Bilateral Pallidal Lesions Research Articles

Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant: A Case Report.

SLC6A1-related disorders encompass heterogeneous neuropsychiatric manifestations through GABAergic dysregulation, without any specific abnormalities on brain MRI, nor evidence of dopaminergic cell loss on I123-FP-β-CIT SPECT. We report here a case of globus pallidus lesions and dopaminergic denervation in a patient with a pathogenic SLC6A1 variant. A 26-year-old female patient with intellectual disability, behavioral, and psychiatric disorders treated by neuroleptics for many years developed a parkinsonian syndrome associated with mild hand dystonia and chorea. A 3T brain MRI and I123-FP-β-CIT SPECT were performed. MRI of the brain found bilateral pallidal lesions consistent with neurodegeneration with iron accumulation. The I123-FP-β-CIT SPECT showed bilateral striatal presynaptic dopaminergic denervation. Whole-genome sequencing revealed a pathogenic SLC6A1 de novo variant. No additional variant was found in any of the genes responsible for Neurodegeneration with Brain Iron Accumulation (NBIA). This is a description of dopaminergic denervation and globus pallidus lesions with iron accumulation related to a SLC6A1 pathogenic variant. These findings expand the phenotype of SLC6A1-related disorder and suggest that it could be considered as a differential diagnosis of NBIA.

Acute loss of psychic self-activation after cardiac arrest and delayed bilateral pallidal lesions on brain MRI

ABSTRACTThe delay between cardiac arrest and brain MRI is usually extremely different in the few cerebral imaging studies assessing the affected brain areas. We report an unusual case of loss of psychic self-activation appeared immediately after a cardiac arrest in a middle age patient. The first brain MRI, one month after the vascular event, did not show the classical lesions typically reported, such as lesion of the caudate nucleus or the globus pallidus. Two years later, although the cognitive performances of our patient were improved, a second brain MRI demonstrated bilateral pallidal lesions, suggesting a possible mechanism with delayed hypoxic lesions.

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin

Fucosidosis is a rare lysosomal storage disease. A 14-year-old girl is presented, with recurrent infections, progressive dystonic movement disorder and mental retardation with onset in early childhood. The clinical picture was also marked by mild morphologic features, but absent dysostosis multiplex and organomegaly. MRI images at 6.5 years of age were reminiscent of pallidal iron deposition (“eye-of-the-tiger” sign) seen in neurodegeneration with brain iron accumulation (NBIA) disorders. Progressively spreading angiokeratoma corporis diffusum led to the correct diagnosis. This case extends the scope of clinical and neuroradiological manifestations of fucosidosis.

Gait abnormalities induced by acquired bilateral pallidal lesions

Bilateral pallidal lesions induce a range of cognitive and motor disorders, principally a parkinsonian syndrome in which severe disturbances of gait and gait initiation are frequently reported. However, the precise clinical features of these disorders (and the role of the pallidum therein) remain to be established. The goal of this study was to characterise gait and gait initiation disorders within the context of a parkinsonian syndrome in patients with acquired, bilateral, pallidal lesions (PAL patients), to compare these disorders to those seen in Parkinson's disease (PD), and to assess the corresponding physiopathological implications. By using a video motion analysis system (VICON), we studied gait kinematic parameters in two patients presenting with bilateral, pallidal lesions. Kinematic and kinetic parameters were also determined during gait initiation. The two patients were compared with a group of 17 PD patients and to 20 healthy controls. In both PAL and PD patients, kinematic parameters (gait and gait initiation) and kinetic parameters (gait initiation) were similarly impaired, evidenced by akinesia (difficulty in initiating gait characterized by impairment of anticipatory postural adjustments). Hypokinesia and bradykinesia (respectively reduced stride length and reduced speed during gait) were also noted. The gait and gait initiation disorders seen in cases of bilateral pallidal lesions (namely akinesia, hypokinesia and bradykinesia) are similar to those observed in PD. Subject to confirmation in more extensive studies, we hypothesize that bipallidal patients may present higher level gait disorders,with potential mediation by cognitive impairment.

