Clinicians should suspect ASD deficiency in any newborn presented with severe congenital microcephaly followed by severe epileptic encephalopathy and global developmental delay. CSF asparagine level is low in this disorder while plasma may be low.

One hundred and twenty percutaneous renal biopsies performed in 104 patients aged 1 month to 15 years were analysed. Ultrasound examination was used for localization of the kidneys. Adequate renal tissue was obtained in 103 biopsies, with an overall success rate of 85.8%. The most frequent complication was gross haematuria, which occurred in 32 biopsies, but only 5 children required blood transfusion. Nineteen patients developed perirenal haematoma; 2 of these were symptomatic. Arteriovenous fistula was diagnosed in 2 patients. One patient died secondary to intestinal perforation. Serious complications were noted in patients with chronic renal failure. The success and complication rates in 10 patients less than 1 year of age were comparable with the rest of the group. The frequency of serious complications on renal biopsy in the present study was slightly higher than in the more developed countries.

The clinical biochemical, radiological, and histological data of a 5-year-old boy with severe limb deformities and renal failure due to oligomeganephronia and renal hypoplasia are reported. This patient represents another example of acrorenal syndrome. This boy has a severe visual defect due to pigmentory retinopathy, which has not been reported previously.

Twelve clinical and laboratory characteristics of nephrotic syndrome were compared in 24 children with biopsy-proven mesangial proliferative glomerulonephritis (MesPGN) and 17 children with biopsy-proven minimal-change nephropathy (MCNS). The objective of the study was to determine if these characteristics alone, without renal biopsy, could be used to differentiate the two histopathologic entities. Sex, urinary protein level and IgM immunofluorescence were found to be significantly different in the two groups. Discriminant analysis produced two formulae which gave a discriminant rate of 79% for MesPGN and 76% for MCNS. We conclude that the clinical and laboratory characteristics studied could not differentiate MesPGN from MCNS.