Coexistence of Ehlers-Danlos syndrome and multiple sclerosis- Term life


A 26-year-old male patient was admitted to our outpatient clinic with complaints of numbness and weakness in his left arm and leg. These complaints had started about 10 days ago and were continuing. From his personal history, it was found out that he had been followed up with the diagnosis of Ehlers-Danlos syndrome (EDS) hypermobile tip for 10 years, and that he had had low vision in his left eye lasting for 15 days, but he had not consulted a physician for this complaint.

After 1 year had passed from the complaint of blurred vision, he had had a plaques (Figure 2). His cervical MRI revealed several centrally-located, ovoid-shaped lesions aligned with C2-C3-C4 segments, which are consistent with demyelinating plaques. His thoracic MRI was considered to be normal. For the patient, who had blurred vision, a visual evoked potential (VEP) test was performed. p100 wave latency was lengthened for both VEP systems (right: 136, left: 132). Brainstem auditory evoked potential examination was normal. ANA, anti-dsDNA, Anti-cardiolipin IgG and IM, Homocysteine, Lupus Anticoagulant, Protein C, Protein S, Prothrombin II gene mutation, Factor 5 leiden mutation investigations revealed no significant pathologies. The patient was evaluated according to McDonald’s criteria, an acute multiple sclerosis (MS) episode was considered, and pulse steroid therapy was prescribed for 10 days. Following the treatment, his symptoms at admission were recovered. He is now being followed up by our outpatient clinic.

when a synthesis defect occurs in their synthesis.4,5 ECM proteins are produced by oligodendrocytes and astrocytes in the central nervous system, and were observed to be associated with the astroglial response in the MS lesions. According to a hypothesis, it can show effects on connective tissues and at the vascular level. Changes in the ECM proteins such as collagen and tenascin which are present in the blood vessel walls can cause myelin destruction by increasing the migration of the immune cells to the central nervous system. According to another hypothesis, MS-EDS association may be due to a suspicious gene. There may be a polygenic effect in MS, and one of these mutations may cause EDS. There are some points to be considered in the treatment of MS and EDS. These patients, who undergo physiotherapy due to MS, strong passive exercises can trigger pain or cause joint dislocations. Neck extension should be avoided to prevent carotid artery dissection.2

In our case, we discuss a rare association in terms of their underlying mechanisms and of the points to be considered in the treatment.

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fig 1

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fig 2

Conflict of Interests
The authors declare no conflict of interest in this
We acknowledge our patients who have participated in the study.

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