Infantile nephrotic syndrome with prominent facial dysmorphism: A possible case of Galloway-Mowat syndrome

• Autor(a) principal: Ahmed,Ayaz
• Data de Publicação: 2014
• Outros Autores: Khalid,Adeel, Qaiser,Habib, Sajjad,Reema, Qader,Saima, Hashmi,Seema, Lanewala,Ali, Kazi,Javed Iqbal, Mubarak,Muhammed
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-01692014000200009
• topic: Diffuse cortical atrophy; dysmorphism; microcephaly; nephrotic syndrome; renal biopsy

Galloway-Mowat syndrome is a rare hereditary disorder originally described as a triad of early-onset nephrotic syndrome, microcephaly, and hiatus hernia. Subsequent reports have expanded the clinical and pathological spectrum of the disorder. We describe a patient with this syndrome, a 14-month-old girl with infantile nephrotic syndrome having a protein to creatinine ratio of 6.1, microcephaly, low-set ears, hypertelorism, beaked nose, narrow-forehead, almond-shaped eyes, arachnodactyly, pinpoint pupils and myopia. Renal biopsy revealed diffuse mesangial sclerosis and focal microcystic dilatation of the tubules and magnetic resonance imaging of the brain showed diffuse cortical atrophy. The above constellation of features favours the diagnosis of our case as Galloway-Mowat syndrome