The clinical mimicry of vitamin B12 deficiency can often delay its recognition and treatment. Pernicious anemia remains among its major clinical causes. We report the case of a 32-year-old male who presented with symptoms of progressive darkened skin, fatigue, general weakness, and neurological symptoms, with examination notable of severe conjunctival pallor and prominent hyperpigmentation of the buccal mucosa, hands, and feet. Investigations revealed pancytopenia with critically low serum vitamin B12. The presence of serum intrinsic factor antibodies confirmed the diagnosis of pernicious anemia. Parenteral vitamin B12 supplementation resulted in rapid hematological improvement and resolution of hyperpigmentation. This case underscores that hyperpigmentation, pancytopenia, and neurological symptoms should prompt a higher index of suspicion for vitamin B12 deficiency to prevent severe hematologic and neurologic complications with closer attention given to follow-up.
Leprosy and American cutaneous leishmaniasis are endemic diseases in Brazil that may coexist in the same host, particularly in coendemic regions. We report the case of a 68-year-old woman presenting with a six-month history of an ulcerated lesion on the left knee and concomitant disseminated annular plaques associated with sensory loss, madarosis, and peripheral nerve thickening. Histopathological examination of the ulcer demonstrated findings compatible with cutaneous leishmaniasis; immunohistochemistry using CD1a highlighted structures compatible with amastigotes, acknowledging its limitations. Biopsy of the plaques revealed a chronic granulomatous dermatitis with numerous acid-fast bacilli, corroborating multibacillary leprosy in the appropriate clinical context. The patient was treated with multidrug therapy for leprosy and intralesional meglumine antimoniate for leishmaniasis, with favorable outcomes. To the best of our knowledge, this is the first published report of such coinfection in Ceará. This case highlights the importance of sampling lesions with distinct morphologies and integrating clinical, histopathological, and laboratory findings in endemic settings.
A massive subchorionic hematoma is associated with an increased risk of adverse pregnancy outcomes, including spontaneous abortion, preterm birth, and intrauterine fetal demise. However, current clinical guidelines lack standardized diagnostic criteria and evidence-based management recommendations for massive subchorionic hematomas, particularly during the second trimester. A 34-year-old pregnant woman at 12 weeks and 6 days' gestation presented with acute-onset vaginal bleeding of 1-h duration. Color Doppler ultrasonography revealed an anteriorly located placenta and identified a hypoechoic, well-defined subchorionic collection measuring 109 × 412 mm beneath the chorionic plate of the gestational sac, which was considered a massive subchorionic hematoma at the second trimester. Following written informed consent, intramuscular progesterone was administered to suppress uterine activity, and intravenous cefuroxime was initiated for prophylaxis against infection. Serial monitoring of maternal hemoglobin concentration and subchorionic hematoma dimensions was performed. Following more than 3 months of active fetal surveillance and supportive obstetric management, the patient remained clinically stable. The subchorionic hematoma resolved completely by 28 weeks and 3 days' gestation, and a viable female neonate was delivered by cesarean section at 39 weeks and 1 day's gestation. In conclusion, this study provides a detailed, real-world example of managing a high-risk, massive subchorionic hematoma in the absence of standardized guidelines, which lays a practical foundation for future research.
In recent years, immune checkpoint inhibitors (ICIs) have transformed the treatment landscape for a variety of cancers, yet they are associated with immune-related adverse events (irAEs). Although irAEs commonly affect the skin, gastrointestinal tract, lungs, and endocrine glands, immune-related cystitis and ureteritis are extremely rare and often overlooked. We report on two patients who developed immune-mediated ureteritis and cystitis following treatment with PD-1 inhibitors (tislelizumab and toripalimab). Both patients exhibited urinary frequency, urgency, dysuria, and hematuria without evidence of infection and were unresponsive to empirical antibiotics. Imaging results, combined with clinical symptoms, confirmed the diagnosis of urinary tract irAEs. Symptoms improved markedly following systemic glucocorticoid therapy. Through case analysis and a targeted literature review, we have summarized diagnostic indicators, therapeutic principles, and steroid tapering strategies for managing ICI-associated urinary irAEs. We emphasize the importance of early recognition and standardized management to prevent permanent damage and offer practical guidance for clinicians dealing with these uncommon but clinically significant toxicities.
