Open AccessNeuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: typical MRI appearances and pearls for differential diagnosis
Author(s) -
Elisa Scola,
Mario Ganau,
Robert Robinson,
Maureen Cleary,
Laurens J L De Cocker,
Kshitij Mankad,
Fabio Triulzi,
Felice D’Arco
Publication year - 2019
Publication title -
quantitative imaging in medicine and surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.766
H-Index - 21
eISSN - 2223-4292
pISSN - 2223-4306
DOI - 10.21037/qims.2019.08.12
Subject(s) - pons , corpus callosum , pathology , hypoplasia , medicine , magnetic resonance imaging , atrophy , differential diagnosis , cerebellar hypoplasia (non human) , periventricular leukomalacia , anatomy , cerebellum , radiology , biology , gestational age , pregnancy , genetics
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.