Common Differential Diagnoses Research Articles

SIX1 as a Novel Immunohistochemical Marker in the Differential Diagnosis of Rhabdomyosarcoma

Background: Differential diagnosis of rhabdomyosarcoma (RMS) is challenging. Sineoculis homeobox homolog 1 (SIX1) is an oncogene involved in skeletal muscle differentiation. We compared protein expression patterns of SIX1 in RMS and its most common differential diagnoses. Methods: SIX1 immunohistochemistry in 36 RMS and in 33 tumors from seven differential diagnostic subtypes were evaluated. The fraction of SIX1 positive tumor cells was scored by three independent observers. Results: A majority (75%) of the evaluated RMS expressed SIX1 in at least 50% of tumor cells and all except one RMS had more than 25% positive tumor cells. Neuroblastoma had less than 1% SIX1 positive tumor cells. Gonadoblastoma, malignant rhabdoid tumor, and Ewing sarcoma had 10% or less positive tumor cells. Pleuropulmonary blastoma exhibited 26–50% positive tumor cells and synovial sarcoma >50% positive cells. Conclusion: SIX1 immunohistochemistry is positive in most RMS, and occasionally in some tumors within the differential diagnoses of RMS.

Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program.

Congenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along with variable degrees of cortisol and aldosterone deficiency. The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome and should be actively evaluated during initial studies of clinical or biochemical hyperandrogenism. The main goals of CAH treatment are hormone supplementation for severe cases, controlling adrenal androgen overproduction to minimize long-term side effects, managing fertility and genetic counseling, and optimizing patients' quality of life.

Diagnosis and Treatment of Skipped Multifocal Spinal Tuberculosis Lesions.

Spinal tuberculosis, also known as Pott's disease or tuberculous spondylitis, is usually secondary to primary infection in the lungs or other systems, and in most instances, is thought to be transmitted via blood. Typical manifestations of infection include narrowing of the intervertebral disc by erosion and bone destruction of adjacent vertebrae. Atypical spinal tuberculosis is a specific type of spinal tuberculosis. It mainly consists of single vertebral lesions, single posterior structure lesions, multiple vertebral lesions, and intra-spinal lesions. Skipped multifocal spinal tuberculosis is one of these types and is characterized by two or more vertebral lesions without the involvement of the adjoining intervertebral discs, regardless of their location. To date, only a few cases have been reported. Upon clinical admission, it can be treated conservatively or surgically, depending on the patient's symptoms. In addition, gene or biological therapies are being investigated. However, because of the exceptional imaging findings and insidious symptoms, it is often misdiagnosed as a neoplastic lesion, osteoporotic fracture, or other infectious spondylitis, increasing the risk of neurological deficit and kyphotic deformity, and delaying the optimal treatment window. In this study, we review the diagnosis and treatment strategies for skipped multifocal spinal tuberculosis lesions and enumerate the common differential diagnoses, to provide reference and guidance for clinical treatment and diagnosis direction.

Pagetoid Spread in Basal Cell Carcinoma: Potential for Misdiagnosis.

Basal cell carcinomas are one of the most common cutaneous carcinomas and show classical histologic features of basaloid nests with peripheral palisading. Pagetoid and intraepidermal spread has not been described in basal cell carcinoma to the best of our knowledge. We report 5 cases of basal cell carcinoma with classic histologic patterns and overlying basaloid nests and single intraepidermal tumor cells. A panel of immunostains were performed that included CK7, MOC31, CEA-m, EMA, androgen receptor, and Bcl2. Most of our cases were positive for both MOC31 and CK7, and all cases were negative for CEA-m and EMA excluding extramammary Paget disease, one of the most common differential diagnoses. These cases expand the spectrum of findings that can be seen in basal cell carcinoma and can help prevent misdiagnoses of basal cell carcinomas as more aggressive tumors.

