Open AccessPseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported
Author(s) -
Yosra Zaimi,
Myriam Ayari,
A. Mensi,
Linda Bel Hadj Kacem,
Leila Achouri,
M. Bouzrara,
Yosra Saïd,
Leïla Mouelhi,
Radhouane Debbeche
Publication year - 2021
Publication title -
application of clinical genetics
Language(s) - English
Resource type - Journals
ISSN - 1178-704X
DOI - 10.2147/tacg.s306298
Subject(s) - meigs' syndrome , frameshift mutation , medicine , exon , pathology , ascites , ovary , hydrops fetalis , hypertrichosis , gastroenterology , gene , biology , genetics , pregnancy , gestation
H syndrome is an extremely rare autosomal recessive affection caused by biallelic mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter hENT3. The hallmark signs are cutaneous consisting of hyperpigmentation and hypertrichosis patches. Besides, associated systemic manifestations are highly various reflecting phenotypic pleiotropism. Herein, we report a first case of pseudo-Meigs' syndrome occurring in a young Tunisian H syndrome diagnosed patient with a novel homozygous frameshift mutation in exon 2 of the SLC29A3 gene: p.S15Pfs*86 inducing a premature stop codon. The patient developed ascites associated with left ovarian mass and she underwent surgery. After tumor resection, ascites disappeared rapidly. Histological examination showed serous cystadenoma of the ovary orienting the diagnosis towards pseudo-Meigs' syndrome.