Atypical Course Research Articles

321 - Severe pernicious anemia presenting with an atypical clinical course concerning for underlyling hematologic malignancy—a case report

321 - Severe pernicious anemia presenting with an atypical clinical course concerning for underlyling hematologic malignancy—a case report

Клиническая картина вторичного периода сифилиса у ВИЧ-инфицированных больных

Predominantly sexually transmitted infections (STIs) continue to be of concern to physicians. Particularly interesting are cases of combined STIs. Patients infected with human immunodeficiency virus (HIV) and other diseases pose the most challenging diagnostic and treatment scenarios. Venereologists observe severe manifestations of chronic dermatoses in individuals with HIV infection, atypical courses of other infections, and lack of response to conventional treatment methods. This study focuses on monitoring HIV-infected patients with syphilis during their hospitalization in the venereology department of the V.G. Korolenko Clinic, a branch of the State Budgetary Healthcare Institution Moscow Research and Practical Center for Dermatovenerology and Cosmetology. The study presents a differential diagnosis of secondary syphilis manifestations in these patients and discusses the peculiarities of the disease course.

Secondary vasculitides

Vasculitides that occur in association with underlying primary diseases are called secondary vasculitides. In the diverse differential diagnostics of vasculitides, alarge variety of secondary vasculitides have to be considered. Secondary vasculitides cover the full spectrum of vasculitides, presenting in manifold clinical manifestations. This article provides an overview of systemic diseases and etiological factors, such as infections, drugs, and malignancies, which can be associated with vasculitides. The possible associations with infectious agents are too numerous to be comprehensively covered and are discussed in an exemplary fashion and with awestern European focus. Especially in atypical and refractory disease courses, asecondary vasculitis should be considered. In light of the diversity of differential diagnoses and the particular challenges posed by secondary vasculitides, interdisciplinary collaboration is the key for an accurate and early diagnosis as well as for successful treatment management. Treatment of the primary disease should always be prioritized and, if adrug-induced vasculitis is suspected, immediate cessation of the culprit drug is mandatory.

Factors of stroke misdiagnosis at the onset of myastenia gravis

BACKGROUND: Myasthenia gravis is a rare autoimmune disease,which is difficult to diagnose mainly in the initial stages, when there are single symptoms of the disease or an atypical course. Diagnostic errors are associated with the fact that myasthenia gravis and other diseases of the nervous system have similar symptoms. The most common misdiagnosis in the onset of myasthenia gravis is a stroke. However, the reasons for a false diagnosis remain unspecified and poorly understood.
 AIM: To determine the factors leading to misdiagnosis of a stroke in the onset of myasthenia gravis.
 MATERIALS AND METHODS: 133 patients diagnosed with myasthenia gravis were divided into two groups. Patients with misdiagnosed stroke at the onset of myasthenia gravis formed the first group, the rest of the patients – the second group. A comparative assessment was performed according to the age of myasthenia onset, the clinical variant of the onset, primary symptoms, the duration of diagnosis, and the severity of the disease at the time of the correct diagnosis, with the percentage of misdiagnosis calculation.
 RESULTS: Stroke as misdiagnosis was established more often than others (in 23% of all cases and in 44% of incorrect diagnoses). In the 1st group, complaints of dysarthria and dysphagia were significantly higher, myasthenia gravis began acutely more often, the age of myasthenia onset in patients of the 1st group was statistically higher than in the 2nd. There was no difference between the groups in terms of diagnosis duration, the disease severity, and the history of previous stroke.
 CONCLUSIONS: Factors leading to stroke misdiagnosis at the onset of myasthenia are advanced age and acute onset with bulbar disorders.

