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:IntroductionDystonia is the third most common pediatric movement disorder and is often difficult to treat. Deep brain stimulation (DBS) of the internal pallidum (GPi) has been demonstrated as a safe and effective treatment for genetic dystonia in adolescents and adults. The results of DBS in children are limited to individual cases or case series, although it has been proven to be an effective procedure in carefully selected pediatric cohorts. The aim of our study was to present the treatment outcome for 7- to 9-year-old pediatric patients with disabling monogenic isolated generalized DYT-THAP1 and DYT-KMT2B dystonia after bilateral GPi-DBS.Patients and resultsWe present three boys aged <10 years; two siblings with disabling generalized DYT-THAP1 dystonia and a boy with monogenic-complex DYT-KMT2B. Dystonia onset occurred between the ages of 3 and 6. Significantly disabled children were mostly dependent on their parents. Pharmacotherapy was inefficient and patients underwent bilateral GPi-DBS. Clinical signs of dystonia improved significantly in the first month after the implantation and continued to maintain improved motor functions, which were found to have improved further at follow-up. These patients were ambulant without support and included in everyday activities. All patients had significantly lower Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) values, indicating >25% improvement over the first 15 months. However, there was a decline in speech and upper limb function, manifesting with bradylalia, bradykinesia, and dysphonia, which decreased after treatment with trihexyphenidyl.ConclusionAlthough reports of patients with monogenic dystonia, particularly DYT-THAP1, treated with DBS are still scarce, DBS should be considered as an efficient treatment approach in children with pharmacoresistent dystonia, especially with generalized monogenic dystonia and to prevent severe and disabling symptoms that reduce the quality of life, including emotional and social aspects. Patients require an individual approach and parents should be properly informed about expectations and possible outcomes, including relapses and impairments, in addition to DBS responsiveness and related improvements. Furthermore, early genetic diagnosis and the provision of appropriate treatments, including DBS, are mandatory for preventing severe neurologic impairments.
| S-EPMC10166204 | biostudies-literature
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:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
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:Bronchogenic cysts are congenital malformations caused by aberrant foregut budding. They major occur in the thorax, with subdiaphragmatic cases being uncommon. Here, we present a series of 19 patients diagnosed with subdiaphragmatic bronchogenic cysts histopathologically at a single institution in China from 2012 to 2021. A literature review was also conducted by searching the PubMed database using keywords related to "bronchogenic cysts" and "subdiaphragmatic," yielding 107 cases. Taken together, the 126 cases had a median age of 41.0 years (interquartile range, 30.0-51.0 years) and 62 of them were male (49.2%). The cysts were most commonly detected in the left adrenal region (36.2%), followed by the pancreatic region (11.5%) and gastric cardia/lesser curvature of the stomach (9.2%). All patients except two underwent surgery for a definite diagnosis, symptom alleviation, and (or) malignancy prevention. Most patients recovered fast and were discharged from the hospital within 1 week after surgery, and the surgical complications were infrequent. The prognosis was generally favorable, as no recurrence was reported during the follow-up as long as 77 months.
| S-EPMC9581013 | biostudies-literature