Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.
Two boys are described with congenital microcephaly, infantile spasms, psychomotor retardation and an early-onset nephrotic syndrome. The autopsy findings of one patient are described in detail. Polymicrogyria was the most prominent feature and the kidneys showed focal segmental glomerulosclerosis. These findings have been described as a clinical entity, the leading symptoms being congenital microcephaly, early-onset nephrotic syndrome and mental retardation, accompanied by various other clinical symptoms. A review of the literature suggests an autosomal recessive mode of inheritance.
Roos
R A
RA
Department of Neurology, University Hospital, Leiden, The Netherlands.
Maaswinkel-Mooy
P D
PD
vd Loo
E M
EM
Kanhai
H H
HH
D001284:Atrophy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D008854:Microscopy, Electron; D009404:Nephrotic Syndrome / Q000235:genetics* / Q000473:pathology; D013036:Spasms, Infantile / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed