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Medicine Nov 2023Isaacs syndrome is peripheral nerve hyperexcitability characterized by spontaneous muscle twitching and rigidity and is often associated with antibodies to CASPR2...
RATIONALE
Isaacs syndrome is peripheral nerve hyperexcitability characterized by spontaneous muscle twitching and rigidity and is often associated with antibodies to CASPR2 (contactin-associated protein-like 2) and LGI1 (leucine-rich glioma-inactivated 1). But it is a rare Isaacs syndrome with LGI1 and CASPR2 antibodies after human papilloma virus (HPV) vaccination.
PATIENT CONCERNS
The patient presented with limb pain, muscle twitching, numbness in the extremities and around the mouth, and hand rash after the second dose of HPV vaccine.
DIAGNOSES
Laboratory tests indicated positive for LGI1 antibodies, CASPR2 antibodies, anti-phosphatidylserine/prothrombin antibodies and anti-sulfatide antibodies, TPO and ATG, IgG E. The patient post-M-wave discharges were seen on F-wave examination of the posterior tibial nerve in both lower limbs. We diagnosis the patient with Isaacs syndrome.
INTERVENTIONS
Treatment with the intravenous immunoglobulin (IVIG) treatment, after 5 days of IVIG therapy (0.4 mg/kg/day), the rash on the hand disappeared, the pain was relieved, the sleep improved.
OUTCOMES
After 3 Courses of treatment, the clinical manifestations of the nervous system disappeared and negative responsibility antibodies profile.
LESSONS
This case report suggests a possible adverse reaction to HPV vaccination, which could be treated by attempting several periods of IVIG therapy. The underlying immune mechanisms need to be studied with further extensive data.
Topics: Humans; Autoantibodies; Exanthema; Immunoglobulins, Intravenous; Intracellular Signaling Peptides and Proteins; Isaacs Syndrome; Membrane Proteins; Nerve Tissue Proteins; Pain; Papillomavirus Infections; Papillomavirus Vaccines; Vaccination
PubMed: 37933002
DOI: 10.1097/MD.0000000000035865 -
Medicine Nov 2023Toxic leukoencephalopathy, a condition resulting from exposure to toxic substances, can lead to malignant catatonia, a severe motor dysfunction with symptoms such as...
RATIONALE
Toxic leukoencephalopathy, a condition resulting from exposure to toxic substances, can lead to malignant catatonia, a severe motor dysfunction with symptoms such as muscle rigidity and high-spiking fever, hypertensive urgency, and tachycardia. This case study investigates the relationship between toxic leukoencephalopathy-induced malignant catatonia and heart rate variability (HRV), a marker of autonomic nervous system function.
PATIENT CONCERNS
A 51-year-old male presented to the emergency department with acute onset of progressively worsening mental status.
DIAGNOSES
The patient was diagnosed with cocaine-induced toxic leukoencephalopathy causing malignant catatonia.
INTERVENTIONS
A 5-day escalating treatment regimen was instituted for the management of malignant catatonia until resolution. Daily HRV parameters in the temporal and frequency domain, geometric data, and cardiac entropy were recorded using HRVAnalysis v.1.2 (ANS Lab Tools). The HRV analysis was correlated with pharmacologic management, the Bush-Francis catatonia rating scale, and hemodynamic parameters, including blood pressure, heart rate, and temperature.
OUTCOMES
The results showed a correlation between the severity and frequency of malignant catatonic episodes and the patient autonomic dysfunction. Improvement in malignant catatonia with pharmacological management was associated with an improved HRV, including elevated rMSSD, SDNN, cardiac entropy, and pNN50%.
LESSONS
Malignant catatonia is associated with decreased HRV, and its management is associated with an increase. This suggests a link between malignant catatonia and autonomic dysfunction, highlighting the potential benefits of treating malignant catatonia to improve autonomic function and reduce cardiovascular risk.
