. 2022; 9(3): 297-301 | |||
A life-threatening complication in a patient with Ehlers-Danlos Syndrome musculocontractural typeTuğba Daşar1, Sandra Donkervoort2, Pelin Ozlem Simsek-Kiper1, Rahsan Gocmen3, Gülen Eda Utine1, Koray Boduroglu1, Carsten Bonnemann2, Goknur Haliloglu41Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey2Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, USA 3Department of Radiology, Hacettepe University, Ankara, Turkey 4Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey Ehlers Danlos syndrome musculocontractural type (mcEDS) is a rare hereditary connective tissue disorder caused by biallelic pathogenic variants in CHST14 or DSE genes resulting in defective dermatan sulfate biosynthesis. It is characterized by congenital malformations and contractures, distinctive facial features and multisystemic fragility-related complications. To date, less than 100 patients with mcEDS have been reported. Vascular complications remain the major morbidity and may lead to mortality in the affected individuals. In this clinical report, we report on a currently 12-year-old boy with a novel homozygous CHST14 variant who presented with typical mcEDS symptoms and subsequently developed a life-threatening subcutaneous skull hematoma following a minor trauma, which required intensive care unit admission and surgical drainage along with several blood transfusions. This case expands the clinical and genetic spectrum of CHST14-related mcEDS which is essential for providing accurate prognosis, management and genetic counseling. Keywords: EDS, Ehlers-Danlos syndrome musculocontractural type, CHST14, DSE, subcutaneous hematomaTuğba Daşar, Sandra Donkervoort, Pelin Ozlem Simsek-Kiper, Rahsan Gocmen, Gülen Eda Utine, Koray Boduroglu, Carsten Bonnemann, Goknur Haliloglu. A life-threatening complication in a patient with Ehlers-Danlos Syndrome musculocontractural type. . 2022; 9(3): 297-301 Corresponding Author: Tuğba Daşar, Türkiye |
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