Difficult intubation is a critical challenge in anesthesia, often linked to anatomical abnormalities. CHARGE syndrome patients are known for airway difficulties due to craniofacial anomalies, yet some cases may present without obvious anatomical predictors. We report the case of an 8-year-old girl with CHARGE syndrome undergoing surgery for choanal atresia. Despite a history of multiple previous surgeries without reported intubation difficulties, she experienced difficult intubation despite the absence of classical anatomical predictors. Standard direct laryngoscopy attempts failed two times, necessitating the use of video laryngoscopy for successful intubation. Preoperative imaging revealed nasal obstruction and severe septal deviation but no significant craniofacial abnormalities that could predict intubation difficulty. This case highlights the unpredictable nature of difficult intubation in CHARGE syndrome, even in patients without apparent anatomical risk factors. The underlying cause remained unclear, suggesting the possibility of subtle airway anomalies or dynamic factors during intubation. The successful use of video laryngoscopy underscores its value in managing difficult airways in such cases. Clinicians should maintain a high index of suspicion for difficult airway management in CHARGE syndrome patients, even in the absence of overt anatomical abnormalities. Preoperative planning should include preparation for advanced airway techniques such as video laryngoscopy to improve patient safety and outcomes.
Acquired amegakaryocytic thrombocytopenia (AAT) in pregnancy is rare, with only one case report previously published on this condition. Our case is a 33-year-old G3P2002 female with severe thrombocytopenia, suspected to be due to AAT, who was managed with eltrombopag, prednisone, and cyclosporine A. The patient delivered at 32 weeks due to preeclampsia with severe features. She had an uncomplicated postpartum course, and the neonate did not have thrombocytopenia. With a multidisciplinary approach to care, our management approach to a patient with severe thrombocytopenia in pregnancy resulted in an uncomplicated delivery, without maternal or fetal complications.
Calciphylaxis, or calcific uremic arteriolopathy (CUA), is a rare, life-threatening syndrome characterized by microvascular calcification and cutaneous necrosis, predominantly affecting patients with end-stage renal disease (ESRD) on maintenance dialysis, particularly those exposed to vitamin K antagonists (VKAs). We report the complex clinical course of a 35-year-old female patient with chronic kidney failure and triple-positive antiphospholipid syndrome (APS) who presented with severe, painful bilateral thigh ulcerations. The patient had been receiving phenprocoumon for 2 years. Given her high-risk profile for thrombosis, managing cutaneous necrosis while maintaining necessary anticoagulation presented a profound clinical dilemma. Histopathological evaluation confirmed the diagnosis of calciphylaxis. VKA therapy was immediately discontinued and replaced with renal-adjusted apixaban to manage her underlying APS as an individualized rescue strategy. A multimodal, sequential wound care regimen was initiated, incorporating serial surgical debridements, negative pressure wound therapy (NPWT), autologous platelet-rich plasma (PRP) infiltration, and acellular fish skin grafting. Following intensive multidisciplinary intervention involving vascular surgery, nephrology, and dermatology, the progression of the disease was successfully halted. Significant wound contraction, stable granulation, and complete epithelialization were achieved without systemic complications. This case underscores that short-term VKA exposure can act as a critical trigger for calciphylaxis in patients with multifactorial risk profiles and demonstrates that a tailored transition to novel oral anticoagulants combined with advanced wound therapies can achieve favorable outcomes in highly complex, refractory scenarios.
