Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy

Tsai

et al. 2001

Pediatric Nephrology

We report a female infant with Galloway-Mowat syndrome. In addition to the characteristic dysmorphic appearance, neurological anomalies and early-onset nephrotic syndrome, she had arachnodactyly, an observation thus far reported uniquely in Taiwan. Also, her elder sister had the same condition. Renal pathology on light microscopy showed cystic dilatation of the renal tubules. Electron microscopy showed an irregular glomerular basement membrane and effacement of foot processes. This observation suggests that malformation of the glomerular basement membrane may cause the glomerulopathy in Galloway-Mowat syndrome.

Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Galloway-Mowat syndrome: a glomerular basement membrane disorder?

Tsai

et al. 2001

Pediatric Nephrology

“…The genes for GMS have not been identified and it is not possible to offer prenatal genetic testing for these couples. MRI may be a suitable tool for early prenatal diagnosis considering absence of sulci and gyri and reduced density of the white matter in GMS (Cooperstone et al, 1993;Kingo et al, 1997). Choline has been shown to be decreased in GMS by MR spectroscopy (MRS) (Lam et al, 1998).…”

Section: Discussionmentioning

confidence: 99%

Late-onset growth restriction in Galloway-Mowat syndrome: a case report

et al. 2005

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. Growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. Nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction.

“…In GMS the onset of nephrotic syndrome occurs early in life (0-34 months, median 3 months), with no response to treatment and progressive deterioration of renal function [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16]. The kidney biopsy findings described in GMS range from minimal change disease (MCD), mesangioproliferative glomerulonephritis, focal segmental glomerulosclerosis (FSGS) to diffuse mesangial sclerosis (DMS) [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16]. The neurological manifestations include microcephaly, psychomotor retardation, and structural central nervous system anomalies that on gross anatomy include abnormal sulci and gyri, pachygyria, cortical atrophy, and cerebellar dysgenesis/hypoplasia, and on histopathology migrational anomalies of the neurons (neuronal heterotopias, abnormal or failed lamination of cortex) [1,2,3,4,5,6,7,8,9,10,11,12,13,…”

Section: Introductionmentioning

confidence: 99%

Podocyte proteins in Galloway-Mowat syndrome

Srivastava

Whiting

Garola

et al. 2001

Pediatric Nephrology

Galloway-Mowat syndrome is an autosomal recessive disorder characterized by early onset nephrotic syndrome and central nervous system anomalies. Mutations in podocyte proteins, such as nephrin, alpha-actinin 4, and podocin, are associated with proteinuria and nephrotic syndrome. The genetic defect in Galloway-Mowat syndrome is as yet unknown. We postulated that in Galloway-Mowat syndrome the mutation would be in a protein that is expressed both in podocytes and neurons, such as synaptopodin, GLEPP1, or nephrin. We therefore analyzed kidney tissue from normal children (n=3), children with congenital nephrotic syndrome of the Finnish type (CNF, n=3), minimal change disease (MCD, n=3), focal segmental glomerulosclerosis (FSGS, n=3), and Galloway-Mowat syndrome (n=4) by immunohistochemistry for expression of synaptopodin, GLEPP1, intracellular domain of nephrin (nephrin-I), and extracellular domain of nephrin (nephrin-E). Synaptopodin, GLEPP1, and nephrin were strongly expressed in normal kidney tissue. Nephrin was absent, and synaptopodin and GLEPP1 expression were decreased in CNF. The expression of all three proteins was reduced in MCD and FSGS; the decrease in expression being more marked in FSGS. Synaptopodin, GLEPP1, and nephrin expression was present, although reduced in Galloway-Mowat syndrome. We conclude that the reduced expression of synaptopodin, GLEPP1, and nephrin in Galloway- Mowat syndrome is a secondary phenomenon related to the proteinuria, and hence synaptopodin, GLEPP1, and nephrin are probably not the proteins mutated in Galloway-Mowat syndrome.