The Neuropathology of Hereditary Dystopic Lipidosis

Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

“…Sites of accumulation of glycolipid in nerve cells are indicated in the Table. DISCUSSION The distribution of the lesions in the nervous system in these three cases is similar to that described in previously recorded cases in many respects (Rahman and Lindenberg, 1963;Steward and Hitchcock, 1968). Previously unrecorded are the telangiectasis in vessels of sympathetic ganglia, accumulation of glycolipid in pigmented cells of the substantia nigra and in anterior horn cells of the spinal cord; and degeneration of nerve fibres in the substantia gelatinosa and dorsal root entry zone of the spinal cord.…”

“…In cases 1 and 2 the myenteric plexuses were examined and ganglion cell storage was demonstrated. In case 3 the sympathetic ganglia of the vertebral chain were examined and did not show the neuronal storage which has been recorded by other observers (Rahman and Lindenberg, 1963). They showed, however, gross and widely distributed telangiectases resembling the angiectatic spaces in the skin (Fig.…”

Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease)

“…Corneal dystrophy is a frequent finding. It is also an important clue in detecting the carrier state in females who have no other overt manifestations of the disease (Rahman et al, 1961;Rahman and Lindenberg, 1963;Von Gemmingen et al, 1965), as in our patient's mother who probably transmitted the abnormal gene to her son. The conjunctiveae and ocular fundi show the vascular abnormalties seen in our patient; in some cases the disc edges are blurred, suggesting papilloedema (Spaeth and Frost, 1965).…”

“…Blood-filled lacunae surrounded by hyperkeratotic epidermis have been seen in biopsy specimens of skin (Von Gemmingen et al, 1965;Curry and Fleisher, 1961). Rahman and Lindenberg (1963) demonstrated lipid in many cells in the nervous system, particularly the autonomic nervous system, as well as in small cerebral blood vessels. The renal changes due to deposition of lipid were reported by Colley et al (1958).…”

Angiokeratoma Corporis Diffusum (Fabry's Disease)

“…The disease is progressive, and usually the patient dies of uncontrollable uremia (Fig 12 and 13) as noted in the course of patient 2. Burning pain and paresthesias of the hands and feet appear to be constant early features, the explanation of which is not yet determined ; however, the in¬ volvement of the autonomie nervous system 12,13 and peripheral blood vessels might be a causa¬ tive interpretation. Günther 14 patients.…”