Essential timing of orthopaedic treatment in children with Ehlers-Danlos syndrome arthrochalasia type: a case report

Lodewijk Van Rhijn,Maarten J Van Rooij,Heleen Staal,Connie T.R.M Stumpel,Merel Klaassens

doi:10.12688/f1000research.3-39.v1

Lodewijk Van Rhijn, Maarten J Van Rooij + Show 3 more

Open Access

https://doi.org/10.12688/f1000research.3-39.v1

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Journal: F1000Research	Publication Date: Feb 6, 2014
License type: CC BY 3.0

Affiliation: Maastricht University Medical Centre

Abstract

Objective: This case report presents the orthopaedic impact of arthrochalasia-type Ehlers-Danlos syndrome (EDS) (former type VIIA and B) in a young girl.Methods: The characteristics of EDSs are skin abnormalities and tissue fragility with orthopaedic consequences including joint hypermobility and dislocations. In EDS arthrochalasia type (former type VIIA and B) severe general hypotonia and congenital bilateral hip dislocation are distinctive symptoms. This type of EDS is less common than other types and just a few cases have been reported.Results: This report describes a case of a 3-year old girl with EDS arthrochalasia type and bilateral high hip dislocation, spontaneous shoulder dislocation and scoliosis as orthopaedic consequences.Conclusions: Orthopaedic consequences in these cases can be severe so conservative or surgical treatment will be necessary to reduce disability in later life. Timing of either conservative or surgical intervention is essential. According to the literature, most conservative treatments fail. Also, surgical treatment is rarely effective in most of the cases. Both conservative and surgical treatment should be considered carefully in the treatment of EDS arthrochalasia type, each of which has pros and cons. The best treatment depends on the prognosis and current situation of the child.

Highlights

Ehlers-Danlos syndrome (EDS) is a well known inherited connectivetissue disorder characterized by general joint hypermobility, tissue fragility and skin abnormalities
EDS arthrochalasia type can be distinguished from other types by the presence of mild dysmorphic features, congenital bilateral hip dislocation, multiple other recurrentdislocations and severe muscular hypotonia. This type of EDS is very rare with only 27 cases described to-date[1]. In this case report the history of a three year old girl with EDS arthrochalasia type is described
EDS arthrochalasia type is caused by mutations in the COL1A1 (OMIM 130060) or COL1A2 (OMIM 130060) gene, which causes

Summary

Introduction

Ehlers-Danlos syndrome (EDS) is a well known inherited connectivetissue disorder characterized by general joint hypermobility, tissue fragility and skin abnormalities. Medical history A 6 year old Caucasian girl, known in the paediatric, clinical genetic and orthopaedic outpatient clinic since birth, was treated for severe skin problems, hyperlaxity of her joints and hypotonia These congenital symptoms were initially thought to be a part of Larsen syndrome, because of the facial features and hypotonia. Follow-up of the patient showed a girl with a progressive equinovarus deformity of both feet (Figure 3–Figure 5) starting at the age of 1 year and 6 months Due to her foot deformity, bilateral hip dislocation and hypotonia it was not possible for the girl to mobilize. Production of low quality type 1 collagen fibers This EDS type distinguishes itself from the other types of EDS by the severity of the congenital bilateral hip dislocations, recurrent subluxations, subtle dysmorphic features, a severe muscular hypotonia, a soft velvety skin that is not hyperextensible and a ‘criss-cross’ patterning of the palms and soles[1,3]. The little knowledge there is on treatment of the upper limbs tells us that neither orthotics nor surgical treatment are effective[5]

Discussion and consideration

Conclusion