Pathognomonic Signs Research Articles

DETEKSI DAN DIAGNOSIS TUBERKULOSIS LARING

Laryngeal tuberculosis, a form of extrapulmonary tuberculosis is prevalent less than 2% in Indonesia. Indonesia continues to be the second-highest tuberculosis-endemic country in the world, with more than 700,000 cases in 2022 and more than 600,000 cases in 2023. Of these cases, only 8% are extrapulmonary. In head and neck tuberculosis, laryngeal tuberculosis is the second most common manifestation after cervical lymphadenopathy tuberculosis. However, these numbers are expected to be underreported and underestimated in Indonesia. Misdiagnosis often occurs in highly contagious laryngeal tuberculosis due to lacking pathognomonic signs and symptoms. Furthermore, the high frequency of tuberculosis in productive age groups, particularly those aged 15 to 54 years, results in enormous catastrophic expenses for affected individuals, as well as a financial burden on the government. Considering the fore mentioned, a comprehensive systematic review of such rare case is required. This review aims to facilitate and provide an update on early detection and diagnosis of laryngeal tuberculosis to appropriate and prompt management.

ALAGILLE SYNDROME IN THE MODERN VIEW OF A MULTIDISCIPLINARY APPROACH TO THE PROBLEM

Introduction. Alagille syndrome (AS) is a syndrome of a decrease in the number of interlobular cells bile ducts, also known as arteriohepatic dysplasia. AS is a genetic multisystemic autosomal dominant disorder with highly variable manifestations, predominantly affecting the liver, heart, face, skeleton and other anomalies may include. Aim. Literature review and analysis of our own experience to update the current knowledge about AS. To introduce new diagnostic and treatment methods, taking into account the need and importance of a systemic multidisciplinary approach to the management of patients with Alaghil syndrome. Pathogenesis. AS, or Watson-Miller syndrome, is a rare disorder caused by mutation of the Jagged1 (JAG1) gene - AGS type 1, and in 2% of cases by mutation of the NOTCH2 gene - AGS type 2, with autosomal dominant inheritance. Mutations of the JAG1 or NOTCH2 genes cause defects in bile duct morphogenesis and angiogenesis, as well as abnormalities of the skeleton, eyes, cardiovascular system, and kidneys. Diagnostics. Since AS manifests itself in different ways, it can be suspected in all age groups and, depending on the variability of symptoms, can be diagnosed by any specialist - neonatologist, pediatrician, ophthalmologist, surgeon, cardiologist, etc. The main diagnostic criteria are primarily liver pathology. The main diagnostic criteria are primarily attributed to liver pathology, 75-100% of cases are hypoplasia of bile ducts, absence of intralobular bile duct, which is clinically manifested by significant persistent cholestasis. The next strong sign of AS is the combination of cholestasis with cardiovascular abnormalities in 85-95% of cases. The most common is stenosis of the peripheral pulmonary arteries or ventricular septal defect, atrial septal defect, tetralogy of Fallot, pulmonary atresia, etc. Other typical anomalies include skeletal pathologies, which occur in 33-80% of affected children. These are "butterfly" vertebrae, inferiorly formed vertebrae, fusion of vertebrae, spina bifida. In the AS group, the frequency of urinary system abnormalities is 20-70% according to the data, they affect the ureters, bladder and pelvis disorders, renal tubular acidosis, etc. In 55-75% of patients with AS there are ocular changes - pigmentary retinopathy, retinal angle vessels, posterior embryotoxon, optic drusen. In 15-35% of patients there are anomalies of peripheral vessels - aneurysms of cerebral vessels, stenosis of internal carotid artery, Moya-Moya disease, as well as anomalies of vessels of abdominal cavity: coarctation of abdominal aorta, stenosis of renal artery. However, the pathognomonic signs of AS include characteristic facial features - 70-95% of patients have a wide forehead, deep-set eyes, slanting upward slits, protruding ears, a straight nose with a bulbous tip, a pointed chin with the effect of a triangular face. Clinical manifestations. In 80-100% of patients with AS, the first clinical manifestation is liver failure of various stages. In neonates and young patients, cholestasis is present with a clinical picture very similar to that of biliary atresia. Jaundice appears on the 2nd or 3rd day of life, i.e. in normal physiological days jaundice period. About 2/3 of the patients studied by us had "light interval" - a decrease in the intensity of jaundice until the end of the 1-2 weeks of life and the following month its gradual increase and the appearance of a greenish tint. Acholia is the earliest and most constant clinical symptom of the disease. It is characterized by the absence of hepatomegaly at birth, followed by an increase in the size of the liver and a change in its consistency from elastic to dense during the first 2 months of life. At about 1 month of life, the development of a hemorrhagic syndrome is possible (bleeding from the mucous membranes of the gastrointestinal tract, umbilical wound, intracranial hemorrhages), which is due to a deficiency of vitamin K-dependent blood coagulation factors as a result of a violation of the processes of absorption of vitamin K in the intestine, which we observed in 3 patients. By 5 years of age, 15-30% of children with AS develop acute liver failure and portal hypertension. Treatment. The main goal of treating a child with AS is to relieve cholestasis and reduce the debilitating symptoms of pruritus. Ursodeoxycholic acid is used, cholestyramine, rifampicin, ondansetron, naltrexone, etc. may be added. It was absolutely revealing the inclusion of marlioxibat, which acts on the inhibitors of transporters of bile acids in the upper parts of the ileum. Liver transplantation, as a rule, becomes necessary in some patients with AS, which meets end-stage liver failure and severe portal hypertension. Another indication for transplantation is hepatocellular carcinoma. According to our experience and data from other centers, transplantation completely solves these problems and has a successful outcome, as it has been proven that AS does not recur in the transplant.

