Rainer Maag

Harlequin syndrome - one face of many etiologies

Background A 55-year-old woman presented to hospital with a 3-month history of asymmetric facial flushing of the skin during exertion, and an 18-month history of left-sided ptosis and miosis. Detailed medical history analysis revealed that a palpable node measuring 0.8 × 1.2 × 1.2 cm (volume 1.1 ml) had been discovered 2 years previously, within the left lobe of an otherwise uncomplicated goiter that had been successfully managed for 20 years. Otherwise, the patient was healthy.Investigations Neurological examination, autonomic testing, duplex ultrasonography, scintigraphy and MRI.Diagnosis Harlequin syndrome following a lesion of the preganglionic sympathetic efferents, caused by neurovascular compression of the sympathetic chain between the stellate and superior cervical ganglion brought about by an elongated inferior thyroid artery.Management Explanation of pathophysiology and benign nature of the condition.

Detection of a Characteristic Painful Neuropathy in Fabry Disease: A Pilot Study

OBJECTIVE Fabry disease (FD) is an X-linked lipid storage disorder showing a high prevalence and early occurrence of painful neuropathy. Early detection of this likely underdiagnosed disease is an important approach because a causal therapy is available. DESIGN We used a quantitative sensory testing to determine the detailed somatosensory profile of male Fabry patients and compare this profile with somatosensory profiles of other painful sensory neuropathies (SN). RESULTS Within this pilot-study, the profile revealed a small-fiber sensory neuropathy selectively affecting C- and A-delta fibers. The comparison with different somatosensory profiles of painful SN, including painful small-fiber sensory neuropathies of other etiologies, showed that the FD profile differs significantly and is characterized by a severe impairment of thermal and preserved vibratory and mechanical discrimination. CONCLUSION Thus, somatosensory profiling in male patients with painful extremities may be useful in the detection of FD.

The relation between small nerve fibre function, age, disease severity and pain in Fabry disease

Background: Small fibre neuropathy supposedly causes pain in Fabry patients, but the relationship between small nerve fibre function and pain severity is unclear.BACKGROUND Small fibre neuropathy supposedly causes pain in Fabry patients, but the relationship between small nerve fibre function and pain severity is unclear. METHODS A cohort of 15 male and 33 female Fabry patients was studied making use of a quantitative sensory testing protocol, disease severity measures and pain scales to investigate the relationship between nerve fibre function, age, disease severity and pain intensity. RESULTS Male Fabry patients exhibited an abnormal cold detection threshold and thermal sensory limen at the upper and lower limb, indicating Aδ-fibre hypofunction. Female patients showed Z-scores within normal range for all modalities. Nerve fibre function was worse at older age and with more severe disease. The overall severity of pain was mild, without significant differences between males and females. No linear relationship between pain severity and small nerve fibre function was identified. CONCLUSIONS In Fabry disease, no linear relationship exists between pain and small nerve fibre function. With older age and more severe disease pain may abate as nerve fibre function further deteriorates.

281 Characteristic sensory profile in Fabry patients

DRUG SELECTION ALGORITHM FOR LONG TERM INTRATHECAL THERAPY IN THE MANAGEMENT OF NEUROPATHIC PAIN G. Cerdá-Olmedo , M.L. Franco-Gay , J. InsaustiValdivia , M.D. López-Alarcón , J.M. LópezMillán * , S. Moliner-Velazquez , V. MonsalveDolz , L.A. Moreno , J. Pérez-Cajaraville , M. Tió-Felip , E. Uriaqrte-Brizuela c a Hospital General Universitario De Valencia, Spain b Hospital De Cruces De Bilbao, Spain c Hospital Universitario Severo Ochoa De Leganés, Madrid, Spain d Hospital Universitario Virgen Macarena De Sevilla, Spain e Hospital Clı́nico De Barcelona, Spain f Clı́nica Universitaria De Navarra, Pamplona, Spain

