Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy.

@article{Sarnat2002AgenesisOT,
  title={Agenesis of the mesencephalon and metencephalon with cerebellar hypoplasia: putative mutation in the EN2 gene--report of 2 cases in early infancy.},
  author={Harvey B. Sarnat and Denis R. Benjamin and Joseph R. Siebert and Gad B. Kletter and Sarah N R Cheyette},
  journal={Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society},
  year={2002},
  volume={5 1},
  pages={
          54-68
        }
}
Congenital absence of the midbrain and upper pons is a rare human malformation. We describe two unrelated infants with this anomaly and cerebellar hypoplasia who were born at term but died in early infancy from lack of central respiratory drive. MRI in both cases disclosed the lesions during life. Neuropathological examination, performed in one, included immunocytochemical studies of NeuN, synaptophysin, vimentin, and glial fibrillary acidic protein (GFAP). Autopsy revealed a thin midline cord… CONTINUE READING
Highly Cited
This paper has 28 citations. REVIEW CITATIONS

Citations

Publications citing this paper.
Showing 1-10 of 18 extracted citations

Disorders of segmentation of the neural tube: agenesis of selective neuromeres.

Handbook of clinical neurology • 2008
View 6 Excerpts
Highly Influenced