Sudomotor dysfunction in patients with gluten neuropathy

Background and aim Gluten neuropathy (GN) is a common neurological manifestation of gluten sensitivity (GS), characterized by serological evidence of GS, while other risk factors for developing neuropathy are absent. The degree of small fiber dysfunction in GN has not been studied in depth to date. Small fiber involvement may lead to pain, thermal perception abnormalities, and sweat gland dysfunction. Sudomotor innervation refers to the cholinergic innervation of the sympathetic nervous system through small fibers in the sweat glands. The aim of our study was to assess the sudomotor function of GN patients. Methods Patients with GN were recruited. Clinical and neurophysiological data were obtained. HLA-DQ genotyping was performed. The skin electrochemical conductance (ESC) was measured with SUDOSCANTM. Results Thirty-two patients (25 males, mean age 69.5±10.2 years) were recruited. Thirteen patients (40.6%) had abnormal sudomotor function of the hands. Sixteen patients (50%) had abnormal sudomotor function of the feet. Twenty-one patients (65.6%) had abnormal sudomotor function of either the hands or feet. Sudomotor dysfunction did not correlate with the type of neuropathy (length-dependent neuropathy or sensory ganglionopathy), gluten-free diet adherence, severity of neuropathy, and duration of disease or HLA-DQ genotype. No differences in the ESC were found between patients with painful and patients with painless GN. Conclusion Sudomotor dysfunction affects two-thirds of patients with GN. The lack of correlation between pain and sudomotor dysfunction suggests different patterns of small fiber involvement in patients with GN.

Progressive Numbness, Burning Pain, Imbalance, and Dryness

A 65-year-old woman was evaluated for progressive numbness and tingling involving different body parts. Onset was with her right foot. Numbness and paresthesia progressed to her left hand and then left foot. Numbness and tingling of her right hand also developed. Progressive gait instability also developed, leading to frequent falls. She started using a cane to walk. She also reported severe dry eyes and mouth and noticed an inability to sweat in hot weather. Her neurologic examination showed pseudoathetosis with eye closure and sensory gait ataxia. She had profound vibration and proprioceptive loss in all extremities (lower extremities greater than upper extremities). She also had asymmetric reduction in pinprick sensation in her hands and feet distally. She had minimal distal weakness involving her toes and upper extremities. Her deep tendon reflexes were reduced in the upper limbs and absent in the lower limbs. Toes were downgoing to plantar stimulation. Nerve conduction studies demonstrated asymmetric, sensory-predominant, axonal peripheral neuropathy with absent left median and ulnar sensory responses and relatively preserved (reduced) right median and ulnar sensory responses. Bilateral sural sensory responses were absent. Motor responses were relatively preserved. Cerebrospinal fluid analysis showed mildly increased protein concentration, and 5 cerebrospinal fluid-restricted oligoclonal bands. Thermoregulatory sweat testing showed anhidrosis involving the proximal limbs and the trunk and hypohidrosis of the forehead and distal extremities. Serum laboratory investigations identified an increased erythrocyte sedimentation rate. Serologic testing was remarkable for positive antinuclear antibody, rheumatoid factor, and Sjögren syndrome-A antibody. Chest computed tomography showed a nonspecific solitary nodule in the right upper lobe but was otherwise normal. The patient was diagnosed with Sjögren sensory ganglionopathy (or neuronopathy). The patient received a 12-week course of intravenous methylprednisolone. She was also started on mycophenolate mofetil. Two weeks later, the mycophenolate mofetil dose was increased. At follow-up 4 months later, she reported improvement in neuropathic pain, but the sensory loss and ataxia continued to be treatment refractory. The presence of sicca symptoms (dry eyes and mouth), polyarthralgias, morning stiffness, and anti-Ro antibody seropositivity were supportive of a Sjögren syndrome diagnosis. Sjögren syndrome has been associated with various neuropathic presentations. Sensory ganglionopathy in Sjögren syndrome usually presents with asymmetrical sensory loss, neuropathic pain, sensory ataxia, and sometimes pseudoathetosis, which were presenting features in this case patient.

EP30 Sensory ganglionopathy as a possible presenting feature of Sjögren’s syndrome

Case report - Introduction Primary Sjögren’s syndrome is a systemic autoimmune disease affecting the exocrine glands, commonly resulting in dryness of mouth and eyes. It can also rarely present with neurological symptoms most commonly peripheral neuropathies. The case highlights a rare case of sensory and motor neuropathy with some features suggestive of Sjögren’s syndrome as an underlying diagnosis. Case report - Case description A 54-year-old Caucasian lady was transferred from a local hospital for specialist neurology care. She described widespread paraesthesia over two months progressing to lower limb weakness worsening over a two-day period. Her symptoms further progressed to involve her arms and new blurred vision. On further questioning she reported previous severe mouth ulcers, possible genital ulcers and painful jaw swelling with long standing history of dry mouth. On thorough neurological examination, the positive findings were mild ptosis of the right eye, paraesthesia on palpation of face, upper limbs had a flaccid tone with reduced power and pseudoathetosis of outstretched arms, reduced proprioception, and absent reflexes. Lower limbs were more affected with worse power and absent proprioception. Schirmer’s test showed normal tear production but saliva production was reduced. MRI brain and spine were reported as pathological enhancement in both optic nerves, no obvious brain parenchymal abnormality, no obvious spinal cord abnormality. Lumbar puncture CSF pro 0.38, white cells 12 (poly 50%, mono 50%), red cells 3700, no organisms on gram stain, opening pressure 21.5 cmH2O. Sural nerve biopsy demonstrated profound loss of sensory axons, severe loss of large myelinated fibres in all fascicles with motor nerve involvement. Muscle biopsy demonstrated chronic neurogenic atrophy. Rheumatology screen showed positive anti Ro 52 antibodies (on an extended myositis screen). EMG demonstrated neurophysiological evidence of widespread marked loss of sensory axons in the upper and lower limbs and partial loss of motor axons in several lower limb territories. USS parotid glands showed some possibly mildly abnormal areas, minor salivary gland biopsy was normal. She received methylprednisolone, IV immunoglobulin and two courses of plasma exchange. Given some improvement following this treatment, further immunosuppression was felt to be appropriate. Initially Mycofenolate mofetil was started and Rituximab is now being considered. Case report - Discussion This case demonstrates a mixed neuropathy picture. Following thorough investigations, many differential diagnoses of mixed neuropathy were considered and excluded (e.g. Guillain Barre, Syphilis, MS, HIV, Hepatitis). Neurological symptoms can develop before the onset of sicca symptoms in Sjögren’s syndrome. With a positive Anti Ro52, xerostomia and clinical improvement with methylprednisolone and plasmaphereses it seems likely there is an underlying autoimmune diagnosis in this case and despite a normal biopsy she would meet the 2016 ACR/EULAR classification criteria for Sjögren’s syndrome. Case report - Key learning points Sjögren’s syndrome should be considered as a potential underlying cause in patients with a sensory ganglionopathy. Neurological symptoms can develop before the onset of sicca symptoms in Sjögren’s syndrome.