Acta Neuropathologica

, Volume 36, Issue 4, pp 315–325 | Cite as

Cerebral malformation associated with metabolic disorder

A report of 2 cases
  • Magda Erdohazi
  • N. D. Barnes
  • M. J. Robinson
  • B. D. Lake
Original Investigations


A clinical and neuropathological study is presented of two cases each of which showed neuronal heterotopia. Microgyria was also present in one case. One patient was suffering from a degenerative disorder affecting the white matter. The other was a case of Menkes' disease. It is suggested that the antenatal damage may have been caused by an imbalance of the maternal metabolism, the predisposing factor being the mother's carrier state for a metabolic defect. This is the first report of teratogenesis in a case of Menkes' disease. It is also noted that in this case there is interference with the postnatal as well as the antenatal development of the brain.

Key words

Metabolic disorder Maternal metabolism Menkes' disease Teratogenesis Microgyria Neuronal heterotopia 


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Copyright information

© Springer-Verlag 1976

Authors and Affiliations

  • Magda Erdohazi
    • 1
  • N. D. Barnes
    • 1
  • M. J. Robinson
    • 1
  • B. D. Lake
    • 1
  1. 1.The Hospital for Sick ChildrenLondonEngland

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