Complications of Caroli's Disease: Two Case Reports and a Literature Review

Caroli's disease is a rare congenital disorder of the bile ducts, characterized by intrahepatic segmental dilatation. It can remain asymptomatic for many years. Imaging, especially hepatobiliary MRI, plays a central role in diagnosis, identifying pathognomonic signs (Dot-sign, cyst communication with bile ducts), and monitoring complications. Treatment primarily involves surgery, ranging from partial resection to liver transplantation for diffuse forms. This article presents two cases: one involving an association with cholangiocarcinoma and another complicated by intrahepatic stones and cholangitis. These cases highlight the major complications, diagnostic approaches, and therapeutic strategies for this rare condition.

К ВОПРОСУ СОВЕРШЕНСТВОВАНИЯ ВЕТЕРИНАРНО-САНИТАРНОЙ ЭКСПЕРТИЗЫ ПРОДУКТОВ УБОЯ ЖИВОТНЫХ ПРИ ОТДЕЛЬНЫХ БОЛЕЗНЯХ

The article provides recommendations to veterinary specialists of all slaughterhouses to diagnose zooanthroponotic diseases in a timely manner, taking into account pathognomonic signs, and prohibit the release of slaughter products without restriction in an untreated form and send them for processing, providing for thermal effects of at least 75 °With or without welding. The sale of meat in markets and other trading enterprises from animals, patients and suspected diseases such as leptospirosis, listeriosis, actinobacillosis, adenomatosis, pseudotuberculosis, aspergillosis and visnamedi should not be allowed and should be reflected in the veterinary examination report (form 5- vet).

Prospective Controlled Study of Endoscopic Botulinum Toxin Injection for Retrograde Cricopharyngeus Dysfunction: The Inability to Belch Syndrome.

Complete inability to belch due to retrograde cricopharyngeus dysfunction (R-CPD) may lead to chronic gas-related gastrointestinal complaints. We aimed to validate high-resolution manometric (HRM) diagnostic criteria and prospectively evaluate the feasibility and efficacy of cricopharyngeal botulinum toxin injection (CBTI) by flexible endoscopy. Consecutive manometrically diagnosed patients with R-CPD were included. Asymptomatic volunteers were also included for diagnostic validation. Patients with R-CPD underwent CBTI (treatment group) or deferred/declined treatment (control group). Outcomes included ability to belch, clinical symptoms, and quality of life measured using self-report questionnaires. Sixty-five subjects were included (52 treatment group, 7 controls, and 6 asymptomatic volunteers). All patients with R-CPD had inability to belch since childhood. During HRM with carbonated drink provocative testing, all R-CPD patients demonstrated characteristic esophageal pressurization patterns associated with failure of upper esophageal sphincter relaxation; these findings were never seen in asymptomatic volunteers. At 3 months, 92% patients who received CBTI were able to belch (compared with 0 controls; P < 0.001) and experienced improved clinical symptoms (global symptom score improved from 7.3 ± 1.7 to 1.8 ± 2.3, whereas in controls was static 7.5 ± 2.1 to 7.7 ± 1.8; P < 0.0001 for comparison). Quality of life significantly improved in the treatment group but not controls ( P = 0.0002). At 3 months, 43/51 (84%) of the treatment group reported being satisfied or very satisfied with therapeutic outcome. HRM with carbonated drink provocation demonstrates pathognomonic signs of R-CPD that were not seen in health. Flexible endoscopic CBTI is highly effective for symptomatic relief compared with no treatment.

Epithelioid Hemangioendothelioma of the Azygos Vein

Background. Epithelioid hemangioendothelioma (EHE) is a malignant vascular tumor of mesenchymal origin. In the mediastinum, EHE originates from the large venous vessels of the superior vena cava.The purpose of the study was to describe a rare clinical case of EHE of the unpaired vein and analyze literature data to improve diagnosis and treatment of this disease.Case presentation. We present a rare case of EHE of the unpaired vein in a 23-year-old male patient who admitted to the Herzen Moscow Oncology Research Institute with a posterior mediastinal tumor detected in August 2022. It was known from the medical history that the patient had undergone diagnostic right-sided thoracotomy and tumor biopsy at the place of residence. Morphologically, the tumor was an epithelioid hemangioendothelioma. The histological re-assessment of biopsy specimens at the Herzen Moscow Oncology Research Institute confrmed the diagnosis of EHE. Computed tomography of the chest organs revealed a mass in the posterior mediastinum (in the projection of the lumen of the unpaired vein), measuring 16×14×41 mm, with relatively clear even contours, close to the posterior wall of the trachea at the bifurcation level, the posterior wall of the right main bronchus, the left semicircle of the esophagus (without signs of invasion). Based on the data on the presence of a vascular tumor in the posterior mediastinum on the right, a multidisciplinary medical consilium recommended surgical treatment: right thoracotomy, removal of a posterior mediastinal tumor with resection of the azygos vein, marginal resection of the superior vena cava, and thrombectomy from its lumen. The duration of surgery was 180 minutes, blood loss was 200 ml. Morphological examination confrmed EHE of the unpaired vein. No complications were observed in the postoperative period. The patient was discharged from the hospital on the 8th day after surgery in a satisfactory condition.Conclusion. EHE of the unpaired vein is an extremely rare vascular tumor. The clinical feature of EHE of the unpaired vein is the absence of any pathognomonic signs, which complicates differential diagnosis of mediastinal tumors. Surgery is currently the optimal treatment approach.

Multidisciplinary perspectives in Demodex blepharitis: A new view of treatment from clinical, payer, and patient perspectives.

Demodex infestation is the cause of more than two-thirds of all cases of blepharitis in the United States. Although symptoms may include crustiness, redness, or itching of the eyelids, diagnosis can be accomplished through a simple examination of the eyelashes. The presence of a waste product of the Demodex mite, known as collarettes, on the base of the eyelashes is a pathognomonic sign of Demodex blepharitis. Demodex infestation that results in blepharitis may cause blockage and ultimately atrophy of the meibomian glands, worsening dry eye disease. Until recently, management of Demodex blepharitis has been limited by a lack of approved therapy options. Lotilaner ophthalmic solution 0.25%, the first approved therapy for treatment of Demodex blepharitis, has not only been shown to eradicate Demodex mites in one-half to two-thirds of patients following short-term treatment but also demonstrated continued benefits through 1 year of follow-up. In addition to managing Demodex blepharitis, treatment with lotilaner ophthalmic solution 0.25% may aid in the management of dry eye disease and other forms of ocular surface disease caused by complications of Demodex infestation. As a result, it is possible that successful management of Demodex blepharitis may reduce chronic use of health care resources dedicated to managing other chronic ocular conditions. As eye care professionals recognize Demodex infestation as a key mediator of ocular surface disease, increasing diagnostic awareness and addressing this underlying cause of Demodex blepharitis may reduce the need for specialist follow-up care, decrease the need for chronic therapy, and improve patient outcomes. Through routine screening for Demodex infestation and Demodex blepharitis, eye care professionals can now address an underlying factor in ocular surface disease to improve use of health care resources in the community.

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review.

Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus.

Clinical Utility of Radiographic Signs in Neuroradiology

Several characteristic radiographic signs associated with various diseases are useful in neuroradiological practice; however, their clinical usefulness varies widely. This article presents some common signs and the associated pathological features, particularly those observed on computed tomography and magnetic resonance imaging or pathognomonic signs that are useful for accurate diagnosis, even in patients with rare diseases.

