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A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
10:02

A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy

Published on: November 3, 2016

Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA)

S M Chou1, E F Gilbert, R W Chun

  • 1Section of Neuropathology, University of Wisconsin-Madison Health Center Sciences 53792.

Clinical Neuropathology
|January 1, 1990
PubMed

Insights

This study details a rare, fatal infantile olivopontocerebellar atrophy (OPCA) in siblings, presenting with severe neurological and physical symptoms. Autopsy revealed brainstem and cerebellum hypoplasia, highlighting the need for early diagnosis and understanding of this rare disease.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Familial infantile olivopontocerebellar atrophy (OPCA) is a rare neurodegenerative disorder.
  • Autosomal recessive inheritance patterns are implicated in some forms of OPCA.

Observation:

  • Three siblings presented with infantile OPCA and lower motoneuron involvement.
  • Clinical features included severe hypotonia, areflexia, failure to thrive, and respiratory insufficiency.
  • Brain autopsy in two siblings showed hypoplasia of the brainstem, neocerebellum, and cerebellar peduncles.

Findings:

  • Multisystem degeneration was observed, affecting phylogenetically new brain structures.
  • Cardiomyopathy and congenital hip dislocation were noted in two siblings.
  • Metabolic screening did not reveal specific enzyme deficiencies; MRI confirmed OPCA diagnosis in one infant.

Implications:

  • Early diagnosis of OPCA is critical due to its heterogeneous nature.
  • Correlating neuropathologic, clinical, genetic, and imaging findings aids in understanding OPCA variants.
  • This case underscores the severe impact of infantile OPCA on affected infants and families.

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