Neurometabolic disorders and congenital malformations of the central nervous system

Neurosciences (Riyadh). 2018 Apr;23(2):97-103. doi: 10.17712/nsj.2018.2.20170481.


Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways. The anomalies observed include absent or hypoplastic corpus callosum, midline brain defects, and malformations of the cortex, the cerebellum and the brain stem. Early diagnosis of an underlying inherited neurometabolic disorders is critical for the institution of treatment, which may positively influence prognosis, and allow for proper genetic counseling. In this review, we discuss those disorders in which the structural brain malformation is a dominant feature, and propose a practical approach that will permit a physician to investigate, and treat these disorders.

Publication types

  • Review

MeSH terms

  • Brain / diagnostic imaging
  • Brain / pathology
  • Humans
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / epidemiology
  • Metabolism, Inborn Errors / therapy
  • Nervous System Malformations / complications
  • Nervous System Malformations / diagnosis*
  • Nervous System Malformations / therapy