Diagnosis on dilemma: Arteriovenous malformation with scar pregnancy with old retained product of conception

Cesarean scar pregnancy (CSP) is described as the placement of a gestational sac within the scar from a previous cesarean operation and is considered an ectopic pregnancy. Ectopic pregnancy situated in a cesarean section scar is a rare but potentially life-threatening event. Because of its rarity, there are no universal guidelines to manage this condition. CSP has no pathognomonic signs or symptoms and its presentation varies considerably. Here, we report a case of scar pregnancy containing an old retained product of conceptus.

One Year Follow-Up of a 4-Year-Old Caucasian Girl Diagnosed with Stage IV Grade C Localized Periodontitis.

Stage IV grade C localized periodontitis (pre-puberal localized aggressive periodontitis/LPP), an extremely rare form of periodontal disease, occurs in otherwise healthy individuals (no signs of dental plaque/calculus) due a hyper-aggressive auto-immune response to high periodontopathic bacteria levels. Methods: A 4-year-old Caucasian girl with unusually high mobility of the deciduous lower left canine and localized gingival inflammation was misrecognized by multiple clinicians (initially diagnosed with hypophosphatasia, genetic and metabolic disorders, all turning negative), over a period of 4-6 months, despite initial radiographs showing clear pathognomonic signs. The LPP diagnostic was made by the last clinician, but by then the tooth was lost. Similar inflammation signs appeared around the lower deciduous right canine. X-ray examination showed similar bone and periodontal loss as previously seen, while periodontopathic bacteria tested highly positive. The patient received both mechanical cleaning and ten days of systemic antibiotic treatment (Augmentin and Metronidazole). Results: Two months later, inflammation signs disappeared, with periodontal regeneration radiologically present, and only small periodontopathic bacteria precursor concentrations. Conclusions: Despite initial periodontal loss, an adequate treatment can keep under control an LPP disease. Moreover, bone and periodontal regeneration appears if periodontopathic bacteria scores are kept lower, showing the importance of fast adequate diagnostic and treatment.

Computed Tomography Finding of Crusty Thrombosed Arteries: An Appearance of Lower Extremity Vascular Pythiosis.

Vascular pythiosis is a dreadful vascular infection that presents as a chronic leg ulcer. To distinguish this infectious disease from atherosclerotic occlusion of the lower limb, we investigated the imaging appearance and presence of thick and irregular arterial wall enhancement, named crusty thrombosed arterial sign, on computed tomography images in cases with vascular pythiosis infection of lower extremities. In this study, 13 cases of vascular pythiosis of lower extremities with available images from 2016 to 2022 were reviewed and the presence of crusty thrombosed arterial signs, segments of vascular involvement, and radiological findings of hematologic disease, including hepatosplenomegaly and bone changes were recorded. Crusty arterial sign with long segmental arterial involvement was found in all cases. All cases had hepatomegaly and abnormal spleen, either splenomegaly or splenectomy, found in 12 cases (92.3%). Six cases (46.1%) had thalassemic bone changes. We proposed the pathognomonic radiologic sign of vascular pythiosis: the crusty thrombosed arterial sign, which manifested as diffusely thick and irregular arterial wall enhancement along long arterial thrombosis without skip lesions. Other associated findings included splenomegaly, splenectomy, and thalassemic bone changes. These radiologic findings facilitated the diagnosis of vascular pythiosis, particularly in cases of atypical presentation or unreliable clinical context.

Brain Magnetic Resonance Imaging in Wilson's Disease-Significance and Practical Aspects-A Narrative Review.

Wilson's disease (WD) is a genetic disorder of copper metabolism with pathological copper accumulation in many organs, resulting in clinical symptoms, mostly hepatic and neuropsychiatric. As copper accumulates in the brain during WD, and almost 50% of WD patients at diagnosis present with neurological symptoms, neuroimaging studies (especially brain magnetic resonance imaging (MRI)) are part of WD diagnosis. The classical sequences (T1, T2, and fluid-attenuated inversion recovery) were used to describe brain MRI; however, with the development of neuroradiology, several papers proposed the use of new MRI sequences and techniques like susceptibility-weighted images, T2*, diffusion MRI, tractography, volumetric assessment and post-processing brain MRI analysis of paramagnetic accumulation-quantitative susceptibility mapping. Based on these neuroradiological data in WD, currently, brain MRI semiquantitative scale and the pathognomonic neuroradiological brain MRI signs in WD were proposed. Further, the volumetric studies and brain iron accumulation MRI analysis suggested brain atrophy and iron accumulation as biomarkers of neurological WD disease severity. All these results highlight the significance of brain MRI examinations in WD. Due to the extreme progress of these studies, based on the available literature, the authors present the current state of knowledge about the significance, practical aspects, and future directions of brain MRI in WD.

