Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report.

ABSTRACT:

Introduction

22q13.3 deletion syndrome is a well-known syndrome characterized by typical clinical findings including neonatal hypotonia, absent or severely delayed speech, intellectual disability, and other various features, and detection of a heterozygous deletion of chromosome 22q13.3 with the involvement of at least part of SHANK3. It is reported that 10% to 29% of patients with 22q13.3 deletion syndrome present lymphedema. Protein-losing enteropathy (PLE) has never been reported in 22q13.3 deletion syndrome.

Patient concerns

The patient presented to our institution for refractory hypoalbuminemia and chronic lymphedema in both legs.

Diagnosis

The patient manifested intellectual disability, absent speech, tooth grinding, dysmorphic face, and abnormal hands and toena

SUBMITTER: Xia S 

PROVIDER: S-EPMC8213278 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature