Severe, non X-linked congenital microcephaly with absence of the pyramidal tracts in two siblings

H. J. Ten Donkelaar, P. Wesseling, B. A. Semmekrot, K. D. Liem, J. Tuerlings, J. R.M. Cruysberg, P. E.J. De Wit

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In two siblings (a female and a male neonate), severe microcephaly, bilateral absence of the pyramids, severe hypoplasia of the cerebral peduncles, and dysplasia of the inferior olives was found together with microphthalmia, facial malformations and multiple contractures of the extremities. In both cases, the cerebral hemispheres otherwise showed a more or less normal gyral pattern with the insula incompletely covered by the opercula, and a torn but otherwise intact corpus callosum. In case 2, congenital cataract was also observed. The present cases can be characterized as a rapidly fatal, familial syndrome, probably transmitted as an autosomal recessive trait, and have several features in common with the Neu-Laxova syndrome. They differ in having a less severe form of microcephaly, a rather normal cytoarchitecture of the cerebral cortex, an apparently normal corpus callosum, no gross cerebellar abnormalities, and no other organ malformations. The present cases belong to a group of heterogeneous syndromes which have microcephaly, ocular and facial malformations, multiple contractures, and ichthyosis-like skin in common.

Original languageEnglish
Pages (from-to)203-211
Number of pages9
JournalActa Neuropathologica
Issue number2
Publication statusPublished - Aug 1999
Externally publishedYes


  • Cataract
  • Inferior olive dysplasia
  • Microcephaly
  • Pyramid absence


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