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: Takashi Shiihara, Mitsuhiro Kato, Toshiyuki Kimura, Akira Matsunaga, Kensuke Joh, Kiyoshi Hayasaka
• Journal: Journal of child neurology (J Child Neurol) Vol. 18 Issue 2 Pg. 147-9 (Feb 2003) ISSN: 0883-0738 [Print] United States
• PMID: 12693786 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Atrophy
• Cerebellum (pathology)
• Child
• Fatal Outcome
• Glomerulosclerosis, Focal Segmental (genetics, pathology)
• Humans
• Magnetic Resonance Imaging
• Male
• Microcephaly (genetics, pathology)
• Proteinuria (etiology)
• Renal Insufficiency
• Siblings
• Syndrome