title: Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.
abstract: We report two brothers with microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis. The elderbrother showed nephrotic syndrome from 2 years of age and died of renal failure at 8 years of age. The younger brother showed mild proteinuria from 2 years of age, and his renal function was still preserved at 15 years of age. We propose that our patients may be affected with a mild form of Galloway-Mowat syndrome or another autosomal recessive syndrome with focal segmental glomerulosclerosis and central nervous system abnormalities.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Japan. shiihara@med.id.yamagata-u.ac.jp
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Kimura
authors.forename: Akira
authors.initials: A
authors.lastname: Matsunaga
authors.forename: Kensuke
authors.initials: K
authors.lastname: Joh
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000293:Adolescent; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002648:Child; D017809:Fatal Outcome; D005923:Glomerulosclerosis, Focal Segmental / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology*; D011507:Proteinuria / Q000209:etiology; D051437:Renal Insufficiency; D035781:Siblings; D013577:Syndrome