Pathophysiologie neuropathischer Schmerzen

ZusammenfassungNeuropathische Schmerzen sind Syndrome, die aufgrund einer Schädigung des nozizeptiven Systems entstehen; sowohl Läsionen an peripheren Neuronen als auch an zentralnervösen Strukturen können eine neuropathische Schmerzsymptomatik auslösen. Die zugrunde liegenden Schädigungsmechanismen sind vielfältig: mechanische, metabolische, toxische oder entzündliche Traumen verursachen eine biochemische, morphologische und physiologische Veränderung der betroffenen Neuronen. Pathophysiologische Vorgänge wie die periphere und zentrale Sensibilisierung sowie die folgende Degeneration des inhibitorischen Systems führen im Weiteren häufig zu einer Schmerzchronifizierung. Diese Veränderungen können mit der Zeit irreversibel werden und trotz Gewebeheilung fortbestehen. Wichtig bei neuropathischen Schmerzen, die sich klinisch charakteristischerweise durch brennende Spontanschmerzen, einschießende Schmerzattacken und evozierte Schmerzen darstellen, ist somit neben einer kausalen Therapie auch eine symptomatische, medikamentöse Behandlung, die in die pathophysiologischen Prozesse eingreift.AbstractNeuropathic pain syndromes are generated by the impairment of nociceptive pathways. Both lesions of the peripheral and central nervous system may cause such pain. There are multifarious damage mechanisms: mechanical, metabolic, toxic or inflammatory injuries lead to biochemical, morphological and physiological changes of the affected neurons. Pathophysiological processes, such as peripheral and central sensitization, as well as degeneration of the inhibitory system, often result in neuropathic pain becoming chronic. These changes may become irreversible with time and persist in spite of the healing of the injured tissue. Neuropathic pain syndromes are clinically characterized by spontaneous pain (ongoing, paroxysms) and evoked types of pain (hyperalgesia, allodynia). An important aim in addition to causal treatment is symptomatic pain therapy, which inhibits the pathophysiological processes of pain.

217 Differential coding of cold allodynia a FMRI study

An important determining role for spinal cord injury (SCI) physical factors, such as dermatomal level and completeness of central lesion, on the development of neuropathic pain (NP) has been identified (Siddall et al., Pain 1999; 81(1–2):187–197). Here we examine the impact of thoracic versus cervical SCI on at and below spontaneous pain, psychophysical sensory responses to tonic thermal testing and pain-related cognitive-behavioural strategies up to 12 months after SCI. Following informed consent and approval by the local ethical committee, a total of 30 patients with SCI-NP were recruited. Neurological SCI examination was performed according to the standard SCI ‘‘ASIA’’ scale. A 7-day spontaneous pain intensity and dermatomal analysis was recorded at 2, 3, 4, 6 and 12 months post-SCI, while the sensory response to the application of a 10–30 s thermal stimuli at 48 C at the level of the injury was assessed at 4 months. The multidimensional pain inventory -spinal cord injury version (MPI-SCI) and coping strategies questionnaire revised version (CSQ-R) were used to identify cognitive-behavioural strategies against pain. Patients with thoracic SCI experienced a greater increase in at-level spontaneous pain and involved dermatomes and a rapid and higher pain sensibility to tonic heat stimuli. In general patients with thoracic SCI-NP perceived higher levels of Interference, Life Control, Distraction, Solicitous Responses and Support. These preliminary results suggest that specific physical factors should be taken into account in the early diagnosis and treatment of SCI-NP.

473 SKIN TEMPERATURE DIFFERENCES IN CRPS AND HEALTHY CONTROLS

Later the intradural tumor (haemangiopericytoma) under C8 root right was diagnosed and removed. Patient No. 3 ([posterior] tibial nerve) and patient No. 4 (common peroneal nerve): Both patients had history of rectal carcinoma. They suffered with problems mimicking peripheral nerve entrapment neuropathy. The metastasis of carcinoma in the pelvis was established later. Conclusions: We have to keep on mind the malignant disease in a patient’s history and exclude malignant origin of his/her problems, especially when it can avoid unnecessary operations.

461 SPECIFIC SENSORY PROFILE IN FABRY PATIENTS WITH NEUROPATHIC PAIN

Background and Aims: Patients with failed back surgery syndrome (FBSS) continue to experience persistent or recurrent pain, disability and reduced quality of life despite anatomically successful lumbosacral spine surgery. The aim of this randomised controlled trial was to evaluate the clinical (and cost-) effectiveness of the addition of spinal cord stimulation (SCS) to conventional medical management (CMM) of patients with FBSS. Methods: 100 patients suffering from persistent neuropathic pain predominantly in the legs were randomised to receive SCS utilising the SynergyTM neurostimulator (Medtronic Inc, Minneapolis) plus CMM or CMM alone. Patients in either group received appropriate adjuvant therapy (excluding spinal surgery or intrathecal drug delivery) and were followed up to 24months, with crossover after the 6-month visit upon patient request. Pain relief (>50% change on VAS), functional capacity (Oswestry), health related quality of life (HRQoL assessed by Short-Form 36), patient satisfaction and adverse effects were assessed at each study visit. Results: In an intention to treat analysis at 6-months, patients randomised to SCS experienced the following improvements when compared to CMM alone: significantly more leg pain relief (P = 0.0001), improved functionality (P = 0.0002), improved HRQoL in 7 out of 8 domains (0.02> P >0.0002) and greater satisfaction in their treatment (P< 0.0004). Fourteen (29%) of the 48 patients who received a stimulator had a complication that required additional surgery. Conclusions: Compared to CMM alone, SCS improves pain relief, healthrelated quality of life and functionality in predominantly neuropathic FBSS patients at 6 months. The 12-month follow up will be completed in July 2006.