Lissencephaly and nephrotic syndrome: Galloway-Mowat syndrome

Abstract

The Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder which is characterized by the presence of renal and brain abnormalities. Hiatal hernia, initially thought to be a part, is longer a consistent feature of syndrome. The neurological features include microcephaly, developmental delay, seizures, hypotonia, abnormal sulci and gyri, and abnormal cerebellum. The renal finding is that of nephrotic syndrome, but histopathologically may vary to focal segmental sclerosis or mesangial sclerosis. Nephrotic syndrome is usually diagnosed before the age of 2 years and may lead to renal failure. We describe a 29-week preterm baby of unrelated parents with intrauterine growth retardation, dysmorphic features, lissencephaly, and nephrotic syndrome. Nephrotic syndrome was diagnosed at the age of 2 months. The baby had progressive neurological deterioration and died at the age of 14 weeks.