Misdiagnosis of eosinophilic cystitis: A case report and literature review.

RATIONALE: Eosinophilic cystitis (EC) is a rare and specific transmural inflammatory disease in clinic. At present, its etiology is unknown, its clinical manifestations are diverse, and its auxiliary examination lacks specificity, so it is easy to be missed or misdiagnosed in clinical practice. PATIENT CONCERNS: A 72-year-old male patient with symptoms of lower urinary tract obstruction accompanied by hematuria was diagnosed with benign prostatic hyperplasia with bleeding by B-ultrasound and urinary CT examination. After being treated with catheterization, anti-infection and hemostasis, he was selectively treated with transurethral resection of prostate, but he saw a pattern mass on the right back wall of the bladder during the operation. Considering bladder tumor, he removed the lesion and gave pirarubicin for bladder perfusion. However, the postoperative pathological result was EC. DIAGNOSIS: The diagnosis of EC can only rely on pathological examination, and the accurate and positive rate of biopsy can be improved by obtaining muscle tissue as much as possible at the same time of multi-point biopsy. INTERVENTION: Prednisone and cetirizine were given orally after transurethral resection of lesions, and tamsulosin and finasteride were given regularly to treat benign prostatic hyperplasia. OUTCOMES: No recurrence and abnormal urination were found during the follow-up for half a year, and the upper urinary tract function was normal. LESSONS: The clinical manifestations of EC are atypical, the laboratory examination and imaging examination are not specific, and it is difficult to make a definite diagnosis before operation. The diagnosis depends on pathological examination. Transurethral resection of the lesion can obviously improve the positive rate of biopsy while completely removing the lesion, and the combined drug treatment can achieve satisfactory results in a short period of time. Active follow-up after operation is very important to identify the recurrence of the disease and prevent the upper urinary tract function from being damaged.

Painless Orbital Bone Infarction in a Child with Sickle Cell Anemia: A Case of Misdiagnosed Periorbital Cellulitis.

BACKGROUND Sickle cell orbitopathy is a rare complication of sickle cell disease that closely mimics other conditions, such as orbital cellulitis and osteomyelitis. We report a case of painless orbital bone infarction masquerading as periorbital cellulitis in a child with sickle cell anemia. CASE REPORT A 4-year-old Saudi girl with sickle cell disease presented to our hospital with vaso-occlusive crisis characterized by bilateral lower limb pain and painless left orbital swelling. On examination, she had swelling of the left upper eyelid with redness and mild ptosis (margin reflex distance 1 was 2 mm) without proptosis. Magnetic resonance imaging with contrast showed bilateral sub-periosteal heterogeneous collections (2×0.8×2.1 cm in the superolateral wall of the left orbit and 1×0.6 cm in the inferolateral wall of the right orbit), with intermediate-to-high T1 signal intensity and high T2 signal, causing a mass effect on the adjacent superior and lateral rectus muscles. The patient was treated with systemic antibiotics and supportive treatment for vaso-occlusive crisis under the care of the pediatric team and was discharged without complications. CONCLUSIONS The diagnosis of sickle cell orbitopathy can be challenging, and an accurate diagnosis is essential to ensure appropriate management. Thus, we report the case of a 4-year-old child with painless sickle cell orbitopathy masquerading as pre-septal cellulitis.

Paraneoplastic pemphigus misdiagnosed as juvenile dermatomyositis: A case report.

Paraneoplastic pemphigus (PNP) is a rare autoimmune skin disease closely related to tumors, characterized by a maculopapular rash with mucosal pain, bronchiole occlusion, and respiratory failure may occur over time, even resulting in death. We report a rare case of a child with autoimmune PNP misdiagnosed as juvenile dermatomyositis (JDM), and summarize the key points of differentiation of clinical manifestations and auxiliary examinations of PNP and JDM. When the diagnosis is not clear because the patient has features not typical of JDM, then skin biopsy and other diagnostic studies should be considered prior to any immunosuppressive therapy, as this could potentially obscure and delay the diagnosis of malignancy.

Duplicated adrenal veins in primary aldosteronism misdiagnosed with ectopic aldosteronoma due to apparent bilateral aldosterone suppression.

