Unusual Clinical Presentation Research Articles

H3K27-Altered Diffuse Glioma of the Spinal Cord in Adult Patients: A Qualitative Systematic Review and Peculiarity of Radiological Findings.

Background: Primary spinal cord diffuse gliomas (SpDG) are rare tumors that may harbor, like diffuse intrinsic pontine gliomas (DIPG), H3K27M mutations. According to the WHO (2021), SpDGs are included in diffuse midline H3K27-altered gliomas, which occur more frequently in adults and show unusual clinical presentation, neuroradiological features, and clinical behavior, which differ from H3 G34-mutant diffuse hemispheric glioma. Currently, homogeneous adult-only case series of SpDG, with complete data and adequate follow-up, are still lacking. Methods: We conducted a qualitative systematic review, focusing exclusively on adult and young adult patients, encompassing all studies reporting cases of primitive, non-metastatic SpDG with H3K27 mutation. We analyzed the type of treatment administered, survival, follow-up duration, and outcomes. Results: We identified 30 eligible articles published between 1990 and 2023, which collectively reported on 62 adult and young adult patients with primitive SpDG. Postoperative outcomes were assessed based on the duration of follow-up, with outcomes categorized as either survival or mortality. Patients who underwent surgery were followed up for a mean duration of 17.37 months, while those who underwent biopsy had a mean follow-up period of 14.65 months. Among patients who were still alive, the mean follow-up duration was 18.77 months. The radiological presentation of SpDG varies widely, indicating its lack of uniformity. Conclusion: Therefore, we presented a descriptive scenario where SpDG was initially suspected to be a meningioma, but was later revealed to be a malignant SpDG with H3K27M mutation.

A RARE CASE OF TYPE A AORTIC DISSECTION PRESENTING AS ACUTE STROKE: A DIAGNOSTIC CHALLENGE

Abstract A 60–year–old woman presented to the emergency department with acute left hemiplegia, not chest pains. Past medical history was significant for family history of aortic aneurysm, arterial hypertension. At brain–CT was reported hypodensity areas in posterior arm of the right internal capsule and in right tempero–polar lobe, confirmed on brain–MRI, and compatible with acute ischemic injury. Echocolor–dopper of epiaortic vessels documentated ulcerated plaque into the right common carotid artery (CCA). Selective catheterization found focal dissection obstructing the flow, treated with self–expanding stent. On echocardiography evalutation for suspiction of TAAD: dilatation of ascending aorta with flap oscillation, severe arotic regurgitation, pericardial effusion (Fig. 1). CT–Angiography was performed with evidence of type A dissection extending superiorly to the right CCA and inferiorly to the iliac bifurcation. For coma state, the patient was mechanically ventilated, and seriate CTs showed new ischemic lesions and hemorrhagic infarction of previous. Because of contraindication for cardiac surgery due neurological state, the patient was referred at medical therapy as bridge to hybrid aortic arc substitution at resolution of intracranial hemorrhages. In the next days there was progressive improvement neurological status with restoration of sensory and autonomic breathing with hemodynamic stability. Aortic dissection (AD) is defined as a disruption of the medial layer leading to the formation of two lumens separated by an intimomedial flap. AD is a critical diagnosis to make due to life–threatening outcomes and its non–specific presentation as in the case of our patient where the management of AD was delayed due to an unusual initial clinical presentation. Multimodality imaging approach has been fundamental for correct diagnosis and risk stratification. A limited number of studies have reported cases with stroke as the first symptom with concomitant TAAD. Concomitant intracerebral hemorrhage and TAAD is a very rare presentation and the optimal timing of surgery in these patients is unknown. In our opinion, patients who presents acute stroke should be carefully evaluated using multimodal imaging to exclude TAAD before administering reperfusion therapy. In addition, performing CAS before surgery for TAAD is challenging but might be a valid treatment option to maintain good brain perfusion and improve prognosis, but further investigations are needed.

