Coffin-Siris syndrome. Neuropathologic findings
W. A. DeBassio, T. L. Kemper and J. E. Knoefel
We studied the neuropathologic features of a patient with Coffin-Siris
syndrome. Two previously reported cases showed Dandy-Walker (D-W)
malformations. In the present case there was no evidence of D-W
malformation; instead there were hindbrain abnormalities of inferior and
medial accessory olives, large arcuate nuclei, heterotopic olivary nuclei,
and heterotopic nuclei in the white matter of the cerebellum. Although the
hindbrain abnormalities in this case are different from those previously
reported, they all have in common an intimate developmental relationship
with the same embryological areas. This study suggests that the
Coffin-Siris syndrome is a neurocutaneous disorder with hindbrain
abnormalities in cerebellum and brain stem.
