Ehlers-Danlos Syndrome, Kyphoscoliotic Type (Formerly Type VI) as Differential Diagnosis to Neuromuscular Diseases

Background: a differential diagnosis to neuromuscular diseases is Ehlers-Danlos syndrome (EDS) kyphoscoliotic form (formerly type VI; OMIM 225400). Patients present with pronounced muscular hypotonia, delay of motor development, kyphoscoliosis, velvet skin texture and tall stature due to a rare autosomal recessive disorder of collagen metabolism with mutation in PLOD1 gene. We demonstrate the clinical course of a patient with 6 to 24 months.

Case Report: We present an infant with the age of 6 months at the first consultation with the aspect of a floppy infant, joint hypermobility, congenital kyphoscoliosis and tall stature. Within 18 months an improvement of hypotension and gross motor functions was seen. At the age of 30 months walking alone was possible. Bracing of ankle and spine was necessary in the second year of life. In genetic study EDS, kyphoscoliotic form, was proved by mutation analysis in PLOD1 gene.

Conclusion: Children with EDS may present postnatal with pronounced muscular hypotension with the aspect of a floppy infant. By recognizing the characterized symptoms, misinterpretation as a neuromuscular disease, which may lead to delayed diagnosis or invasive procedures like muscle biopsy, can be avoided. Simple testing of ratio of pyridinoline in urine or genetic testing of PLOD1 is available.