Literature DB >> 12693786

Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome.

Takashi Shiihara1, Mitsuhiro Kato, Toshiyuki Kimura, Akira Matsunaga, Kensuke Joh, Kiyoshi Hayasaka.   

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.

Entities:  

Mesh:

Year:  2003        PMID: 12693786     DOI: 10.1177/08830738030180021801

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  3 in total

1.  An unusual case of nephrotic syndrome in a microcephalic infant: Answers.

Authors:  Elizabeth Baker; Donald Weaver; Susan Massengill; Dana Mittag; Jane Juusola; Laurie Demmer
Journal:  Pediatr Nephrol       Date:  2019-05-08       Impact factor: 3.714

2.  Analysis of genes encoding laminin beta2 and related proteins in patients with Galloway-Mowat syndrome.

Authors:  Andreas Dietrich; Verena Matejas; Martin Bitzan; Seema Hashmi; Cathy Kiraly-Borri; Shuan-Pei Lin; Eva Mildenberger; Bernd Hoppe; Lars Palm; Takashi Shiihara; Jens-Oliver Steiss; Jeng-Daw Tsai; Udo Vester; Stefanie Weber; Elke Wühl; Kristina Zepf; Martin Zenker
Journal:  Pediatr Nephrol       Date:  2008-07-02       Impact factor: 3.714

Review 3.  Expansion of phenotype and genotypic data in CRB2-related syndrome.

Authors:  Ryan E Lamont; Wen-Hann Tan; A Micheil Innes; Jillian S Parboosingh; Dina Schneidman-Duhovny; Aleksandar Rajkovic; John Pappas; Pablo Altschwager; Stephanie DeWard; Anne Fulton; Kathryn J Gray; Max Krall; Lakshmi Mehta; Lance H Rodan; Devereux N Saller; Deanna Steele; Deborah Stein; Svetlana A Yatsenko; François P Bernier; Anne M Slavotinek
Journal:  Eur J Hum Genet       Date:  2016-03-23       Impact factor: 4.246

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.