All issues > Volume 48(4); 2005

Case Report

Korean J Pediatr. 2005;48(4):448-452. Published online April 15, 2005.

A Case of Neurofibromatosis Combined with Ectopic Kidney

Eugene EG Yang¹, Bo Hyun BH Kim¹, Joon Soo JS Lee¹

¹Department of Pediatrics, Handicapped Children's Institute, Yonsei University, College of Medicine, Seoul, Korea

Correspondence Joon Soo JS Lee ,Email: joonsl96@yumc.yonsei.ac.kr

Abstract

Neurofibromatosis(NF) is an autosomal dominant disorder, probably of neural crest origin that affects all three germinal layers. It is a group of heterogeneous multisystemic neurocutaneous disorders involving both neuroectodermal and mesenchymal derivatives. Type 1(von Recklinghausen disease) is the most common neurocutaneous disorder among the eight subtypes. Previous reports showed various involvements in the renal organ. Renovascular hypertension is the most common major manifestation of renal involvement in this disease. However, we experienced a case of ectopic kidney concurrent with neurofibromatosis type 1. The diagnosis of neurofibromatosis had been made by typical skin manifestation on physical examination, and ectopic kidney was discovered accidentally during routine abdominal sonography. The etiological basis of this association is not clear. We report a rare case of coexisting neurofibromatosis and ectopic kidney in a 7-year-old girl with a brief review.

Keywords :Neurofibromatosis , Ectopic kidney