Characterization of the diagnostic criteria for Behcet’s disease

Aim . To present the diagnostic criteria for Behcet’s disease and its frequency in the structure of systemic vasculitis. Materials and methods . The material for the study was the medical documentation of n=101 patients with suspected BD who were referred to the rheumatology department of the NMC “Shifobakhsh” for the period of 2017-2022. Information was collected on the speciality of the referring physician, and demographic data were recorded, including age, gender, and ethnicity. A complete history of current symptoms was obtained, which included the type, severity, and duration of symptoms, as well as a family history of BD. Subsequently, all patients were examined by a group of multidisciplinary experts, including rheumatologists, dermatologists and ophthalmologists. All patients underwent the Pathergy test. Results . Of the total list of referred patients, 54 (53.5%) were women, and 47 (46.5%) were men. General practitioners were the most common speciality of attending physicians (33.7%) referring patients with suspected BD, followed by dentists (18.8%), ophthalmologists (16.8%) and rheumatologists 12.9%. The most common symptom referred for was oral lesions in 85.1%, followed by eye lesions in 31.7% and genital lesions in 22.8%. Out of 101 patients, 42.6% were diagnosed with BD, 18.8% had a probable diagnosis, and in 38.6% of patients, BD was ruled out. In patients who did not receive a diagnosis of BD, simple aphthous lesions were most common in 23.1%, followed by lichen planus in 4 (10.3%) and isolated eye involvement in 3 (7.7%). Conclusion . BD can mimic several other disease processes as it manifests itself through non-specific changes in several organ systems. A constellation of findings put together eventually leads to a diagnosis. The results of this study can be used by rheumatologists who deal daily with patients with a high probability of BD and atypical manifestations. However, the alternative diagnoses established in this study can be used as a list of the most common differential diagnoses for systemic vasculitis.

Primary skin abscess microbiota a systematic review.

An abscess is a collection of pus forming a cavity in the tissue, for example, the skin. They are generally perceived as the result of infection but infection is not mandatory for the diagnosis. Skin abscesses may occur independently (primary) or be part of other diseases such as the recurrent inflammatory skin disease hidradenitis suppurativa (HS). HS is noninfectious but nevertheless abscesses are a common differential diagnosis. The purpose of this study is to review the microbiome of bacteria positive primary skin abscesses in order to explore the reported microbiota. EMBASE, MEDLINER, and COCHRANE LIBRABRY were searched on 9th of October 2021 for microbiome, skin, and abscesses. Studies with more than 10 patients reporting the microbiome in human skin-abscesses were included and studies with abscess microbiota sampled from HS patients, microbiota not sampled from skin-abscesses, missing information on microbiome data, sampling bias, studies in other language than English or Danish, reviews and meta-analyses were excluded. In total 11 studies were included for further analysis. S.aureus is likely to dominate the microbiome of bacteria positive primary skin abscesses in contrast to the polymicrobial microbiome of HS.

Looking beyond Piriformis Syndrome: Is It Really the Piriformis?

Piriformis syndrome is a common differential diagnosis related to sciatica. The following review provides a concise synopsis of the diagnosis, management, history, and alternatives to diagnosis of piriformis syndrome. A search of the literature for research articles related to piriformis syndrome and associated differential diagnosis of sciatica was conducted. A thorough review of the included articles found that the condition known as piriformis syndrome is over-diagnosed and that potential anatomic and biomechanical variations originating in the pelvic region might be related to the complaint of sciatica. The criteria for diagnosis are based on findings from both physical examination and radio imaging. Piriformis syndrome resembles a variety of clinical conditions; therefore, conduct of future studies should include development of a validated method for evaluation as well as clinical criteria for diagnosis of piriformis syndrome.

