ABSTRACT
Background: Vulpian-Bernhardt syndrome is an atypical form of the motor neuron disease described since the 19th century. The importance of a timely diagnosis lies in the increased survival present in this variant. Due to the clinical rarity and complex diagnosis we report a clinical case of this disease, which is why we describe the typical clinical presentation, the diagnostic approach, and we make a bibliographic review of this neurodegenerative disorder as well. Clinical case: Latin American man whose clinical case onset was characterized by thoracic asymmetric and increasing limb weakness, showing affection from distal to proximal upper limbs area. Subsequently, symptoms worsened to the point of limiting day-to-day activities and conditioning patient's physical independence. Physical examination was consistent with motor neuron disease. Nerve conduction studies were performed and confirmed findings compatible with motor neuron involvement limited to thoracic limbs. Conclusion: Vulpian-Bernhardt syndrome is an uncommon form of motor neuron disease. Due to the rarity of its presentation, it is frequent to confuse clinical profile even for trained physicians. The importance of electrodiagnosis relies in identifying the neurogenic origin of the disease, as well as the active denervation and reinnervation data. Considering that with this syndrome patients have a longer survival than with the classic form of amyotrophic lateral sclerosis, it is important to have a clear diagnosis approach in order to provide a better quality of life and supportive treatment.
Introducción: el síndrome de Vulpian-Bernhardt es una forma atípica de la enfermedad de la motoneurona descrita desde el siglo XIX. La importancia de un diagnóstico oportuno radica en la mayor supervivencia que presenta esta variante. Debido a la rareza clínica y al diagnóstico complejo presentamos un caso clínico de esta enfermedad, por lo que describimos el cuadro clínico típico, el abordaje diagnóstico y hacemos una revisión bibliográfica de este trastorno neurodegenerativo. Caso clínico: hombre de origen latinoamericano que comenzó su padecimiento con debilidad de miembros torácicos, asimétrica y progresiva de distal a proximal. Los síntomas progresaron hasta limitar sus actividades de la vida diaria y su independencia física. La exploración física fue compatible con enfermedad de motoneurona. Se hicieron estudios de extensión y neuroconducción que confirmaron hallazgos compatibles con afectación en motoneurona limitada a miembros torácicos. Conclusión: el síndrome Vulpian-Bernhardt es una forma clínica poco común. Debido a su rareza, es fácil confundir el cuadro clínico, incluso por parte de experimentados. La importancia del electrodiagnóstico radica en identificar el origen neurogénico de la enfermedad, los datos de denervación activa y reinervación. Al ser una forma en la que se presenta una supervivencia mayor que en la forma clásica, es importante el diagnóstico claro para dar una mejor calidad de vida y tratamiento de soporte.
Subject(s)
Amyotrophic Lateral Sclerosis , Humans , Amyotrophic Lateral Sclerosis/diagnosis , Male , Electrodiagnosis , Middle AgedABSTRACT
BACKGROUND: Diabetic peripheral neuropathy (DPN) is the most common complication of type 2 diabetes mellitus (T2DM); its diagnosis and treatment are based on symptomatic improvement. However, as pharmacological therapy causes multiple adverse effects, the implementation of acupunctural techniques, such as electroacupuncture (EA) has been suggested as an alternative treatment. Nonetheless, there is a lack of scientific evidence, and its mechanisms are still unclear. We present the design and methodology of a new clinical randomized trial, that investigates the effectiveness of EA for the treatment of DPN. METHODS: This study is a four-armed, randomized, controlled, multicenter clinical trial (20-week intervention period, plus 12 weeks of follow-up after concluding intervention). A total of 48 T2DM patients with clinical signs and symptoms of DPN; and electrophysiological signs in the Nerve Conduction Study (NCS); will be treated by acupuncture specialists in outpatient units in Mexico City. Patients will be randomized in a 1:1 ratio to one of the following four groups: (a) short fibre DPN with EA, (b) short fibre DPN with sham EA, (c) axonal DPN with EA and (d) axonal DPN with sham EA treatment. The intervention will consist of 32 sessions, 20 min each, per patient over two cycles of intervention of 8 weeks each and a mid-term rest period of 4 weeks. The primary outcome will be NCS parameters, and secondary outcomes will include DPN-related symptoms and pain by Michigan Neuropathy Screening Instrument (MNSI), Michigan Diabetic Neuropathy Score (MDNS), Dolour Neuropatique Score (DN-4), Semmes-Westein monofilament, Numerical Rating Scale (NRS) for pain assessment, and the 36-item Short Form Health Survey (SF-36). To measure quality of life and improve oxidative stress, the inflammatory response; and genetic expression; will be analysed at the beginning and at the end of treatment. DISCUSSION: This study will be conducted to compare the efficacy of EA versus sham EA combined with conventional diabetic and neuropathic treatments if needed. EA may improve NCS, neuropathic pain and symptoms, oxidative stress, inflammatory response, and genetic expression, and it could be considered a potential coadjutant treatment for the management of DPN with a possible remyelinating effect. TRIAL REGISTRATION: ClinicalTrials.gov. NCT05521737 Registered on 30 August 2022. International Clinical Trials Registry Platform (ICTRP) ISRCTN97391213 Registered on 26 September 2022 [2b].
Subject(s)
Acupuncture Therapy , Diabetes Mellitus, Type 2 , Diabetic Neuropathies , Electroacupuncture , Humans , Diabetic Neuropathies/therapy , Electroacupuncture/methods , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/therapy , Quality of Life , Randomized Controlled Trials as Topic , Multicenter Studies as TopicABSTRACT
BACKGROUND: Dermatomyositis belongs to an infrequent group of diseases predominantly found in patients older than 40 years old and is characterized by dermal and muscular findings. This disease presents itself as proximal, ascending and symmetric weakness and typical dermatosis with findings such as elevated muscle enzymes, altered electromyography and typical changes in muscle biopsy; as of today, the etiology of the disease in unknown. The COVID-19 vaccine has been a fundamental tactic to achieve control of the coronavirus (SARS CoV2), and it's clear that the benefits of getting the vaccine overweight the risks that might come along with it. Although rare, all adverse effects should be reported, this could help us to understand the elusive pathophysiology of inflammatory idiopathic myopathy. CASE PRESENTATION: In this text we will describe the case of a patient with dermatomyositis who was vaccinated against SARS CoV2 with BNT162b2 mRNA (Pfizer-BioNTech), showing a temporal relation between the vaccination and the beginning of her symptoms. We realized all the diagnostic approach to the suspected disease including electromyography, muscle biopsy and laboratory findings, corroborating the diagnosis. The patient received standard treatment for this disease (steroid therapy) and have a classic slow improvement. CONCLUSIONS: Although it´s not possible to confirm a direct correlation between the vaccine and the onset of the disease, we considered that there are enough data to suspect that this could be a trigger event and therefore should always be considered a possible cause for a case of inflammatory idiopathic myopathy.