Topics: Male; Humans; Middle Aged; Catatonia; Heart Rate; Heart; Leukoencephalopathies
PubMed: 37932984
DOI: 10.1097/MD.0000000000035371 -
Case Reports in Neurology 2023Stiff person syndrome (SPS) is an extremely rare disease that presents with episodic painful muscle spasms and progressive muscle rigidity. Recent evidence suggests that...
Stiff person syndrome (SPS) is an extremely rare disease that presents with episodic painful muscle spasms and progressive muscle rigidity. Recent evidence suggests that SPS can rarely manifest with life-threatening respiratory complications. However, the pathophysiology behind respiratory failure in SPS is still not clearly understood. Here, we explored an extremely rare case of a 36-year-old African-American female with SPS presenting with multiple episodes of respiratory failure events for the past 9 years. She had an in-situ tracheostomy and was admitted to the hospital for tracheostomy evaluation and decannulation. 11 years ago she initially presented with gait abnormalities, stiffness, and spastic episodes. She was diagnosed 1 year later with SPS after detecting elevated anti-glutamic acid decarboxylase antibody levels in her blood. Through this report, we were able to follow a very rare case of SPS that presented with multiple episodes of respiratory failure. We pointed out the importance of early start and regular administration of diazepam, baclofen, and IVIg in not only controlling the symptoms and progression of the disease but also in preventing further respiratory failure and possible sudden death.
PubMed: 37901129
DOI: 10.1159/000532093 -
Open Medicine (Warsaw, Poland) 2023Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This...
Malignant hyperthermia (MH) is an inherited skeletal muscle disorder caused primarily by a genetic mutation, usually in the calcium channel gene of the muscle. This mutation can lead to muscle hypersensitivity to volatile anesthetics (such as sevoflurane) and the depolarizing muscle relaxant succinylcholine, resulting in hyperthermia, muscle stiffness, metabolic disturbances, and other severe physiological reactions. This condition may prove fatal unless it is recognized in its early stages and treatment is administered promptly and aggressively. We report a 13-year-old adolescent who underwent laparoscopic appendectomy and developed MH after the use of inhalational anesthetics, manifested by unremitting hyperthermia with a maximum temperature of 44.2°C, muscle rigidity, tachycardia, hypercapnia; and malignant arrhythmias, cardiogenic shock, hyperkalemia, metabolic, and respiratory acidosis. After early and timely recognition, multidisciplinary management and administration of dantrolene, the case was successfully treated. Exome sequencing revealed a point mutation (amino acid change) on the RYR1 gene: c.12700G>C(p.Val4234Leu). Due to the lack of ready-made dantrolene in our hospital, the patient in this case received dantrolene treatment only 6 h after the first observation of high body temperature. We review the development of the disease and summarize the success of treatment and what can be done to improve the chances of saving the patient's life if dantrolene is not available in time.
PubMed: 37873543
DOI: 10.1515/med-2023-0808 -
Journal of Community Hospital Internal... 2023Stiff person syndrome (SPS) and biliary dyskinesia are two rare but potentially debilitating conditions that can significantly impact quality of life. SPS is a rare...
Stiff person syndrome (SPS) and biliary dyskinesia are two rare but potentially debilitating conditions that can significantly impact quality of life. SPS is a rare neurological disorder characterized by muscle stiffness, rigidity, and muscle spasms that primarily affect the trunk and limbs and is associated with extra-axial manifestations involving the gastrointestinal tract. Biliary dyskinesia is a gastrointestinal disorder characterized by abnormal gallbladder emptying, leading to symptoms of intense abdominal pain, nausea, and vomiting. Despite their distinct clinical presentations, studies have suggested a possible connection between the two disorders. This link may be due to involvement of similar neurotransmitters and autoantibodies in both conditions. In this report, we present a case of biliary dyskinesia in a 58-year-old male with prior history of chronic gastrointestinal symptoms, autoimmune disease, and SPS. Given the rarity of these conditions, there is a need for increased awareness and improved diagnostic modalities to facilitate early detection and management.