Protocolo diagnóstico de las afectaciones inflamatorias troncoencefálicas de etiología incierta

The presentation of a patient with brainstem signs and symptoms requires a series of common and less common differential diagnoses. An accurate diagnosis can be a challenge. We review the principal inflammatory and immune-mediated syndromes that may affect the brainstem, including multiple sclerosis, neuromyelitis optica spectrum disorder, neuro-Behçet's disease, chronic lymphocytic inflammation with pontine perivascular enhancement that responds to steroids (CLIPPERS), neurosarcoidosis, and Susac syndrome. We focus on the clinical characteristics and magnetic resonance imaging clues that help distinguish between the different brainstem diseases. A precise diagnosis is important for guiding appropriate treatment and limiting neurological disability.

Giant cell tumor of soft tissue: A case report

Giant cell tumor of soft tissue (GCT-ST) is a rare primary neoplasm of soft tissues. It usually involves superficial and deeper soft tissues of upper and lower extremities, followed by trunk. A 28-year-old female, presented with a painful mass in left abdominal wall for three months. On examination, it measured 4×4cm with ill-defined margins. CECT showed ill-defined enhancing lesion deep to muscle planes with possible invasion of peritoneal layer. Histopathology showed multinodular architecture with intervening fibrous septa and metaplastic bony tissue encasing the tumor. Tumor composed of round to oval mononuclear cells and osteoclast like multinucleated giant cells. Mitotic figures were eight per hpf. A diagnosis GCT-ST of anterior abdominal wall was made. Patient was treated with surgery followed by adjuvant radiotherapy. Patient is disease free at one year follow up. These tumors mostly involve extremities and trunk and usually presents as a painless mass. Clinical features depend upon the exact location of the tumor. Common differential diagnosis includes tenosynovial giant cell tumors and malignant giant cell tumors of soft tissue and GCT of Bone. Diagnosis of GCT-ST is difficult on cytopathology and radiology alone. Histopathological diagnosis should be done to rule out the malignant lesions. Complete surgical resection with clear resection margins is the mainstay of treatment. Adjuvant radiotherapy should be considered in case of incomplete resection. Long follow-up is necessary for these tumors as local recurrence and risk of metastasis cannot be predicted.

Canine Alveolar Echinococcosis: An Emerging and Costly Introduced Problem in North America

Alveolar echinococcosis (AE), caused by the metacestode of Echinococcus multilocularis, is emerging in both dogs and people in North America. Here, we review 27 cases of canine AE opportunistically reported since the index case was described in 2009 in Western Canada. We describe clinical presentation, diagnosis, treatment, outcome, and source of canine infection, based on genetics of the parasite isolated from some canine cases. Diagnosis of AE was by histopathology and/or PCR on DNA extracted from metacestodes. The median age of dogs at diagnosis was 4 years (range 1–12), which is low compared to neoplasia, the most common differential diagnosis. There was no sex predilection and different breeds were involved, but there were a disproportionate number of boxers and beagles relative to their representation in the general canine population. The most common potential risk factors included contact with wildlife and visits to off leash areas. Abdominal distension was the most common clinical sign at presentation, and medical imaging generally revealed an abdominal mass. On histopathology, protoscoleces were observed in 7 out of 14 dogs. In 7 cases, DNA sequences were most similar to European (versus North American) haplotypes, identical to those recently reported in coyotes as definitive hosts in North America, and different between eastern and western North America, implying multiple introduction events. Dogs that were not treated (n = 6) had 16% survival in the first 100 days in comparison with 82% survival of treated dogs (n = 11). Direct costs to the owner of treating canine AE ranged from 1,317 to 12,655 CAD depending on the situation at the onset of treatment. This study provides important clinical, epidemiological, and economic information for veterinary practitioners and regulators for importation of dogs, and for public health, as dogs with AE may serve as indicators of parasite range expansion and risk to humans.