Amputation Triggered by Gefitinib: An Unusual Clinical Presentation

Amputation Triggered by Gefitinib: An Unusual Clinical Presentation

Sweet Syndrome as a Herpetiform Mimic: A Diagnostic Challenge.

The authors present a singular case of Sweet syndrome (acute febrile neutrophilic dermatosis) manifesting with an unusual herpetiform clinical presentation, underscoring the imperative for its inclusion in differential diagnoses of herpetic infections. A 26-year-old female patient with a systemic lupus erythematosus history presented with facial edema, hyperthermia, cephalalgia, and polyarticular pain. Dermatological examination revealed clustered, vesicle-like papules on erythematous, edematous skin, mimicking herpetic infection. Elevated acute-phase reactants and urine anomalies were noted. Histopathology confirmed Sweet syndrome, characterized by superficial and deep neutrophilic dermatitis, karyorrhexis, and papillary dermal edema. The patient responded to corticosteroid therapy and a brief antibiotic course, resolving both systemic and cutaneous symptoms. This case is remarkable for its atypical herpetiform presentation, a clinical rarity in Sweet syndrome, challenging the conventional diagnostic process. It emphasizes the necessity of considering Sweet syndrome in differential diagnoses when encountering herpetiform lesions, particularly in patients with autoimmune backgrounds. This case contributes significantly to the understanding of Sweet syndrome's clinical variability and highlights the critical role of thorough clinicopathological evaluation in achieving accurate diagnosis in complex dermatological disorders.

Diagnosis of systemic mastocytosis with cryptic deletion of TET2 and DNMT3A resulting from unbalanced translocation.

Systemic mastocytosis (SM) is a rare haematological neoplasm associated with the gain of function mutation KIT D816V in 90% of adult patients. Classically, cytogenetic aberrations are not common except in cases of SM associated with another haematological neoplasm. We highlight here an unusual clinical presentation of SM and demonstrate the utility of advanced cytogenetic analysis (optical genome mapping, OGM) in detecting a novel cytogenetic abnormality resulting in an unusual mechanism of DNMT3A and TET2 loss of function.

Unusual Presentation of Acrodermatitis Chronica Atrophicans Resulting in Delay of Diagnosis and Inappropriate Treatment in Three Cases

Acrodermatitis chronica atrophicans (ACA) is not an infrequent condition in Europe. However, the characteristic skin lesions are often confused by non-dermatologists with other conditions. We report three unusual cases in which we made a definitive diagnosis of ACA complicated by cutaneous marginal zone lymphoma, juxta-articular fibrotic nodules, or bilateral sensory polyneuropathy. In all cases, correct diagnosis and adequate treatment was delayed over a period of at least 12 months. We initiated systemic antibiotics resulting in full recovery in these patients. The present case reports underscore that ACA may be associated with unusual clinical presentation which potentially result in delay of correct diagnosis and treatment. Hence, ACA diagnosis may be considerably delayed leading to inappropriate therapy exposure, prolonged patients’ suffering, and causing unnecessary cost. Thus, physicians who are not familiar with skin conditions should seek a timely consultation a dermatologist.

Nasopharyngeal tumors with unusual presentations: a retrospective analysis from Saudi Arabia

The most common malignant lesion in the nasopharynx is the nasopharyngeal carcinoma (NPC), commonly presents with painless upper cervical lymphadenopathy secondary to nodal metastasis and the undifferentiated type is the most common diagnosis. Compared with other types of cancers, NPC is uncommon, albeit with a high difference in geographical distribution where the worldwide cases account for only 0.6% of all annually diagnosed cancers diagnosed, however, in Saudi Arabia the overall incidence among all age groups is 0.1–0.13 per 10 000. Other rare types of malignancies are also seen at the nasopharynx and due to the nonspecific clinical and imaging characteristics; the preoperative diagnosis may be difficult. This study retrospectively assessed the nasopharyngeal tumors diagnosed in a referral hospital in Al-Baha regions, Saudi Arabia during 10 years period that came with unusual presentations at the level of clinical, radiological, or pathological features to raise the awareness of healthcare provides by these entities. Twenty patients were included and revealed unusual (atypical) clinical presentation in 50% of case including a case presented with respiratory symptoms as a first presentation where multiple lung foci were seen and proved to be a metastatic NPC. Histopathological diagnoses were challenging for 40% of the cases revealing unusual malignant types. In summary, however, the nasopharyngeal malignancy is a rare entity, accurate diagnosis may be missed in clinical or even in the pathology examination. Surgeons and pathologists should be aware of the unusual presentation to provide early and more accurate diagnosis for such serous tumors.

Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature.

Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases. A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as "hairy kidneys." He underwent. Three bone biopsies were unsuccessful to reach diagnosis. A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E. The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs. At the 1-year follow-up, there was only progression of chronic kidney disease (CKD). The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.

Cerebral malaria presenting as nonconvulsive status epilepticus: a case report

BackgroundMalaria is an infectious malady caused by Plasmodium parasites, cerebral malaria standing out as one of its most severe complications. Clinical manifestation include elevated body temperature, loss of consciousness, and seizures. However, reports of cerebral malaria presenting as nonconvulsive status epilepticus are extremely rare. The case presented involves psychiatric symptoms, with the electroencephalogram indicated nonconvulsive status epilepticus associated with cerebral malaria.Case presentationA 53-year-old male, was urgently admitted, due to confusion and abnormal behaviour for 10 h. The patient returned to China after developing a fever while working in Tanzania two months ago. The blood smear revealed Plasmodium vivax and Plasmodium falciparum, and he was diagnosed with malaria. He recovered following anti-malarial treatment. After admission, the patient was confused, unable to communicate normally, and unwilling to cooperate with the physical examination. Plasmodium was not found in the blood smear, but the DNA sequence of P. falciparum was discovered using metagenomic next-generation sequencing of cerebrospinal fluid. Brain MRI revealed no significant abnormalities. Continuous electroencephalogram monitoring revealed that the patient had non-convulsive status epilepticus, which was treated with diazepam and levetiracetam. The patient had normal consciousness and behaviour. He received anti-malarial treatment for two weeks and fully recovered.ConclusionsThis case demonstrates that nonconvulsive status epilepticus can be a manifestation of cerebral malaria. It is imperative for attending physicians to heighten vigilance when encountering patients with a history of travel to malaria-endemic regions or a prior malaria infection, especially in the presence of unusual clinical presentations.

Immune recovery uveitis in Whipple’s disease: an unusual ocular presentation

PurposeTo describe an unusual case of Whipple’s disease (WD) complicated by uveitis, and subsequent paradoxical worsening after effective antibiotic treatment targeting Tropheryma whipplei (TW).MethodsCase report.ResultsA 53-year-old male presented with bilateral knee arthritis, weight loss, chronic low-grade fever, and cognitive disorders. He was under treatment with tumor necrosis factor α inhibitors (TNFi) for seronegative spondyloarthritis. Given this unusual clinical presentation, further investigations were performed and revealed blood, saliva, stool, synovial fluid and cerebrospinal fluid positivity for TW, confirming the diagnosis of systemic WD. Ophthalmologic examination revealed bilateral posterior uveitis and an aqueous humor sample confirmed the presence of intraocular TW. TNFi were stopped, and the patient was subsequently treated with adequate antibiotics (ceftriaxone, followed by doxycycline and hydroxychloroquine), and subconjunctival corticosteroid injections. After a transient improvement of the ocular symptoms, he presented a recurrence of posterior segment inflammation, leading to repeated PCR testing for TW which were negative. Therefore, paradoxical worsening of the inflammation in the context of immune recovery uveitis (IRU) was thought to be the culprit. The patient was treated with systemic corticosteroid therapy, allowing for rapid improvement of the ocular findings.ConclusionsThis case underlines the possibility of IRU complicating WD. Ophthalmologists, rheumatologists, and internists should be aware of this rare complication, particularly in the context of previous immunosuppressive therapy.

