Yunis-Varon syndrome: evidence for a lysosomal storage disease.

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.

• Authors: E Walch, M Schmidt, R E Brenner, D Emons, C Dame, B Pontz, O D Wiestler, P Bartmann
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 95 Issue 2 Pg. 157-60 (Nov 13 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11078567 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Chemical References

• Carbohydrates
• Neuraminic Acids
• Oligosaccharides

Topics

• Abnormalities, Multiple (diagnosis)
• Autopsy
• Bone and Bones (abnormalities)
• Brain (abnormalities, ultrastructure)
• Carbohydrates (urine)
• Chromatography, Thin Layer
• Dandy-Walker Syndrome (diagnosis)
• Fatal Outcome
• Female
• Hand Deformities, Congenital (diagnosis)
• Humans
• Hydrocephalus (diagnosis)
• Hypertension (diagnosis)
• Infant
• Lysosomal Storage Diseases (diagnosis, urine)
• Microcephaly (diagnosis)
• Microscopy, Electron
• Neuraminic Acids (urine)
• Neurons (cytology)
• Oligosaccharides (urine)
• Syndrome