Retrospective Review of 80 Patients with Chronic Recurrent Multifocal Osteomyelitis Evaluated by Pediatric Orthopaedic Surgeons

Background: Chronic Recurrent Multifocal Osteomyelitis (CRMO) is a rare aseptic autoinflammatory disease with a wide and vague clinical presentation that often mimics infection, malignancy, or benign conditions, leading to a delayed diagnosis. We aimed to evaluate the clinical characteristics, differential diagnoses from evaluating pediatric orthopaedic surgeons, and compared the number of patients that could have avoided a biopsy in 80 patients with CRMO.Methods: Children diagnosed with CRMO at a single tertiary pediatric hospital in the United States between 2012 and 2022 who were evaluated by a pediatric orthopaedic surgeon were retrospectively reviewed. The differential diagnoses from the surgeons were recorded from their initial presentation. The Jansson criteria and Bristol Criteria were retrospectively applied to evaluate patients who could have been spared a biopsy.Results: 80 children (65% female) with CRMO were identified. The mean age at diagnosis was 10.28 ± 3.52 years, follow-up of 37.13 ± 27.67 months, and delay in diagnosis of 6.21 ± 9.75 months. Common presenting symptoms were antalgic gait (45%), local inflammation (30%), and fever/fatigue (26.25%). 58% presented clinically with unifocal symptoms, but 81% had multifocal disease on imaging. Radiographs were unremarkable in 35%, had periosteal reaction/sclerosis (23%), or a lytic lesion (22%). On MRI, 72% of patients had marrow edema, periosteal reaction (23%), and/or osteitis (19%). 69% of patients received a whole-body MRI, and 75% received a bone biopsy. The femur, tibia, pelvis, and spine were involved in >30% of patients. The most common initial differential diagnoses were related to infection (34%) and neoplasm (21%). The Jansson criteria was found to be more sensitive than the Bristol criteria for diagnosing CRMO (OR 3.94, P < 0.001) and identified 80% that could have been spared biopsy.Conclusions: This cohort of 80 patients with CRMO in the U.S. displayed an ambiguous presentation. Whole-body MRI was useful for identifying multifocal lesions. In conjunction with clinical reasoning, the Jansson criteria may be useful in the diagnosis of CRMO and perhaps avoid an unnecessary bone biopsy.Levels of Evidence: Level IVKey Concepts•Chronic Recurrent Multifocal Osteomyelitis is a rare condition in children with a delay in definitive diagnosis of approximately 6 months after initial presentation.•Chronic Recurrent Multifocal Osteomyelitis often has unremarkable radiographs and MRI findings similar to a neoplasm or infectious osteomyelitis.•The most common lesions were found in the femur, tibia, pelvis, and spine.•Pediatric orthopaedic surgeons evaluating these patients placed neoplasm/malignancy and infection on their differential most frequently.•The Jansson criteria may be used in some patients to possibly prevent unnecessary bone biopsies.

Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.

Untreated vitamin B12 (B12) deficiency may cause delayed development in infants. Several newborn screening (NBS) programs have reported an increased detection rate of B12 deficiency when second-tier dried blood spot (DBS) analyses of total homocysteine (tHcy) and methylmalonic acid (MMA) are included. This is a retrospective study of newborns reported from NBS during 2012−2021 with confirmed B12 deficiency. DBSs were retrieved from the NBS biobank for second-tier MMA and tHcy analysis. Thirty-one newborns were diagnosed with B12 deficiency out of 552970 screened. Twenty-five were ascertained from sixty-one false positive (FP) cases of methylmalonic acidemia and propionic acidemia (PA), and six infants screened positive for other NBS metabolic diseases with propionylcarnitine (C3) in the normal range. In the original DBS, 7/23 (30%) and 12/23 (52%) of B12-deficient newborns with FP methylmalonic acidemia/PA had MMA and tHcy > 99th percentile. B12 deficiency was a common differential diagnosis of screening positive for methylmalonic and PA. C3 failed to identify a subset of newborns with B12 deficiency. Second-tier MMA and tHcy analyses in the DBS showed suboptimal sensitivity for identifying infants with B12 deficiency. The shortcomings of NBS should be acknowledged when considering B12 deficiency as a primary target of NBS panels.

