Neuropediatrics 2002; 33(2): 57-62
DOI: 10.1055/s-2002-32363
Original Article

Georg Thieme Verlag Stuttgart · New York

“Vanishing White Matter” and Ovarian Dysgenesis in an Infant with Cerebro-Oculo-Facio-Skeletal Phenotype

E. Boltshauser1 , P. G. Barth2 , D. Troost2 , E. Martin1 , T. Stallmach3
  • 1 University Children's Hospital Zurich, Switzerland
  • 2 Emma Children's Hospital/AMC Amsterdam, The Netherlands
  • 3 Department of Pathology, University Hospital Zurich, Switzerland
Further Information

Publication History

Publication Date:
20 June 2002 (online)


We describe a girl with intrauterine growth retardation, congenital cataracts, mild dysmorphic features and joint contractures. MRI performed at 1 week and 6 months, demonstrated postnatal cerebral and cerebellar atrophy and loss of white matter. The patient died at 10 months. Post-mortem examination revealed ovarian dysgenesis. There was normal development of neuronal and axonal structures, but lack of myelination in brainstem and cerebellum. Subcortical and deep white matter of the cerebral hemispheres were largely destroyed (cavitated), with preserved, but unmyelinated axons in other brain areas. These findings are compatible with a severe leukodystrophic process of pre- or perinatal onset. The exact pathogenesis is not known.


Prof. Eugen Boltshauser M. D.

University Children's Hospital

Steinwiesstraße 75

8032 Zurich