Introduction:Functional neurological symptoms, specifically functional dissociative seizures (FDS), frequently coexist with epilepsy and pose severe diagnostic challenges, particularly in resource-limited settings where video-electroencephalography (video-EEG) access is scarce. Overreliance on interictal or noncausal epileptiform EEG abnormalities without rigorous electroclinical correlation risks misdiagnosis and hazardous escalation of antiseizure medications (ASMs). Case Presentation:We report a 17-year-old male from rural Ethiopia with a 4-year history of genetic generalized epilepsy (GGE) and mild intellectual impairment who presented with persistent, variable left lower limb jerking following a road traffic accident involving the same limb. Video-EEG captured the jerking episodes and demonstrated generalized spike-wave and polyspike-wave discharges (3-4 Hz) that coincided temporally with clinical jerks but lacked electrographic evolution, focal cortical origin, or muscle phase-locking on surface recording. The events occurred exclusively during wakefulness with preserved awareness, no autonomic instability, and no postictal state. Sequential ASM trials (levetiracetam, valproate, clonazepam, and phenobarbital) failed to modulate the jerks. The electroclinical presentation was interpreted as electroclinical dissociation, confirming coexisting generalized epilepsy and FDS. The patient had also undergone posterior fossa decompression for Chiari I malformation 9 days prior, which was excluded as a cause for the motor events based on clinical and radiological stability. Conclusion:Diagnostic evaluation of FDS should rely on a positive "rule-in" framework as recommended by international guidelines. Even when epileptiform discharges appear on EEG during clinical events, a lack of physiological congruence between electrographic patterns and semiology confirms electroclinical dissociation.
Guillain-Barré syndrome (GBS) is an immune-mediated disorder of the peripheral nervous system characterized by progressive weakness and often triggered by infections. GBS has an estimated mortality rate of approximately 5%, with a worldwide incidence of 0.81-1.91 cases per 1,00,000 person-years. This case reported a 23-year-old man presented with progressive weakness in all four extremities. An initial neurological examination revealed bilateral total ophthalmoplegia, ptosis on both eyes, bilateral facial palsy lower motor neuron (LMN) type, dysarthria, dysphagia, flaccid tetra-paresis, gloves, and stocking paresthesia. Lumbar puncture showed cytoalbumin dissociation. Nerve conduction studies showed a demyelinating sensorimotor polyradiculoneuropathy lesion. The patient received intravenous immunoglobulin (IVIG) treatment 0.4 g/kg/day for 5 days, physical rehabilitation therapy, nutritional support, multidisciplinary care involving anesthesiology and intensive care teams, and other symptomatic treatments. At five-month follow-up, the patient demonstrated complete recovery. GBS typically presents as an acute ascending sensorimotor neuropathy; however, atypical presentations may occur. Extensive cranial nerve involvement-including complete ophthalmoplegia, bilateral facial palsy, and bulbar dysfunction-in AIDP is uncommon and may mimic other GBS spectrum disorders. Early recognition, prompt immunotherapy, and careful electrophysiological evaluation are essential for optimizing patient outcomes. Because electrodiagnostic classification of GBS may evolve over time, serial nerve conduction studies should be considered whenever feasible to improve subtype classification and diagnostic confidence.
Collapsing glomerulopathy is a severe form of focal segmental glomerulosclerosis (FSGS) that can occur as a primary or secondary condition, often in the context of infections such as HIV. Multiple myeloma can cause kidney injury through mechanisms such as cast nephropathy, while malaria-associated kidney injury is most often due to acute tubular necrosis. We present the case of a 47-year-old male of African descent with well-controlled HIV infection who became critically ill with severe AKI requiring intensive care and renal replacement therapy. A blood smear confirmed Plasmodium falciparum infection, and the clinical course was further complicated by a previously undiagnosed multiple myeloma. Given the multiple potential etiologies, a kidney biopsy was performed, which ruled out myeloma-associated kidney injury and revealed collapsing glomerulopathy. The temporal association with the malaria infection, together with the well-controlled HIV status, pointed to malaria-associated collapsing glomerulopathy as the most likely diagnosis. This case highlights the diagnostic challenges of AKI in critically ill patients with overlapping comorbidities and underscores the value of kidney biopsy in guiding the differential diagnosis.
