Familial case study: a recurrent metabolic disease in a Tunisian family

Nadia Ben Jamaa, Tanya Kitova, Moez Ben Amara, Denis Milkov, Dorra Zghal, Sami Jabnoun, Mohamed Yacoubi, Mahdi Khila, Imen Kessibi, Samia Kacem, Faouzia Zouari, Soumeya Siala-Gaigi, Aida Masmoudi


We report a recurrent case of Sly syndrome in a Tunisian family. The mother was a 32 years old, parity three, five gestations, from a first-degree consanguineous marriage. Her first pregnancy was a miscarriage; the second gave a healthy child. The other three pregnancies resulted with a medical termination due to hydrops fetalis.

The histological placental examination of the first two fetuses found cytoplasmic vacuolization affecting the trophoblast and Hofbauer cells (Hale coloration). The prenatal diagnosis by amniocentesis of the third pregnancy revealed a high level of glycosaminoglycans with a predominance of chondroitin sulfates in electrophoresis confirming the diagnosis of Sly disease.

Conclusion: The histological examination of the placenta is essential to the biological and genetic examination, the basis for the diagnosis of Sly disease and further genetic counseling.


Mucopolysaccharidosis VII; Sly syndrome; Hofbauer cells; placenta; hydrops fetalis

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