Clinical and molecular features of first two-sibling-Cambodian girls with musculocontractural Ehlers-Danlos syndrome

Chean Sophal; Try Lytheang; Arthaporn Khongkraparn; Thipwimol Tim-Aroon; Nongnuch Sirachainan

doi:10.18203/2349-3291.ijcp20242343

Authors

Chean Sophal Department of Paediatric Haematology and Immunology, National Paediatric Hospital, Phnom Penh, Cambodia
Try Lytheang Department of Paediatric Haematology and Immunology, National Paediatric Hospital, Phnom Penh, Cambodia
Arthaporn Khongkraparn Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Thipwimol Tim-Aroon Division of Medical Genetics, Department of Paediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Nongnuch Sirachainan Division of Haematology and Oncology, Department of Paediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

DOI:

https://doi.org/10.18203/2349-3291.ijcp20242343

Keywords:

McEDS, Ehlers-Danlos syndrome musculocontractural type, CHST14, Subcutaneous hematoma

Abstract

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder. To our knowledge, mcEDS has not previously been reported in Cambodia. Here, we report clinical presentations and a novel variant of CHST14 causing mcEDS in the two siblings in Cambodia. These patients from a non-consanguineous parents presented with clubfeet at birth, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. The elder sister had severe phenotypic features than the younger sister. They have been prone to ecchymosis and hematomas with minor accidents since young age, without accurate diagnosis, or confused with von-willebrand disease. Genetic consultation and confirmed by a genetic analysis revealed a novel variant, c.994-997dup, (Pro333Glnfs×23) of CHST14. Treated with oral desmopressin and daily vitamin C supplementation over 1-year-period of follow-up, the bleeding has been improved. The purpose of this article is to describe the clinical and molecular features and to show the missed or inaccurate diagnosis of this rare syndrome, which, consequently, results in suboptimal symptomatic management.

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