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A “Full House” Glomerulopathy in a Patient with Multiple Lentigenes Syndrome: A Case Report

Issue: 
DOI: 
10.7727/wimj.2016.001
Pages: 
185-9

ABSTRACT

Multiple lentigines syndrome (MLS) is an autosomal dominant disease which is usually diagnosed clinically by the presence of characteristic features. The molecular genetic testing is an adjuvant diagnostic tool to identify the mutation of particular genes such as PTPN11 genes, RAF1, BRAF or MAP2K1 genes. This syndrome was formerly known as LEOPARD syndrome or Noonan syndrome with multiple lentigines. ‘LEOPARD syndrome’ is an acronym of characteristic features (Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness). There was no previous case report about any glomerulonephropathy in association with MLS. We present a case of a patient with MLS with recurrent nephrotic syndrome who was found to have histologic evidence of ‘full house’ glomerulopathy.

Accepted: 
11 Jan, 2016
e-Published: 23 Feb, 2016

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