Galloway Mowat syndrome: case report

Abstract

The objective of this case report is to stress that the association of nephrotic syndrome and microcephaly with cerebellar atrophy at young age may represent a very rare Galloway Mowat syndrome. Galloway Mowat syndrome is usually followed by congenital or early infantile nephrotic syndrome and progressive neurologic deterioration of the child, sometimes associated with hiatal hernia. These patients have a generally poor prognosis and usually die in the fi rst years of life. Although it is considered to be an autosomal recessive disorder, its causative gene(s) remain unknown. Even though the renal pathology varies from minimal changes to glomerulosclerosis, diff use mesangial sclerosis is the most common pathologic fi nding. We report on a girl with nephrotic syndrome caused by diff use mesangial sclerosis, microcephaly, facial dysmorphism, hypotrophic cerebellum and atrophic vermis, and progressive neurologic deterioration. The patient died from multiorgan failure.