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Orphanet Journal of Rare Diseases May 2024To investigate the peripheral nervous system involvement in sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials...
BACKGROUND
To investigate the peripheral nervous system involvement in sialidosis with typical features of myoclonus, seizure, and giant waves in somatosensory evoked potentials suggesting hyperexcitability in the central nervous system.
METHODS
The clinical presentation of patients with genetically confirmed sialidosis was recorded. Neurophysiological studies, including nerve conduction studies (NCSs), F-wave studies, and needle electromyography (EMG), were performed on these patients.
RESULTS
Six patients (M/F: 2:4) were recruited. In addition to the classical presentation, intermittent painful paresthesia was noted in four patients, and three of whom reported it as the earliest symptom. In the NCSs, one patient had reduced compound muscle action potential amplitudes in the right ulnar nerve, while another patient had prolonged distal motor latency in the bilateral tibial and peroneal nerves. Prolonged F-wave latency (83.3%), repeater F-waves (50%), and neurogenic polyphasic waves in EMG (in 2 out of 3 examined patients) were also noted. Interestingly, a very late response was noted in the F-wave study of all patients, probably indicating lesions involving the proximal peripheral nerve or spinal cord.
CONCLUSION
In addition to the central nervous system, the peripheral nervous system is also involved in sialidosis, with corresponding clinical symptoms. Further study on these phenomena is indicated.
Topics: Humans; Male; Female; Adult; Mucolipidoses; Electromyography; Neural Conduction; Young Adult; Peripheral Nerves; Adolescent; Peripheral Nervous System; Evoked Potentials, Somatosensory; Middle Aged; Child
PubMed: 38790028
DOI: 10.1186/s13023-024-03216-8 -
Journal of Orthopaedic Case Reports May 2024Previously, only 40 cases with extradural hemangioblastoma at the spinal nerve (none at the T1 nerve root) have been described in the medical literature. In toto,...
INTRODUCTION
Previously, only 40 cases with extradural hemangioblastoma at the spinal nerve (none at the T1 nerve root) have been described in the medical literature. In toto, resection of this hypervascular tumor is essential to avoid bleeding complications. Surgery for hemangioblastoma at the cervicothoracic junction is complex and nerve resection of the T1 results in specific neurodeficits of the hand muscles which are not well known.
CASE REPORT
A 34-year-old woman was diagnosed with a slowly growing tumor located at the left foramen T1/T2. Pressure from the tumor resulted in Horner's syndrome and pain and paresthesia in the upper extremity. The tumor was resected in toto through a posterior midline approach and rib resection and transection of the left T1 and T2 spinal nerves. T2 hemicorporectomy and spinal stabilization were performed to gain access to and mobilize the tumor ventrally. Ptosis decreased after surgery and no neurodeficit was observed except the expected deficit (no deficit was present preoperatively) caused by the T1 resection specifically a small decrease in strength of the abductor and flexor pollicis brevis and opponens pollicis and the lateral two lumbricals. Histological examination of the tumor demonstrated a hemangioblastoma. von Hippel-Lindau disease was ruled out by genetic testing of the patient's blood. Eight-month postoperatively, all pre-operative symptoms had decreased considerably and the radiographic examination shoved unchanged pedicle screw/rod stabilization of the cervicothoracic junction.
CONCLUSION
Hemangioblastoma is a rare hypervascular tumor very rarely located at the spinal nerve. The tumor should be resected in toto to avoid recurrence and bleeding. In the current case, the location was at the T1 root necessitating complex surgery with laminectomies and hemicorporectomy of T2 and a posterior rib resection/thoracotomy. Spinal stabilization is mandatory. Preferably embolization should be performed preoperatively. T1 transection results in a specific neurodeficit which should be explained to the patient preoperatively. The patients should undergo genetic testing for Hippel-Lindau disease.
PubMed: 38784869
DOI: 10.13107/jocr.2024.v14.i05.4454 -
Frontiers in Psychiatry 2024Panic disorder is a common psychiatric diagnosis characterized by acute, distressing somatic symptoms that mimic medically-relevant symptoms. As a result, individuals... (Review)
Review
Panic disorder is a common psychiatric diagnosis characterized by acute, distressing somatic symptoms that mimic medically-relevant symptoms. As a result, individuals with panic disorder overutilize personal and healthcare resources in an attempt to diagnose and treat physical symptoms that are often medically benign. A biobehavioral perspective on these symptoms is needed that integrates psychological and medical knowledge to avoid costly treatments and prolonged suffering. This narrative review examines six common somatic symptoms of panic attacks (non-cardiac chest pain, palpitations, dyspnea, dizziness, abdominal distress, and paresthesia), identified in the literature as the most severe, prevalent, or critical for differential diagnosis in somatic illness, including long COVID. We review somatic illnesses that are commonly comorbid or produce panic-like symptoms, their relevant risk factors, characteristics that assist in distinguishing them from panic, and treatment approaches that are typical for these conditions. Additionally, this review discusses key factors, including cultural considerations, to assist healthcare professionals in differentiating benign from medically relevant symptoms in panic sufferers.
