Congenital microcephaly and infantile nephrotic syndrome — a case report
A 22-month-old girl with nephrotic syndrome and microcephaly is described. The had dismorphic facies and psychomotor retardation. Her parents were first-degree relatives and one of her siblings had died with nephrotic syndrome and renal failure in infancy. An autosomal recessive inheritance is suggested. The diagnosis of this rare combination is discussed and the relevent literature is reviewed.
Key wordsInfantile nephrotic syndrome Microcephaly
- 2.Robain O, Lyon G (1972) Les microcephalies familiales par malformations cérébrale. Acta Neuropathol (Berl) 20:96–109Google Scholar
- 3.Shapiro LR, Duncan PA, Farnsworth PB, Lefkowitz M (1976) Congenital microcephaly, hiatus hernia and nephrotic syndrome, an autosomal recessive syndrome. Birth Defects 12:275–278Google Scholar
- 4.Metzke H, Brömme W (1982) Kongenitale mikrozephalie mit muskelhypotonie und nephrotischem syndrom. Pediatr Grenzgeb 21: 39–41Google Scholar
- 5.Robain O, Deonna T (1983) Pachygyria and congenital nephrosis disorder of migration and neuronal orientation. Acta Neuropathol (Berl) 60:137–141Google Scholar
- 8.Mahan JD, Vernier RL (1987) Congenital nephrotic syndrome. In: Holiday MA, Barrat TM, Vernier RL (eds) Pediatric nephrology. Williams and Wilkins, Baltimore, pp 457–476Google Scholar