P-79 Graves’ Disease associated with alemtuzumab use for multiple sclerosis

Abstract Introduction Alemtuzumab was the first humanized monoclonal antibody to be created and is directed against CD52, a lymphocyte cell surface marker of unknown function. It has been used to treat leukemia and organ transplant rejection. More recently, alemtuzumab has been demonstrated to be highly effective in treating relapsing-remitting multiple sclerosis (MS) disease. Thyroid disease develops in approximately 20% of patients using alemtuzumab for MS, and Graves’ disease is the most common among them. Graves’ disease has not been reported in the use of alemtuzumab for reasons other than MS. Clinical Case A 28-year-old female patient with a 10 year history of MS had been treated with pulse corticosteroid, β-interferon and fingolimod. She received alemtuzumab in May 2019 due to increased relapse rates. After the first dose of alemtuzumab, she could not continue her treatment program due to the COVID-19 pandemic. Thyrotoxic thyroid functions (TSH: <0.015 uIU/mL, free T4: 24.79 pmol/L) were detected in the laboratory examination of the patient who was admitted to the endocrinology outpatient clinic with the complaint of palpitation in April 2021. The review of the patient's past laboratory test results determined she was euthyroid before alemtuzumab treatment. She had no personal or family history of thyroid disease. She had no signs and symptoms of thyroid ophthalmopathy. Ultrasonographic examination of her thyroid gland revealed normal size gland and pseudonodular appearance in the parenchyma. Subsequent thyroid scintigraphy showed diffuse uptake of the radioisotope and reduced counting time of the examination. These results were consistent with Graves’ disease. The patient was started on 5 mg methimazole twice a day. Since the etiology of Graves’ disease was thought to be primarily related to alemtuzumab, the patient's MS treatment was continued with ocrelizumab. She stopped the methimazole treatment within 3 months and did not regularly show up to her follow-up visit. In November 2022, she was admitted to the outpatient department with palpitation, sweating, and irritability symptoms. Thyrotoxic thyroid functions were detected again (TSH:<0,015 uIU/mL, free T4: 26,82 pmol/L). She was restarted on 5 mg methimazole treatment twice a day. In June 2023, she was euthyroid (TSH: 0,496 uIU/mL, free T4: 5,42 pmol/L, free T4: 10,45 pmol/L) and her TSI level was undetectable. The methimazole was reduced to 5 mg once a day. She continues to her treatment and follow-up in our center. Conclusion Graves’ disease is a common complication of alemtuzumab use in MS. Alemtuzumab-associated Graves’ disease follows an atypical course compared to the classical form of the disease. The spontaneous remission rate is less than in the classical form of the disease, and medical treatment is often required. Thyroidectomy may be necessary in cases that do not respond to antithyroid agents. Close monitoring of thyroid function tests is essential in alemtuzumab-associated Graves’ disease.

A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report

BackgroundSTING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflammation and various degrees of immunodeficiency and autoimmunity.Case presentationWe report the case of a 5 year old child and his mother, both of whom presented with systemic inflammatory symptoms yet widely varying organ involvement, disease course and therapeutic response. Genetic testing revealed a heterozygous STING variant, R281Q, in the child and his mother that had previously been associated with SAVI. However, in contrast to previously reported SAVI cases due to the R281Q variant, our patients showed an atypical course of disease with alopecia totalis in the child and a complete lack of lung involvement in the mother.ConclusionsOur findings demonstrate the phenotypic breadth of clinical SAVI manifestations. Given the therapeutic benefit of treatment with JAK inhibitors, early genetic testing for SAVI should be considered in patients with unclear systemic inflammation involving cutaneous, pulmonary, or musculoskeletal symptoms, and signs of immunodeficiency and autoimmunity.

Necrotizing Fasciitis Due to Group A Streptococcus: A Case of a Deteriorating Biphasic-like Clinical Course Over Five Days with a Devastating Outcome.

Necrotizing fasciitis (NF) is a life-threatening disease with high mortality and rapidly progressive clinical manifestations1. Early detection and surgical management coupled with antibiotic treatment are crucial for the survival, and the patient survival is heavily dependent on clinical decisions2,3. However, it is not widely known that NF does not always follow a typical clinical course, and there have been no case reports of NF following an atypical clinical course. Although the course of the disease depends on the individual patient, it remains a challenge for physicians to determine the precise timing when patients are most likely to survive multiple surgical interventions. We encountered a challenging case presenting with an atypical clinical course. We herein report a 31-year-old man who followed a deteriorating biphasic-like clinical course and presented with extensive NF and streptococcal toxic shock syndrome due to Group A Streptococcus. This case serves to inform physicians of the existence of NF with an atypical and deteriorating biphasic-like clinical course, emphasizing the need for a careful evaluation of the patient condition.

