The Neuropathology of Hereditary Dystopic Lipidosis

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Abstract
Introduction Angiokeratoma corporis diffusum universale, formerly designated a dermatological condition, is now recognized as a lipid storage disease.1-3 Recently the term hereditary dystopic lipidosis was introduced to denote the underlying metabolic abnormality.2 The symptomatology of this disease has been reported elsewhere.2,17-25 In brief, the cardinal manifestations of the disease are paroxysmal crises consisting of attacks of fever, burning pains and paresthesia in extremities, and fleeting proteinuria in childhood. A macular and papular erythematous skin eruption heralds the onset of these symptoms in males. In young adults there are few crises, but a mild diabetes insipidus, diminished sweating, and persistent proteinuria are characteristic. Later in life anhidrosis, hypertension, cardiomegaly, and progressive renal insufficiency with uremia are common. Involvement of the nervous system in this disease by lipid storage in ganglion cells was first described by Scriba3 in 1951. He noted swelling of neurons of peripheral autonomic ganglia

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