Evidence of small fiber neuropathy in a patient with Ehlers Danlos syndrome, hypermobility type
http:/dx.doi.org/10.1016/j.clinph.2015.12.004 1388 2457/ 2015 International Federation of Clinical Neurophysiology. Joint hypermobility syndrome (JHS) and Ehlers Danlos syndrome hypermobility type (EDS HT) are two clinically overlapping heritable connective tissue diseases. Their clinical identity has been recently suggested and many researchers are now considering EDS HT and JHS as one and the same (i.e. JHS/EDS HT) (Castori et al. 2013) As the molecular basis of JHS/EDS HT is largely unknown, the diagnosis remains based exclusively on clinical criteria. Generalized joint hypermobility, joint complications and skin hyperextensibility are the major features of JHS/EDS HT and chronic pain, fatigue, headache and dysautonomia represent the major causes of patient disability (Castori et al. 2013; De Wandele et al. 2014) We studied morphology and function of cutaneous sensory and autonomic innervation in a 41 years old male subject with JHS/EDS HT who arrived to our observation for an unbearable neuropathic pain (burning feet) and chronic fatigue. His clinical history retraced the 3 different phases, hypermobility, pain and stiffness, as classically described in typical JHS/EDS HT disease course (Castori et al. 2013) In fact, since childhood he had been suffering of recurrent sprains due to an abnormal ligamentous laxity, followed by development of progressive musculoskeletal pain in adulthood. At the age of 38 years he started to complain of burning pain, unpleasant cold feeling and mechanical allodynia involving distal lower limbs. These symptoms worsened progressively leading to severe sleep disturbance and marked limitation in walking and in daily activities. He also reported post prandial abdominal discomfort, constipation, gastro esophageal reflux, tension type headache and fatigue. For the complex clinical picture he underwent several clinical and instrumental investigations including cerebral and spinal MRI, all unremarkable. At neurological examination we found reduced deep tendon reflexes, diminished muscle bulk, tone and strength and impaired vibratory perception. Gait was slow, unsteady and impossible on heels and toes because of pain. Perception of pin prick and light touchwas impairedwith a symmetrical 'stocking and glove" distribution. Beighton score was 5 out of 9 (hypermobility: scoreP 5) Blood analysis showed normal hepatic, renal, endocrinological, immunologic and metabolic function. Electrodiagnostic evaluation (Supplementary Table S1) (not including needle electromyography, that was refused by the patient) showed only a slight reduction of sural nerve conduction velocity which was however above the normal cutoff after correction for skin temperature (Oh, 2003) Ewing's standard cardiovascular reflex tests (Supplementary Table S2) were unremarkable. The peak to peak amplitude of the sympathetic skin responses (SSR) evoked at feet by electrical
Clinical Neurophysiology