Shah-Waardenburg syndrome and Dandy-Walker malformation: an autopsy report

Autopsy reports of individuals with Shah-Waardenburg syndrome are rare, and to the best of our knowledge, have never been reported in association with Dandy-Walker malformation. This report documents the autopsy findings of a 2.5-year-old boy with Shah-Waardenburg syndrome (Type IV Waardenburg syndrome) and a Dandy-Walker malformation. The patient had a past medical history of congenital deafness, skin and hair pigmentary disturbances, Hirschsprun disease and hydrocephalus. At autopsy, multiple patches of dermal and hair hypopigmentation were observed over the face, trunk, eyelashes and eyebrows. The brain had a small, underdeveloped anterior cerebellar vermis, bilateral atrophic cerebelli, a markedly dilated ventricular system and a large incomplete midline cerebellar cyst. The entire colon and much of the small bowel had been previously excised secondary to the Hirschsprung disease. This case expands the spectrum of pathologic findings in Shah-Waardenburg syndrome to include the Dandy-Walker malformation.