Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.
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.
de Vries
B B
BB
Department of Clinical Genetics, Institute of Child Health, London, UK.
van'tHoff
W G
WG
Surtees
R A
RA
Winter
R M
RM
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*