Clinical manifestation and diagnostic challenges of SAPHO Syndrome: a case report

Clinical manifestation and diagnostic challenges of SAPHO Syndrome: a case report

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier.

Xeroderma pigmentosum (XP), a rare inherited condition, hallmarked by extreme sensitivity to sun exposure resulting in multiple skin cancers and non-malignant skin alterations is attributed to homozygous inactivating pathogenic variants (PVs) in DNA repair genes, predominantly the XPC gene. Report a unique phenotypic expression of mutant XPC allele that may be compatible with a putative modifier role for MC1R polymorphism. A family of 13 siblings, seven of whom were diagnosed with at least one cutaneous melanoma (N = 53) and non-melanoma skin cancers (N = 9) was studied. Of seven melanoma-affected cases, five consented for genetic analysis. CDKN2A revealed no PV in any case and subsequent whole-exome sequencing (WES) identified a rare homozygous missense PV (c.919C>T; p.Arg307Trp) in exon 8 of the XPC gene in all affected individuals. Notably, XPC PV carriers who co-harbored the p.I155T MC1R variant (N = 3) exhibited larger number of tumors, deeper Breslow indexes, higher rates of invasive melanomas and earlier age at diagnosis compared with non MC1R variant carriers (N = 2). Familial malignant melanoma phenotype may, in fact, be an unusual clinical presentation of XPC, and MC1R may be a genetic modifier of penetrance and phenotype of mutant XPC alleles.

Sarcoidosis Masquerading as Miliary Tuberculosis: A Case Report

A miliary nodular pattern of the lungs is an unusual presentation of sarcoidosis. Diagnosis of this condition can be challenging and requires exclusion of other lung pathology. A 47-year-old African American male presented to his doctor with a complaint of unintentional weight loss, exertional dyspnea and cough. The patient had a history of chronic smoking as well as recent incarceration. A miliary nodular pattern was found on CT scan of the lungs in a random distribution (with prominent peri-lymphatic distribution). HIV was ruled out. Tuberculosis (TB) and fungal infections were ruled out by tissue specimens and cultures from bronchoalveolar washings. Non-caseating granulomas on tissue specimens, peripheral smear lymphopenia and an elevated angiotensin converting enzyme (ACE) level were the positive findings on pathology and labs. The patient responded to a tapering course of oral steroids. This case demonstrates one of the unusual clinical presentations of sarcoidosis. Sarcoidosis is an autoimmune condition with predilection for middle aged African American patients.

Primary Skeletal Muscle Diffuse Large B Cell Lymphoma in Lumbar Region – A Rare Occurrence

Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma worldwide. Patients most often present with a rapidly growing tumour mass in single or multiple, nodal, or extranodal sites. Extranodal involvement is seen in up to 40% cases. Initial presentation as soft tissue lesion is rare. We report a case of extranodal DLBCL in an elderly male, presenting as a soft tissue mass in the left lumbar region, clinically suggestive of lipoma. The patient had no palpable lymphadenopathy. Complete blood counts were within normal limits. Initial ultrasonography was suggestive of abscess, possibly of tubercular origin. On fine needle aspiration cytology, features were of a malignant neoplasm; a lymphomatous process. Subsequent histopathological evaluation followed by IHC confirmed the diagnosis of DLBCL. Primary extranodal DLBCL involving the soft tissue is rare. Owing to its non- specific and unusual clinical presentation, accurate diagnosis may be delayed. Besides, imaging modalities are also diagnostically challenging due to a wide range of differentials, thereby emphasising the need for tissue diagnosis. Histopathological examination and immunohistochemistry are paramount in accurate diagnosis and tailoring treatment options.International Journal of Human and Health Sciences Vol. 08 No. 01 Jan’24 Page: 95-98

First case report of caudal regression syndrome in a Syrian patient with unusual clinical presentation

