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JCEM Case Reports Jun 2024Chiari 1 malformation (CM1) is a rare finding that has been described with growth hormone (GH)-secreting pituitary adenomas and with an endothelial PAS domain protein 1...
Chiari 1 malformation (CM1) is a rare finding that has been described with growth hormone (GH)-secreting pituitary adenomas and with an endothelial PAS domain protein 1 gain-of-function mutation syndrome. We describe the first reported case of a patient diagnosed with CM1 and nonfunctioning pituitary and adrenal incidentalomas. Our case describes a 45-year-old female who was found to have cerebellar tonsillar ectopia consistent with CM1, a pituitary tumor, and bilateral adrenal incidentalomas. She was diagnosed after presenting with 2 weeks of upper extremity weakness and paresthesia. A comprehensive endocrine workup including insulin like growth factor (IGF-1) was normal. She underwent posterior fossa decompression without complication. Pituitary adenectomy was not pursued as there was no evidence of compression of the chiasm or the surrounding structures. In previous case reports it has been proposed that GH-secreting adenomas contribute to CM1 by causing hypertrophy of soft tissue structures in the skull base, overcrowding the posterior fossa. Given that our patient had normal IGF-1 levels, there could be a different underlying mechanism that contributed to the concomitant occurrence of CM1 with the pituitary and adrenal tumors.
PubMed: 38919912
DOI: 10.1210/jcemcr/luae113 -
International Journal of Surgery Case... Jun 2024Vitamin B12 deficiency can manifest through various oral manifestations such as glossitis, glossodynia, recurrent ulcers, cheilitis, dysgeusia, lingual paresthesia,...
INTRODUCTION AND IMPORTANCE
Vitamin B12 deficiency can manifest through various oral manifestations such as glossitis, glossodynia, recurrent ulcers, cheilitis, dysgeusia, lingual paresthesia, burning sensations, and pruritus. These oral signs can serve as early indicators of systemic conditions such pernicious anemia.
CASE PRESENTATION
A 67 year old northern African female presented at the oral surgery service with complaints of a sore mouth and difficulty eating certain types of food. Her medical history revealed hypothyroidism and no history of gastrectomy. She was diagnosed with pernicious anemia in 2014 and is under hydroxocobalamin injection 5000μg/month since then. Dental history indicated extraction of all teeth, and in 2014, the patient was diagnosed with oral lichen planus. There were no contributory oral habits. Intraoral examination revealed a band like erythematous lesion on the palate with two superficial ulcerations, diagnosed as related to her pernicious anemia. The patient was prescribed a mouthwash containing sodium bicarbonate and corticosteroid to reduce inflammation and alleviate pain. A low level laser therapy was also considered to reduce the burning sensations.
CLINICAL DISCUSSION
Pernicious anemia (PA) is an autoimmune disease characterized by the gradual atrophy of the gastric mucosa, predominantly affecting the body and fundus of the stomach, leading to vitamin B12 deficiency. Its insidious onset often masks its presence. Patients have no anemic symptoms. However, they can present with oral manifestations related to vitamin B12 deficiency. Those oral signs can precede hematological symptoms helping in early diagnosis of PA.
CONCLUSION
Dentists and other oral health care providers must be aware of this condition and its oral manifestations. Investigating vitamin B12 levels should be considered in patients presenting with oral ulcers, oral erythema or burning sensations without an apparent origin.
PubMed: 38917702
DOI: 10.1016/j.ijscr.2024.109931 -
Neurosurgery Jun 2024Full-endoscopic sacroiliac joint denervation (FE-SJD) is a novel technique for the management of pain secondary to sacroiliac joint dysfunction. The aim of this study...
BACKGROUND AND OBJECTIVES
Full-endoscopic sacroiliac joint denervation (FE-SJD) is a novel technique for the management of pain secondary to sacroiliac joint dysfunction. The aim of this study was to assess the long-term efficacy, safety, clinical outcomes, and outcome predictors of uniportal full-endoscopic sacroiliac joint denervation.
