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.