Macrocephaly: metabolic and structural causes

Evidence-based neurology checklist on macrocephaly: metabolic and structural causes: Organic acidurias Glutaric aciduria type 1 L-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria Metabolic encephalopathies Lysosomal storage diseases Structural causes

Organic acidurias

  • Glutaric aciduria type 1
  • L-2-hydroxyglutaric aciduria
  • D-2-hydroxyglutaric aciduria 

Metabolic encephalopathies

Lysosomal storage diseases

Structural causes

References

  1. Pavone P, Praticò AD, Rizzo R, et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96:e6814.
  2. Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet A 2008; 146A:2023-2037.
  3. Morava E, Jackson KE, Tsien F, Marble MR. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies. Genet Couns 2004; 15:449-453.
  4. Pineda M, R-Palmero A, Baquero M, et al. Vanishing white matter disease associated with progressive macrocephaly. Neuropediatrics 2008; 39:29-32. 
  5. Strassburg HM. Macrocephaly is not always due to hydrocephalus. J Child Neurol 1989; 4 Suppl:S32-S40.
  6. And 1 more. Subscribe to see the full list

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