Requirement of Repeated Serum VEGF Measurements in POEMS Syndrome.

POEMS syndrome is often associated with a poor prognosis. Elevated serum vascular endothelial growth factor (sVEGF) is a useful diagnostic marker with high sensitivity and specificity. However, the relationship between sVEGF elevation and polyneuropathy in POEMS syndrome remains controversial. We herein report a case of polyneuropathy without sVEGF elevation at the first admission. However, at 21 months after the onset, the patient tested positive for sVEGF and was diagnosed with POEMS syndrome. Therefore, it is important to repeatedly measure sVEGF levels in patients with polyneuropathy with an atypical course when POEMS syndrome is suspected, even if the initial sVEGF level is normal.

Atypical course of incarcerated post-traumatic diaphragmatic hernia

The article focuses on the instrumental imaging methods which greatly enhance the possibilities when arriving at correct and quick diagnosis of acute surgical pathology. Analysis of clinical and anamnestic data of the disease course and the results of instrumental research methods made it possible to arrive at clear clinical diagnosis, determine the indications for surgical treatment in this specific clinical case. The use of modern visualization methods while examining the patients prevents errors in diagnosis and helps to determine the optimal treatment tactics.

Рожистое воспаление у детей в практике педиатра

Aim. To present a clinical case of atypical erysipelas, complicated by an allergic reaction, in a 10-year-old child. Key points. Erysipelas is an urgent medical and social problem, and, despite the success of antibacterial therapy, its frequency does not tend to decrease. Erysipelas belongs to the group of pyoderma and occupies a leading place in the structure of purulent-septic diseases. The main etiological factor of erysipelas is considered to be group A Streptococcus. However, the ineffectiveness of traditional antibacterial therapy regimens speaks in favor of the polyetiological nature of this disease and requires great attention in choosing the starting drug. In children, the erythematous-bullous form is more common, which may require differential diagnosis not only with infectious diseases, but also with a number of allergic diseases with the prescription of desensitizing therapy. The article examines a clinical case of an atypical course of erysipelas in the area of the right half of the face, complicated by an allergic reaction in a 10-year-old girl. The ineffectiveness of initial antibacterial therapy and its correction based on the clinical picture, taking into account the negative results of laboratory tests, have been demonstrated. Conclusion. Erysipelas in children with a burdened premorbid background, especially with atypical forms, requires great attention from doctors, since in these cases, if therapy is ineffective, the risk of complications may be increased. Keywords: erysipelas, children, pediatric maxillofacial surgery, Streptococcus pyogenes, Staphylococcus aureus.

Інфекційна еритема та феномен Рейно в дитини після перенесеної коронавірусної хвороби: опис клінічного випадку

Purpose - to analyze practice cases with an atypical course associated with comorbid pathology; to acquaint pediatricians and family physicians with the diagnostic search algorithm. The article summarizes literature data, and describes a clinical case of erythema infectiousum in combination with Raynaud's phenomenon, which occurred in a 9-year-old child І. with coronavirus disease in anamnesis. It was established that the nature of the pathological changes: periodic hyperemia of the cheeks and auricles, “slapped cheeks”, and, at the same time, palleness of the nasolabial triangle, a pronounced change in color, marbling of the skin on the limbs and on the buttocks, with a lacy pattern of vessels, which are provoked by exposure to cold air or psycho-emotional excitement, clearly indicate both the manifestations of parvovirus infection, and the Raynaud's phenomenon mentioned above. On the other hand, post-covid syndrome is also often accompanied by non-specific changes in the skin and its derivatives (up to 20.4% of cases) in the form of urticaria, erythema, and frostbite. In the same group of patients, there are maculopapular rashes and livedo reticularis, those could be Conclusions. During the pandemic of coronavirus infection, the issues of comorbid pathological conditions in pediatrics, which have a blurred clinical picture, an atypical course, common links of pathogenesis, in particular microcirculation disorders, and require an interdisciplinary approach to the management of these diseases, rehabilitation measures, are becoming more and more relevant. interpreted both as a manifestation of systemic vasculitis, and as independent disease. Thus, the patient was diagnosed with infectious erythema caused by parvovirus B19 in combination with Raynaud's phenomenon, probably caused by a history of coronavirus disease. The multicomponent nature of the patient's symptoms is highlighted, and the diagnostic search algorithm is shown. The study was conducted in accordance with the principles of the Declaration of Helsinki. An informed parental consent was obtained for the study in children. No conflict of interests was declared by the authors.