Pruritus is a known but uncommon symptom of hyperthyroidism that can be misinterpreted or overlooked in a patient presentation. This is a case report of a 40-year-old female who presents with a 3-month history of severe, worsening pruritus. Further history demonstrated potential signs of hyperthyroidism, and laboratory values demonstrated low TSH levels, high T4 levels, and positive TSH receptor antibodies. A thyroid scan was performed, and increased uptake confirmed the diagnosis of Graves' disease in this patient. After discovering that the patient was pregnant, treatment with propylthiouracil was begun for the first 12 weeks of her pregnancy, with a switch to methimazole after the first 12 weeks. Graves' disease must be considered in the differential diagnosis of generalized pruritus, with thorough history and analysis of symptoms essential to determine if underlying hyperthyroidism may be present.
HELLP syndrome, characterized by hemolysis, elevated liver enzymes, and low platelets, is a severe form of preeclampsia that can result in rare life-threatening rupture of a hepatic hematoma, causing intra-abdominal hemorrhage. This complication has been reported in up to 1.6% of HELLP syndrome cases. Here, we report a patient who developed intra-abdominal hemorrhage due to a ruptured subcapsular hepatic hematoma at 21 weeks of gestation, representing an unusually early presentation of this complication. Despite surgical treatment, the pregnancy was lost, and 5 days after discharge, the patient died at home due to pulmonary embolism. This case highlights the potential for early and potentially fatal complications of HELLP syndrome.
Relapsing polychondritis (RP) is a rare immune-mediated inflammatory disorder primarily affecting cartilaginous tissues throughout the body that may involve other connective tissues. The initial manifestation is often auricular chondritis, and cutaneous presentations are relatively uncommon. Approximately 30% of RP cases have an association with autoimmune diseases, but it is incredibly rare for there to be any coexistence with inflammatory bowel disease (IBD). Sweet syndrome (SS), which is also known as acute febrile neutrophilic dermatosis, also has an association with autoimmune disorders and is considered to be an incredibly rare extraintestinal IBD manifestation. In this article, a case of a patient simultaneously presenting with auricular chondritis, ulcerative colitis (UC), and SS, which had an effective response to systemic corticosteroid therapy is reported. As far as we are aware, this is the first reported case of the coexistence of these three disorders, and it will provide valuable insights into the diagnosis and management of RP that is complicated by UC and other associated conditions.
Background:Lung cancer is a leading cause of cancer-related death worldwide, with bone metastasis frequently seen in advanced stages and often located in the axial skeleton or proximal long bones. Metastasis to the elbow is extremely rare and poses diagnostic and therapeutic challenges. Case Presentation:We report the case of a 39-year-old male with a history of smoking and recent occupational exposure, presenting with an 8-month history of progressive pain, swelling, and limited mobility in the left elbow. Imaging revealed an osteolytic lesion in the distal humerus, prompting further evaluation. A biopsy confirmed metastatic adenocarcinoma from a primary lung tumor. Following diagnosis, the patient underwent a targeted treatment regimen, including chemotherapy, immunotherapy, and localized radiotherapy for elbow metastasis. After 2 years of treatment, the patient achieved complete oncological remission. Conclusion:This case underscores the potential for positive outcomes in rare presentations of metastatic lung cancer to atypical sites such as the distal humerus. Although bone metastasis in lung cancer usually signals poor prognosis and limited therapeutic options, a personalized, multimodal treatment approach can substantially improve outcomes, even in advanced-stage lung cancer with unusual metastasis.
Hereditary angioedema (HAE) is a rare, potentially life-threatening genetic disorder characterized by recurrent episodes of localized subcutaneous or submucosal swelling resulting from C1 esterase inhibitor deficiency or dysfunction. We report the case of a 7-year-old girl who presented with acute left-sided facial and upper lip edema that initially appeared as periorbital discoloration resembling ecchymosis following an upper respiratory tract infection. Her history included recurrent self-limited swelling episodes and an initially unrecognized family history of angioedema. Physical examination demonstrated nonpitting, nonpruritic facial edema without signs of airway compromise. Routine laboratory investigations were unremarkable. Complement testing subsequently confirmed HAE Type I, demonstrating markedly reduced C1 esterase inhibitor antigen and C4 levels with normal C1q concentrations. Because specific C1-INH replacement therapy was unavailable, the patient received fresh frozen plasma (approximately 15 mL/kg), resulting in complete clinical resolution within 3 days. This case highlights the diagnostic challenges of pediatric HAE, particularly when clinical manifestations mimic more common allergic, infectious, or traumatic conditions. It also illustrates the importance of early recognition, timely complement testing, and family screening for establishing the diagnosis. Furthermore, this report demonstrates that fresh frozen plasma may serve as an effective therapeutic alternative for acute attacks in resource-limited settings where targeted therapies are inaccessible. Early diagnosis, patient education, trigger avoidance, and appropriate long-term follow-up remain essential to reduce morbidity and prevent potentially life-threatening complications.
Background:Xp11 translocation renal cell carcinoma (tRCC) is a rare and aggressive renal cancer characterized by gene fusion involving TFE3. It accounts for < 5% of renal cancers and shows variable responses to conventional antivascular endothelial growth factor therapies. Optimal treatment strategies for metastatic cases have not been determined. Objective:To report the clinical presentation, molecular diagnosis, and therapeutic response of an adolescent patient with metastatic Xp11 tRCC treated with pembrolizumab and lenvatinib. Methods:A 17-year-old female presented with a large left renal mass, gross hematuria, extensive metastases to the supraclavicular, mediastinal, and intra-abdominal lymph nodes, and pleural nodules. Immunohistochemistry confirmed transcription factor E3 (TFE3) positivity, and next-generation sequencing identified an ASPSCR1-TFE3 fusion. Following renal embolization for local control, the patient received systemic therapy (pembrolizumab at 200 mg/dose given every 3 weeks and lenvatinib at 10 mg-20 mg/day). Results:The patient showed rapid clinical improvement, with her Eastern Cooperative Oncology Group Performance Status Scale grade improving from 3 to 1 after the initial cycles. CT imaging after the sixth cycle demonstrated a marked reduction in the size of the primary tumor and in the sizes and numbers of metastatic lesions, involved lymph nodes, and pleural nodules. The patient recovered to normal well-being. Conclusion:Pembrolizumab combined with lenvatinib showed significant antitumor activity in an adolescent with advanced ASPSCR1-TFE3 fusion Xp11 tRCC. These findings support the utility of molecular profiling of renal tumors in young adults and suggest that this combination is an effective treatment option for this subtype of renal cancer.
Rhabdomyolysis is a condition in which damaged muscle tissue breaks down and typically presents with muscle pain, weakness, and dark-colored urine, along with markedly elevated serum creatine kinase (CK) levels. Common lab findings include hyperkalemia, hyperphosphatemia, hypocalcemia, elevated lactate dehydrogenase (LDH), acute kidney injury (AKI), and elevated aspartate aminotransferase (AST), with a typical CK:AST ratio of approximately 20:1. This report describes a 26-year-old man with no prior medical history who developed dark urine and lower back pain after a high-intensity functional training (HIFT) session following a prolonged period of inactivity. Laboratory evaluation revealed an extraordinarily high CK of 260,100 U/L, AST of 2049 U/L, and ALT of 208 U/L, yielding a CK:AST ratio of approximately 127:1. Urinalysis showed myoglobinuria, while renal function and electrolytes remained normal throughout hospitalization. He was managed with intravenous fluids for 36 h, transitioned to oral hydration, and discharged on Day 6 with declining CK and AST levels. This case underscores that severe rhabdomyolysis may occur in the absence of renal dysfunction or electrolyte abnormalities and highlights the importance of prompt recognition and treatment even when traditional laboratory abnormalities are absent. The strikingly abnormal CK:AST ratio challenges reliance on expected lab patterns. Recognizing these atypical presentations is crucial for timely diagnosis and management. Early fluid resuscitation and close monitoring remain essential, even when routine findings appear normal.