METHODS
From 2019 to 2021, a total of 47 consecutive patients with pain secondary to sacroiliac joint dysfunction underwent uniportal FE-SJD through posterior approach by a single fellowship-trained spine surgeon. A retrospective analysis of perioperative parameters, complications, and clinical outcomes were obtained prospectively.
RESULTS
The patient cohort had a mean age of 59.4 ± 14.0 years, with 63.8% females. Symptom duration averaged 62.1 ± 53.7 months. The mean operative time was 57.1 ± 16.8 minutes. All patients were discharged on the same day of surgery. Significant improvement was noted in preoperative visual analog score (back) and Oswestry Disability Index scores at 3, 6, 12 months, and 2 years (P < .001). Thirty-four patients (72.3%) returned to normal functioning with an average of 82% pain relief and a satisfaction rate of 78.7% at a mean follow-up of 18.2 ± 13.1 months. There were no intraoperative complications. One patient had postoperative right L5 dysesthesia. Seven patients (14.9%) underwent contralateral FE-SJD due to satisfaction with the index procedure but residual pain on the contralateral side. Concomitant lumbar issues correlated with less functional improvement at 2 years (P = .009).
CONCLUSION
The long-term clinical results of FE-SJD are favorable. Endoscopic denervation of the dorsal rami branches supplying the sacroiliac joint represents a safe, effective, and durable option to address pain secondary to sacroiliac joint dysfunction. A significant factor that influences outcomes is the presence of concomitant lumbar pathology. Further research is needed to compare this technique with current available treatment options.
PubMed: 38916375
DOI: 10.1227/neu.0000000000003053 -
Cureus Jun 2024Recreational use of nitrous oxide (NO), commonly known as , has increased in the last few years, bringing an increase in the number of reported cases of toxicity due to...
Recreational use of nitrous oxide (NO), commonly known as , has increased in the last few years, bringing an increase in the number of reported cases of toxicity due to this gas. Subacute combined degeneration (SCD) of the spinal cord is the most frequently reported neurological disorder due to the use of NO, as well as polyneuropathy and even psychiatric symptoms. All of these disorders are consequences of a functional deficit of vitamin B. We are reporting the cases of two patients with a history of NO abusive use presenting to the emergency department with progressive symptoms of paresthesia, ascending symmetric paraparesis, and gait ataxia, emulating the clinical characteristics of Guillain-Barré Syndrome (GBS). In both cases, magnetic resonance imaging (MRI) showed findings compatible with transverse myelitis of the cervical spinal cord, and electrodiagnosis studies reported the presence of polyneuropathy with a mixed mechanism. All these findings together pointed to the presence of myeloneuropathy due to a vitamin B deficit induced by the prolonged use of NO. Symptoms improved gradually with vitamin B supplementation and abstinence from NO. It is important to acknowledge the clinical characteristics of complications due to neurotoxicity induced by NO. Such complications are potentially reversible if they are treated appropriately and quickly. Considering the increase in N2O abuse, it should be considered a probable cause when treating patients with myelopathy and/or neuropathy of an unusual etiology.
PubMed: 38915835
DOI: 10.7759/cureus.63003 -
Frontiers in Neurology 2024Evaluate safety and effectiveness of thermal radiofrequency in the musculocutaneous nerve in patients with focal elbow flexor spasticity.
OBJECTIVE
Evaluate safety and effectiveness of thermal radiofrequency in the musculocutaneous nerve in patients with focal elbow flexor spasticity.
DESIGN
Ambispective observational follow-up study. Patients with focal spasticity secondary to central nervous system injury with elbow flexor pattern who received thermal radiofrequency treatment in the musculocutaneous nerve between 2021 and 2023 were included.
SUBJECTS
12 patients.
METHODS
Ultrasound-guided thermal radiofrequency was applied to the musculocutaneous nerve at 80°C for 90 s. Effectiveness was assessed prior to thermal radiofrequency and at 6 months using scales to measure pain (VAS), spasticity (MAS), disability (DAS), quality of life (SQol-6D), patient-perceived and physician-perceived satisfaction (PIG-C, PGA), and goal attainment (GAS). Elbow joint range of motion was evaluated via goniometry. Safety was evaluated by assessing side effects.