PubMed: 37868672
DOI: 10.55729/2000-9666.1239 -
International Journal of Medical... Sep 2023Moersch-Woltman Syndrome (MWS), also known as Stiff person syndrome (SPS), is a rare, progressive condition of the central nervous system. Symptoms can include severe...
BACKGROUND
Moersch-Woltman Syndrome (MWS), also known as Stiff person syndrome (SPS), is a rare, progressive condition of the central nervous system. Symptoms can include severe immobility, rigidity, and painful muscle spasms in the trunk and limbs. Muscle spasms can occur in MWS patients because they are more sensitive to noise, rapid movements, and mental disturbance. The condition affects women twice as frequently as it does males. It is a rare disease, affecting only 1-2 people per million. The case report aims to highlight the importance of the diagnostic challenges associated with MWS and the significance of glutamic acid decarboxylase (GAD) antibodies.
THE CASE
A 57-year-old female patient presents with history of migraine headaches, anxiety, and depression. The patient experienced widespread and distressing muscle spasms affecting the shoulders, upper and lower back, and limited range of motion in the neck. Physical examination revealed dense diffuse muscle stiffness throughout the body. Further investigations were ordered, including a comprehensive range of laboratory tests and imaging tests. A positive test for GAD antibodies confirmed the diagnosis of MWS. Treatment included administration of Clonazepam and Baclofen. A follow-up appointment, three weeks later, indicated a noticeable 15-20% reduction in spasticity.
CONCLUSION
This case highlights the crucial role of anti-GAD antibodies in confirming the diagnosis of SPS. Healthcare professionals should consider testing for these antibodies in patients presenting with the described symptoms. A multidisciplinary approach involving neurologists, physical therapists, psychiatrists, and orthopedic surgeons is essential to provide comprehensive care and optimizing outcomes for individuals with MWS.
PubMed: 37854036
DOI: No ID Found -
PloS One 2023The study aimed to test the feasibility of using tensiomyography to assess the functional status of the latissimus dorsi and erector spinae muscles in girls with... (Observational Study)
Observational Study
PURPOSE
The study aimed to test the feasibility of using tensiomyography to assess the functional status of the latissimus dorsi and erector spinae muscles in girls with C-shaped low back scoliosis.
MATERIALS AND METHODS
Twenty-five girls aged 13-15 took part in an observational (cross-sectional) study. The examination involved measurements using the tensiomyography method (TMG). Two groups of muscles were tested: latissimus dorsi and erector spinae on the concave and convex side of low-grade scoliosis. The following indicators were analyzed: Td-delay time, Tc-contraction time, and Dm-maximal muscle displacement.
RESULTS
The analysis of Td revealed that values of this variable on the concave side were slightly lower compared to the convex side in both tested groups of muscles. Similarly, Tc values on the concave side were slightly lower than on the convex side of the curvature in both groups of muscles. In the case of Dm, lower displacement values and, consequently, greater muscle rigidity were observed on the concave side of the latissimus dorsi and the convex side of the erector spinae.
CONCLUSIONS
The TMG method can be potentially used to diagnose the functional condition of muscles in patients with low-grade scoliosis. There were differences between the functional condition of the muscles on the concave and convex sides of the curvature.
Topics: Female; Humans; Cross-Sectional Studies; Scoliosis; Back Muscles; Paraspinal Muscles; Superficial Back Muscles
PubMed: 37847728
DOI: 10.1371/journal.pone.0292555 -
Veterinary Medicine and Science Nov 2023A young stray entire female domestic shorthair cat was presented with symmetrical forelimb extensor rigidity, neck hyperextension and hindlimb paraplegia, characteristic...
