Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis

Pontocerebellar hypoplasia type 9 (PCH9) is a rare autosomal recessive neurodegenerative disorder with prenatal onset caused by mutations in adenosine monophosphate deaminase 2 (AMPD2). PCH9 patients demonstrate severe neurodevelopmental delay with early onset and typical magnetic resonance imaging...

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Bibliographische Detailangaben
Veröffentlicht in:Quant Imaging Med Surg
Hauptverfasser: Scola, Elisa, Ganau, Mario, Robinson, Robert, Cleary, Maureen, De Cocker, Laurens J. L., Mankad, Kshitij, Triulzi, Fabio, D’Arco, Felice
Format: Artigo
Sprache:Inglês
Veröffentlicht: AME Publishing Company 2019
Schlagworte:
Short Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6942969/
https://ncbi.nlm.nih.gov/pubmed/31929969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/qims.2019.08.12
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