Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing

Hizem, Syrine; Elaribi, Yasmina; Slama, Sana Ben; Dimassi, Kawther; Jilani, Houweyda; Rejeb, Imen; Sebai, Molka; Bekri, Soumeya; Jemaa, Lamia Ben

doi:10.1016/j.cca.2020.12.027

Cited by 2 publications

(2 citation statements)

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“…We reported that the mean GA at the diagnosis of primary FHT was 27.5 ± 5.6 weeks in 287 cases. 14 We also reported that pleural effusion appeared at 29.2 ± 3.7 weeks in 91 fetuses with trisomy 21. 15 Therefore, the onset of fetal pleural effusion in the MPS-VII-associated cases was very early in comparison to primary FHT or trisomy 21-associated FHT.…”

Section: Discussionmentioning

confidence: 67%

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Clinical features of fetal hydrothorax associated with mucopolysaccharidosis‐VII

Kamihara

Ozawa

Muromoto

et al. 2023

J of Obstet and Gynaecol

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Mucopolysaccharidosis (MPS)‐VII, called Sly disease, is a lysosomal storage disorder that can cause fetal hydrops, including fetal hydrothorax (FHT). We describe two fetal cases that received thoracoamniotic shunting for FHT, which was later found to be associated with MPS‐VII by exome sequencing. Bilateral FHT accompanied by skin edema and ascites was found before 20 weeks of gestation in both cases. One fetus died in utero at 35 weeks of gestation, and the other survived with preterm delivery at 30 weeks of gestation. Both cases inherited compound pathogenic variants of GUSB from parents. Comparison with previously reported primary FHT cases revealed distinct clinical features in MPS‐VII‐associated FHT: early gestational age at diagnosis (<26 weeks), bilateral effusion, skin edema with ascites, and poor survival. A genetic analysis would be considered for FHT cases, with consideration of shunting when they show early‐onset bilateral effusions with skin edema and ascites.

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Section: Discussionmentioning

confidence: 67%

“…All FHT cases associated with MPS‐VII were diagnosed with pleural effusion in the second trimester at a mean GA of 19.7 ± 3.3 weeks. We reported that the mean GA at the diagnosis of primary FHT was 27.5 ± 5.6 weeks in 287 cases 14 . We also reported that pleural effusion appeared at 29.2 ± 3.7 weeks in 91 fetuses with trisomy 21 15 .…”

Section: Discussionmentioning

confidence: 75%