Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke
Meriem Zahed-Cheikh1, Barthélémy Tosello, Stéphanie Coze
1Department of Neonatologie and #Medical Imaging Service, Assistance Publique-Hôpitaux de Marseille, Hospital Nord, 13015 Marseille, France. Correspondence to: Dr Barthelemy Tosello, Department of Neonatology, Hospital Nord, Chemin des Bourelly, 13015 Marseille, France. Barthelemy.tosello@ap-hm.fr.
Background:
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.
Case Characteristics:
We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis.
Outcome:
Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA.
Message:
Prenatal brain stroke is a rare clinical feature of EDSVIA.
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