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

Elisa Scola, Mario Ganau, Robert Robinson, Maureen Cleary, Laurens J.L. De Cocker, Kshitij Mankad, Fabio Triulzi, Felice D'Arco

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1966-1972
Number of pages7
JournalQuantitative Imaging in Medicine and Surgery
Volume9
Issue number12
DOIs
Publication statusPublished - Jan 1 2019

Keywords

  • AMPD2 mutations
  • Magnetic resonance imaging (MRI)
  • Pediatric posterior fossa
  • Pontocerebellar hypoplasia type 9 (PCH9)

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

Fingerprint Dive into the research topics of 'Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to AMPD2 mutation: Typical MRI appearances and pearls for differential diagnosis'. Together they form a unique fingerprint.

  • Cite this