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June 14, 2026Brain and Development Case ReportsOpen Access

Pontocerebellar hypoplasia type 7 with multiple congenital anomalies and progressive neurological course: a case report

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Authors

MKMei KamidaniIHItaru HayakawaAIAi Ito-Shinjo

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Overview

Case report describes severe neurological decline in an infant with pontocerebellar hypoplasia, highlighting rare features.

Key Points

  • This report aims to expand the understanding of Pontocerebellar hypoplasia type 7 by detailing a unique case with progressive symptoms.
  • Detailed clinical presentation and longitudinal course of an infant with PCH7.
  • Utilized brain MRI and genetic testing for diagnosis.
  • Monitored clinical outcomes including neurological and systemic functions.
  • Patient exhibited severe feeding difficulties, IESS at 8 months, and died at 18 months due to respiratory failure.
  • Brain MRI indicated pontocerebellar hypoplasia, bilateral ventriculomegaly, and supratentorial atrophy.
  • Additional findings included persistent hypertension and thrombocytosis, marking an atypical progression.

Cite This Study

Kamidani et al. (2026) studied this question.

synapsesocial.com/papers/6a2e45d5b1cc60ccdea8ad2ehttps://doi.org/10.1016/j.bdcasr.2026.100150
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE12024
  2. 2Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort2026
  3. 3Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review2024 · 6 citations
  4. 4OP-066 A mutation leading to rare neurodevelopmental disorder unique to Turkish population2024
  5. 5Pontocerebellar hypoplasia: a review from 1912 to 20222025