Clinical and radiological variants of the nail–patella syndrome: Why is it important to make a correct diagnosis?

BACKGROUND: Nail–patella syndrome is an autosomal dominant disease caused by LMX1B mutations, characterized by a combination of dermatological and musculoskeletal abnormalities. The classic tetrad of the nail–patella syndrome includes hypoplasia of the nail plates, absence or hypoplasia of the patella, elbow joint contractures, often accompanied by posterior subluxation of the radial head, presence of “iliac horns” on radiographs of the pelvic bones, and renal changes. However, its diagnosis and treatment are not described in sufficient detail in domestic and foreign literature. AIM: This study aimed to analyze the variability of clinical and radiological manifestations in children with nail–patella syndrome. MATERIALS AND METHODS: Nine patients with nail–patella syndrome were examined and treated (aged 4 months to 14 years). All children presented to the H. Turner National Medical Research Center for Children’s Orthopedics and Trauma Surgery with a diagnosis of congenital multiple arthrogryposis. The examination results excluded this diagnosis. The diagnosis of nail–patella syndrome has been verified. RESULTS: Various variants of the nail–patella syndrome have been identified, with lesions to only the elbow joints (n = 3), damage to the upper and lower extremities (n = 5), and damage to only the lower extremities (n = 1). All patients had hypoplasia of fingernail plates. However, the pathognomonic sign – “iliac horns” on radiographs of the pelvic bones – was noted only in 33% of cases. Regarding functional disorders of the kidneys, proteinuria was observed in one patient, which appeared at the age of 15 years. In two cases, the parents suffered from this disease. A genetic examination was performed in three patients: a pathogenic variant in LMX1B was detected in a heterozygous state. All patients underwent conservative treatment for knee and elbow joint contractures and foot deformities. When casting, the presence of dislocation of the radial head or patella was considered. Surgical treatment was performed on five patients. The results of surgery on the lower extremities (knee contractures, foot deformities, and hip dislocation) were good in 87% of the cases. Recurrence of flexion contractures in the elbow joints was observed both after conservative and after surgical treatment in all cases; however, their severity varied. CONCLUSIONS: Clinical observations were considered to attract the attention of doctors of different specialties to a rare pathology. Moreover, a molecular genetic study is recommended for the timely diagnosis of the nail–patella syndrome, determining the treatment techniques and disease prognosis.

Fatal Fat Embolism Syndrome after Upper Limb Fracture: A Clinical Rarity

Fat embolism syndrome is a serious complication of long bone fractures; it is the consequence of the dissemination of fatty particles in the microcirculation. There is no pathognomonic clinical sign of this clinical entity. The positive diagnosis is based on Gurd's criteria. Management is essentially symptomatic. Severe forms can be fatal. We report an uncommon presentation of fat embolism syndrome after fracture of a long bone of the upper limb. The interest of the case is twofold: diagnostic and prognostic.

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.

H syndrome is a rare autosomal recessive genodermatosis that falls under the histiocytosis-lymphadenopathy plus syndrome. The term "H syndrome" includes manifestations such as hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally hyperglycemia. The syndrome is associated with mutations in the SLC29A3 gene, which encodes the human equilibrative transporter 3 present in endosomes, lysosomes, and mitochondria. The generalized and ubiquitous presence of affected lysosomes and mitochondria contributes to the systemic and phenotypically heterogeneous manifestations of the syndrome. H syndrome manifestations are cutaneous, systemic, and organ-specific. The pathognomonic signs are hypertrichosis and hyperpigmentation in the inner thighs and shins. However, not all patients present with these symptoms. H syndrome management involves a multidisciplinary approach to address specific symptoms and complications. The prognosis of H syndrome depends on several factors, including the extent and severity of clinical manifestations, the presence of complications, and timely diagnosis and management. Further studies are needed to explore the association between prognosis and the different mutations encountered in H syndrome.

