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Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life
Author(s) -
Pöge AP,
Autschbach F.,
Korall H.,
Trefz FK,
Mayatepek E.
Publication year - 1997
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1997.tb14827.x
Subject(s) - medicine , nephrotic syndrome , choreoathetosis , glomerulonephritis , pediatrics , mesangial proliferative glomerulonephritis , dystonia , kidney , psychiatry
We describe a male patient with glutaric aciduria type I which had already presented during the neonatal period with therapy‐resistant seizures. In the course of the disease, he also developed choreoathetosis and dystonia. The disease was associated with nephrotic syndrome. Renal histology showed signs of a glomerular disorder with shrinking of glomerular tufts, increase in mesangial matrix, proliferation of extracapillary epithelial cells and formation of larger epithelial crescents. The child died at 22 weeks of age due to end‐stage renal failure. This report illustrates an unusual and early clinical manifestation of glutaric aciduria type I and a hitherto unknown association with nephrotic syndrome in early childhood.