Bilaterale Palliduminfarkte bei Schlaf-Apnoe-Syndrom

Patients suffering from sleep apnea syndrome are known to be at higher risk of cardiac and cerebral infarction. In this case report, we describe bilateral pallidal lesions, which are normally seen after sudden asphyxia due to cardiac arrest or carbon monoxide intoxication. Some epidemiological and pathophysiological observations are cited.

Unilateral lesions of the globus pallidus: report of four patients presenting with focal or segmental dystonia

OBJECTIVESTo interpret clinical features after unilateral lesions of the globus pallidus on the basis of physiology of the basal ganglia.METHODSFour patients with unilateral lesions in the globus pallidus (GP) were...

Dystonia and akinesia due to pallidoputaminal lesions after disulfiram intoxication

A case with segmental cranial plus crural dystonia of delayed onset and akinesia after acute intoxication with disulfiram is presented. Computed tomography showed bilateral pallidal lesions, whereas on magnetic resonance imaging additional small lesions of the putamen could be detected. Long-term observation with progression and a change of symptoms over a period of 10 years after the intoxication is demonstrated on videotape. Although other central side effects after intoxication with disulfiram are well known, movement disorders are uncommon. Carbon disulfide, a disulfiram metabolite, may be important in the etiopathogenesis.

Psychic Akinesia following Bilateral Pallidal Lesions

After suffering a carbon monoxide intoxication, a thirty-nine-year-old patient presented a marked behavioral change, with a severe anterograde and retrograde amnesia, extreme placidity, bulimia, and hypersexuality. This picture lasted for twenty days. Placidity and anterograde amnesia persisted, while marked psychic akinesia and abnormal involuntary movements soon appeared. A CT scan disclosed bilateral low density lesions involving the pallidum. The patient showed marked improvement after treatment with bromocriptine.

Sex-dependent survival of rats after bilateral pallidal lesions

The effects of unilateral and bilateral pallidal lesions were studied in male and female rats. While unilateral lesions produced only transient aphagia and adipsia, the results of bilateral lesions were more severe. Sixteen out of 30 rats of the Wistar strain survived the bilateral lesion and the survivors were followed until the 157th day. The majority of survivors were females. The recovery of males was slower than females. All the surviving animals and also some of those which died ate and drank spontaneously. Similar results were obtained in repeated experiment on the CFY strain of rats. Our data suggest that aphagia and adipsia, as well as the considerable weight loss causing the death of animals may be regarded as disorders of two partially independent mechanisms; however, both of them are expressed more in male than female animals.

Dystonia musculorum deformans alleviated by chemopallidothalamectomy and substantia nigralysis. Case report.

Dystonia musculorum deformans, as the name implies, is generally a crippling and progressive neuromuscular disorder. I t results in grotesque postures and finally in permanent skeletal changes, such as rotokyphoscoliosis. I t is primarily a disorder of childhood and adolescence and therefore the more devastating. With the use of chemopallidectomy and chemothalamectomy introduced by Cooper] the majority of such patients can be greatly improved if not cured of their dystonic syndrome. In our 6 cases, 4 patients have been completely relieved and 1 considerably improved, and 1 has received no benefit from surgery. One patient required bilateral thalamic lesions which incidentally were done simultaneously; in a second patient, bilateral pallidal lesions were made at 4 separate operations; in a third, bilateral pallidal and unilateral thalamic lesions were produced in 3 operations; a fourth has had unilateral thalamic lesions on ~ occasions with 75 per cent improvement and soon will have a pallidal lesion made. The fifth patient has been the most difficult to treat, requiring bilateral pallidal and unilateral thalamic lesions done in 6 operations. And, in addition, destruction of the left substantia nigra by a new surgical technique-substantia nigralysis2 This particular case is worthy of detailed review.