[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].
We observed a combination of nephronophthisis, tapetoretinal degeneration, vermian agenesis and encephalopathy in three first cousins. Juvenile nephronophthisis, the main inherited renal disease of childhood, is occasionally associated with a genetically linked disease involving the eyes and/or bone and/or liver and/or nervous system. We have assembled approximately one hundred cases of complex nephronophthisis. We discuss the various associations, among which the Senior syndrome (nephronophthisis + tapetoretinal degeneration) is the most frequent. The familial combination seen in our patients has apparently not been previously reported and seems to represent a new expression of the disease.
Marchal
J L
JL
Hehunstre
J P
JP
Deminière
C
C
Guérin
J
J
Romanet
P
P
D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D012162:Retinal Degeneration / Q000150:complications / Q000235:genetics*; D013577:Syndrome
Néphronophtise, dégénérescence tapéto-rétinienne, encéphalopathie et agénésie vermienne: une nouvelle association. A propos de trois cas familiaux.