Introduction:Klippel-Trénaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of capillary malformation, varicosities, and limb hypertrophy, with an incidence of 2-5 per 100,000. Gastrointestinal (GI) involvement in KTS may be present in over 30% of patients, typically presenting with pain and bleeding. While bleeding is a well-described symptom of GI involvement in KTS in the medical literature, diarrhea remains an uncommon and underreported manifestation. This report highlights this unique finding and the diagnostic complexity it presents. Case Presentation:A 64-year-old male presented to the hospital with recurrent foul-smelling bloody diarrhea over the past two months. He had been previously diagnosed and treated for ulcerative colitis. Physical examination revealed pallor, macrodactyly, and segmental hypertrophy of the lower left limb. Investigations demonstrated severe iron-deficiency anemia, splenomegaly, fundal varices, and a continuous 15-cm colonic involvement from the anal verge with varicosities and bleeding. This led to the establishment of a diagnosis of KTS. Conclusion:This case highlights the diagnostic challenge that may arise from the complexity and variability of KTS presentations, which can mimic inflammatory bowel disease (IBD) due to findings like bloody diarrhea and extensive colonic involvement. Although diarrhea is rarely reported as a manifestation of KTS, it might result from existing GI vascular and lymphatic malformation, potentially leading to protein-losing enteropathy. Awareness of this atypical presentation and early multidisciplinary evaluation are crucial for symptom control, preventing complications, and improving quality of life.
Purpose:To describe the clinical presentation, multimodal imaging findings, and management of patients with choroidal osteoma observed at a tertiary ophthalmic center. Methods:A retrospective case series of three patients (four affected eyes) diagnosed with choroidal osteoma at the Kazakh Eye Research Institute, Almaty, Kazakhstan. All patients underwent a comprehensive ophthalmic examination, including best-corrected visual acuity assessment, fundus photography, B-scan ultrasonography, optical coherence tomography (OCT), fluorescein angiography (FA), OCT angiography, and computed tomography (CT). Results:The patients presented with decreased vision, progressive visual impairment, or vitreous floaters. Choroidal osteoma was identified as a yellowish-white or orange peripapillary subretinal lesion with well-defined borders. Multimodal imaging demonstrated characteristic calcified choroidal lesions with high acoustic reflectivity on ultrasonography, hyperdense plaques on CT, and hyperreflective heterogeneous structures on OCT corresponding to cancellous bone architecture. None of the patients demonstrated active choroidal neovascularization at presentation. Associated systemic or inflammatory conditions included systemic lupus erythematosus, retinal vasculitis, and chronic infectious exposure. All patients were managed conservatively with regular follow-up because of the absence of severe complications requiring intervention. Conclusions:Choroidal osteoma is a rare benign ossifying tumor that predominantly affects young individuals and may be associated with inflammatory or immune-mediated conditions. Multimodal imaging is essential for accurate diagnosis and monitoring. Although tumor progression is usually slow, long-term surveillance is necessary because of the risk of decalcification, retinal pigment epithelium atrophy, serous retinal detachment, and choroidal neovascularization.
Premature ovarian insufficiency (POI) is a clinical syndrome characterized by ovarian failure in women of reproductive age before the age of 40 years. Its main manifestations include menstrual cycle disturbances, such as oligomenorrhea or amenorrhea. The etiology of POI is highly heterogeneous, with a particular emphasis on genetic and immunological factors. In addition, the condition may be associated with other rare diseases, such as Vogt-Koyanagi-Harada (VKH) syndrome. Our study aimed to describe a rare clinical case of a patient from Manaus, Amazonas, Brazil, who was simultaneously diagnosed with two rare conditions: POI and VKH syndrome, with a specific focus on their etiological characteristics, clinical manifestations, and laboratory findings. Clinical data were collected from the patient's medical record, as registered in the outpatient clinic database at Araújo Lima Hospital. Case description: The case involves a 38-year-old, nulliparous, mixed-race, married female patient diagnosed with POI and VKH syndrome. The understanding of these rare syndromes and the search for an integrated approach are fundamental to ensure better clinical outcomes, quality of life, and reproductive planning for affected patients. This report provides relevant information on the association between two rare syndromes, with the aim of contributing to medical decision-making and diagnostic clarification, as well as providing guidance on appropriate multidisciplinary follow-up. Thus, early diagnosis and appropriate treatment are essential steps in promoting this patient's health.