The Pathognomonic ultrasonographic findings in fetus with COVID-19 infection

Aim: The main goal is to identify the pathognomonic sonographic signs for foetal SARS-CoV-2 infection and to determine whether or not transplacental SARS-CoV-2 transmission is possible. Patients and Methods: In total, 105 pregnant women with positive SARS-CoV-2 PCR swabs during the first trimester with mild or moderate infection without hospitalisation and/or oxygen support were included in this prospective comparative study, which was carried out at the ultrasound and foetal medicine unit of Ain Shams University Maternity Hospital from January 2021 to June 2023. The SARS-CoV-2 positive group was compared to the control group with inclusion and exclusion criteria. Results: In the COVID-19 group, pathognomonic ultrasonographic results were considerably more common. The COVID-19 group had a considerably higher frequency of placental calcifications and oligohydramnios. In the COVID-19 cohort, patients with positive pathognomonic ultrasonographic results had considerably higher BMIs. In the COVID-19 cohort, gestational age at infection, and BMI ≥30.0 kg/m2 were significant independent risk factors for the development of pathognomonic ultrasonographic abnormalities. Those in the control group who had positive pathognomonic ultrasonographic results were older and had higher rates of hypertension. Significant independent risk variables for the incidence of pathognomonic ultrasonographic findings in the control group included age ≥34.0 years and hypertension. Conclusion: There is no evidence of a teratogenic effect linked to maternal SARS-CoV-2 infection during the first few months of pregnancy. However, early pregnancy infection with COVID-19 is linked to pathognomonic ultrasonography findings of placental calcifications and oligohydramnios.

Sculptures with goiter in the Ossuccio Sacred Mount: when pathognomonic signs have a specific moral significance.

Sculptures with goiter in the Ossuccio Sacred Mount: when pathognomonic signs have a specific moral significance.

Uterine hydatidosis: casuistry is possible

Introduction. Hydatidosis is a severe parasitic disease caused by tapeworm Echinococcus granulosus widely spread in some endemic areas all over the world that primarily targets liver, lung, bones, muscles well as pelvis in casuistic cases. Due to the lack of pathognomonic signs as well as low prevalence rate of hydatid cysts in such anatomic sites, a differential diagnosis for relevant gynecological pathologies may be substantially complicated. Compared with common gynecological disease such as uterine fibroids, ovarian cyst and malignancies uterine hydatidosis may be identified only in 0.16 % cases.Aim: to present a clinical case of uterine hydatid cyst in order to optimize algorithms for differential diagnosis of primary pelvic echinococcosis and gynecological pathology, which is necessary for successfully conducted timely surgical treatment.Clinical case. In 2023, patient K. complained of dysuric phenomena and a feeling of heaviness in the pelvic area. Based on the anamnesis, clinical picture, laboratory and instrumental research methods, it was decided to perform surgical treatment. The patient underwent laparoscopic hysterectomy and removal of ¾ hydatid cyst. The obtained material was used for histological examination to verify the diagnosis.Results. Differential diagnosis of uterine echinococcosis is most often carried out with cystic or dysembryogenetic tumors, purulent or tuberculous abscesses, ovarian cysts, ovarian tumors, and uterine fibroids. Features of the MR picture, such as a thick compacted wall, the lack of internal septa, parietal and papillary outgrowths, as well as a solid component, allowed to suspect parasitic genesis of the neoplasm.Conclusion. While treating patients with cystic neoplasms of the pelvic area referred from endemic areas, echinococcosis should be included in the list of differential diagnostic searches.

Sleep and circadian rhythm dysfunctions in movement disorders beyond Parkinson's disease and atypical parkinsonisms.

This review aimed to comprehensively outline sleep and circadian rhythm abnormalities in hyperkinetic movement disorders beyond Parkinson's disease and atypical parkinsonisms, including tremor, dystonia, choreiform movements, tics, and ataxia disorders. Insomnia, poor sleep quality, and excessive daytime sleepiness (EDS) are commonly reported in essential tremor, Wilson's disease, tics or Tourette's syndrome, and spinocerebellar ataxia (SCA). REM sleep behavior disorder (RBD) have been observed in Wilson's disease and SCA. A combination of REM and non-REM parasomnias, along with nocturnal stridor with the initiation of sleep and re-entering after awakening, are characterized by undifferentiated Non-REM and poorly structured N2 in anti-IgLON5 disease. Restless legs syndrome (RLS) has been reported commonly in SCAs. Sleep-related dyskinesia has been reported in ADCY5-related disease and GNAO1-related movement disorder. Sleep problems can manifest as a result of movement disorders, either through direct motor disturbances or secondary nonmotor symptoms. Medication effects must be considered, as certain medications for movement disorders can exacerbate or alleviate sleep disturbances. Distinguishing sleep problems in some diseases might involve pathognomonic symptoms and signs, aiding in the diagnosis of movement disorders.