A young stray entire female domestic shorthair cat was presented with symmetrical forelimb extensor rigidity, neck hyperextension and hindlimb paraplegia, characteristic of Schiff-Sherrington phenomenon (SSP), within 30 min of a motor vehicle accident. Radiographic and post-mortem studies disclosed complete transection of the spinal cord from traumatic dorsocranial luxation of the second lumbar vertebra, displacement of the sacrum from the ilium, seventh lumbar and first caudal vertebrae and multiple pelvic fractures. Other causes of forelimb extensor rigidity and neck hyperextension such as decerebrate and decerebellate rigidity were excluded by a lack of neurological signs consistent with these entities and unremarkable findings on post-mortem examination of the cranial cavity and brain and histological examination of the cerebrum, brainstem and cerebellum. To the best of the author's knowledge, this is the first report of SSP in the cat outside the experimental arena of decerebrate or non-decerebrate preparations following post-brachial spinal cord transection/cold block.
Topics: Female; Cats; Animals; Muscle Rigidity; Spinal Cord Injuries; Spine; Cat Diseases
PubMed: 37846941
DOI: 10.1002/vms3.1308 -
Cureus Sep 2023Tetanus is a vaccine-preventable disease that commonly occurs in under-resourced countries; clinically, it manifests as spontaneous muscle spasms and overall body...
Tetanus is a vaccine-preventable disease that commonly occurs in under-resourced countries; clinically, it manifests as spontaneous muscle spasms and overall body rigidity, which can lead to autonomic dysfunction. The diagnosis of tetanus is primarily clinical, although laboratory testing is available, treatment of a clinical case should never be delayed. Management includes general support measures, prevention of complications, control of muscle spasms, and immunoglobulin. We present a patient from an underdeveloped region with a diagnosis of generalized tetanus after injury with a disc grinder. Clinical presentation of the patient, diagnostic studies performed, management, and outcome are discussed.
PubMed: 37818493
DOI: 10.7759/cureus.44958 -
Journal of Neuromuscular Diseases 2023SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis... (Observational Study)
Observational Study
BACKGROUND
SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. No curative treatment options exist, but promising preclinical studies are ongoing. Currently, natural history data are lacking, while selection of appropriate clinical and functional outcome measures is needed to reach trial readiness.
OBJECTIVE
We aim to identify all Dutch and Dutch-speaking Belgian SELENON-RM patients, deep clinical phenotyping, trial readiness and optimization of clinical care.
METHODS
This cross-sectional, single-center, observational study comprised neurological examination, functional measurements including Motor Function Measurement 20/32 (MFM-20/32) and accelerometry, questionnaires, muscle ultrasound, respiratory function tests, electro- and echocardiography, and dual-energy X-ray absorptiometry.
RESULTS
Eleven patients with genetically confirmed SELENON-RM were included (20±13 (3-42) years, 73% male). Axial and proximal muscle weakness were most pronounced. The mean MFM-20/32 score was 71.2±15.1%, with domain 1 (standing and transfers) being most severely affected. Accelerometry showed a strong correlation with MFM-20/32. Questionnaires revealed impaired quality of life, pain and problematic fatigue. Muscle ultrasound showed symmetrically increased echogenicity in all muscles. Respiratory function, and particularly diaphragm function, was impaired in all patients, irrespective of the age. Cardiac assessment showed normal left ventricular systolic function in all patients but abnormal left ventricular global longitudinal strain in 43% of patients and QRS fragmentation in 80%. Further, 80% of patients showed decreased bone mineral density on dual-energy X-ray absorptiometry scan and 55% of patients retrospectively experienced fragility long bone fractures.
CONCLUSIONS
We recommend cardiorespiratory follow-up as a part of routine clinical care in all patients. Furthermore, we advise vitamin D supplementation and optimization of calcium intake to improve bone quality. We recommend management interventions to reduce pain and fatigue. For future clinical trials, we propose MFM-20/32, accelerometry and muscle ultrasound to capture disease severity and possibly disease progression.
Topics: Humans; Male; Female; Cross-Sectional Studies; Longevity; Retrospective Studies; Quality of Life; Muscular Diseases; Muscle Weakness; Fatigue
PubMed: 37807786
DOI: 10.3233/JND-221673