Harutomo Hasegawa

The treatment of persistent vascular hemidystonia-hemiballismus with unilateral GPi deep brain stimulation.

We describe a case of a severe refractory hemidystonia–hemiballismus resulting from hemorrhage of the right subthalamic nucleus, which was managed with unilateral globus pallidus internus (GPi) deep brain stimulation (DBS). A 56-year-old man with a history of hypertension presented with a sudden onset of headache, left hemiparesis, and dysarthria. A brain computed tomography (CT) scan showed a small focal hematoma in the right pons, midbrain, and subthalamic region. The hemiparesis and dysarthria improved over several days, although not to normality. Four days after presentation, he started to notice left sustained twisting of the wrist, posturing of the arm, held in extension, and sudden flinging movements of the whole arm. This progressed over weeks to reach a stable but disabling level that affected his balance whilst walking, and which prevented him from performing bimanual tasks since the left arm would suddenly deviate outwards. He underwent inpatient neurorehabilitation and was discharged home 1 month later, but continued to have severe ballistic movements despite maximum tolerated medication including tetrabenazine (37.5 mg/tds), haloperidol (3 mg/tds), orphenadrine (50 mg/tds), and botulinum toxin (500 U to left pectoralis). The arm was prone to frequent trauma due to uncontrollable movements. After 3 years of unsuccessful medical therapy, he was referred for functional neurosurgery and underwent multidisciplinary evaluation for DBS. Physical examination revealed no contractures but on attempting to use his arms even minimally, he would develop a 908 flexed posture of the left wrist, and an externally rotated extended left arm (reminiscent of a waiter’s tip), which would suddenly deviate backwards and laterally. There were some milder dystonic and choreic movements of the left leg. He walked with his arm firmly adducted to the body with the elbow in full extension. There was no spasticity in the limbs, and the remainder of the neurological examination was normal (Supporting Information Video). Brain MRI showed a focus of low signal on T2 and FLAIR within the right side of the midbrain with extension into the substantia nigra and subthalamic nucleus (STN) consistent with hemosiderin deposition following previous hemorrhage (Fig. 1A). Magnetic resonance angiography, neuropsychological, and neuropsychiatric testing revealed no abnormalities precluding DBS. Three years after the onset of his symptoms, a quadripolar DBS electrode (Medtronic 3389) was placed in the right GPi using direct MRI guided targeting under general anaesthesia (Fig. 1B). The battery was implanted in the same session. There were no complications. The DBS was switched on 2 days postoperatively. The initial parameters were case positive, contact one negative, amplitude 1.5 V, pulse width 60 ls, frequency 130 Hz. An improvement was noted in the involuntary movements within days, with the patient being able to perform the ‘‘finger-nose’’ test with the left hand. Regular physiotherapy was provided, and the amplitude was gradually increased to 4.5 V over the next 6 months, at which time the ballistic movements had been eliminated, although the dystonic posturing of the left wrist persisted (Supporting Information Video). Some functionality was restored, and the patient could hold pans, open doors, and walk with more ease without injuring the left arm. Standardized measures of symptom severity were not used in this case because of the lack of such scales for ballism, which was the predominant problem. However, the benefit of surgery is apparent in the videos that demonstrate the transition from the preoperative state, in which the left arm is unusable and susceptible to frequent trauma, to the postoperative state in which the patient can use the left arm purposefully. His clinical condition has remained stable at 15 months follow-up. The patient clinically had hemidystonia and hemiballismus. Phasic dystonia has been shown to respond to GPi DBS, hence our view to offer this treatment. Ventrolateral thalamotomy and posteroventral pallidotomy have been shown to improve hemiballismus arising from STN lesions, but we are not aware of any GPi DBS reports for persistent hemidystonia–hemiballismus, possibly due to the rarity of this condition. The incidence of refractory hemiballismus after stroke was 0.04% in a large series. This case demonstrates the efficacy of GPi DBS for hemiballismus associated with phasic dystonia. The persistence of dystonic posturing in this case suggests that the response of dystonia may not be immediate but could improve with time, presumably due to plastic changes within the basal ganglia and thalamo-cortical loops.

Bilateral subthalamic nucleus deep brain stimulation for refractory total body dystonia secondary to metabolic autopallidotomy in a 4-year-old boy with infantile methylmalonic acidemia

The methylmalonic acidemias (MMAs) are a group of inborn errors of metabolism resulting in the accumulation of methylmalonic acid in body tissues and fluids. A recognized complication of MMA is bilateral liquefaction of the globus pallidi, resulting in a fulminant total body dystonia of childhood often refractory to medical treatment. This case of total body dystonia due to MMA in a 4-year-old boy had been medically refractory for 15 months. Complete metabolic destructive liquefaction of the pallidi, that is, autopallidotomy, necessitated an alternative, bilateral subthalamic nucleus (STN) target for deep brain stimulation (DBS) with a marked improvement in dystonia and reduction in pain. The case illustrates the efficacy of STN DBS in this condition and the technical challenges in targeting the STN in a small child.

The treatment of combined trigeminal and glossopharyngeal neuralgia by glycerol rhizolysis of the trigeminal ganglion

Abstract A 78-year-old man with combined trigeminal and glossopharyngeal neuralgia underwent glycerol rhizolysis of the trigeminal ganglion. The treatment led to the immediate relief of both neuralgias. We discuss the potential mechanism of this unexpected therapeutic effect with reference to the pathophysiology of trigeminal and glossopharyngeal neuralgia.

Third-ventricle enterogenous cyst presentation mimicking a colloid cyst: uncommon presentation of a rare disease and literature review

Enterogenous cysts (ECs) are endodermal lesions resulting from splitting anomalies in the neuroenteric canal. We report the case of a 64-year-old patient who presented with a sudden headache followed by collapse. Brain computed tomography revealed a hyperdense lesion in the anterior part of the third ventricle with obstructive hydrocephalus. A presumptive diagnosis of colloid cyst was made and he underwent a right transcortical approach for lesion resection. The histopathological examination revealed an EC. ECs are common lesions in the cervical-thoracic spine but rare in the supratentorial compartment with only two previously described cases occurring in the third ventricle.

GPi deep brain stimulation for palliation of hemidystonia and hemibody jerking in a patient with suspected adult onset neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCL) are inherited neurometabolic disorders which present in infants, adolescents or adults. The adult forms, which present with seizures, spasticity, visual symptoms and movement disorders, are genetically heterogeneous and can be clinically and histologically challenging to diagnose and manage [1]. Here we present one such clinical scenario. A 48 year old previously healthy woman presented with a 6 month history of progressive stiffness of the right leg. An unclassified neuropathy was reported in her mother. Brain and spinal MRI, CSF analysis

Transient cauda equina syndrome: a subtle but sinister sign

A 54-year-old man presented with symptoms of cauda equina syndrome, which spontaneously resolved. Initial MRI did not show any compression of the cauda equine; however, an unusual pattern of epidural fat lead to further investigation and ultimately the diagnosis.