG, impairment in balance and walking difficulties 3 years after successful bilateral GPi DBS for primary generalized dystonia.