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Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.

ABSTRACT: 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.

SUBMITTER: Zaimi Y

PROVIDER: S-EPMC8055247 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Pseudo-Meigs' Syndrome in Tunisian H Syndrome Female Patient: First Case Reported.

Zaimi Yosra Y Ayari Myriam M Mensi Asma A Bel Hadj Kacem Linda L Achouri Leila L Bouzrara Meriem M Said Yosra Y Mouelhi Leila L Debbeche Radhouane R

The application of clinical genetics 20210415

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 homo ...[more]

PMID: 33883924

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