Electrophysiological findings in a case of congenital lower limb hypoplasia

Limb hypoplasia is a rare congenital disorder. Is usually encountered in patients with segmental spinal dysplasia (SSD), in progressive facial hemiatrophy (Parry-Romberg syndrome) and in other rare conditions. We performed an extensive electrophysiological study in a 18-year-old female with congenital left lower limb hypoplasia, but with no motor and sensory deficit. Electrophysiological investigation comprised motor and sensory nerve conduction velocities, needle EMG, quantitative sensory studies and SEP with standard techniques. The study showed markedly involved large diameter peripheral sensory nerve fibers and intact motor and small diameter peripheral sensory nerve fibers. Extensive electrophysiological investigation in cases of limb hypoplasia has not been previously performed. In this patient congentital hypoplasia of the muscles also involved the peripheral large diameter sensory nerve fibers. © Springer-Verlag Italia 2008

Concurrent bilateral projection and activation of motor cortices in a patient with congenital mirror movements: A TMS study

Objectives: Mirror movements (MMs) are unintended and unnecessary movements accompanying voluntary activity in homologous muscles on the opposite side of the body, particularly in distal arm muscles. Congenital MMs may be sporadic or familial. Several mechanisms have been proposed to explain persistent congenital MMs. Hypothesis 1 assumes the existence of an ipsilateral corticospinal pathway, and Hypothesis 2 the activation of both motor cortices. We report a new case of congenital mirror movements in a healthy woman. Methods: Electromyographic recordings and focal transcranial magnetic stimulation (TMS) were used for neurophysiological evaluation. Results: Voluntary contraction of either abductor pollicis brevis (APB) elicited mirror activation of the other APB. Focal TMS of either M1 elicited motor evoked potential (MEP) of normal latency and amplitude in both resting APB. TMS of the left cortex upon maximal contraction of the right APB and mirror contraction of the left APB produced interhemispheric inhibition (IHI) in the former and silent period (SP) in the later. Conclusions: The electrophysiological evaluation using transcranial magnetic stimulation provides evidence of the concurrent action of both mechanisms in this patient. Significance: The combination of more than one hypothesis could be more appropriate for understanding the underlying mechanism in some MM cases. © 2010 Elsevier B.V. All rights reserved

Sudomotor dysfunction is associated with foot ulceration in diabetes

To examine the relationship between sudomotor dysfunction and foot ulceration (FU) in patients with diabetes. Ninety patients with either Type 1 or Type 2 diabetes [30 without peripheral sensorimotor neuropathy (PN), 30 with PN but without FU and 30 with FU] were recruited in this cross-sectional study. Assessment of PN was based on neuropathy symptom score (NSS), neuropathy disability score (NDS) and vibration perception threshold (VPT). Sudomotor dysfunction was assessed using the sympathetic skin response (SSR). Cardiac autonomic nervous system activity was assessed by the battery of the classical autonomic function tests. Patients with foot ulcers had longer duration of diabetes, higher values of VPT and NDS and lower values of the autonomic functions tests in comparison with the other study groups. Sudomotor dysfunction and cardiac autonomic neuropathy were significantly more common in the FU group. Multivariate logistic regression analysis after adjustment for gender, body mass index, duration of diabetes and glycated haemoglobin (HbA(1c)) demonstrated that the odds ratio (95% confidence intervals) of FU increased with measures of neuropathy such as NDS >= 6 (10.2, 6.2-17.3) and VPT >= 25 volts (19.8, 9.9-47.5), but was also significantly increased with absent SSR (15.3, 5.3-38.4). Sudomotor dysfunction is associated with increased risk of FU and should be included in the screening tests for identification of diabetic patients at risk of ulceration

Stereoanesthesia or astereognosia?

This case attempts to explicit the importance of clinical examination in the differential diagnosis of two similar clinical entities namely astereognosia and stereoanesthesia. The patient presented below involves a multiple sclerosis patient whose symptoms were considered at first to be a case of astereognosia since she mainly complained of an inability to recognize and name the form and nature of objects by touch. However, a thorough clinical examination and the results of neurophysiological and neuroimaging testing demonstrated that it involved a case of stereoanesthesia due to a demyelinating lesion at the cervical region of the spinal cord. © Springer-Verlag 2009

Superficial siderosis of central nervous system mimicking multiple sclerosis

Introduction: Superficial siderosis of the central nervous system is a neurologic disorder mainly characterized by cerebellar involvement, myelopathy, neurosensory hearing loss, and possibly progressive cognitive impairment. Root avulsion due to traumatic plexus injury has been recognized as an extremely rare cause of hemosiderin deposition on leptomeninges and subpial layers of brain and spinal cord parenchyma. Case Report: A 49-year-old man presented with progressively evolving ataxia and spastic paraparesis. CSF oligoclonal bands were indicative of an underlying inflammatory process and raised the possibility of a demyelinating disorder. However, spinal cord and brain MRI revealed hemosiderin deposition along the entire neuraxis. A rigorous electrophysiologic study confirmed a functional impairment in many different levels of the nervous system. Conclusion: The demonstration of CSF oligoclonal bands in the reported patient implies that inflammation might be involved in the pat ogenesis of superficial siderosis. The diagnosis of this newly recognizable entity needs a high clinical suspicion, but further research is needed to fully elucidate the involved mechanisms. Copyright © 2009 by Lippincott Williams & Wilkins

Polyneuropathy induced by HIV disease and antiretroviral therapy

Objective: To investigate the underlying mechanisms of polyneuropathy induced by HIV infection or antiretroviral drugs. Methods: We tested 100 HIV patients (59 with AIDS). Ninety-three patients received antiretroviral drugs. Forty-four were treated with neurotoxic compounds (ddI, ddC, d4T). Nerve conduction velocities and the sympathetic skin response (SSR) in palms and soles were measured in all patients. In skin biopsies (ankle and thigh), the intraepidermal nerve fiber density (IENFD) and the number of epidermal fibers without contact to the basal membrane (fragments) were quantified using PGP9.5 staining. Results: Severity of the disease (CD4 + count) correlated to conduction velocities of peroneal (p < 0.01, Spearmans rank correlation), sural (p < 0.01) and median nerves (p < 0.05/p < 0.001, sensory/motor). In contrast, the duration of neurotoxic treatment did not impair conduction velocities (p > 0.3) but correlated to reduced IENFD in the ankle (r = -0.24, p < 0.05). Despite their reduced IENFD, patients with long neurotoxic treatment had a high number of fragments irrespective of their CD4 + count. Conclusions: Neurotoxic treatment appears to primarily impair thin fiber conduction, whereas HIV neuropathy is linked to large fiber impairment and reduction of fragments of nerve fibers. Significance: These findings emphasize the differential pattern of polyneuropathy in HIV patients caused by the infection or induced by antiretroviral treatment. (C) 2012 International Federation of Clinical Neurophysiology. Published by Elsevier Ireland Ltd. All rights reserved

Distal sensory polyneuropathy in HIV-positive patients in the HAART era: an entity underestimated by clinical examination

The aim of this study was to determine the prevalence of distal sensory polyneuropathy (DSP) in our HIV-positive patients under highly active antiretroviral therapy (HAART) and to investigate correlations with clinical, laboratory and demographic factors. One hundred consecutive HIV-positive patients underwent clinical and electrophysiological evaluation for DSP. Correlations with HIV stage, CD4 count, nadir CD4 count, viral load (VL), disease duration, age, sex and type of antiretrovirals were examined. Thirty-six percent of the patients had DSP (13% clinical, 23% subclinical diagnosed by electrophysiology). The prevalence of DSP was affected in a statistically significant manner by the diagnosis of AIDS (P=0.00033), age (P=0.0102), nadir CD4 count (P=0.0087) and exposure to two neurotoxic antiretrovirals (P=0.0189). Advanced HIV stage, sex, time from diagnosis, current CD4 count and VL did not seem to affect the-prevalence of DSP. Clinical examination plus electrophysiology reveals that DSP affects 36% of patients under HAART, although subclinical in 2/3 of cases. Age, severe prior immunosuppression and the combined use of zalcitabine (ddC), stavudine (d4T) and didanosine (ddI) are important risk factors

Platelet-rich Plasma and Mesenchymal Stem Cells Local Infiltration Promote Functional Recovery and Histological Repair of Experimentally Transected Sciatic Nerves in Rats

Introduction Platelet-rich plasma (PRP) products and mesenchymal stem cells (MSCs) seem to have a significant potential as neurogenic therapeutic modulator systems. This study aimed to investigate such biological blood derivatives that could enhance nerve regeneration when applied locally in the primary repair of peripheral nerve transection of an experimental rat model. Methods A total of 42 two-month-old male Wistar rats were divided into three “treatment” groups (control, PRP, and MSCs). All the subjects were operated under anesthesia, and the surgical site was infiltrated with either normal saline, PRP derived from the animal’s peripheral blood, or MSCs derived from the animal’s femoral bone marrow. All three groups were also sub-divided into two sub-groups based on the post-operative administration of Non-steroidal anti-inflammatory drugs (NSAIDs) or not in order to evaluate the effect of NSAIDs on the final outcome. Three months post-surgery, electromyography evaluation of both hind limbs (right operated and left non-operated) was performed. The animals were euthanized, and nerve repair specimens were prepared for histology. Results PRP group had a significant effect (p<0.05) on the sciatic nerve repair when compared with the control group, whereas the MSC group had a positive effect but was not statistically significant (p=0.2). The number of counted neural axons at the area distal to the nerve repair site were significantly repetitive (p<0.05) in both the PRP and MSC groups when compared with the control group. Conclusions Both PRP and MSCs appear to play an essential role in the enhancement of nerve repair in terms of functionality and histology. MSCs group demonstrated a positive effect, whereas the PRP group showed statistically significant better results