%0 Case Reports
%T Lymphedema complicated by protein-losing enteropathy with a 22q13.3 deletion and the potential role of CELSR1: A case report.
%A Xia S
%A Liu Z
%A Yan H
%A Chang K
%A Sun Y
%A Wang J
%A Shen W
%J Medicine (Baltimore)
%V 100
%N 24
%D Jun 2021 18
%M 34128868
%F 1.817
%R 10.1097/MD.0000000000026307
%X <B>BACKGROUND: </B>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.<BR><B>UNASSIGNED: </B>The patient presented to our institution for refractory hypoalbuminemia and chronic lymphedema in both legs.<BR><B>METHODS: </B>The patient manifested intellectual disability, absent speech, tooth grinding, dysmorphic face, and abnormal hands and toenails. Copy-number variation sequencing confirmed the maternal deletion in 22q13.31-q13.33 (chr22:46285592-51244566, hg19). The patient was genetically diagnosed with 22q13.3 deletion syndrome.<BR><B>METHODS: </B>Low-fat diets and medium-chain triglycerides supplements were prescribed. The patient was recommended to wear compression garments and elevate legs.<BR><B>RESULTS: </B>The symptom of diarrhea was resolved, but hypoalbuminemia persisted. Lower extremities lymphedema was gradually becoming severe.<BR><B>CONCLUSIONS: </B>Primary lymphedema and PLE can occur simultaneously in a patient with 22q13.3 deletion syndrome. The 2 phenotypes could share the same genetic etiology of congenital lymphatic abnormalities. CELSR1 deletion may play a role in lymphatic dysplasia. The case also provides additional proof of the pathogenic effect of CELSR1 on hereditary lymphedema.