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Motor Neuron Degeneration in a 20-Week Male Fetus: Spinal Muscular Atrophy Type 0

Published online by Cambridge University Press:  02 December 2014

Harvey B. Sarnat  and
Cynthia L. Trevenen
Harvey B. Sarnat
Affiliation:
Departments of Paediatrics, Pathology, University of Calgary, Medicine and Alberta Children's Hospital, Calgary, Alberta, Canada
Cynthia L. Trevenen
Affiliation:
Departments of Pathology, University of Calgary, Medicine and Alberta Children's Hospital, Calgary, Alberta, Canada
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Abstract

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Background:

Neuropathological changes in degenerating motor neurons are well documented in the term neonate with spinal muscular atrophy, but not at midgestation.

Methods:

Postmortem neuropathological examination was performed in a 20-week male fetus with a hypoplastic left cardiac anomaly.

Results:

Selective degeneration of spinal and hypoglossal motor neurons was an incidental finding. Degenerating motor neurons were not immunoreactive with neuronal nuclear antigen (NeuN) or neuron-specific enolase (NSE), as were the normal motor neurons. Synaptophysin reactivity was reduced around the soma of degenerating normal motor neurons. Ubiquitin and tau were expressed in degenerating motor neurons. Gliosis, inflammation and microglial activation were lacking in the ventral horns of the spinal cord. Laryngeal striated muscle was unaltered for age. No cerebral malformations or hypoxic-ischaemic changes were found.

Conclusion:

This case represents an early motor neuronal degeneration and corresponds to the recently described “type 0” spinal muscular atrophy. Lack of contractures is attributed to the early fetal age, since most muscular growth occurs in the second half of gestation.

Résumé:

RÉSUMÉ:Introduction:

Les alterations des neurons moteurs dégénératifs dans le nouveauné à terme sont bien documentés, mais pas en la gestation moyenne.

Méthodes:

On a realisé l'examination neuropathologique postmortem dans un foetus masculin de 20 semaines qui avait le syndrome d'hypoplasie du coeur gauche.

Résultats:

Nous avons trouvé une dégénération selective des neurons moteurs comme trouvaille fortuite. Los neurones moteurs dégénératifs ne sont pas inmunoréactifs avec l'antigen neuronale nucleaire (NeuN) ou l'enolase spécifique aux neurones, bien que les neurones moteurs bien conserves montrant ces reactivités. La synaptophysine est moins reactif au cours des neurones dégénératifs que dans les neurones moteurs normaux. L'expression d'ubiquitine et de tau aussi se trouve. Il n'y a pas du gliose, d'inflammation ou d'activation microgliale. Le muscle estrié paralaryngeal est normale a cette âgé. Les malformations cérébrales et les alterations hypoxiquesischémiques son absents.

Conclusion:

On propose que ce cas réprésent le changement pathologique plus tôt dans les neurones moteurs de l'atrophie spinale musculaire et corresponde au «type 0» recentement décrit. L'absence de contractures s'attribue a l'áge jeune foetaux puisque le croissement plus rapide du muscle a lieu dans la seconde moitié de gestation.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 34 , Issue 2 , May 2007 , pp. 215 - 220
Copyright
Copyright © The Canadian Journal of Neurological 2007

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