Agenesis of the sacrum, lumbar and thoracic vertebrae, is a congenital malformation, associated with other complex genetic syndromes. Sacral agenesis is the partial, or total absence of lower vertebral bodies, can occur isolated or in association with other syndromes including spinal cord anomaly such as (VACTREL syndrome, and Currarino triad).1 The incidence of sacral agenesis is 1/50 000 in general population but is 200 times more frequent in infants of diabetic mothers.2 Usually, children with sacral agenesis have dysmorphic features; to note that around 20% of the cases are undetected until the age of 3- 4 years old and many are diagnosed after unsuccessful toilet training. One of the rarest congenital disorders is “Caudal regression syndrome” that affects the distal spinal segments and result in sequelae on the development of the spinal cord. This syndrome has a low incidence in general population, it is characterized by lower limbs deformities with sensory and motor loss, along with neurogenic bladder however, intelligence is conserved. The exact etiology is vague, yet there is an obvious relation with maternal diabetes. Also, the true cause is still unknown, some theories, state the role of genetic factors, hypoperfusion, and teratogens in the pathogenesis of this syndrome. Treatment is mostly supportive, and multidisciplinary. Prenatal imaging studies allow for consistent detection and diagnosis. The physical exam and the diagnostic test required in the newborn period help in the detection of probable complications and establishing a prognosis. We present a clinical case of a girl with a diagnosis of Caudal regression syndrome, describing the workup and management of this patient.

Unusual Presentations of Epilepsy: A Series of Paediatric Cases with Abdominal Epilepsy and Epileptic Angina

Epilepsy, a common neurological disorder characterised by recurrent seizures, can manifest in unusual clinical presentations such as abdominal pain, nausea, vomiting, and bloating associated with diverse Central Nervous System (CNS) symptoms like confusion, fatigue, headache, dizziness, and syncope. The importance of recognising and documenting such unusual presentations lies in their potential to be misdiagnosed or overlooked, delaying appropriate treatment and causing undue distress to both the patients and their families. In the present case series, patients presented with gastrointestinal or chest pain for a prolonged period. As the symptoms did not subside with treatment, an Electroencephalogram (EEG) was performed to rule out epilepsy. In all three cases (10-year and 10-month-old female, 11-year-old male, seven-year-old male), EEG revealed a generalised seizure disorder. The present case series highlights unusual presentations of epilepsy in paediatric patients, including Abdominal Epilepsy (AE) and epileptic angina. These cases underscore the importance of considering epilepsy as a potential aetiology in patients with recurrent and atypical symptoms.

CASE-FB-05 - Irony of Iron: Unusual Clinical Presentation and Rare Genetic Mutation in Young Adult

CASE-FB-05 - Irony of Iron: Unusual Clinical Presentation and Rare Genetic Mutation in Young Adult

Incidental Primary Cystic Duct Lymph Node Tuberculosis in a 28-year-old Female: A Rare Case Report

Tuberculosis (TB) is an infectious disease caused by acid-fast bacilli Mycobacterium tuberculosis (MTB). The lung remains the most common site involved by it. Extrapulmonary sites of TB are lymph nodes, pleura, bone, joints, urogenital tract, and meninges. Isolated Cystic Duct Tubercular Lymphadenitis (CDL TB) without involving the gallbladder is an uncommon manifestation of TB that primarily affects the lymph nodes around the cystic duct. A multidisciplinary approach is essential for accurate diagnosis and successful management of such cases. The authors hereby present a case of a 28-year-old female, without any evidence of TB elsewhere and an incidental finding of CDL TB. “The patient was sent with a clinical diagnosis of Chronic Calculus Cholecystitis (CCC)”. This highlights the need for comprehensive clinical evaluation and diagnostic investigations to avoid misdiagnosis or delayed management. This underscores the significance of maintaining a high index of suspicion for extrapulmonary TB, particularly in regions where the disease remains endemic. Healthcare practitioners should be vigilant when encountering unusual clinical presentations or when dealing with atypical combinations of gallbladder pathologies, as illustrated by the concurrent occurrence of CDL TB with CC with evidence of Pyloric Metaplasia (PM) and cholesterolosis without cholelithiasis, as in the patient of the present case report.

