A BSTRACT Galloway–Mowat syndrome is a rare autosomal recessive genetic disorder that is highly underrecognized. The phenotype is heterogeneous, but it is now widely accepted that early-onset nephrotic syndrome and microcephaly with brain malformation are characteristic features of Galloway–Mowat syndrome. It has been phenotypically defined as the presence of primary microcephaly, developmental delay, seizure tendency, and early-onset nephrotic syndrome. Rarely, congenital syphilis or other intrauterine infections can cause congenital nephrotic syndrome, a relatively uncommon illness in children with genetic reasons linked to podocin gene abnormalities. This syndrome is characterized by gyral and myelin anomalies in MRI, early onset of nephrotic syndrome, microcephaly, developmental delay, fascio-skeletal dysmorphism, along with end-stage renal disease. Here, the authors report a case of a 10-month-old male infant who was admitted for clinical symptomatology suggestive of nephrotic syndrome and delay in achieving key developmental milestones and, on examination, had failure to thrive with microcephaly. Following a thorough assessment of the child, a homozygous missense variant in exon 9 of the OSGEP gene was discovered on genetic analysis by whole-exome sequencing. This variant is suggestive of Galloway–Mowat syndrome type 3 and results in an amino acid substitution of proline for alanine at codon 286. Our index case emphasizes the importance of detailed evaluation so as to apprise and prognosticate the parents of a child having a rare and nearly fatal condition by the utilization of genetic analysis.
Singh et al. (Sun,) studied this question.