BACKGROUND: Primary aldosteronism (PA) is considered the number one aetiology for secondary hypertension. Apart from confirmatory tests and localisation of PA determined by computed tomography (CT), adrenal venous sampling (AVS) is used to define whether aldosterone hypersecretion occurs inside one or both adrenal glands. However, even correctly-performed AVS may lead to undiagnostic results such as apparent bilateral adrenal suppression (apparent bilateral aldosterone suppression), in which the adrenal aldosterone-to-cortisol ratios (AC ratios) are decreased bilaterally compared to the peripheral blood sample, with several causes contributing to it. CASE DESCRIPTION: Here, we describe the case of a 48-year-old man who was referred to our department for further investigation with a history of refractory hypertension, hypokalaemia, and aortic dissection. His hypertension and hypokalaemia were initially attributed to ectopic aldosteronoma due to his adrenal CT scan and AVS results. However, the correct diagnosis of an adenoma with duplicated right adrenal veins (duplicated adrenal veins) due to apparent bilateral aldosterone suppression was confirmed during surgery. CONCLUSION: AVS is the gold standard accepted for PA subtyping, but sometimes when apparent bilateral aldosterone suppression is present, it can give ambiguous results. Duplicated right adrenal veins, may impact results, thus, AVS may not accurately provide evidence of unilateral hypersecretion for all PA patients. Repeat AVS or adrenal surgery can provide worthwhile diagnostic conclusions.

The recognition and diagnosis of primary aldosteronism (PA) have increased in recent years and clinicians usually require adrenal venous sampling (AVS) to identify the affected side, and it's crucial for further treatments of PA patients (surgery or medicine).We presented an example of unilateral aldosteronoma with duplicated adrenal veins whose AVS results suggested apparent bilateral aldosterone suppression (the adrenal venous aldosterone/cortisol ratios are bilaterally lower than the peripheral ratios). He was misdiagnosed with ectopic aldosteronoma due to computed tomography (CT) features, but surgery findings revealed duplicated adrenal veins.Unclear AVS results such as apparent bilateral aldosterone suppression can lead to a missed diagnosis of unilateral PA, preventing patients from receiving potentially curative adrenal resection.Our case can serve as an example for clinicians that encounter the same condition to provide further investigational clues to ensure the correct aetiological diagnosis for patients with PA.

Pseudo-pseudo Meigs syndrome in systemic lupus erythematosus misdiagnosed as pseudo-Meigs' syndrome: A case report.

Symptoms of pelvic masses, elevated serum CA125 levels, massive ascites, and pleural effusion in female patients are usually associated with malignancy. Some benign ovarian tumors or other nonmalignant tumors may also produce similar symptoms, called Meigs syndrome or pseudo-Meigs' syndrome, which should be one of the differential diagnoses. However, there is an extremely rare form of SLE called pseudo-pseudo Meigs syndrome (PPMS), which may also present with the above symptoms, but is not associated with any of the tumors. In this paper, we report a case of a 47-year-old woman who presented with abdominal distention. The patient was found to have elevated serum CA125 levels to 182.9 U/mL before the operation. Her PET-CT suggested a large heterogeneous mass in the pelvis measuring 8.2 × 5.8 cm with a large amount of ascites. She was initially diagnosed with ovarian cancer and underwent exploratory laparotomy. Pathology of the surgical specimen revealed a uterine leiomyoma. Two months after discharge, the patient's ascites reappeared along with recurrent intestinal obstruction. After ascites and serological tests, she was eventually diagnosed with systemic lupus erythematosus and received systemic hormonal therapy.

Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism.

AIM: Lack of CYP17A1 prevents sex steroid biosynthesis, yielding a female phenotype in 46, XY males and sexual infantilism in both sexes; overproduction of 11-deoxycorticosterone (DOC) in the zona fasciculata typically causes mineralocorticoid hypertension. In this study, we report two cases of severe hypokalemia, hyperaldosteronism, and sexual infantilism. CASE PRESENTATION: Case 1 admitted severe hypertension and hypokalemia with female external genitalia with 46, XY. The patient also had right adrenal masses of 35*30 mm diameters. Case 2 was presented with delayed pubertal development with 46, XX genotype. In addition, she had severe hypertension and hypokalemia with nodular surrenal hyperplasia in her abdomen imaging. METHODS: Further hormonal and biochemical results were followed as elevated adrenocorticotropic hormone (ACTH) levels, low serum cortisol, 17 hydroxy progesterone (17 OHP) and dehydroepiandrosterone sulphate (DHESO4) and estradiol (E2) levels in both cases. RESULTS: Genetical analyses confirmed 17 OHP deficiency in both cases. CONCLUSION: The condition of patients with 17 alpha-hydroxylase deficiency may substantially resemble primary hyperaldosteronism and must be considered in patients as primary hypogonadism (and) associated with mineralocorticoid hypertension.

