1. Pseudo-Meigs’ Syndrome in Tunisian H Syndrome Female Patient: First Case Reported
- Author
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Zaimi Y, Ayari M, Mensi A, Bel Hadj Kacem L, Achouri L, Bouzrara M, Said Y, Mouelhi L, and Debbeche R
- Subjects
h syndrome ,slc29a3 gene ,rare disease ,pseudo-meigs' syndrome ,tunisian patient ,Medicine (General) ,R5-920 ,Genetics ,QH426-470 - Abstract
Yosra Zaimi,1 Myriam Ayari,1 Asma Mensi,1 Linda Bel Hadj Kacem,2 Leila Achouri,3 Meriem Bouzrara,4 Yosra Said,1 Leila Mouelhi,1 Radhouane Debbeche1 1Department of Gastroenterology, Charles Nicolle Hospital, Tunis, Tunisia; 2Department of Pathology, Charles Nicolle Hospital, Tunis, Tunisia; 3Department of Oncologic Surgery, University of Tunis El Manar, Tunis, Tunisia; 4Department of Radiology, Charles Nicolle Hospital, Tunis, TunisiaCorrespondence: Myriam AyariDepartment of Gastroenterology, Charles Nicolle Hospital, Boulevard 9 Avril 1938 Bab Saâdoun, Tunis, 1006, TunisiaEmail ayari.myriam@hotmail.frAbstract: 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.Keywords: H syndrome, SLC29A3 gene, rare disease, pseudo-Meigs’ syndrome, Tunisian patient
- Published
- 2021