Dermatoleukodystrophy
Incidence
It is a very rare disorder that seems to be autosomal recessive.
Clinical Characteristics
Children are born with thickened wrinkled skin and die on the third year of life with progressive cerebral disease characterized by generalized mental and motor impairment. The ears, nose, hands and feet appear disproportionately large. There is striking thickening, wrinkling and creasing in the skin in generalized fashion, giving the face the appearance of an aged person. Postmortem neuropathological studies show a remarkable leukodystrophy with multiple axonal spheroids as the outstanding feature. At the EM, the spheroids contain granules resembling ceroid lipofuscin bodies. Similar granules are found in degenerating oligodendrocytes and in Schwann cells. The skin shows hypercellularity and sclerosis. No treatment is available.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
Clinical characteristics and CT findings. Pathologically, there are multiple axonal spheroids as the outstanding feature. At the EM, the spheroids contain granules resembling ceroid lipofuscin bodies. Similar granules are found in degenerating oligodendrocytes and in Schwann cells.