PubMed: 38779550
DOI: 10.3389/fpsyt.2024.1296569 -
Cureus Apr 2024Acute cutaneous necrosis is a rare presentation of polyarteritis nodosa (PAN). In this study, we report a presentation with symmetrical cutaneous necrosis of the lower...
Acute cutaneous necrosis is a rare presentation of polyarteritis nodosa (PAN). In this study, we report a presentation with symmetrical cutaneous necrosis of the lower limbs, which ascended upward at a rapid rate. A 47-year-old man presented with a fever of one day and pain in the feet for six days. He had no history of claudication. Upon examination, he was febrile, and subtle bluish discoloration was observed on the sole of his foot. There was a bilateral stocking-type paresthesia up to the ankle joint. His blood pressure on admission was 210/120 mmHg. Eight hours later, the pain subsided, but a left-sided foot drop was noted along with the paresthesia extending up both feet to approximately 10 cm above the medial malleolus. The feet turned black, and dark discoloration spread rapidly upward over the next 16 hours, and the skin became necrosed. A clinical diagnosis of vasculitis was established, and the patient received IV methylprednisolone at a daily dosage of 1 g for three days, effectively stopping the advancement of necrosis. This was followed by treatment with IV cyclophosphamide. A conclusive diagnosis of PAN was made, and the patient underwent wound debridement. After three months of physiotherapy, a successful skin graft was performed. Prompt identification of the underlying etiology is crucial to prevent the advancement of necrosis and save the limbs. When vasculitis is suspected, ruling out infectious causes is essential before starting early immunosuppressive treatment.
PubMed: 38770516
DOI: 10.7759/cureus.58649 -
Cureus Apr 2024We use vernakalant, an intravenous anti-arrhythmic, to cardiovert paroxysmal atrial fibrillation (AF) into sinus rhythm. It is a relatively atrium-selective,...
BACKGROUND
We use vernakalant, an intravenous anti-arrhythmic, to cardiovert paroxysmal atrial fibrillation (AF) into sinus rhythm. It is a relatively atrium-selective, early-activating potassium and frequency-dependent sodium channel blocker with a half-life of 2 to 3 hours. Due to concerns regarding its safety profile, it is not Food and Drug Administration (FDA)-approved.
OBJECTIVE
This study aims to assess the efficacy of intravenous vernakalant in cardioversion of paroxysmal AF and the safety of its use.
METHODS
Patients with paroxysmal AF who presented to the American University of Beirut Medical Center (AUBMC) between 2015 and 2020 and received vernakalant for cardioversion were included. Patients did not receive vernakalant if they had any of the following: QTc > 440 ms, heart rate < 50 bpm, acute coronary syndrome within the last 30 days, second- and third-degree atrioventricular (AV) block in the absence of a pacemaker, severe aortic stenosis (AS), use of intravenous antiarrhythmics (class I and class III) within four hours of vernakalant infusion, systolic blood pressure <100 mmHg, and heart failure (New York Heart Association (NYHA) III or NYHA IV class). The primary endpoint is conversion to sinus rhythm for at least one minute within 90 minutes of the start of the vernakalant infusion. The secondary endpoint included the presence of these side effects: bradycardia, QTc prolongation, AV block, ventricular arrhythmias, hypotension, taste alteration/dysgeusia, sneezing, nausea, vomiting, paresthesia, cardiogenic shock, or death.
RESULTS
The study included 23 patients with paroxysmal AF (15 men, mean age 54 ± 14 years). Fourteen patients (61%) cardioverted to sinus rhythm within 90 minutes of the start of the Vernakalant infusion. Seven patients (30%) reverted to sinus rhythm within 15 minutes after the first infusion. After treatment with vernakalant, four patients (17%) developed sinus bradycardia, and four patients (17%) developed first-degree AV block. No patient had a QTc greater than 460 ms. None of the patients experienced sinus pauses, high-grade AV block, ventricular arrhythmias, hypotension, dysgeusia, sneezing, nausea, vomiting, paresthesia, cardiogenic shock, or death.
CONCLUSION
Vernakalant had 61% efficacy in the rapid cardioversion of paroxysmal AF to sinus rhythm, was well tolerated, and had a low rate of adverse events in our study population.
