Congenital nephrotic syndrome with microcephaly: report of a case

Congenital nephrotic syndrome is an uncommon disease with variable etiology, course and prognosis; its association with microcephaly is even more unusual. A case is reported here of congenital nephrotic syndrome because of focal glomerulosclerosis in a three-month-old female infant with microcephaly since birth. There were no known renal diseases nor hereditary disorders in her family. The serologic tests for syphilis, toxoplasmosis, rubella, and cytomegalovirus infections were negative. Magnetic resonance imaging of the brain showed diffuse atrophic change of the cerebral hemispheres and brain stem with a remarkable increase of extracerebral space. The infant died at the age of four months without any clinical cause other than congenital nephrotic syndrome. These findings, including congenital nephrotic syndrome and microcephaly accompanied by various other clinical symptoms, have been described as a clinical entity with an autosomal recessive mode of inheritance.