Patent foramen ovale-associated stroke repeatedly misdiagnosed as cerebral small vessel disease: A case report.

BACKGROUND: Transthoracic echocardiography (TTE) is the most commonly used screening method for cardiac structural abnormalities. However, it may lead to a missed diagnosis of partial patent foramen ovale (PFO)-associated stroke. CASE PRESENTATION: A 60-year-old male was admitted to the hospital for recurrent left limb weakness with or without slurred speech for 14 months. No stroke-related cardiac structural abnormality was detected during repeated TTE, and the patient was diagnosed with cerebral small vessel disease. Finally, right-to-left shunt was detected by contrast-enhanced transcranial Doppler. Subsequently, the patient was diagnosed with PFO-associated stroke by transesophageal echocardiography and contrast transesophageal echocardiography. CONCLUSIONS: TTE has a low detection rate of PFO, such that it is easily missed. Contrast-enhanced transcranial Doppler is easy to operate and should be promoted as a supplementary measure to stroke etiological investigation and primary PFO screening.

[Giant Bullae Misdiagnosed as Pneumothorax:Report of a Case].

A 46-year-old man was taken to a hospital by ambulance because of sudden onset of dyspnea, and was inserted chest drainage tube with a diagnosis of right-sided tension pneumothorax on chest X-ray. Since the chest drainage was not effective, he was transferred to our institute. Based on chest computed tomography (CT) findings, a diagnosis of giant bullae of the right lung was made, and surgical treatment was performed. Postoperatively, the improvement of respiratory function was confirmed.

Implementation of a Structured Process for Clinically Indicated Testing for Clostridioides difficile Infections in Pediatric Oncology and Stem Cell Transplant.

Background: Clostridioides difficile (C. difficile) is the primary cause of healthcare-associated infectious diarrhea. Pediatric patients with oncology and stem cell transplant (SCT) diagnoses are at greater risk of C. difficile infections (CDI) and C. difficile colonization than those without. Misdiagnosis of C. difficile colonization as infection and subsequent unnecessary treatment can lead to antibiotic resistance, increased healthcare costs, and an overestimation of CDI rates. Methods: A best practice advisory (BPA) was built into the electronic medical record to guide decision making regarding clinically indicated C. difficile testing. Tests for CDI were to be sent only if the patient met all the predefined clinical criteria for testing. The number of CDI tests ordered per 1,000 patient days, the number of tests positive per 1,000 patient days, and the proportion of positive tests were compared before and after implementation. Results: The number of tests ordered per 1,000 patient days declined from 8.2 to 5.7 after the intervention. Positive tests per 1,000 patient days increased from 2.2 to 3.5 after the intervention. This demonstrates an increase in the proportion of positive tests from 27% to 61%. Discussion: This intervention led to fewer CDI tests ordered, but CDI incidence and test positivity proportion increased. This is likely reflective of better-targeted testing for CDI and the identification of true-positive cases of infection, but we cannot rule out a coincident increase in CDI activity during the study period. Through education and electronic reminders of the clinical indicators for testing for CDI, the frequency of testing for C. difficile was reduced.

Misdiagnosis of Pyoderma Gangrenosum Increases Medical Costs and Prolongs Hospital Stay: A Case Report.

Pyoderma gangrenosum (PG) is a rare, immunological ulcerative, and necrotic inflammatory skin disease that can be easily misdiagnosed as cellulitis, abscess, diabetic foot ulcer, and other infectious diseases. Misdiagnosing PG leads to unnecessary surgical incision and debridement, which further exacerbates the lesion, ultimately leading to longer treatment periods and higher medical costs. Therefore, early and accurate diagnosis of PG is extremely important for its treatment. In particular, PG should be suspected in patients with inflammatory bowel disease.

About uterine enhanced myometrial vascularity: Doppler ultrasound could reduce misdiagnosed life-threatening vaginal bleeding after pregnancy and guide the management.

Enhanced myometrial vascularity is a rare entity in which an abnormal communication between vessels of the myometrial wall, potentially derived from all pregnancies, increases bleeding risk. Spontaneous regression is possible, but often, it is not foreseeable in which cases it's better to adopt a waiting behaviour and in which others a treatment is required. We reported three cases of enhanced myometrial vascularity: two occurring after vaginal delivery, and the third one after a scar pregnancy. The first case was successfully treated by embolization, the second one was subjected to curettage complicated by uterine perforation; the third one underwent embolization as well, but subsequently required hysterctomy for persistent methrorragia. As we treated these similar cases in three different ways, we decided to perform a mini review of the literature in the aftermath. Considering literature data, we strongly believe that the detection of peak systolic speed by colour-Doppler ultrasound together with a careful evaluation of clinical symptoms, could be a good guide to the best treatment of each patient.

