title: Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis.
abstract: We report five cases of nephrotic syndrome due to focal segmental glomerulosclerosis (FSGS) in mentally retarded children with severe infantile spasms. Four of the five children diagnosed as West syndrome, Lennox syndrome, or petit mal epilepsy also had cerebral palsy and microcephaly. The other patient had petit mal epilepsy without cerebral palsy and microcephaly. All patients first developed infantile spasms, with the time of onset ranging from 1 week to 2 years of age, and subsequently developed proteinuria, followed by the nephrotic syndrome at 3 to 14 years of age. Four of the five developed terminal renal failure between 7 and 11 years of age. Three subsequently died, but the other underwent kidney transplantation and is still living without further complications. The light, electron microscopic, and immunohistochemical studies performed on the renal biopsies from all the patients and on the autopsy specimens from two cases exhibited FSGS-like lesions. Besides segmental hyalinosis, differing degrees of mesangiolysis were seen, which sometimes developed into dissecting microaneurysms of the glomerular capillary loops. The clinical picture described can be differentiated from congenital nephrotic syndrome (CNS) or infantile nephrotic syndrome (INS) with respect to the age of onset, outcome, and morphological appearance. We reviewed the previous literature and extended earlier observations about an unusual association between the nephrotic syndrome due to FSGS-like lesion, mental retardation, infantile spasms, and/or microcephaly in children.
authors.affiliation: Department of Pathology, Jikei University School of Medicine, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Joh
authors.forename: N
authors.initials: N
authors.lastname: Usui
authors.forename: S
authors.initials: S
authors.lastname: Aizawa
authors.forename: Y
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: Y
authors.initials: Y
authors.lastname: Muramatsu
authors.forename: S
authors.initials: S
authors.lastname: Sakai
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003165:Complement System Proteins / Q000032:analysis; D003937:Diagnosis, Differential; D005260:Female; D005920:Glomerular Mesangium / Q000473:pathology*; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000276:immunology / Q000473:pathology*; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007150:Immunohistochemistry; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D007678:Kidney Glomerulus / Q000276:immunology; D008297:Male; D009404:Nephrotic Syndrome / Q000150:complications / Q000175:diagnosis / Q000276:immunology; D013036:Spasms, Infantile / Q000150:complications*
chemical_list: D007136:Immunoglobulins; D003165:Complement System Proteins