Finnish type congenital nephrotic syndrome in a Sri Lankan neonate

Abstract

Congenital nephrotic syndrome is a rare condition presenting as oedema in the newborn period. It is often not entertained as a differential diagnosis of neonatal oedema because it has been mainly described among those of Finnish descent. We report a case of histologically proven Finnish type nephrotic syndrome in a Sri Lankan neonate. Case report A three week old infant, born at term, weighing 3.15 kg, following an uncomplicated pregnancy (placental size not known), developed lethargy, rapid breathing and poor feeding. He was treated for septicaemia at the local hospital and was transferred to the Lady Ridgeway Children’s Hospital with haematuria and abdominal distension. He was the second child of non-consanguineous parents whose first pregnancy had ended in an unexplained intrauterine death at eight months. On examination, the baby appeared well thrived but hypothermic and pale and had prominent cutis marmorata with a prolonged capillary refill. The abdomen was distended and both kidneys were ballotable. There was moderate hepatosplenomegaly. Investigations showed a moderate proteinuria (2+) and a field full of red cells with a few pus cells, in the urine. A marked neutrophilia, with a left shift, was seen in the blood picture. The platelet count was 130x10 9 /L. Urine and blood cultures were sterile. The serum creatinine was 3.8 mg/dl. Arterial blood gases showed a metabolic acidosis. Bilateral hydronephrotic kidneys, with diffusely increased echogenicity and poor corticomedullary demarcation, were found on ultrasonic examination. There was no evidence of Wilms tumour or renal vein thrombosis.