[Spinal muscular atrophy associated with olivopontocerebellar hypoplasia. A case report].
BACKGROUND
Spinal muscular atrophy is a frequent neurodegenerative disease in infancy. Nevertheless, its association with olivopontocerebellar hypoplasia is rare.


METHODS
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.
Serra-Ortega
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Departamento de Anatomía Patológica, Hospital Pediátrico Docente Juan Manuel Márquez, Facultad de Medicina Finlay-Albarrán, Marianao, Ciudad de La Habana, Cuba. alain.serra@infomed.sld.cu
Torres
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Segreo
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D000015:Abnormalities, Multiple; D001344:Autopsy; D002540:Cerebral Cortex / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007234:Infant, Premature; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D011247:Pregnancy; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology