Cervical Dystonia Mimics: A Case Series and Review of the Literature.
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ABSTRACT:
SUBMITTER: Raju S
PROVIDER: S-EPMC6898896 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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Project description:BackgroundPhospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia-parkinsonism (PLAN-DP).Case reportWe report the clinical, radiological, and genetic findings of a young Pakistani male with PLAN-DP. We review 11 previously published case reports cited in PubMed, and summarize the demographic, clinical, genetic, and radiological data of the 23 patients described in those articles.DiscussionPLAN-DP presents with diverse motor, autonomic, and neuropsychiatric features and should be considered in the differential diagnosis of patients with young-onset neurodegenerative disorders.
| S-EPMC4503963 | biostudies-literature
Project description:The primary treatment of choice for patients with cervical spondylotic myelopathy (CSM) is surgical decompression. The benefit of operative intervention has been well established but, the surgeons' decision of operative approach remains nuanced based on patient-specific variables and surgeon preference. Decompression can involve a cervical corpectomy or a discectomy. A hybrid construct is when both a cervical corpectomy and a discectomy are done in the same patient. The purpose of this study was to review the evidence on the clinical and biomechanical outcomes of hybrid decompression and reconstruction techniques in patients with multilevel CSM. A retrospective study was performed on consecutive patients who received hybrid anterior decompression and reconstruction at Rush University between 2013-2018. Preoperative clinical and radiographic variables were analyzed to characterize specific factors leading to the decision of the surgical approach. In addition, we performed a systematic review and meta-analysis to assess superiority in terms of operative time, blood loss, cervical lordosis, patient-reported outcomes (PRO), fusion rates, and complications. Hybrid surgery (HS) was utilized in cases where multilevel CSM was present in conjunction with stenosis posterior to the vertebral body or acute kyphotic deformity. Our meta-analysis highlighted comparable PRO, complications, and rate of success fusion between 3-level anterior cervical discectomy and fusion (ACDF) and hybrid technique. Furthermore, hybrid fusion led to increased postoperative cervical lordosis, higher fusion rate, lower total complication rate, lower implant failure/mesh subsidence rate, and lower blood loss than 2-level corpectomy. The cervical hybrid technique that combines cervical corpectomy and discectomy represents a balanced option with the benefits of two commonly utilized cervical spine procedures in patients with multilevel CSM. The literature on hybrid technique suggests in cases where multilevel ACDF is not feasible, combining discectomy and corpectomy is superior to two-level corpectomy with lower complication rates, improved clinical outcome, spinal alignment correction, and stronger biomechanical properties.
| S-EPMC7154354 | biostudies-literature
Project description:Spontaneous cervical swelling syndrome (SCSS) is a rare disorder characterized by unprovoked, self-limiting and often unilateral cervical edema. SCSS is a recurrent disorder that predominantly affects adult women and is not associated with laboratory abnormalities. We report on eight female patients with a mean age of 56 (38-82) years at the time of the first presentation. The episodes were characterized by an acute onset in all patients and had a mean duration of 3.8 (1-7) days. Biochemical analysis did not reveal any related abnormalities. Imaging of the neck and chest demonstrated diffuse edema in the supraclavicular fossa and left infrahyoid region in all patients. At the time of the acute event, lymphatic scintigraphy revealed tracer accumulation in the left supraclavicular region in three patients and could not demonstrate any abnormalities in the in-between episodes in two patients.
| S-EPMC8143671 | biostudies-literature
Project description:Urethral mucosal prolapse is most frequently seen in children and postmenopausal women, and extremely rare in young adult patients. In this context, we aim to describe our experience with this condition and compare our findings with the literature. We reviewed the medical records of our outpatient micturition disorders clinic (between August 2014 and April 2017) for patients with a diagnosis of urethral mucosal prolapse, seeking to evaluate their demographic characteristics, presenting complaints, treatment, and outcomes. We found 12 cases of urethral mucosal prolapse, including a mother and daughter and a reproductive-aged patient. Presenting symptoms included bleeding, urinary retention, partially thrombosed mucosa, and pain. Misdiagnosis was common and caused treatment delay, even in some very symptomatic patients. Urethral mucosal prolapse is a readily diagnosed condition and often associated with complications in our series. Proper diagnosis is key to successful, timely treatment. Descriptive studies such as this are important to raise awareness of this diagnosis and improve patient care.
