Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A

20260 citationsJournal Articlehybrid Open Access

Authors

Antonia Herrmann · University Medical Center Freiburg

Alice Kuhn · University Medical Center Freiburg

Maren Hackenberg · University of Freiburg

Julia Matilainen · Deutsche Telekom (Germany)

Simone Mayer · Heidelberg University

Samuel Groeschel · University Children's Hospital Tübingen

Markus Uhl

Abstract

PCH2A presents early with nonspecific symptoms. Prenatal and postnatal ultrasound imaging can fail to detect the condition, with MRI being the gold standard for diagnosis. Over time, the diagnostic process, including genetic confirmation, has become faster.

Topics & Keywords

Fetal and Pediatric Neurological Disorders Spinal Dysraphism and Malformations Craniofacial Disorders and Treatments

UN Sustainable Development Goals

Life below water

Publication Details

Published in: Pediatric Neurology

Volume 178, pp. 186-194

DOI: 10.1016/j.pediatrneurol.2026.02.019

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