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Brain morphometry and psychomotor development in children with PCH2A.

Pablo Pretzel1, Antonia Herrmann2, Alice Kuhn2

  • 1Experimental Pediatric Neuroimaging, Department of Child Neurology and Department of Neuroradiology, University Hospital, Tübingen, Germany; Department of Diagnostic and Interventional Neuroradiology, School of Medicine and Health, TUM Klinikum Rechts der Isar, Technical Universtiy of Munich, Germany.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|May 1, 2025
PubMed
Summary

Pontocerebellar hypoplasia type 2A (PCH2A) causes severe developmental delays. Brain imaging reveals limited cerebellar growth and progressive cerebral atrophy, but psychomotor development, while impaired, rarely regresses.

Keywords:
Delayed psychomotor developmentDevelopmental phenotypeLong-term brain morphometryPontocerebellar hypoplasia type 2AProgressive microcephaly

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Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Neuroradiology

Background:

  • Pontocerebellar hypoplasia type 2A (PCH2A) is a rare, severe neurogenetic disorder.
  • Characterized by significant cognitive and motor impairments.

Purpose of the Study:

  • To investigate brain morphometry in PCH2A patients using MRI.
  • To correlate brain development with psychomotor development in affected children.

Main Methods:

  • Analysis of 78 cerebral MRI datasets from 57 genetically confirmed PCH2A patients.
  • Volumetric and in-plane measurements of cerebellum, neocortex, and pons.
  • Calculation of Evans index and caregiver-reported psychomotor development surveys.

Main Results:

  • Markedly reduced cerebellar volume at birth with limited growth, especially cranio-caudally.
  • Progressive microcephaly and increasing Evans index indicating cerebral atrophy.
  • Severe psychomotor impairments observed, with rare developmental regression.

Conclusions:

  • PCH2A is associated with restricted cerebellar growth and progressive cerebral atrophy.
  • Cerebellar volume stabilizes post-infancy, while supratentorial structures show atrophy.
  • Significant psychomotor deficits are present, but regression is uncommon.