Thyrotoxic periodic paralysis together with thyrotoxic heart disease in a Ghanaian man: case report and literature review

&lt;abstract&gt; &lt;p&gt;Thyrotoxic periodic paralysis (TPP) is an uncommon symmetrical paralysis usually affecting proximal muscles, which occurs in the hyperthyroid state with associated hypokalemia. It is more prevalent in East Asian males and extremely rare in blacks. Data on TPP is scarce in Africa and no report has been made in Ghana. We report a case of a middle-aged Ghanaian man who had three episodes of paralysis in all four limbs occurring at night with the second and third episodes requiring hospital visit. He had no clinical signs of hyperthyroidism during his first hospital visit but had developed clinical and biochemical evidence of hyperthyroidism on the second visit with serum potassium levels of 1.9 mmol/l; and he was eventually diagnosed with TPP. His paralysis resolved with correction of the hypokalemia. It is important to evaluate patients presenting with paralysis comprehensively. Less common differential diagnosis such as TPP may also be considered in such patients to ensure early diagnosis and treatment which can prevent complications.&lt;/p&gt; &lt;/abstract&gt;

Epidemiology of Mucoepidermoid Carcinoma of Minor Salivary Glands: A Single-Institution Experience in Mumbai, Maharashtra over 20 Years

Introduction: Encountering a soft tissue swelling in the oral cavity during routine dental practice is infrequent yet practical. Salivary gland tumours of the oral mucosa are associated with minor salivary glands, although they are uncommon and can be considered as a differential diagnosis. Mucoepidermoid Carcinoma (MEC) constitutes a significant percentage of salivary gland tumours of minor salivary glands and exhibits varied biological behaviour. Aim: The aim of the present study was to investigate the clinical and histological characteristics of MEC of the minor salivary glands to comprehend the epidemiological pattern of these tumours and compare the findings with those of other studies. Materials and Methods: For this cross-sectional study, data on salivary gland tumours were accessed from the Department of Oral Pathology and Microbiology, Government Dental College and Hospital, Mumbai, archives spanning from 2003 to 2022 (a 20-year period). Out of the 22 reported cases of salivary gland tumours, 12 cases were identified as MEC. Clinical details and slides of these MEC cases were obtained from the departmental archives and graded according to Brandwein MS grading. The patients’ clinical features were described through descriptive analysis using SPSS software. Results: Based on gender distribution, there were 8 (66.66%) females and 4 (33.33%) males. The age distribution of the patients revealed that the maximum number of patients (n=4, 33.33%) belonged to the 4th decade of life. The site involvement, in ascending order, included the palate (n=10; 83.83%), alveolus (n=1), and upper anterior gingiva (n=1). Regarding laterality, 7 (58.33%) cases were on the right-side, and 5 (41.66%) were on the left-side of the palate. Conclusion: The study found that females in their 4th decade were commonly affected, with the palate being the most commonly affected site. MEC is one of the common differential diagnosis to consider, and its aggressiveness and treatment planning are related to histological grading. Therefore, epidemiological studies from different parts of the globe are needed to provide a better understanding of the lesion’s biological behaviour, common sites, gender, and age predilection.

Challenges in the Differential Diagnosis of COVID-19 Pneumonia: A Pictorial Review.

COVID-19 pneumonia represents a maximum medical challenge due to the virus's high contagiousness, morbidity, and mortality and the still limited possibilities of the health systems. The literature has primarily focused on the diagnosis, clinical-radiological aspects of COVID-19 pneumonia, and the most common possible differential diagnoses. Still, few studies have investigated the rare differential diagnoses of COVID-19 pneumonia or its overlap with other pre-existing lung pathologies. This article presents the main radiological features of COVID-19 pneumonia and the most common alternative diagnoses to establish the vital radiological criteria for a differential diagnosis between COVID-19 pneumonia and other lung pathologies with similar imaging appearance. The differential diagnosis of COVID-19 pneumonia is challenging because there may be standard radiologic features such as ground-glass opacities, crazy paving patterns, and consolidations. A multidisciplinary approach is crucial to define a correct final diagnosis, as an overlap of COVID-19 pneumonia with pre-existing lung diseases is often possible and suggests possible differential diagnoses. An optimal evaluation of HRTC can help limit the clinical evolution of the disease, promote therapy for patients and ensure an efficient allocation of human and economic resources.

