Volume : IX, Issue : V, May - 2020
ATYPICAL PRESENTATION OF JUVENILE FORM OF A RARE DISORDER METACHROMATIC LEUCODYSTROPHY: A CASE REPORT
Nishant Acharya, Priyanka Sharma, Amar Thakur
Abstract :
Metachromatic leucodystrophy (MLD) is a rare autosomal recessive, lysosomal storage disorder due to deficiency of enzyme arylsufatase A. It is classified clinically according to the age of onset into three forms: Late infantile, juvenile, and adult. MRI findings of MLD include symmetric confluent hyperintense areas in periventricular white matter with a demonstration of “tigroid” or “leopard skin” pattern in deep white matter. Prognosis in MLD is not good with progressive quadriplegia, decereation, and they rarely live beyond mid adolocence invariably within 6 months to 4 years after onset. Our case is an illustration somewhat atypical presentation of MLD with monoperesis, with no intellectual dysfunction, incontinence, dysarthria and normal fundus.
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DOI : 10.36106/ijsr
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ATYPICAL PRESENTATION OF JUVENILE FORM OF A RARE DISORDER METACHROMATIC LEUCODYSTROPHY: A CASE REPORT, Nishant Acharya, Priyanka Sharma, Amar Thakur INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-9 | Issue-5 | May-2020
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ATYPICAL PRESENTATION OF JUVENILE FORM OF A RARE DISORDER METACHROMATIC LEUCODYSTROPHY: A CASE REPORT, Nishant Acharya, Priyanka Sharma, Amar Thakur INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH : Volume-9 | Issue-5 | May-2020
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