Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay

Clinical Dysmorphology
B B de VriesR M Winter

Abstract

We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous.

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Citations

Jul 3, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Andreas DietrichMartin Zenker
May 29, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Manish D SinhaMichael P Champion
Dec 7, 2011·Indian Journal of Pediatrics·Sriram KrishnamurthyMartin Zenker
Feb 16, 2008·Pathology, Research and Practice·Hervé SarteletMartine Doco-Fenzy
May 10, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Julien Heinrich ParkThorsten Marquardt
Jun 22, 2016·Pediatrics International : Official Journal of the Japan Pediatric Society·Lyndsay A HarshmanJane E Brumbaugh
Jan 15, 2011·Journal of Child Neurology·Julia KeithYves Robitaille
Sep 24, 2018·American Journal of Medical Genetics. Part a·Mirna AssoumLaurence Faivre
Feb 16, 2005·Prenatal Diagnosis·Lin KangShio-Jean Lin
Jun 21, 2005·Prenatal Diagnosis·Chih-Ping ChenWayseen Wang

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