The DAF syndrome

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Abstract
The DAF syndrome is an acronym suggested for a group of patients who present with the prominent signs of down gaze paralysis, ataxia, and foam cells. To the 30 patients reported in the literature under various headings we are adding nine whom we have studied. Characteristic are: onset in the first two decades of life, progression of the down gaze paralysis to involve up gaze and eventually horizontal gaze in a total supranuclear ophthalmoplegia; development of athetosis and spasticity in addition to the ataxia; extensive infiltration of bone marrow, spleen, liver, and other tissues with foam cells; and a variable degree of intellectual impairment. The sphingomyelinase level in white blood cells and in cultured fibroblasts may be decreased or may be normal. The underlying enzymatic defect and the relationship to other forms of the Niemann-Pick and Sea Blue Histiocyte syndromes are uncertain.
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