Misdiagnosis and Mistreatment of a Rare Case of Intracranial Oncogenic Osteomalacia with an Altered Amino Acid Profile.

Background. Oncogenic osteomalacia (OO), also known as tumor-induced osteomalacia (TIO), is a rare paraneoplastic syndrome caused by mesechymal tumors secreting fibroblast growth factor 23 (FGF23). Common in middle age, these tumors are often disclosed by progressive generalized bone pain and muscle weakness, along with an altered biochemical profile. Despite its characteristic presentation, the disease is often underrecognized with delayed onset of surgical or pharmacological intervention that can have serious repercussions on the patients' health and quality of life. Case presentation. We describe the case of a 65-year-old Caucasian man presenting TIO with intracranial and spinal localizations and Fanconi-like aminoaciduria. The condition was misdiagnosed and mistreated for three years, leading to loss of self-sufficiency and depression. Following proper identification, the spinal mass was excised with complete remission of the functional symptoms. As it was not possible to remove the intracranial lesion, the patient was treated conservatively with calcitriol and phosphorous supplements that granted good metabolic control up to the time of a recent follow-up visit (at 5 years). Conclusions. The finding of an altered amino acid profile, not usually reported in these cases, should prompt clinicians to a wider usage of these molecules as suitable candidates for metabolic diseases. In addition to providing central information, they are easy to obtain and inexpensive to analyze. Such determination could help to speed up the diagnostic process, as a long-lasting history of misdiagnosis and mistreatments can lead primarily to clinical worsening, but also to the use of expensive, useless medications with side effects that contribute to poor patient health.

A rare case of mediastinal mass with massive pleural effusion misdiagnosed as neurogenic tumor.

BACKGROUND: Mediastinal cavernous hemangiomas are extremely rare vascular tumors. To the best of our knowledge less than 20 cases of posterior mediastinal hemangioma have been reported in literature, and this is the first case of mediastinal cavernous hemangioma presenting with massive pleural effusion. CASE PRESENTATION: We report a case of a 56-year-old female who presented with cough and chest tightness and was found with a massive pleural effusion in chest CT. It was mistaken for a malignant pleural effusion. A posterior mediastinal lesion was observed after thoracic drainage and misdiagnosed again as neurofibroma. The lesion was resected and post-operative histopathology suggested that it was a cavernous hemangioma. Post-operative recovery was uneventful, and a follow-up examination nearly 14 months later showed the patient had no recurrence. CONCLUSIONS: Due to the lack of diagnostic specificity and variety of clinical manifestations, CHM is often misdiagnosed prior to resection. This is the first description of mediastinal hemangioma presenting with massive pleural effusion. It is very important to consider mediastinal hemangioma before operation to reduce surgical complications, and it should be in the differential diagnosis of posterior mediastinal masses.

Anaplastic large cell lymphoma of breast masquerading suppurative mastitis on cytology / Linfoma anaplásico de células grandes de mama enmascarando mastitis supurativa en citología

Breast is an uncommon site of extra nodal lymphoma accounting for 2.2% of all extra nodal lymphomas. B cell lymphomas are more common than T cell types. The most common subtype is Diffuse Large B Cell Lymphoma. Breast lymphoma is very challenging to diagnose as it has nonspecific clinical and radiological features. We report a rare case of primary T cell lymphoma in a 20-year-old female. It was misdiagnosed as abscess on ultrasound and as suppurative mastitis on fine needle aspiration cytology (FNAC). However, excisional biopsy was suggestive of lymphoma and immunohistochemistry confirmed it as ALK positive, anaplastic large cell lymphoma. Even though FNAC is a part of the diagnostic triad for breast lesions, potential pitfalls cannot be overlooked and must be correlated with biopsy. (AU)

La mama es un sitio poco frecuente de linfoma extraganglionar que representa el 2,2 % de todos los linfomas extraganglionares. Los linfomas de células B son más comunes que los tipos de células T. El subtipo más común es el linfoma difuso de células B grandes. El linfoma de mama es muy difícil de diagnosticar, ya que tiene características clínicas y radiológicas inespecíficas. Presentamos un caso raro de linfoma primario de células T en una mujer de 20 años. Fue mal diagnosticado como absceso en ultrasonido y como mastitis supurativa en citología por aspiración con aguja fina (FNAC). Sin embargo, la biopsia por escisión sugirió linfoma y la inmunohistoquímica lo confirmó como linfoma anaplásico de células grandes ALK positivo. Aunque la FNAC es parte de la tríada diagnóstica de las lesiones mamarias, no se pueden pasar por alto los peligros potenciales y se deben correlacionar con la biopsia. (AU)

Perimedullary arteriovenous fistula was misdiagnosed as intervertebral disc herniation: A case report.

