A case of XXXX : diagnosed with dysmorphological and radiological findings.

@entity2315 @entity1 @entity19438 @entity851 @entity19637 @entity245 @entity3953 @entity15967 @entity717 @entity85 @entity922
@entity19438 is a rare @entity2315 in which @entity3953 -containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of a-L-fucosidase. In this report we describe clinical, dysmorphological and radiological findings of a @entity1 with this disorder. @entity245 , @entity85 and mild coarsening of the face began at two years of age. Clinical signs typical for @entity19438 evolved over time. Psychomotor deterioration progressed slowly. At age 12, he could not walk without help; he was admitted to the hospital with @entity717 , @entity851 and coarse facial features. A skeletal survey showed @entity19637 . Cranial MRI demonstrated high intensities on the periventricular white matter and low intensities on the basal ganglia on T2- weighted images. Despite the absence of @entity15967 on the skin, @entity922 was suspected. The diagnosis was established on the basis of severely decreased activity of a-L-fucosidase in the leukocytes. The natural history and specific dysmorphic and radiological findings should, even in the absence of @entity15967 , assist in the differential diagnosis of this rare condition when @entity2315 are suspected, particularly in populations in which consanguineous marriages are common.
