Neurometabolic diseases of childhood

Zoltan Patay, Susan I. Blaser, Andrea Poretti, Thierry A.G.M. Huisman

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Metabolic diseases affecting the pediatric brain are complex conditions, the underlying mechanisms leading to structural damage are diverse and the diagnostic imaging manifestations are often non-specific; hence early, sensitive and specific diagnosis can be challenging for the radiologist. However, misdiagnosis or a delayed diagnosis can result in a devastating, irreversible injury to the developing brain. Based upon the inborn error, neurometabolic diseases can be subdivided in various groups depending on the predominantly involved tissue (e.g., white matter in leukodystrophies or leukoencephalopathies), the involved metabolic processes (e.g., organic acidurias and aminoacidopathies) and primary age of the child at presentation (e.g., neurometabolic disorders of the newborn). This manuscript summarizes these topics.

Original languageEnglish (US)
Pages (from-to)473-484
Number of pages12
JournalPediatric radiology
StatePublished - Sep 13 2015


  • Child
  • Magnetic resonance imaging
  • Neurometabolic disorders
  • White matter disorders

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging


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