Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.
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.
Shiihara
Takashi
T
Department of Pediatrics, Yamagata University School of Medicine, Japan. shiihara@med.id.yamagata-u.ac.jp
Kato
Mitsuhiro
M
Kimura
Toshiyuki
T
Matsunaga
Akira
A
Joh
Kensuke
K
Hayasaka
Kiyoshi
K
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