Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.

OBJECTIVES: Lesch-Nyhan disease (LND) is a hereditary disorder characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The lack of a precise understanding of the neurological dysfunction has precluded the development of useful conservative therapies. We present our experience treating a LND patient by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) with improvement in dystonia symptoms and disappearance of self-injurious behavior. METHODS: We present a 29-year-old patient characterized by generalized severe dystonia and self-injurious behavior, both refractory to conservative treatment. The patient underwent a GPi bilateral electrode implant for chronic stimulation. Symptoms were evaluated with the Burke-Fhan-Marsden Dystonia Rating Scale (BFMDRS) and Mean Disability Scale (MDS) preoperatively and during the five-year follow-up. RESULTS: We observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior. CONCLUSIONS: This case supports the hypothesis that automutilation in LND might be related to dysfunction of the basal ganglia circuits and the idea that bilateral GPi-DBS is a safe and effective treatment modality for this condition.

Behavioral and motor improvement after deep brain stimulation of the globus pallidus externus in a case of Tourette's syndrome.

OBJECTIVES: The objective of our paper is to show the partial decrease of therapeutic effect with battery exhaustion in a previously successfully treated patient with refractory Tourette's syndrome (TS). MATERIALS AND METHODS: We present a 47-year-old patient diagnosed with TS based on the TS Study Group Criteria and Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Surgery was considered based on refractoriness to conservative management. Presurgical evaluation included magnetic resonance imaging (MRI), positron emission tomography scan, and neuropsychologic, neurologic, and psychiatric tests utilizing Yale Brown Obsessive Compulsive Scale, Yale Global Tics Severity Scale, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Global Assessment of Functioning Scale, and Mini-mental State Examination. Target coordinates were obtained from inversion recovery MRI. Quadripolar deep brain stimulation (DBS) electrodes were implanted bilaterally in the globus pallidus externus (GPe) and connected to the pulse generator in the same procedure. To determine the clinical response to DBS, the scores of the scales obtained preoperatively were compared with those obtained postoperatively. RESULTS: No surgical complications were detected and according to the clinical scales the patient experienced a marked improvement of his symptoms, although he never showed obsessive-compulsive disorder components of any type. The battery was exhausted after two years with the subsequent significant partial loss of therapeutic effect. CONCLUSIONS: GPe seems to be a highly promising target of DBS for the treatment of medically refractory TS. After battery exhaustion, the patient experienced a marked partial decrease in the therapeutic effect, which confirms the beneficial action of this method.

La termografía basal como herramienta diagnóstica en el síndrome de dolor regional complejo tipo 2 / Basal thermography as diagnostic tool in the complex regional pain syndrome type 2

Presentamos nuestra experiencia con la termografía para el diagnóstico del síndrome de dolor regional complejo (SDRC) tipo 2 a predominio unilateral. Describimos los resultados en catorce pacientes en los cuales encontramos diferencias significativas de temperatura cuando comparamos el lado afectado con el sano o menos sintomático, con una correlación directa con el tiempo de evolución. Nuestros hallazgos muestran que la termografía puede ser un método útil para el diagnóstico del SDRC tipo 2 con un tiempo de evolución prolongado.

We present our experience with thermography for diagnosis of Complex Regional Pain Syndrome (CRPS) type II with unilateral predominance. We describe the results in fourteen patients, in which we found significant differences when comparing the sick side with the healthy or less affected one, with parallel increases with disease’s time of evolution. Our findings show that thermography can be a useful diagnostic method for long - term evolution Complex Regional Pain Syndrome type 2.

New animal model to mimic spastic cerebral palsy: the brain-damaged pig preparation.

Objective. Classically, a decerebrated animal by mesencephalic lesioning is considered the paradigm for experimental study of spasticity that accompanies cerebral palsy, but, the model does not actually correspond with anatomical and pathologic realities. Therefore, a new and novel animal model is needed. Our objective was to create a more adapted animal model to be used in neuromodulation and functional electrical stimulation research. Materials and Methods. Our new model in pigs closely simulates cortical and subcortical lesions produced by perinatal anoxic brain damage, which is present in spastic cerebral palsy and other spastic conditions. Our surgical lesions were produced by means of resecting the rolandic and perirolandic areas (cortical lesion) and aspiration and coagulation of white matter and deep gray nuclei. This model results in anatomic and pathologic configurations that are similar to human spastic cerebral palsy. We physiologically tested our model both in the pre- and postoperative situations. After experimental stimulation in nonoperated animals to establish mean latencies for preoperative bilateral cervical motor-evoked potentials and to confirm the absence of abnormally propagated electromyographic activity, another group of animals were retested using the same experimental variables before and after creation of the surgical lesioning in cortical and subcortical pyramidal areas. Results. Normal latencies and no propagated electromyographic responses were found in sham animals. There were significant differences found in both latencies for motor-evoked potentials and electromyographic propagated responses when compared to pre- and postoperative values, which signaled abnormal physiology. Conclusions. This animal model presents anatomic similarities to lesions currently present in cerebral palsy and related diseases. The model also shows electrophysiologic differences that signal chronic brain damage. Therefore, this method is useful in research when spastic syndromes produced by upper motor lesions need to be modeled.

Lateral cord stimulation decreases spastic electromyographic spreading: responses in a brain-damaged pig preparation.

Objective. The aim of our work was to investigate whether lateral stimulation of the spinal cord, lateral cord stimulation (LCS), results in inhibition of the spastic phenomena of upper motor lesions in an animal model. Methods. This study was conducted using an animal model consisting of surgically brain damaged pigs subjected to unilateral cortical and subcortical brain lesions. A double laminectomy at cervical (C3-C4) and lumbar (L3-L6) was performed, and spastic thresholds of abnormal electromyographic responses, disseminated to adjacent segments, facilitated by spinal liberation, and produced by extradural electrical stimulation of the fourth lumbar root, were measured before and after cervical stimulation of the LCS. The variable studied was the minimal amount of current of LCS necessary to abolish electromyographic responses in the L7 myotome, away from the stimulated L4 nerve root. Results. Experiments in 12 animals showed a significant increase of threshold after LCS, with a marked posteffect, signaling a less abnormal threshold. Conclusions. This experiment demonstrated that LCS produces threshold increases to abolish abnormally propagated electromyographic evoked responses induced by the electrical stimulation of the fourth lumbar root in pigs with experimental cortical and subcortical brain lesions.