Twelve @entity1 with early infancy onset @entity4651 and @entity8431 with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized @entity8431 were reviewed. Five were affected siblings, and all @entity1 had consanguineous parents. @entity4651 , a slowly progressive delay in motor development and mild @entity1032 constitute the clinical triad of the disease, showing characteristic age-related onset. The clinical findings outlined remarkably slight functional deterioration despite severe lesions on magnetic resonance imaging (MRI), especially in the initial period. Characteristically, mental function is preserved for years after onset of the @entity51 . The MRI lesions do not reflect the progress of disease. The disease probably has an autosomal recessive mode of inheritance even though no metabolic defect has been detected to date. In a more severe variant of the mentioned disease, there is more progressive and severe @entity51 , including ataxia and @entity508 , leading to an inability to walk independently after 10 years of age. In mild variants, however, disease severity varies from @entity4651 with near-normal pyschomotor development to mild motor and/or @entity409 . @entity410 were observed in both types but response to drugs was good. The 12 @entity1 reported here confirm the specific and distinguishing clinical and radiological features of the previously reported 51 cases with this new syndrome, while adding some information regarding identification of the disease.

XXXX and @entity8431 with mild clinical course: a report on 12 new cases.

@entity1 :: ('9606', 'Species') :: ['patients'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental deterioration'] @entity410 :: ('MESH:D012640', 'Disease') :: ['Seizures'] @entity508 :: ('MESH:D009128', 'Disease') :: ['spastic quadriparesis'] @entity409 :: ('MESH:D008107', 'Disease') :: ['mental dysfunction'] @entity51 :: ('MESH:D009461', 'Disease') :: ['neurological dysfunction', 'motor deficit'] @entity8431 :: ('MESH:D007966', 'Disease') :: ['familial leukodystrophy syndrome', 'leukodystrophy'] @entity4651 :: ('MESH:D058627', 'Disease') :: ['Macrocephaly', 'megalencephaly', 'macrocephaly']
@entity4651 :: (MESH:D058627,Disease) :: ['Megalencephaly']
