title: Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.
abstract: The authors present the first case of Galloway Mowat Syndrome (GMS), a rare disorder comprising of nephrotic syndrome in association with microcephaly, from India. An 11-mo-old girl with microcephaly, developmental delay and nystagmus presented with nephrotic syndrome. The perinatal and neonatal periods had been uneventful. The renal biopsy revealed mesangial proliferation with IgM deposition, while MRI of the brain showed hypomyelination. Molecular diagnosis by polymerase chain reaction (PCR) did not reveal any pathogenic sequences in the exons and the flanking intronic regions of the NPHS2 gene and LAMB2 gene. The infant responded to prednisolone. GMS must be suspected whenever microcephaly and global developmental delay occurs in association with nephrotic syndrome, as this is important for prognostication and genetic counseling. The genetics of GMS remains an enigma and further research is required to delineate the pathogenesis of this disorder.
authors.affiliation: Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry 605006, India. drsriramk@yahoo.com
authors.forename: Sriram
authors.initials: S
authors.lastname: Krishnamurthy
authors.forename: N G
authors.initials: NG
authors.lastname: Rajesh
authors.forename: Ananthakrishnan
authors.initials: A
authors.lastname: Ramesh
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
mesh_terms: D002658:Developmental Disabilities / Q000209:etiology; D005260:Female; D006551:Hernia, Hiatal / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis*; D009401:Nephrosis / Q000150:complications / Q000175:diagnosis*; D009404:Nephrotic Syndrome / Q000209:etiology