We report a 2-year-old girl with nephrotic syndrome, microcephaly, sei
zures and psychomotor retardation, Histological studies of a renal bio
psy revealed focal glomerular sclerosis with mesangiolysis and capilla
ry microaneurysms. Dysmorphic features were remarkable: abnormal-shape
d skull, coarse hair, narrow forehead, large low-set ears, almond-shap
ed eyes, low nasal bridge, pinched nose, thin lips and micrognathia. C
ases with this rare combination of microcephaly and early onset of nep
hrotic syndrome with various neurological abnormalities have been repo
rted, However, clinical manifestations and histological findings showe
d a wide variation, and there is a lot of confusion in this syndrome.
We therefore reviewed the previous reports and propose a new classific
ation of this syndrome.