Dermatopathological Correlation of Clinically Challenging Cutaneous Lesions: a Single Center Experience of 2184 Cases.

Although a trained eye can easily identify typical skin lesions, histopathological examination and clinicopathological correlation are critical in challenging cases. The primary objective is to organize the final diagnoses reached following clinicopathological consensus in clinically challenging cutaneous lesions, identifying the most common diagnostic scenarios encountered by dermatopathologists and discussing their diverse differentials submitted by clinicians. The secondary objective is to investigate how the case profile and clinician decision-making processes evolved during the COVID-19 pandemic. Skin and mucosa samples collected by the dermatology department between 2016 and 2020 were classified based on pathology reports. For frequent diagnoses, preliminary diagnoses stated by clinicians on pathology requisition forms were reviewed. The years preceding and following the first nationally reported COVID-19 case were compared to investigate the pandemic's impact on the distribution of dermatology and dermatopathology cases. One thousand nine hundred and eighty-nine reports were classified into 4 major categories: inflammatory (49.8%), neoplastic (30.1%), other diseases (7.1%), and non-diagnostic (12.8%). We further classified inflammatory diseases based on major tissue reaction patterns and neoplasms based on cell origin. We analyzed the leading diagnoses in each category, discussed their differential diagnoses, and provided clinicians with clues to reduce errors in practice. Following the pandemic, the overall number of pathology reports and patient admissions dropped dramatically, with significant changes in case profiles. We presented and discussed the frequently encountered confounding cases to sketch the diagnostic landscape. In the authors' experience, clinicopathological correlation can increase the rate of reaching the diagnosis by up to 75.3%.

72 Distinguishing features of MIS-C to other paediatric febrile diseases in the acute setting

BackgroundMultisystem inflammatory syndrome in children (MIS-C) presents with fever, shock, rash, abdominal pain and raised inflammatory markers, as well as common features of inflammatory childhood illnesses. In the acute setting, especially in countries where infectious diseases are common differential diagnoses, it is challenging to diagnose MIS-C. Therefore, data differentiating MIS-C from other inflammatory and/or febrile diseases at presentation is needed.MethodsProspective data was collected from children admitted to the Red Cross War Memorial Children’s Hospital in Cape Town, South Africa from May 2020 to end November 2021 where MIS-C was part of their differential diagnoses. Clinical features on the day of admission were compared between children with confirmed MIS-C (MIS-C+) and those with alternate diagnoses (MIS-C-).ResultsIn this time period, 60 children were MIS-C+ and 34 were MIS-C-. There was no significant difference in age (p = 0.321), sex (p = 0.525), ethnicity (p = 0.279), or in the frequency of comorbidities (p = 0.151) between the two groups. The presence of conjunctivitis (OR = 8.12), rash (OR = 8.67), tachycardia (OR = 2.8) and oral mucositis (OR = 3.75) was associated with MIS-C+ while abdominal pain and hypotension were not. MIS-C+ had statistically higher median C-reactive protein (CRP), pro-brain natriuretic protein (pro-BNP) and ferritin, and lower median lymphocyte count, platelet count and sodium levels than MIS-C-. Ferritin discriminated MIS-C+ well (AUC = 0.86) with a 94% sensitivity and 60% specificity at a cut off of > 195ng/l. Sodium had an AUC of 0.72, with a 70% sensitivity and 71% specificity at a cut off of < 132.5 mmol/l. CRP did not distinguish MIS-C well (AUC = 0.52) and although they had good AUC, platelet count and pro-BNP had cut off values in the normal range decreasing clinical utility.ConclusionWe provide evidence for the use of accessible clinical and laboratory variables for the diagnosis of MIS-C in diverse settings.ImplicationsThese data will aid clinicians to do a rapid diagnosis (and ultimately treat earlier) of patients with MIS-C in the acute setting, especially those in under-resourced settings. 72 Table 4ROC analysis of laboratory tests which were different between MIS-C- and MIS-C+Test AUC (95%CI) p Potential cut-off value Sensitivity Specificity Youden ratio Ferritin 0.86 (0.70, 1) 0.017 *>19594%60% 54% 7-84 ng/L ** >31672%80% 52% Pro-BNP 0.80 (0.62, 0.98) 0.044 *>23983%40%23%<450 ng/L ** >37878%80% 57% Platelet count 0.75 (0.59, 0.90) 0.006 *<285 81% 71% 52% 180-440 x109/LSodium 0.726 (0.56, 0.88) 0.014 *<134.587%35.7%22%136-145 mmol/L ** <132.570%71%41%CRP0.54 (0.62, 0.98) 0.766 *>77100%40%40%<10 mg/L ** >161.550%60%10%2 potentials cut off values are given.*the value which gives the best specificity with a sensitivity >80% and.**the value that achieves the best sensitivity with a specificity of at least 60%.

