[Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report]. / Atrofia muscular espinal asociada a hipoplasia olivopontocerebelosa. Informe de un caso.

INTRODUCTION: Spinal muscular atrophy is a frequent neurodegenerative disease in infancy. Nevertheless, its association with olivopontocerebellar hypoplasia is rare. CASE REPORT: We describe a case displaying clinical symptoms that included respiratory failure, dysmorphias, hypotonia, deep tendon areflexia and respiratory complications, like the cases described in the literature. In the genetic study it was not possible to find the motor neuron gene surviving from the infantile muscular atrophy. The neuropathological disorders found in the necropsy study were olivopontocerebellar hypoplasia with intense neuronal loss (fundamentally from Purkinje cells and from the granular layer of the cerebellum, olivary nuclei and pons), replacement gliosis and degeneration of the motor cells in the anterior horn of the spinal cord. Death occurred due to a respiratory complication in the 11th postnatal month. CONCLUSIONS: The paper describes the clinical-pathological study and the genetic study of a female patient who died at the age of 11 months after being diagnosed as presumably suffering from Werdnig-Hoffman disease. The autopsy revealed an olivopontocerebellar hypoplasia, which is a morphological trait that is not associated with the above-mentioned entity. The microscopic study revealed extensive areas of gliosis and neuronal loss. We conclude with the diagnosis of spinal muscular atrophy associated with olivopontocerebellar hypoplasia, which is a rare clinical entity with very few case reports and whose genetic defect is still unknown. We also review the extant literature related to this case.

Postural behaviour responses to visual stimulation in patients with vestibular disorders.

Patients with different vestibular disorders exhibit changes in postural behaviour when they receive visual stimuli, reproducing environmental stimulation. Postural control was studied using an AMTI Accusway platform, measuring the confidential ellipse (CE) and sway velocity (SV). Postural responses were recorded according to the following stimulation paradigm: i) without specific stimuli; ii) smooth pursuit with pure sinusoids of 0.2 Hz (foveal stimulation); and iii) optokinetic stimulation (retinal stimuli). Patients with central vestibular disorders (CVD), cerebellar damage and unilateral peripheral vestibular lesions (UPVL) in asymptomatic periods were studied. A group of normal subjects was studied as control. Signal processing was done with a scalogram by wavelets in order to observe the relation between time and frequency in postural control. While patients with CVD and cerebellar disease showed a significant increase in CE and SV in the three conditions of the paradigm compared to the normal group, the patients with UPVL showed no change. Wavelets processing showed that the main sway occurs in the Y axis (antero-posterior) and below at 0.4 Hz in normal subjects, while the CVD and cerebellar patients showed sway frequencies in both the X and Y axes. The clinical implications of these findings are discussed.

Atrofias olivopontocerebelosas: análisis clínico de 11 casos / Olivopontocerebellar atrophies: clinical analysis of 11 cases

Se presentan 11 pacientes portadores de una atrofia olivo ponto cerebelosa, describiéndose en detalle la sintomatología neurológica y su evolución. Las diversas formas sindromáticas se analizan en relación a los hallazgos de la Tomografía Axial Computada de cerebro, apreciándose que todos nuestros casos tienen evidencia tomográfica de atrofia del vermis cerebeloso, hemisferios cerebelosos y protuberancia, independientemente de la forma sindromática que presentan. Finalmente se comenta la relación de este cuadro con el Síndrome de Shy-Drager y la degeneración striato-nigral.