Background and purpose: Radially oriented hypointense stripes in hyperintense cerebral white matter are recognized on T2-weighted images of certain lysosomal storage disorders. We compared in vivo and postmortem MR imaging findings with histopathologic findings in three patients with metachromatic leukodystrophy (MLD), globoid cell leukodystrophy (GLD) and infantile GM1 gangliosidosis (GM1) to ...

MATERIAL — T w o fami l ia l cases (cous ins) of the late j u v e n i l e type of metachromat ic leucodystrophy w e r e studied. T h e diagnosis was based on the cl inical picture plus the f inding of me tachromat ic bodies in urine (Aus t in t e s t 1 ) , sal iva, and CSF (Canelas et a l . 1 2 ) , as we l l as in biopsies of per ipheral nerve , l iver , and kidney. T h e cl inical and labora t...

Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, ...

UNLABELLED Metachromatic leukodystrophy (MLD) is a recessive autosomal disease which is characterized by an accumulation of sulfatides in the central and peripheral nervous system. It is due to the enzyme deficiency of the sulfatide sulfatase i.e. arylsulfatase A (ASA). we studied 5/200 cases of MLD and clearly distinguished three clinical forms. One of them presented the juvenile form; two pre...

A number of specific encephalopathies of mink are recognized, eg, Chasteks' paralysis-an haemorrhagic destruction of grey matter associated with hypothiaminosis (Innes and Saunders, 1962) and metachromatic leucodystrophy which has a sublethal autosomal recessive transmission (Brander and Palludan, 1965). The present paper concerns a disease characterized by spongy transformation of grey matter ...

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder mainly caused by the arysulfatase A (ARSA) gene mutations, which results in ARSA activity deficient to accumulate sulfatide in the oligodendrocytes and in the Schwann cells. On the basis of the age of onset, MLD is characterized by three clinical subtypes: late infantile, juvenile, and adult. In this manuscr...