| S-EPMC7109233 | biostudies-literature
Project description:BackgroundSyphilis infections are increasing globally. Lower gastrointestinal syphilis (LGIS) is a rare manifestation of early syphilis transmitted through anal sexual contact. Misdiagnosis of LGIS as inflammatory bowel disease may result from clinician underawareness.MethodsWe searched the literature for articles describing cases of LGIS, and identified additional cases diagnosed within our institution. Data were extracted from the articles and medical records and analyzed to provide a summative account.ResultsFifty-four cases of LGIS were identified in 39 articles published between 1958 and 2020. Eight additional cases were diagnosed at our institution between 2011 and 2020, totaling 62 cases. All cases were described in men and transwomen aged 15-73 years. Fifty (93%) individuals reported having sex with men. In 26 cases (52%), the individuals were human immunodeficiency virus (HIV) coinfected. LGIS presented most commonly with hematochezia (67%) and anal pain (46%). The most common physical examination findings were rectal mass (38%), lymphadenopathy (31%), and rash (26%). Nontreponemal titers ranged from 1:2 to 1:1024. Of the 52 cases in which endoscopy was reported, 22 (42%) showed anorectal mass and 18 (35%) showed anorectal ulcer. In 44 cases (75%), histopathology revealed a chronic inflammatory infiltrate with a prominent lymphocyte component (45%) and/or plasma cells (36%). Seventy-eight percent of specimens to which a tissue stain was applied were positive for spirochetes.ConclusionsLGIS should be suspected in men and transwomen presenting with a lower gastrointestinal symptom or mucosal abnormality. A sexual history must be elicited and guide testing. Misdiagnosis can delay treatment and threatens patient and public health.
| S-EPMC8494075 | biostudies-literature
Project description:BackgroundGlobally, schistosomiasis affects at least 240 million people each year with a high proportion of cases in sub-Saharan Africa. The infection presents a wide range of symptoms mainly at the gastrointestinal and urogenital level. Cases of schistosomiasis-related appendicitis are seldom reported. The aim of the present study is to identify the prevalence of schistosomiasis-related appendicitis in Beira, Mozambique and compare to global prevalence.MethodsWe retrospectively reviewed all cases of appendicitis recorded from January 2017 to March 2020 at a single pathology department located in Beira in order to assess the prevalence of schistosomiasis. Moreover, we performed a systematic review on the prevalence of schistosomiasis-related appendicitis in all countries.FindingsA total of 145 appendicitis cases in Beira showed a 13.1% prevalence of schistosomal-related appendicitis. The mean age of patients was 29.1 years, and 14 (73.7%) were male. The systematic review identified 20 studies with 34,790 inpatients with schistosomiasis-related appendicitis with a global prevalence of 1.31% (95% confidence interval (CI): 0.72 to 2.06); a high heterogeneity (I2 = 96.0%) was observed. Studies carried out in Africa reported a significantly higher prevalence of schistosomiasis-related appendicitis (2.75%; 95% CI: 1.28 to 4.68) than those in Middle East (0.49%; 95% CI: 0.18 to 0.95) (p for interaction < 0.0001).ConclusionsSchistosomiasis infection should be considered as possible cause of appendicitis not only in endemic areas but also in developed countries. Considering that prevention is the best way to control the infection, more efforts should be put in place in order to increase the prevention coverage and avoid the cascading implications for health. This is even more so important in this Coronavirus Disease 2019 (COVID-19) era where the majority of attention and funds are used to fight the pandemic.
| S-EPMC8224979 | biostudies-literature
Project description:Background Pleomorphic adenoma (PA) is the most frequent benign salivary gland tumor, but a lip PA is rare. Although this tumor may be definitively diagnosed by imaging or a tissue biopsy if it is reasonably large, PAs on the lip are relatively small, and they present findings that are similar to those of other lip lesions, which can make a preoperative diagnosis difficult. Methods We analyzed all PAs in the oral region and lesions on the lips treated in our department over the past 20 years, and we discuss them together with the relevant literature. Results We found that 11.8% (n=6) of the PAs occurred on a lip (upper lip: 9.8%, lower lip: 2.0%), and ~1% of all mass lesions of the lips were PAs. The average size of the lip PAs was 1.5±0.7 cm (range, 0.7–2.2 cm). For preoperative diagnostic assistance, ultrasonography (US) (n=4), magnetic resonance (MR) (n=3), or no imaging (n=2) was used. An excisional biopsy was performed in all cases, and to date, no recurrence or malignant transformation has been observed. Conclusions Lip PA is relatively rare. Because almost all of these lesions are small, a preoperative diagnosis is more difficult compared to palatal lesions. This tumor is also prone to long-term neglect and has the potential for recurrence and malignant transformation. It is thus necessary to perform an excision that includes the capsule and surrounding tissues, and careful postoperative follow-up should be continued.