CURRENT COURSE OF CHICKENPOX (CASE REPORT)

The urgency of the problem associated with chickenpox lies in its widespread prevalence, high rates of morbidity and the risk of developing severe forms and complications leading to fatal outcomes. This disease is considered to be pediatric, but adults can also get infected with this infection, and the disease in adults has a more severe form. Many diseases change their course a little over time. The purpose is to present a case report describing an atypical course of chickenpox. Materials and methods. A retrospective analysis of 23 case histories of patients diagnosed with chickenpox (typical course, mild and moderate severity) was carried out on the basis of LLC ""Doctor with You" Medical Center" of the Chuvash Republic of Cheboksary. One clinical case of an atypical course of the disease is described. Study results. During a retrospective analysis of 23 case histories of patients diagnosed with chickenpox, it was noted that 9 patients with uncomplicated form of the disease had a rash not only on the body, the scalp, but on their palms and feet as well. The above clinical case describes the onset of rash on the 2nd day of the disease in a girl aged 9 years. On the 3rd day of the disease, rash appeared on the palms and feet. The child was examined by a pediatrician on the 7th day of the disease at home. To confirm the diagnosis, in addition to general clinical tests, an enzyme immunoassay was administered to determine antibodies to varicella-zoster virus IgM and IgG. On the basis of complaints, epidemiological history, objective and laboratory data, the diagnosis was made: chickenpox, typical course, mild form. Symptomatic treatment was administered for the patient. Conclusions. According to the Clinical recommendations (treatment protocol) for providing medical care to children with chickenpox, rash on the palms and feet in chickenpox refers to a severe form of the disease, but currently such rash can be found in patients suffering from the mild form of the disease. The atypical nature of the rash is possible to be due to variability of the virus, which requires further study. Due to the fact that the disease remains one of the most widespread, it is necessary to consider the issue of including vaccination against chickenpox in the calendar of preventive vaccinations in the Russian Federation.

Peitz–Jaegers syndrome as a cause of intussusception in children

BACKGROUND: Intestinal intussusception is a common cause of acute intestinal pathology in children. Peitz–Jaegers syndrome is a rare disease with an autosomal dominant type of inheritance characterized by the development of hamartomic polyps in the gastrointestinal tract and pigmented spots on the skin and mucous membranes. It is a “precancerous” state which increases the risk of oncologic formations in the gastrointestinal tract and in genital glands. Peitz–Jaegers syndrome is associated with mutations in STK11 or LKB1 genes.
 CLINICAL CASE DESCRIPTION: The article describes the authors’ experience in surgical resolution of the intestinal intussusception with atypical course in a 6-year-old child. Diagnostic laparoscopy detected intussusceptions in the small intestine, one of which was immediately desinvaginated with instruments and the other one required conversion. During the surgery, dense tumor-like formations were identified; therefore, jejunum loop with revealed formations was resected. Further histological and other testings showed that these formations were hamartomic polyps. The patient had been preliminary diagnosed with Peitz–Jaegers syndrome which further was confirmed by genetic and histological analyses and gastroscopic examination. The postoperative period was uneventful; the child was discharged in the satisfactory condition on day 7 after the surgery.
 CONCLUSION: Consultations with a pediatric surgeon and gastroenterologist, examination of the upper and lower gastrointestinal tract, monitoring polyps’ onset or growth are stages of key importance in children with Peitz–Jaegers syndrome. Such an approach promotes minimization of risks associated with the course of this disease. To prevent emergency surgical situations, it is important to make genetic analyses for children with the family history of polypous syndrome in the gastrointestinal tract.

