[Pigmented XXXX as a presenting sign of @entity17903 without external @entity4610 ].

@entity1 @entity713 @entity3914 @entity2117 @entity2055 @entity17903 @entity4610 @entity400 @entity389 @entity989 @entity1319
BACKGROUND: @entity17903 result from deletions in the nuclear or mitochondrial (mt) DNA. Deletions in the mtDNA are often sporadic. Mitochondriopathies are commonly associated with @entity3914 ( @entity3914 ). Here we describe a @entity1 with a structural mtDNA aberration whose presenting sign was impaired visual acuity in the presence of a pigmented @entity989 but lack of @entity1319 . @entity1 : A 7-year-old @entity1 presented with impaired visual acuity (0.4 OD and 0.5 OS), coarse @entity2117 of the posterior pole and @entity2117 with irregular depigmentation in the periphery. Scotopic and photopic as well as multifocal ERG were abnormal. Further symptoms included an incomplete @entity389 , @entity2055 , lapses of coordination and an intention @entity400 . Compared with her twin sister, the @entity1 's speech was less modulated and slower. MRI scanning disclosed symmetric changes of density in the basal ganglia and nucleus dentatus as well as in the brainstem. ECG yielded no evidence of an @entity713 . Molecular biological analysis showed a structural rearrangement of the mtDNA. CONCLUSIONS: @entity17903 in early ages may present with pronounced retinal changes in the absence of external @entity4610 .Therefore, it appears prudent to include a neuropediatric evaluation as well as a mutation screening of the mtDNA in the evaluation of pediatric @entity1 with diffuse non-specific @entity989 .
