Yunis-Varon syndrome: Evidence for a lysosomal storage disease

Elisabeth Walch, Matthias Schmidt, Rolf E. Brenner, Dieter Emons, Christof Dame, Bertram Pontz, Ottmar D. Wiestler, Peter Bartmann

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were not reported previously in YVS. The infant excreted an abnormal unidentified oligosaccharide. The patient died at day 108 with severe neurological impairment. Autopsy showed prominent intraneuronal inclusions with vacuolar degeneration, mainly in the thalamic, dentate nuclei, cerebellar cortex, and inferior olivary nuclei. No storage phenomena were observed in other tissues. These findings strongly suggest that a lysosomal storage disorder is involved in the pathogenesis of Yunis-Varon syndrome. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)157-160
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume95
Issue number2
DOIs
StatePublished - 13 Nov 2000
Externally publishedYes

Keywords

  • Bone dysplasia
  • Cleidocranial dysplasia
  • Dandy-Walker malformation
  • Distal aphalangia
  • Osteochondrodysplasia
  • Storage disease

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