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Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a
1Department of Pathology, Jikei University School of Medicine, Tokyo, Japan.
Insights
This study details five children with nephrotic syndrome caused by focal segmental glomerulosclerosis (FSGS). The condition was associated with infantile spasms, intellectual disability, and often cerebral palsy and microcephaly.
Area of Science:
- Pediatric Nephrology
- Neurology
- Pathology
Background:
- Nephrotic syndrome in children can have various causes.
- Infantile spasms are a severe form of epilepsy in infants.
- Focal segmental glomerulosclerosis (FSGS) is a pattern of kidney damage.
Purpose of the Study:
- To describe a unique cohort of children with nephrotic syndrome due to FSGS.
- To highlight the association with infantile spasms, intellectual disability, and microcephaly.
- To differentiate this clinical entity from other forms of childhood nephrotic syndrome.
Main Methods:
- Case series reporting on five children.
- Clinical data collection including age of onset, symptoms, and outcomes.
- Renal biopsy and autopsy specimen analysis using light microscopy, electron microscopy, and immunohistochemistry.
Main Results:
- Five children presented with infantile spasms followed by nephrotic syndrome and FSGS-like lesions.
- Associated conditions included intellectual disability, cerebral palsy, and microcephaly in most cases.
- Four of five patients developed renal failure; one survived post-transplantation.
Conclusions:
- An unusual association exists between FSGS-related nephrotic syndrome, infantile spasms, and neurodevelopmental abnormalities in children.
- This presentation differs clinically and morphologically from congenital or infantile nephrotic syndromes.
- Further research is warranted to understand the underlying mechanisms of this rare condition.
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.