Literature DB >> 8747110

Microcephaly and early-onset nephrotic syndrome--confusion in Galloway-Mowat syndrome.

H Sano1, A Miyanoshita, N Watanabe, Y Koga, Y Miyazawa, Y Yamaguchi, Y Fukushima, N Itami.   

Abstract

We report a 2-year-old girl with nephrotic syndrome, microcephaly, seizures and psychomotor retardation. Histological studies of a renal biopsy revealed focal glomerular sclerosis with mesangiolysis and capillary microaneurysms. Dysmorphic features were remarkable: abnormal-shaped skull, coarse hair, narrow forehead, large low-set ears, almond-shaped eyes, low nasal bridge, pinched nose, thin lips and micrognathia. Cases with this rare combination of microcephaly and early onset of nephrotic syndrome with various neurological abnormalities have been reported. However, clinical manifestations and histological findings showed a wide variation, and there is a lot of confusion in this syndrome. We therefore reviewed the previous reports and propose a new classification of this syndrome.

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Year:  1995        PMID: 8747110     DOI: 10.1007/bf00868718

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN: 0931-041X            Impact factor:   3.714


  14 in total

1.  Clinical quiz. Congenital nephrotic syndrome, microcephaly, brain malformations and diaphragmatic abnormality associated with histological features of diffuse mesangial sclerosis.

Authors:  O Koskimies; H Sariola; C Holmberg; J Rapola
Journal:  Pediatr Nephrol       Date:  1991-07       Impact factor: 3.714

2.  [Familial microcephalies due to cerebral malformation. Anatomical and clinical study].

Authors:  O Robain; G Lyon
Journal:  Acta Neuropathol       Date:  1972       Impact factor: 17.088

3.  Congenital microcephaly with hiatus hernia and nephrotic syndrome in two sibs.

Authors:  W H Galloway; A P Mowat
Journal:  J Med Genet       Date:  1968-12       Impact factor: 6.318

4.  Congenital microcephaly and infantile nephrotic syndrome--a case report.

Authors:  F Yalçinkaya; N Tümer; M Ekim; S Kuyucu; N Cakar; C Ensari
Journal:  Pediatr Nephrol       Date:  1994-02       Impact factor: 3.714

Review 5.  Mesangiolysis.

Authors:  T Morita; J Churg
Journal:  Kidney Int       Date:  1983-07       Impact factor: 10.612

6.  Focal segmental glomerulosclerosis associated with infantile spasms in five mentally retarded children: a morphological analysis on mesangiolysis.

Authors:  K Joh; N Usui; S Aizawa; Y Yamaguchi; S Chiba; T Takahashi; Y Muramatsu; S Sakai
Journal:  Am J Kidney Dis       Date:  1991-05       Impact factor: 8.860

7.  Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis: an autosomal recessive syndrome.

Authors:  B Z Garty; B Eisenstein; J Sandbank; S Kaffe; R Dagan; N Gadoth
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

Review 8.  Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.

Authors:  B G Cooperstone; A Friedman; B S Kaplan
Journal:  Am J Med Genet       Date:  1993-08-15

9.  Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.

Authors:  R A Roos; P D Maaswinkel-Mooy; E M vd Loo; H H Kanhai
Journal:  Eur J Pediatr       Date:  1987-09       Impact factor: 3.183

Review 10.  Kidney in Galloway-Mowat syndrome: clinical spectrum with description of pathology.

Authors:  A H Cohen; M C Turner
Journal:  Kidney Int       Date:  1994-05       Impact factor: 10.612

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  6 in total

1.  Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.

Authors:  Sriram Krishnamurthy; N G Rajesh; Ananthakrishnan Ramesh; Martin Zenker
Journal:  Indian J Pediatr       Date:  2011-12-03       Impact factor: 1.967

2.  Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Authors:  Hanne Laakkonen; Tuula Lönnqvist; Johanna Uusimaa; Erik Qvist; Leena Valanne; Matti Nuutinen; Marja Ala-Houhala; Kari Majamaa; Hannu Jalanko; Christer Holmberg
Journal:  Pediatr Nephrol       Date:  2005-12-17       Impact factor: 3.714

3.  Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.

Authors:  Rasim O Rosti; Esra Dikoglu; Maha S Zaki; Ghada Abdel-Salam; Nawal Makhseed; Jordan C Sese; Damir Musaev; Basak Rosti; Mary J Harbert; Marilyn C Jones; Keith K Vaux; Joseph G Gleeson
Journal:  Am J Med Genet A       Date:  2016-01-05       Impact factor: 2.802

4.  Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.

Authors:  Robert N Jinks; Erik G Puffenberger; Emma Baple; Brian Harding; Peter Crino; Agnes B Fogo; Olivia Wenger; Baozhong Xin; Alanna E Koehler; Madeleine H McGlincy; Margaret M Provencher; Jeffrey D Smith; Linh Tran; Saeed Al Turki; Barry A Chioza; Harold Cross; Gaurav V Harlalka; Matthew E Hurles; Reza Maroofian; Adam D Heaps; Mary C Morton; Lisa Stempak; Friedhelm Hildebrandt; Carolin E Sadowski; Joshua Zaritsky; Kenneth Campellone; D Holmes Morton; Heng Wang; Andrew Crosby; Kevin A Strauss
Journal:  Brain       Date:  2015-06-11       Impact factor: 13.501

5.  Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype.

Authors:  Pei-Yi Lin; Min-Hua Tseng; Martin Zenker; Jia Rao; Friedhelm Hildebrandt; Shih-Hua Lin; Chun-Chen Lin; Jui-Hsing Chang; Chyong-Hsin Hsu; Ming-Dar Lee; Shuan-Pei Lin; Jeng-Daw Tsai
Journal:  Orphanet J Rare Dis       Date:  2018-12-17       Impact factor: 4.123

6.  Infant Boy with Microcephaly Gastroesophageal Refl ux and Nephrotic Syndrome (Galloway-Mowat Syndrome): A Case Report.

Authors:  Majid Malaki; Mandana Rafeey
Journal:  Middle East J Dig Dis       Date:  2012-01
  6 in total

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