A novel case with CHST14-related musculocontractural Ehlers-Danlos syndrome

Abstract

Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a relatively newly identified and rare subtype of Ehlers-Danlos syndrome. Multiple congenital contractures, characteristic craniofacial features at birth or in early infancy, and typical cutaneous features are the major criteria for mcEDS. The cause is defects in the synthesis of dermatan sulfate and related proteoglycans, due to biallelic mutations in the CHST14 and DSE genes. In addition to symptoms related to connective tissue, patients may have problems involving various organ systems such as the eye, heart, kidney, brain, and spinal cord. Herein, we present a patient of a 4-year-old girl with mcEDS in whom a novel mutation in the CHST14 gene was identified by whole exome sequencing. The patient presented with hypotonia, motor delay, multipl joint deformities, kyphoscoliosis, and dysmorphic facial features. Initially, she was followed-up with a pre-diagnosis of congenital muscular dystrophy or congenital myopathy. Laboratory investigations revealed mildly elevated serum creatine kinase levels, hydrocephalus, tethered cord, and hydroureteronephrosis. mcEDS manifests itself with hypotonia, arthrogryposis, and motor retardation in newborns and young children, and it may be difficult to differentiate it from congenital neuromuscular disorders. The presence of accompanying typical dysmorphic features and multisystemic involvement should be a warning for the diagnosis of mcEDS.