| S-EPMC9638788 | biostudies-literature
Project description:IntroductionThe cervical lymphoepithelial or branchial cleft cyst are benign dysembryologic cystic tumors developing in the anterolateral region of the neck. They are relatively uncommon anomalies.The aims of this study are to analyze the anatomoclinical features and to discuss the modalities of care for the management of this disease.Presentation of caseWe report a case of a 70 years-old woman who was admitted to our department with a complaint of painless mass in the right supraclavicular region. Clinical examination and radiological investigations found a mass compatible with cervical cyst. Treatment consisted of the complete resection of the cyst. histopathological examination found a Cervical lymphoepithelial cyst.ConclusionThe cervical lymphoepithelial can be easily misdiagnosed. It is imperative that clinicians make an accurate diagnosis for appropriate treatment (that is, surgical excision).
| S-EPMC7804335 | biostudies-literature
Project description:Cervical dystonia, also known as spasmodic torticollis, is a chronic disorder in which patients exhibit involuntary repetitive contractions of neck muscles resulting in abnormal postures or movements. Occasionally, there is also a dystonic head tremor. The underlying mechanisms for cervical dystonia and dystonic tremor are not clear, and treatments are limited.In the present cases, two females with head tremor starting in adolescence developed worsening symptoms of cervical dystonia with dystonic tremor in their 60s. On osteopathic physical examination, both had a vertical type strain to the sphenobasilar synchondrosis.Vertical strains are more frequently found in patients after head trauma, congenital or later in life, than in healthy patients, and head trauma may have been a precipitating factor in these patients. There were improvements in cervical dystonia symptoms, including tremor, in both patients after osteopathic manual treatment.
| S-EPMC5243944 | biostudies-other
Project description:BACKGROUND:To report three cases of nontuberculous mycobacterial (NTM) endophthalmitis following multiple ocular surgeries and to review previous literature in order to study the clinical profile, treatment modalities, and visual outcomes among patients with NTM endophthalmitis. METHODS:Clinical manifestation and management of patients with NTM endophthalmitis in the Department of Ophthalmology, Faculty of Medicine, Siriraj hospital, Mahidol University, Bangkok, Thailand were described. In addition, a review of previously reported cases and case series from MEDLINE, EMBASE, and CENTRAL was performed. The clinical information and type of NTM from the previous studies and our cases were summarized. RESULTS:We reported three cases of NTM endophthalmitis caused by M. haemophilum, M. fortuitum and M. abscessus and a summarized review of 112 additional cases previously published. Of 115 patients, there were 101 exogenous endophthalmitis (87.8%) and 14 endogenous endophthalmitis (12.2%). The patients' age ranged from 13 to 89?years with mean of 60.5?±?17.7?years with no gender predominance. Exogenous endophthalmitis occurred in both healthy and immunocompromised hosts, mainly caused by cataract surgery (67.3%). In contrast, almost all endogenous endophthalmitis patients were immunocompromised. Among all patients, previous history of tuberculosis infection was identified in 4 cases (3.5%). Rapid growing NTMs were responsible for exogenous endophthalmitis, while endogenous endophthalmitis were commonly caused by slow growers. Treatment regimens consisted of macrolides, fluoroquinolones or aminoglycosides, which were continued for up to 12?months. Initial and final vision were generally worse than 6/60. CONCLUSIONS:NTM endophthalmitis is a serious intraocular infection that leads to irreversible loss of vision. The presentation can mimic a chronic recurrent or persistent intraocular inflammation. History of multiple intraocular surgeries or immune-deficiency in patient with chronic panuveitis should raise the practioner's suspicion of NTM endophthalmitis. Appropriate diagnosis and treatment are important to optimize visual outcome.
| S-EPMC7685667 | biostudies-literature