XXXX : new leads for an earlier diagnosis.

@entity1 @entity7960 @entity26289 @entity2383 @entity26282 @entity55 @entity16 @entity245 @entity6391 @entity1897 @entity179 @entity1576 @entity164 @entity2057 @entity204 @entity15619 @entity2055 @entity306
@entity26289 is a rare disease characterized by @entity26282 and anterior horn cell degeneration. The oldest reported @entity1 died at the age of 26 months. Two siblings were diagnosed with @entity26289 after the @entity204 of the second sibling at 40 months of age from @entity1576 and the unexpected finding of anterior horn cell degeneration on her autopsy. The older sibling was a @entity1 who was labeled as having @entity306 . He died at 14 months of age from @entity55 following a clinical course similar to his sister's, who was born 5 years after his @entity204 . Both siblings had significant @entity245 with axial and @entity1897 initially. @entity1897 with brisk reflexes developed later but were absent prior to @entity204 . Extensive investigations in the second sibling ruled out known metabolic (including @entity15619 ) and @entity2383 using skin fibroblast cultures and enzyme analysis. Genetic testing for @entity7960 ; @entity16 , @entity2055 , and @entity6391 (NARP); @entity2057 ; and @entity164 , 2, 3, 6, 7, and 8 gene abnormalities was negative. The elecroretinogram showed a previously unreported finding of abnormal and progressive rod/cone response. Our cases provide clinical and previously unreported electroretinographic evidence for @entity179 in @entity26289 and call for the expansion of the disease phenotype.