RESULTS
Patients had statistically significant improvements in spasticity ( = 0.003), severe elbow flexion ( = 0.02), pain ( = 0.046), functioning ( < 0.05), and spasticity-related quality of life ( < 0.05 in three sections). Furthermore, treatment goals were attained. Patient- and physician-perceived clinical improvement was achieved. Regarding side effects, two patients had dysesthesia that was self-limiting, with maximum duration of 1 month.
CONCLUSION
Thermal radiofrequency in the musculocutaneous nerve can be a safe, effective treatment for patients with severe spasticity with an elbow flexor pattern.
PubMed: 38915804
DOI: 10.3389/fneur.2024.1369947 -
Pediatric Neurology Jun 2024Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of...
BACKGROUND
Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits.
METHODS
We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases.
RESULTS
Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion.
CONCLUSIONS
In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.
PubMed: 38914025
DOI: 10.1016/j.pediatrneurol.2024.05.024 -
Frontiers in Immunology 2024Bilateral facial palsy with paresthesia (FDP) is a rare variant of GBS, characterized by simultaneous bilateral facial palsy and paresthesia of the distal limbs....
Bilateral facial palsy with paresthesia (FDP) is a rare variant of GBS, characterized by simultaneous bilateral facial palsy and paresthesia of the distal limbs. Mounting evidence indicates that the presence of anti-GT1a IgG has a pathogenic role as an effector molecule in the development of cranial nerve palsies in certain patients with GBS, whereas anti-GT1a antibody is rarely presented positive in FDP. Here, we report the case of a 33-year-old male diagnosed with FDP presented with acute onset of bilateral facial palsy and slight paresthesias at the feet as the only neurological manifestation. An antecedent infection with no identifiable reason for the fever or skin eruptions was noted in the patient. He also exhibited cerebrospinal fluid albuminocytologic dissociation and abnormal nerve conduction studies. Notably, the testing of specific serum anti-gangliosides showed positive anti-GT1a IgG/IgM Ab. The patient responded well to intravenous immunoglobulin therapy. This case brings awareness to a rare variant of GBS, and provides the first indication that anti-GT1a antibodies play a causative role in the development of FDP. The case also suggests that prompt management with IVIG should be implemented if FDP is diagnosed.
Topics: Humans; Male; Adult; Paresthesia; Facial Paralysis; Autoantibodies; Gangliosides; Immunoglobulins, Intravenous; Immunoglobulin G; Guillain-Barre Syndrome
PubMed: 38911860
DOI: 10.3389/fimmu.2024.1410634 -
Frontiers in Oncology 2024Chemotherapy-induced peripheral neurotoxicity (CIPN) is a dose-limiting side effect observed in breast cancer patients. Its primary clinical manifestations include limb...
BACKGROUND
Chemotherapy-induced peripheral neurotoxicity (CIPN) is a dose-limiting side effect observed in breast cancer patients. Its primary clinical manifestations include limb numbness, tingling sensations, hypoesthesia, or paresthesia. In severe instances, some patients may also encounter muscle cramps, weakness, and pain, leading to potential paralysis. The onset of CIPN significantly impacts the quality of life for cancer patients. Hence, it is imperative to explore preventive strategies for managing CIPN.
METHODS
We searched for relevant randomized controlled trials (RCTs) and non-randomized controlled trials (non-RCTs) in several databases. The primary outcome measures encompassed the Patient Neurotoxicity Questionnaire (PNQ), the Functional Assessment of Cancer Therapy-Taxane (FACT-Taxane), and the National Cancer Institute Common Terminology Criteria for Adverse Events (NCI-CTCAE). Secondary outcomes aimed to evaluate the quality of life and the tolerability of ice gloves. Meta-analysis was conducted using RevMan 5.3 software to determine the relative risk ratio (RR) and 95% confidence interval (CI).
