Familial Leucodystrophy
نویسندگان
چکیده
منابع مشابه
Infantile Metachromatic Leucodystrophy.
Metachromatic leucodystrophy is an uncommon type of diffuse cerebral sclerosis. This condition is found at various ages, but it is convenient to classify cases into congenital, infantile, juvenile, and adult varieties. The infantile form, which presents a fairly constant clinical and pathological pattern, was first described by Greenfield (1933) who recorded two cases, and four further examples...
متن کاملcausing late infantile metachromatic leucodystrophy
Received 3 November 1993 Revised version accepted for publication 28 March 1994 Abstract Metachromatic leucodystrophy is an autosomal recessive degenerative disease of the nervous system caused by the deficiency of the lysosomal enzyme arylsulphatase A (ARSA). We report here on the high incidence of late infantile MLD among Muslim Arabs originating from Jerusalem, most probably because of a fou...
متن کاملThe Diagnosis of Metachromatic Leucodystrophy during Life.
Metachromatic leucodystrophy is deserving an increasing interest from neurologists and pediatricians, mainly because it is the only disease in the whole group of diffuse cerebral sclerosis amenable to an intra vitam diagnosis by means of bloodless procedures. The merit for this belongs to Austin 1 , who introduced a simple test to demonstrate metachromatic bodies in the urine sediment. Although...
متن کاملDiagnosis of Krabbe's infantile leucodystrophy.
Increasing interest is now being paid to a correct diagnosis in the early stages of the different types of degenerative diseases of the central nervous system of infancy and childhood. Among the diseases which affect the white matter of the nervous system a subgroup is recognized as the heredo-degenerative type or the leucodystrophies. In 1956 Poser and van Bogaert (1956) stated that it was alm...
متن کاملSudanophil leucodystrophy in a pachygyric brain.
Recent classifications of the diffuse cerebral scleroses have recognized the need to subdivide those cases which share in common the feature of sudanophil breakdown products of myelin. In Schilder's disease, as represented by the case he described in 1912, there are large, bilocular, sharply demarcated areas of demyelination in the centrum ovale, often associated with smaller plaques similar to...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1964
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.39.206.345