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  • Title: [Association of early-onset nephrotic syndrome and microcephaly. Apropos of 4 cases in 2 families].
    Author: Gaudelus J, Leverger G, Rault G, Nathanson M, Giorno JL, Boccon-Gibod L, Levy M, Broyer M.
    Journal: Arch Fr Pediatr; 1984; 41(6):409-15. PubMed ID: 6487044.
    Abstract:
    The authors report 4 cases in 2 different families of a syndrome characterized by nephrotic syndrome of early onset (during the first 2 years of life) and microcephaly. Such an association was previously reported in 5 cases. In 4 it was familial. The study of families suggests an autosomal recessive transmission. Microcephaly was associated with psychomotor retardation, sometimes dysmorphic facies and various neurologic abnormalities. The nephrotic syndrome was characterized by its early onset and prognostic severity. However, the renal histologic lesions were heterogeneous: either minimal glomerular changes with focal and segmental hyalinosis or mesangial sclerosis, or, so-called "microcystic dysplasia". This heterogeneity does not suggest a single genetically determined disorder.
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