PubMed: 38770450
DOI: 10.7759/cureus.58616 -
North American Spine Society Journal Jun 2024Chin-on-chest deformity is a rare and severely disabling condition characterized by kyphotic deformity in the cervicothoracic spine. To treat this deformity, various... (Review)
Review
Clinical and radiologic outcomes of posterior column extension, pedicle subtraction, and vertebral column resection osteotomies in adult chin on chest deformity: A systematic review.
BACKGROUND
Chin-on-chest deformity is a rare and severely disabling condition characterized by kyphotic deformity in the cervicothoracic spine. To treat this deformity, various osteotomy techniques were described.
METHODS
A comprehensive literature search of biomedical databases including MEDLINE (via PubMed), Scopus (via Elsevier), Embase (via Elsevier), and Cochrane Library in English from 1/1/1990 to 3/31/2022 was conducted using a combination of text and Medical Subject Headings (MeSH).
RESULTS
The final analysis included 16 studies. All the studies were assigned a level of evidence of four. Except for two articles, all of the articles were non-comparative studies. A total of 288 patients were included in this review. Of the 288 patients, 107 underwent posterior column extension osteotomy (PCEO), 108 underwent pedicle subtraction osteotomy (PSO), and 33 underwent vertebral column resection osteotomy (VCRO). The most common osteotomy level in fifteen of the studies was C7/T1. The studies included in this review described several techniques for cervical sagittal balance correction. The range of preoperative and postoperative visual analogue scale (VAS) scores was 5.5-8.6 to 1.7-4.91, respectively. The range of preoperative and postoperative neck disability index (NDI) was 34.2-65.4 to 22.1-51.3, respectively. The most common complications were upper extremity paresthesia and hand numbness through the C8 dermatome distribution.
CONCLUSIONS
Corrective osteotomies provide satisfactory results in patients with chin-on-chest deformity; however, the quality of the included studies limits the evidence.
PubMed: 38765779
DOI: 10.1016/j.xnsj.2024.100324 -
Cureus Apr 2024We report a 48-year-old male patient with spinal epithelioid hemangioendothelioma in T3 and T4 who began with symptoms of paresthesia in the lower limbs and distal...
We report a 48-year-old male patient with spinal epithelioid hemangioendothelioma in T3 and T4 who began with symptoms of paresthesia in the lower limbs and distal weakness of the right lower limb, back pain, increased limitation in walking, urinary incontinence, and constipation. A safe maximum resection was performed, finding residual disease during the PET/CT scan, so it was decided to treat with radiotherapy, and there was a good response to this treatment. A literature review of epithelioid hemangioendothelioma of the thoracic spine was done which showed a mean age of presentation of 41 years and a male-female ratio of 1:0.53. The main symptom was pain, which was present in 100% of the patients, and wide surgery was performed in 56.8% of the patients, intralesional surgery in 31.8%, and biopsy in 11.4%. A total of 46.6% of patients received radiation therapy, and only 6.6% received chemotherapy. The patients had an average follow-up of 38 months. We recommend that extension studies such as PET/CT scans be performed after surgical resection. This can serve as a follow-up with hemangioendothelioma epithelioma patients about metastatic disease or residual disease that will guide us in giving adjuvant treatments, such as radiotherapy or chemotherapy, for better control of the disease.
PubMed: 38765371
DOI: 10.7759/cureus.58571 -
Ticks and Tick-borne Diseases Sep 2024Some patients with unexplained neurological symptoms sought care for presumed Lyme neuroborreliosis (LNB). We aimed to compare patients' characteristics with and without...
INTRODUCTION
Some patients with unexplained neurological symptoms sought care for presumed Lyme neuroborreliosis (LNB). We aimed to compare patients' characteristics with and without LNB.
MATERIAL AND METHODS
All patients consulting for LNB suspicion and having a lumbar puncture between 2014 and 2020 in a high endemic area of Lyme borreliosis were included in the study.