Late manifestation of autoimmune polyglandular syndrome type 1 with hypoparathyroidism and autoimmune thyroiditis

Autoimmune polyglandular syndrome type 1 (APS 1) is a rare genetic disorder caused by a mutation in the autoimmune regulator AIRE gene. The diagnosis is usually based on the combination of at least two components of the classic triad: mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Other autoimmune disorders, including thyroid diseases, also occur and may manifest before the primary components. The disease is more likely to manifest during infancy, but some components may develop in adult patients. As the components of the syndrome do not occur simultaneously, verification of the diagnosis is often delayed. A significant challenge in the management of patients with APS 1 is the selection of optimal drug doses due to polypragmasy and the frequent presence of autoimmune disorders and/or candidiasis of the gastrointestinal tract. We present a clinical case of a patient with an atypical course of APS 1, in whom the first endocrine components (hypoparathyroidism and hypothyroidism) were diagnosed in adulthood. This case highlights the phenotypic diversity of APS 1, and the difficulties in selecting therapy when several autoimmune endocrine diseases are combined.

An Atypical Course of Cardiomyopathy Syndrome (CMS) in Farmed Atlantic Salmon (Salmo salar) Fed a Clinical Nutrition Diet.

Cardiomyopathy syndrome (CMS) poses a significant threat to farmed Atlantic salmon (Salmo salar), leading to high mortality rates during the seawater phase. Given that controlled experimental challenge trials with PMCV do not reproduce the mortality observed in severe field outbreaks of CMS, field trials on natural CMS outbreaks are warranted. This field study explored the impact of a clinical nutrition intervention, specifically a diet enriched with eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), on a severe CMS outbreak in a commercial sea farm. CMS was diagnosed in a single sea cage with high mortality rates. Histopathological analysis, RT-qPCR in situ hybridization for virus detection, and fatty acid composition analysis were used to monitor the impact of disease and the inclusion of EPA and DHA in heart tissue. Following the implementation of clinical nutrition, a decline in mortality rates, regression of CMS-associated changes, and a significant reduction in piscine myocarditis virus (PMCV) RNA load were observed within the salmon population. Fatty acid composition analysis of heart samples demonstrated increased levels of EPA and DHA, reinforcing the association between dietary factors, viral load dynamics, and overall fish health. Although further validation is needed in future studies, as field trials may not be sufficient to establish causation, our results indicate that optimizing the EPA + DHA levels may prove beneficial in severe CMS outbreaks.

Clinical case of bilateral rapidly progressive osteoma of the choroid

Choroidal osteoma is a benign neoplasm characterized by the appearance of mature bone tissues at the level of the choroid and unilateral development. This study highlights a clinical case of bilateral rapidly progressing osteoma of the choroid in a child, which was complicated by tumor decalcification and choroidal neovascularization. A 14-year-old male teen has been under observation in the S. Fyodorov Eye Microsurgery Federal State Institution, Saint-Petersburg branch since 2019, for bilateral choroidal osteoma. At the initial visit, a yellow-orange lesion with clear boundaries was noted in the left eye, localized at the level of the choroid and parapapillary, and had a trabecular bone structure. Based on the clinical picture and data from instrumental studies (ultrasound and optical coherence tomography), he was diagnosed with choroidal osteoma. During observation, a similar lesion appeared in the right eye, and its relatively rapid growth was observed in both eyes. Owing to the absence of zones of decalcification and neovascularization, further follow-up was initiated. However, in the presence of zones of decalcification of the bone tissue and newly formed vessels of the choroid, a threefold intravitreal injection of an angiogenesis inhibitor was performed. Consequently, regression of choroidal neovascularization was observed. Speculatively, the main reason for the atypical disease course in this teenager is the specificity of bone tissue development in childhood and adolescence.

Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families

Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families

Experience in a primary care inpatient hospital (Comárcal) with the use of CSF results for the diferential diagnosis of Alzheimer’s disease

AbstractBackgroundTo analyze the usefulness of the use of Alzheimer’s disease (AD) biomarkers in cerebrospinal fluid (CSF) since its incorporation into clinical practice, in a first‐line care hospital setting.MethodWe review clinical history, neuroimaging and neuropsychology, and results of B‐amyloid 42, B‐amyloid 42/40 ratio, total tau and p‐tau in CSF in patients who consulted for cognitive impairment. Prior to biomarker determination, they were assigned a degree of suspicion based on history, neuroimaging and neuropsychology. Afterwards, they were reclassified into probable AD/ dementia not AD/no evidence of AD or neurodegeneration according to the ATN system. Finally, the usefulness was assessed according to whether a high degree of diagnostic certainty was achieved in each case.Result39 patients gave ICF and were analyzed; mean age 69.5 years; cases with typical and atypical clinical course. After determination of biomarkers, they were classified according to whether they presented A+/A‐, T+/T‐ and N+/N‐; findings were correlated with previous clinical and paraclinical data and compared with them, and stratified according to the degree of diagnostic certainty provided. A high degree of diagnostic certainty was achieved in 34/39 patients.Conclusiondetermination of CSF biomarkers is a useful, affordable and decisive tool in the differential diagnosis of patients with Alzheimer’s disease, which makes it a diagnostic resource to be used preferably even in primary health care hospitals.

Interferon system in typical chronic and atypically occurring chronic active herpes virus infections

Objective: to study the characteristics of the functioning of the IFN system, the presence of autoantibodies to INFα in patients suffering from atypical chronic active herpesvirus infections (ACA-HVI) in comparison with patients with a typical course of chronic herpesvirus infections (CHVI).Materials and methods: under our supervision were 485 patients of both sexes aged 23 to 70 years, suffering from chronic herpes virus infections, of which 335 patients suffered from AHA-HVI and 150 people suffered from CHVI. The comparison group was 250 conditionally healthy individuals (CG). The complex of the study included methods for detecting herpesviruses: serodiagnostics, PCR-RT. The IFN system (spontaneous and induced production, serum concentration) was tested by ELISA. The study was approved by the ethics board and informed consent was obtained from all patients.Results: the incidence of various mono-mixed herpesvirus infections in patients with ACA-HVI (mono – 26,6% and mixed – 73.4%) and CHVI (mono – 23.1% and mixed – 76.9%) was determined, with EBV dominance in patients of both groups. Serum IFNα deficiency was detected in 100% of cases in both groups, and IFNα in 67% in ACA-HVI and 57% in CHVI. At the same time, significant differences were found between the ACA-HVI and HGVI groups in the level of IFNα reduction: 10 and 5 times, respectively, and for IFNγ – 2.0 and 2.6 times, respectively. The induced IFNα production decreased by 89.1% in ACA-HVI and 47.2% in CHVI. A decrease in induced IFNγ production is characteristic of 50% of patients in both groups. At the same time, the level of induced production of IFN α in patients with ACA-HVI was 9 times lower than in the control group and 4.75 times lower than in the group of patients with CHVI. And the level of induced IFNγ production was 2 times lower compared to CHVI and the control group.Conclusions: when assessing the state of the IFN system in patients with various chronic herpes virus infections, significant differences were revealed. Thus, the most pronounced manifestations of interferonopathy, consisting in a significant decrease in serum IFNα and IFNγ and defects in induced IFN production of both types, are observed statistically significantly more often in the group of patients with an atypical course of the disease than in the group of patients with a typical course of CHVI. The most pronounced disorders in the IFN system and the lack of recovery of IFNα and IFNγ levels in the interrelational period cause atypicity of the course and active viral replication in patients with ACA-HVI.

Relapsing polychondritis

Relapsing polychondritis (RP) is a rare multisystemic disease predominantly involving the extracellular matrix. Typical manifestations are chondritis of the ears, nose and trachea as well as an asymmetrical oligoarthritis or polyarthritis of small and also larger joints. Various other involvements have also been described. The treatment of RP is individually dependent on a variety of factors, e.g., organ manifestations. Glucocorticoids, immunosuppressants and targeted treatment are implemented. In the case of seronegative rheumatoid arthritis or vasculitis with an atypical course the symptoms of RP should be taken into consideration.