Yunis-Varon syndrome: Evidence for a lysosomal storage disease

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