Diffuse progressive metachromatic leucoencephalopathy

Abstract

Andrews a d the Royal Xnflrmury, D u d e (PLATES CXCI-CXCV)DIFFUSE progressive metachromatic leucoencephalopathy is a primary demyelinating disease. The term was coined by Einarson and Nee1 (1938) for that form of m u s e cerebral sclerosis in which the demyelinath g process is accompanied by the abundant accumulation of a peculiar material staining metachromatically with basic aniline dyes. This material is found in the central nervous system, both within neurones, phagocytes and glial cells and lying free. It may also occur outside the nervous system, a fact which has led various authors to suggest that diffuse progressive metachromatic leucoencephalopathy is a form of lipoidosis. This view is supported by Norman (1947), who reports the only other British case, but it is doubtful if the abnormal material, which I believe to be a glycolipid, can have its origin better explained than by the postulation of a primary upset of the oligoden droglia . CASE REPORT Clinical historyThe patient, a boy of 3& years, was admitted to Dundee Royal ?hflrmary for the second time on 16/11/48 and died on 18/11/48. He was a full-term child, born normally of a healthy mother. Development was slow; he sat up at 8 months, cut his first tooth at 9 months and made no attempt to walk until 30 months. Thereafter his physical progress retrogressed.On 17/7/48, when aged 38 months, he was admitted to Dundee Royal Infirmay because of his inability to walk properly. Relevant lklinga on admission were extensor plantar responses, ankle clonus, exaggerated tendon reflexes in the legs and severe gross tremor of the arms. The cerebro-spinel fluid showed no increase of cells or protein. It gave a normal Lange and a negative Wassermann reaction. In hospital his condition improved somewhat and he became less spastic. He was discharged after one week and referred to the orthopa?dic clinic. There he was considered to be suffering from spastic diplegia, with the possibility of quadriplegia, as his pectoral muscles were found to be tight. Orthopedic treatment was instituted, and he was seen at internah thereafter, At one point the alternative diagnosis of pseudohypertrophic muscular dystrophy wae considered.In the following month the child was seen at the Neurological Unit in Edinburgh, where also it was thought that the probable diagnosis w&9 spastic J. PATE. BACT.-VOL. LXIT 841In Nissl and Alzheimer's Histologisehe und histopthologische Arbeiten uber die Grosshirnrinde, J e w , iii, 401. Quart. J . Micr. Sci., lxxxvii, 441. Arch. Neurol. Psychid., Chicago, Z..f. Neurol., clxx, 131. Biol. Rev., xxv, 73. Riv. d i Pat. Neru., liv, 1.Sem. medica, xli, (ii), 938. Brain, xlvii, 489. xlii, 1083.

Familial Leucodystrophy

“…In MLD there is usually histological evidence of demyelination (Norman, 1947;Brain and Greenfield, 1950;Leslie, 1952): this was absent in our cases. In addition the metachromatic material is characteristically brown when stained with cresyl violet (von Hirsch and Peiffer, 1957;Diezel, 1960): in our cases the metachromatic material stained pink with cresyl violet.…”