Metachromatic Leucodystrophy: A Case Report.

Metachromatic leukodystrophy (MLD) is an autosomal recessive neurodegenerative disorder characterized by deficient activity of the enzyme arylsulfatase-A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons. A pathological hallmark of MLD is demyelination and neurodegeneration, causing various and ultimately lethal neurological symptoms. Its frequency is estimated to be 1/40,000 live births. The disease encompasses three clinical subtypes: late infantile (40% of the patients with MLD), juvenile (40%), and adult (20%).

Hisopathological spectrum of glomerular disease in nepal: a seven-year retrospective study.

We analyzed 137 cases of renal biopsies at the Department of Pathology from 2001 to 2007. The average age was 30.6 years (range, 13-72) for males and 32.9 years (range, 11-75) for females. The male to female ratio was 1.6: 1. The most common clinical syndromes for performing renal biopsy were nephrotic syndrome (81.6%) followed by asymptomatic urinary abnormalities (5.8%), nephritic syndrome (3.6%), hypertension (2.9%), chronic kidney disease (2.2%), acute renal failure (2.2%), cirrhosis (0.7%) and transplant rejection (0.7%). The major glomerular diseases in descending order of frequency were membranous glomerulonephritis (MGN; 42.3%), membranoproliferative glomerulonephritis (MPGN; 21.9%), minimal change disease (MCD; 10.2%), focal segmental glomerulosclerosis (FSGS; 8.0%), IgA nephropathy (2.9%), post infectious glomerulonephritis (GN) (2.2%), chronic GN (2.2%), tubulointerstitial nephritis (TIN; 1.5%), lupus nephritis (1.5%), focal proliferative GN (1.5%), Clq nephropathy (1.5%), amyloidosis (1.5%) and other minor form of glomerular diseases (2.8%). The pattern ofglomerulonephritis in our study is different from the reports of other developing countries. It could be due to various races and altered environmental condition. The information obtained from these results can be used as baseline data for making efficient research in Nepalese population in the future. The higher frequency of MGN and MPGN among Nepalese in comparison with other developing countries deserves further evaluation.