RESULTS
One hundred fifty-five patients were included. Forty-five patients (29 %) had LNB (mean age: 57.6 years, 28.9 % of women) including 17 with isolated intrathecal synthesis. One hundred and ten patients had no LNB (mainly neurological (29 %) and rheumatological diseases (19 %)). Non-neurological symptoms were similar in patients with LNB and patients with no LNB (asthenia, 31 % vs. 46 %, p = 0.14, arthralgia 20 % vs. 31 %, p = 0.14) with the exception of myalgia, which was less frequent in patients with LNB (4.4 % vs. 19.1 % p = 0.02). In multivariable analysis, factors associated with LNB were presence of facial nerve palsy (OR = 5.7), radiculopathy (OR = 11.3), positive Lyme serology (OR = 5.4) and duration of symptoms less than 3 months (OR = 4.48). Patients with isolated intrathecal synthesis had a longer duration of symptoms (3 vs 1 months) than patients with pleocytosis. Asthenia (5.9 % vs. 32.1 %), headaches (0 % vs. 39.3 %) neuropathic pain (17.6 % vs. 50 %) and facial palsy (11.8 % vs. 39.3 %) were less frequent in patients with isolated intrathecal synthesis than patients with pleocytosis. The presence of isolated subjective neurological symptoms (paresthesia, memory disorders, insomnia, irritability, asthenia, headaches) was reported in 7/17 (41 %) of patients with isolated intrathecal synthesis, 2/28 (7.1 %) in patients with pleocytosis and 75/110 (68 %) in patients without LNB (p < 0.001).
CONCLUSION
More than one quarter of patients consulted for suspected LNB had non-neurologic symptoms, whether or not they have a LNB. Concerning patients with isolated intrathecal synthesis, the question of presence of sequelae with a spontaneously cured disease or an active Lyme borreliosis requiring antibiotic remain.
Topics: Humans; Lyme Neuroborreliosis; Female; Male; Middle Aged; Aged; Adult; Endemic Diseases; Radiculopathy
PubMed: 38761786
DOI: 10.1016/j.ttbdis.2024.102353 -
Prague Medical Report 2024The neuropathic compression of the tibial nerve and/or its branches on the medial side of the ankle is called tarsal tunnel syndrome (TTS). Patients with TTS presents...
The neuropathic compression of the tibial nerve and/or its branches on the medial side of the ankle is called tarsal tunnel syndrome (TTS). Patients with TTS presents pain, paresthesia, hypoesthesia, hyperesthesia, muscle cramps or numbness which affects the sole of the foot, the heel, or both. The clinical diagnosis is challenging because of the fairly non-specific and several symptomatology. We demonstrate a case of TTS caused by medial dislocation of the talar bone on the calcaneus bone impacting the tibial nerve diagnosed only by ultrasound with the patient in the standing position.
Topics: Humans; Tarsal Tunnel Syndrome; Ultrasonography; Talus; Joint Dislocations; Weight-Bearing; Male; Female; Middle Aged; Adult
PubMed: 38761051
DOI: 10.14712/23362936.2024.17 -
Neuromodulation : Journal of the... May 2024Spinal neurostimulation is a therapy for otherwise intractable chronic pain. Spinal neurostimulation includes stimulation of the spinal cord (SCS), dorsal root ganglion... (Review)
Review
INTRODUCTION
Spinal neurostimulation is a therapy for otherwise intractable chronic pain. Spinal neurostimulation includes stimulation of the spinal cord (SCS), dorsal root ganglion (DRGS), and dorsal root entry zone (DREZS). New paresthesia-free neurostimulation paradigms may rely on different mechanisms of action from those of conventional tonic neurostimulation. The aim of this systematic review is to assess the existing knowledge on the effect of spinal neurostimulation on somatosensory processing in patients with chronic pain. We therefore reviewed the existing literature on the effect of various spinal neurostimulation paradigms on the supraspinal somatosensory evoked response (SER).
MATERIALS AND METHODS
Multiple scientific data bases were searched for studies that assessed the effect of spinal neurostimulation on the supraspinal SER, evoked by painful or nonpainful peripheral stimuli in patients with chronic pain. We found 205 studies, of which 24 were included. Demographic data, study design, and study outcome were extracted.
RESULTS
Of the 24 included studies, 23 used electroencephalography to assess the SER; one study used magnetoencephalography. Fifteen studies evaluated tonic SCS; six studies (also) evaluated paresthesia-free paradigms; three studies evaluated the effect of tonic DRGS or DREZS. Sixteen studies used nonpainful stimuli to elicit the SER, 14 observed a decreased SER amplitude. Ten studies used painful stimuli to elicit the SER, yielding mixed results.
DISCUSSION
The included studies suggest that both paresthesia-based and paresthesia-free spinal neurostimulation paradigms can decrease (part of) the SER elicited by a nonpainful peripheral stimulus. The observed SER amplitude reduction likely is the effect of various spinal and supraspinal mechanisms of spinal neurostimulation that also contribute to pain relief.
CONCLUSIONS
Spinal neurostimulation modulates the processing of a peripherally applied nonpainful stimulus. For painful stimuli, the results are not conclusive. It is not yet clear whether paresthesia-free neurostimulation affects the SER differently from paresthesia-based neurostimulation.
PubMed: 38752944
DOI: 10.1016/j.neurom.2024.04.003