CARDIAC SARCOIDOSIS: WHEN THE RIGHT VENTRICLE ISN’T RIGHT

CARDIAC SARCOIDOSIS: WHEN THE RIGHT VENTRICLE ISN’T RIGHT

Diagnosis and Treatment of Essential Tremor.

Essential tremor is a chronic, progressive syndrome that primarily presents with an action tremor involving the arms and hands. This article reviews the history and physical examination features pertinent for diagnosis, differential diagnoses, and treatments and approaches for optimal control of symptoms. Essential tremor is a syndrome with symptoms extending beyond tremor to involve disturbances in gait, speech, cognition, and mood. Although the new guidelines on the definition and biaxial classification scheme have provided clarity, some tremor experts have critiqued the recently coined term essential tremor plus. For treatment, new orthotic devices and peripheral stimulation devices are now available in addition to pharmacologic and surgical options. Essential tremor has a rich clinical phenomenology with many subtleties and nuances. A detailed history with open-ended questions and focused questions encompassing medical history, social history, and family history is key for establishing the diagnosis. The presence of bilateral action tremor for 3 years and absence of isolated head and voice tremor and absence of task- and position-dependent tremor are necessary for diagnosis. Dystonic tremor, Parkinson disease tremor, physiologic tremor, and drug-induced tremor are common differential diagnoses. Differentiating these tremor disorders from essential tremor based on phenomenology and physical examination alone could be challenging; thus, clinicians should seek additional clues from a detailed history. Treatment could begin with noninvasive and nonpharmacologic therapies, especially in mild cases. As the severity increases, they can advance stepwise to include pharmacotherapies and surgical interventions. With the growing recognition that essential tremor is not a monosymptomatic disorder, management should involve a multidisciplinary team. Furthermore, treatment selection should be based on shared decision making between patients and providers that gives due consideration to severity of symptoms, level of functional disability, impact on social interactions, patient preferences, and patient expectations.

Multiple Schwannomas Arising in the Midline Space Between the Bilateral Genioglossus Muscles and Left Submandibular Space.

Schwannomas mostly occur as solitary tumors, and multiple schwannomas are very rare. Schwannomas in the submandibular space are extremely rare. Furthermore, schwannomas in the midline space between the bilateral genioglossus muscles are even rarer. We report multiple schwannomas arising in the midline space between the bilateral genioglossus muscles and left submandibular space. Because the common differential diagnosis of the midline deep sublingual lesions does not include schwannoma for the rarity, surgeons should consider schwannoma in the differential diagnosis.