RESULTS
We conducted an analysis involving 372 patients across seven trials. In our meta-analysis, the use of ice gloves demonstrated non-significant results in reducing the incidence of both motor and sensory neuropathy, as assessed through CTCAE (sensory: RR: 0.94; 95% CI: 0.85 to 1.02; P = 0.15; motor: RR: 1.04; 95% CI: 0.88 to 1.22; P = 0.64). Similarly, when evaluated using the PNQ, there was no significant reduction observed in the incidence of sensory and motor neuropathy (sensory: RR: 0.49; 95% CI: 0.20 to 1.20; P = 0.12; motor: RR: 0.71; 95% CI: 0.26 to 1.99; P = 0.52). Consistently, our conclusions remained unchanged when employing the FACT-Taxane assessment. Regarding the evaluation of the quality of life, our observations suggested a potential improvement with the use of ice gloves, and participants exhibited moderate tolerance towards them.
CONCLUSION
Ice gloves are a reasonable option for the treatment of CIPN in patients undergoing chemotherapy for breast cancer. However, the effectiveness of ice gloves in combating CIPN remains inconclusive at this time due to the low quality and limited number of clinical trials on this topic.
SYSTEMATIC REVIEW REGISTRATION
https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42023457045, identifier CRD42023457045.
PubMed: 38903710
DOI: 10.3389/fonc.2024.1366782 -
Cureus May 2024Genioplasty is a common procedure in plastic surgery, with various alloplastic biomaterials utilized for chin augmentation. Despite their advantages, complications such...
Genioplasty is a common procedure in plastic surgery, with various alloplastic biomaterials utilized for chin augmentation. Despite their advantages, complications such as neuropraxia of the mental nerve can occur, leading to temporary or persistent sensory disturbances. This case report describes a 35-year-old female who sought correction of a small chin. Preoperative evaluation revealed a retrognathic profile, and the patient underwent genioplasty with high-density porous polyethylene implantation. Postoperatively, she experienced mild paresthesia, which improved over time. Neurosensory assessments, including mechanical and light touch tests, showed no abnormalities in A-beta and C fibers but decreased sensitivity in A-delta fibers. This case report emphasizes the importance of evaluating larger nerve fibers during postoperative assessments and the need for standardized testing methodologies to comprehensively assess nerve damage after genioplasty. Further research should explore strategies to standardize neurosensory assessment and optimize therapeutic interventions for nerve damage after genioplasty.
PubMed: 38903356
DOI: 10.7759/cureus.60709 -
World Neurosurgery Jun 2024Chiari I malformation (CM- I) is defined as the extension of brain tissue into the spinal cord. This study aimed to refine the methodology for the acquisition of...
BACKGROUND
Chiari I malformation (CM- I) is defined as the extension of brain tissue into the spinal cord. This study aimed to refine the methodology for the acquisition of 3-dimensional measurements of the posterior fossa and introduce occipital keel size as a new marker and its impact in patients with CM.
MATERIALS AND METHODS
In this retrospective study, all patients who underwent Chiari decompression surgery at Montefiore Medical Center from April 2012 to April 2022 were included. Perioperative clinical information was obtained in addition to maximal keel thickness (KT), foramen magnum area, and pre-and postoperative posterior fossa volumes for each patient and age-matched controls. Volumetric measurements were obtained using AI-based semiautomated segmentation.
RESULTS
A total of 107 patients with CM including 37 males, and 70 females were studied with a mean age of 26.56±17.31 compared with 103 controls without CM. The comparison between the CM and the general population groups demonstrated a significantly increased keel size in Chiari patients. Keel size had a significant relationship with dysphagia, paresthesia, and intraoperative blood loss, while posterior volume change had a significant relationship with sex and early symptomatic improvement. The Foramen magnum area was related to tonsillar descent and more prominent in patients with spina bifida.
CONCLUSION
The Keel of Goodrich is a new anatomical factor that should be taken into consideration when evaluating preoperative symptoms, and intraoperative complications in patients with CM-1. Volumetric analyses demonstrated that posterior fossa volume change had a significant impact on early symptom improvement in patients with Chiari, as did the choice of operative approach. The routine use of semi-automated segmentation of the posterior fossa may help stratify Chiari patients in the future and should be implemented in routine clinical care.
PubMed: 38901483
DOI: 10.1016/j.wneu.2024.06.083