title: Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.
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.
authors: Department of Clinical Genetics, Institute of Child Health, London, UK.
authors: B B
authors: BB
authors: de Vries
authors: W G
authors: WG
authors: van'tHoff
authors: R A
authors: RA
authors: Surtees
authors: R M
authors: RM
authors: Winter
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis; D002658:Developmental Disabilities / Q000175:diagnosis*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000175:diagnosis*; D009404:Nephrotic Syndrome / Q000175:diagnosis*