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Early neurological complications in children with classical galactosemia and p.gln188arg mutation

Nezir Özgün1, Muhittin Celik2, Osman Akdeniz3

  • 1M.D. Specialist in Pediatric Neurology, Department of Pediatrics, Division of Pediatric Neurology, Diyarbakir Children's Hospital, Diyarbakir, Turkey.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience
|July 24, 2019
PubMed

Insights

Children with classical galactosemia (CG) often experience developmental delays, particularly in language, and may show brain abnormalities on MRI, even with early dietary treatment. These findings highlight the importance of ongoing monitoring for cognitive and neurological issues in affected children.

Area of Science:

  • Pediatric Neurology
  • Metabolic Disorders
  • Developmental Pediatrics

Background:

  • Children with classical galactosemia (CG) face developmental and cognitive challenges despite dietary management.
  • Early intervention and monitoring are crucial for managing CG-related complications.

Purpose of the Study:

  • To investigate the early developmental status of children with CG.
  • To analyze neurological and neuroradiological findings in young CG patients.

Main Methods:

  • Retrospective evaluation of 46 CG patients (2003-2017) with p.gln188arg mutation.
  • Inclusion criteria: detailed neurological exam, brain MRI, and Denver II developmental testing.
  • Analysis of developmental delay and brain MRI abnormalities.

Main Results:

  • Developmental delay (≥20% below chronological age) occurred in 21 of 46 patients, primarily affecting language development.
  • Brain MRI abnormalities were present in 22 patients.
  • Mean age at examination was ~48 months, and at Denver II testing was ~34 months.

Conclusions:

  • Developmental delays and brain MRI abnormalities can manifest early in children with CG, despite adherence to a controlled diet.
  • This study emphasizes the need for early and continuous neurodevelopmental assessment in CG patients.
Abstract

Keywords:
DevelopmentGalactosemiaMagnetic resonance imagingNeurological complications

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