Unprecedented Coexistence of Autoinflammatory Myositis and Chronic Thrombosis with heterozygotic M694V mutation: An atypical presentation of Familial Mediterranean Fever.

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder predominantly characterized by periodic fever, abdominal pain, and joint manifestations. It can exhibit various atypical presentations and affects individuals globally. However, cases of FMF concurrently presenting with chronic thrombosis and myositis have not been previously reported. A 41-year-old male presented with alternating severe bilateral leg pain, stiffness, and localized swellings without fever or abdominal symptoms. His history included recurrent inflammatory joint pain treated with prednisolone. Physical examination revealed leg pain, limited ankle joint movement, and tender swellings in thighs, forearms, and feet. Collateral abdominal veins were also observed. Unresponsive to prednisolone and colchicine, the patient underwent MRI, revealing muscle inflammation in both legs and thighs and chronic thrombosis in the infrarenal inferior vena cava. Genetic testing confirmed the heterozygotic M694V mutation, diagnosing an atypical FMF. Anakinra treatment led to substantial clinical and laboratory improvement. Although FMF diagnosis typically relies on characteristic clinical features and genetic analysis, atypical presentations challenge established criteria. This case uniquely showcases coexisting myositis and chronic thrombosis in FMF. Myalgia is common in FMF, with M694V mutation associated with severe muscular symptoms. The lack of fever and myositis findings differentiate our case from protracted febrile myalgia syndrome. FMF's chronic inflammatory state is known to influence thrombosis risk, and our findings align with this association. Chronic thromboembolism and myositis together signify an unusual clinical presentation of FMF. This case highlights the potential for FMF to present with complex manifestations beyond the conventional symptoms. Myositis and vascular involvement should prompt consideration of FMF diagnosis when combined with patient history, clinical features, and laboratory results. These rare associations underscore the need for further research to enhance understanding of FMF's diverse clinical spectrum.

Primary pericardial angiosarcoma with pleural metastasis: an unusual clinical presentation

Abstract Introduction/Objective Primary pericardial angiosarcoma is an uncommon, aggressive cardiac neoplasm that arises from the endothelial cells of blood vessels. It typically affects middle-aged men and has a poor prognosis due to early metastasis. Unfortunately, there are currently no established guidelines or effective treatments for this rare malignancy. The purpose of this case study is to emphasize the significance of recognizing the unspecific presentations of pericardial angiosarcoma and ensuring timely diagnosis and appropriate treatment. Methods/Case Report A 56-year-old male presented with recurrent pericardial effusion and exudative pleural effusion. The radiologic studies showed a thickened pericardium with right-sided pericardial effusion and a large right- sided pleural effusion. Resected partial pericardium and parietal pleura showed the presence of epithelioid to spindled cells that formed solid sheets and vascular structures filled with numerous red blood cells. The tumor cells were cytologically malignant, with angulated shapes and hyperchromatic nuclei, and showed extensive invasion into the surrounding connective tissue. Mitotic figures were variably visualized, and there was abundant hemorrhage. Immunohistochemical analysis of the lesional cells showed positivity for ERG, CD31, Factor VIII, and retention of Methylthioadenosine phosphorylase (MTAP) and BRCA1-associated protein 1 (BAP1), while they were negative for WT1, calretinin, claudin-4, and p40. Based on the morphology and immunoprofile, a diagnosis of high grade angiosarcoma was rendered, and the patient underwent chemotherapy. The overall survival of the patient was 8 months to date. Results (if a Case Study enter NA) NA Conclusion Prompt diagnosis of pericardial angiosarcoma is crucial, as nonspecific symptoms may lead to misdiagnosis, such as in this case where the patient was initially diagnosed with pericarditis. Video-assisted thoracic surgery and histologic analysis are necessary to reach a correct diagnosis, which ensures appropriate treatment, as a delayed diagnosis can worsen the prognosis and even lead to death.