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


ABSTRACT: 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 (MRI) findings consisting in: pontine hypoplasia or atrophy with dragonfly cerebellar atrophy appearance on coronal images, reduction in size of the pons and middle cerebellar peduncles, abnormal midbrain describing a figure of "8" on axial images, diffuse loss of cerebral white matter with striking periventricular leukomalacia (PVL), and absence or extreme thinning of the corpus callosum. A review of the literature on PCH9 shows that the MRI phenotype observed in the series herein presented is similar to the eleven cases of PCH9 previously reported. Finally, the main radiological elements which differentiate this diagnosis from other PCH subtypes are described.

SUBMITTER: Scola E 

PROVIDER: S-EPMC6942969 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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

Scola Elisa E   Ganau Mario M   Robinson Robert R   Cleary Maureen M   De Cocker Laurens J L LJL   Mankad Kshitij K   Triulzi Fabio F   D'Arco Felice F  

Quantitative imaging in medicine and surgery 20191201 12


Pontocerebellar hypoplasia type 9 (PCH9) is a rare autosomal recessive neurodegenerative disorder with prenatal onset caused by mutations in adenosine monophosphate deaminase 2 (<i>AMPD2</i>). PCH9 patients demonstrate severe neurodevelopmental delay with early onset and typical magnetic resonance imaging (MRI) findings consisting in: pontine hypoplasia or atrophy with dragonfly cerebellar atrophy appearance on coronal images, reduction in size of the pons and middle cerebellar peduncles, abnorm  ...[more]

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