INTRODUCTION: Spinal perimedullary arteriovenous fistula (PMAVFS) is a rare intradural vascular malformation with a high rate of misdiagnosis. In adults, most spinal PMAVFs are small and low-flow, starting with progressive spinal dysfunction. PATIENT CONCERNS: The patient was a 58-year-old male who presented with both lower limbs numb with intermittent walking weakness, obvious at both ankles, and no obvious inducing and relieving factors. The local hospital considered the diagnosis of lumbar disc herniation after MR examination; he was treated with lumbar fixation and fusion. DIAGNOSIS: After admission, a ce-MRA examination showed that the left spinal artery at the T10 level showed small branch blood vessels in the local area. The distal end was unclear, which seemed to be connected with the drainage vein of the spinal cord. The digital subtraction angiography (DSA) result indicated that the left intercostal artery of T10 sent the Adamkiewicz artery down to the level of L4, and an arteriovenous fistula was seen. The fistula was located at the lower edge of the L4 level and then drained to the upper premedullary vein to the level of T4 after a short descending. It was finally diagnosed as a perimedullary arteriovenous fistula. INTERVENTIONS: It was cured by cutting the arteriovenous fistula in the spinal canal by indocyanine green-assisted angiography. OUTCOMES: we report a case of PMAVFS misdiagnosed as lumbar disc herniation with resection and internal fixation. In our hospital, the final diagnosis was a perimedullary arteriovenous fistula, which was cured by cutting off the arteriovenous fistula within the spinal canthus. CONCLUSION: Spinal perimedullary arteriovenous fistula (PMAVFS) is a rare intradural vascular malformation with a high rate of misdiagnosis. In adults, most spinal PMAVFs are small and low-flow, starting with progressive spinal dysfunction. It is hoped that this can provide warnings to more neurosurgeons and reduce the occurrence of misdiagnosis.

Solitary Rectal Ulcer Syndrome: A Rare and Often Misdiagnosed Cause of Rectal Bleeding in Children.

Solitary rectal ulcer syndrome (SRUS) is an uncommon benign rectal disorder. Typically, young adults are affected and it is rare in children. Straining during defecation, self-induced trauma and paradoxical contraction of puborectalis muscle are the major contributing factors of this condition. Clinical features of SRUS are rectal bleeding, mucorrhoea, excessive straining during defecation, tenesmus, feeling of incomplete defecation and constipation. A complete and thorough history is most important for diagnosis of SRUS. Rectal bleeding may be misinterpreted as originating from an anal fissure caused by constipation or as other causes of rectal bleeding such as a juvenile polyp. The best and most accurate diagnostic method of SRUS is rectal biopsy. The major histological feature of SRUS is fibromuscular obliteration of the lamina propria. Avoiding straining, regular toilet habit, use of bulk laxatives, steroid and sucralfate enemas are the mainstay of treatment. Biofeedback mechanism is another treatment option. Because the clinical presentation varies, the diagnosis requires a high index of suspicion for both the clinician and the pathologist.

Bilateral Optic Nerve Head Drusen Complicated by Choroidal Neovascularization Misdiagnosed as Papilledema and Neuroretinitis.

We report a case of bilateral optic nerve head drusen complicated by choroidal neovascularization (CNV) in the left eye at presentation. The presence of optic disc and macular edema in addition to exudation led to the misdiagnosis of neuroretinitis at an outside medical center. Swept-source optical coherence tomography (SS-OCT) and SSOCT angiography were critical in establishing the diagnosis and follow-up in a noninvasive manner. Secondary CNV associated with optic nerve head drusen responded well to intravitreal injections of anti-vascular endothelial growth factor in the left eye. Asymptomatic nonexudative CNV that developed in the right eye during follow-up regressed spontaneously without treatment. [Ophthalmic Surg Lasers Imaging Retina 2022;53:518-521.].