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.

Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation : typical MRI appearances and pearls for differential diagnosis / E. Scola, M. Ganau, R. Robinson, M. Cleary, L.J.L. De Cocker, K. Mankad, F. Triulzi, F. D'Arco. - In: QUANTITATIVE IMAGING IN MEDICINE AND SURGERY. - ISSN 2223-4292. - 9:12(2019), pp. 1966-1972. [10.21037/qims.2019.08.12]

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

F. Triulzi;
2019

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.
AMPD2 mutations; Magnetic resonance imaging (MRI); Pediatric posterior fossa; Pontocerebellar hypoplasia type 9 (PCH9)
Settore MED/37 - Neuroradiologia
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/821487
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