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A Case of Bilateral Renal Dysplasia with Dandy‐Walker Syndrome and Tapetoretinal Degeneration
Author(s) -
Tsuru Noboru,
Mitsudome Akihisa,
Oda Teiichi
Publication year - 1983
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1983.tb00588.x
Subject(s) - medicine , dandy–walker syndrome , autopsy , degeneration (medical) , dysplasia , blindness , nephronophthisis , renal dysplasia , kidney , surgery , pathology , hydrocephalus , biochemistry , chemistry , optometry , gene , phenotype
We treated a 5 year and 9 month old Japanese boy, with symptoms of congenital blindness due to tapetoretinal degeneration and Dandy‐Walker syndrome who died of renal insufficiency. The autopsy findings of the kidney revealed bilateral dysplasia with cysts. These findings were compared to similar abnormalities occurring simultaneously in the eye, brain and kidney (oculocerebro‐renal syndrome) which has been considered as a new syndrome. Among the case reports of this syndrome, we are the first to describe the case with Dandy‐Walker syndrome.