OpenMed/multicare-articles huggingface dataset:
When Two Syndromes Collide: Managing Fanconi and Refeeding Syndrome in a Single Patient
Authors: Francisco J Gallegos Koyner, Nelson Barrera, Prakriti Subedi, Karun Shrestha, Roberto Cerrud-Rodriguez
Journal: Cureus (2024)
Keywords: fanconi, hiv aids, infectious esophagitis, proximal renal tubule, recurrent hypoglycemia, refeeding, tenofovir alafenamide (taf), upper gastro-intestinal bleed
MeSH terms: Case Reports

Refeeding syndrome is the potentially fatal shift in fluids and electrolytes that may occur in malnourished patients after receiving artificial refeeding. Its hallmark feature is hypophosphatemia, although other electrolytes might also be affected. Fanconi syndrome is a generalized dysfunction of the proximal tubule characterized by proximal renal tubular acidosis (RTA), phosphaturia, glycosuria, aminoaciduria, and proteinuria. The etiology of Fanconi syndrome can be either acquired or inherited, and drugs, among them tenofovir, are a common acquired cause of this disease. We present the case of a patient with AIDS and polysubstance abuse who was admitted due to pneumonia, completed treatment, was then started on antiretroviral medication (ART) that included tenofovir alafenamide (TAF) and began presenting severe episodes of hypophosphatemia along with other electrolyte imbalances, leading the workup denoted in the case, severe complications and finally to the patient's demise. Most cases of tenofovir-related Fanconi syndrome are related to tenofovir disoproxil fumarate, but very few cases have been reported with TAF. Our case highlights this rare complication of therapy with TAF and how artificial feeding can contribute to severe electrolyte abnormalities and worsen outcomes.
The Thyroid Swing: A Patient's Journey From Hypothyroidism to Hyperthyroidism
Authors: Haifa Alnahdi
Journal: Cureus (2024)
Keywords: antibodies, graves´disease, hashimoto’s, hyperthyroidism, hypothyroidism, levothyroxine
MeSH terms: Case Reports

The flip from hyperthyroidism (HT), as observed in Graves' disease (GD) cases, to hypothyroidism associated with Hashimoto's disease (HD) has been widely recognized and documented. However, the converse is infrequently observed. The observed phenomenon is likely attributed to the major role played by thyroid-stimulating hormone receptor antibodies (TRAbs) in this alternating disease pattern and a substantial reduction in thyroid tissue mass that could be stimulated by these antibodies. Therefore, here we present a case of one middle-aged individual experiencing this transitional switch from hypothyroidism to GD. A 42-year-old male patient diagnosed with HD-related hypothyroidism for two years has remained stable with levothyroxine medication since diagnosis. However, his symptoms of thyrotoxicosis, such as anxiety, weight loss, and palpitations, had appeared during his follow-up time at the clinic. Physical examination revealed mild exophthalmos, which confirmed HT by thyroid function test results. The possibility of levothyroxine-induced HT was initially considered, although the observed symptoms failed to ameliorate despite the reduction and discontinuation of levothyroxine. The diagnosis of GD was confirmed after subsequent examination, and a follow-up was carried out. This particular case study underscores a distinctive correlation that carries substantial implications for the diagnosis and treatment of GD. The consideration of this shift is warranted in cases where HT continues to exist despite the reduction or cessation of levothyroxine treatment. The diagnosis is established through antibody titers and a radioiodine uptake scan. Treatment choice is based on the illness's stage and the patient's and care provider's preferences. In the initial phase, anti-thyroid medications may be employed. It is imperative to conduct regular follow-ups on these patients due to the potential transient nature of this clinical condition.
Monoclonal gammopathy of renal significance: An atypical presentation of Waldenström's disease
Authors: Pablo Rodríguez-Doyágüez, Motornaya-Morozova, Patricia Martínez-Miguel, Carolina Castillo-Torres, Óscar Toldos-González, Juan José Gil-Fernández
Journal: Clin Nephrol Case Stud (2024)
Keywords: waldenström’s macroglobulinemia, bendamustine, cryoglobulinemia, glomerulonephritis
MeSH terms: Case Reports

Waldenström's disease is a rare lymphoproliferative syndrome in the bone marrow and sometimes in lymphoid organs which secretes high amounts of monoclonal immunoglobulin M into serum. It can remain indolent for years and rarely affects the kidney, with intraglomerular rather than intratubular damage being predominant, in contrast to multiple myeloma. Different studies identified AL amyloidosis as the most frequent renal lesion, followed by cryoglobulinemic glomerulonephritis. Signs and symptoms may be unspecific, as well as renal manifestations, so collaboration between nephrologists, hematologists, and pathologists is crucial to establish the role of paraprotein in the development of renal damage. We present an atypical case of Waldenström's disease that had a minimal monoclonal peak and clinically debuted with nephritic and nephrotic syndromes. The diagnosis was cryoglobulinemic glomerulonephritis. Currently, there are numerous treatment options, without enough evidence yet to establish a standardised treatment.
Bilobed Flap Coverage for the Reconstruction of Dorsal Soft Tissue Defect Over the Proximal Phalanx: A Case Report
Authors: Fang Li, Min Kai Chang, Jinyuan Gan, Chung Ming Chan
Journal: Cureus (2024)
Keywords: bilobed flap, dorsal, finger, hand surgery, orthopedic, plastic surgery
MeSH terms: Case Reports

Soft tissue defects over the dorsal finger are common and may result from trauma, burns, or surgical management of infections and tumors. We present a case where a bilobed flap was used for the reconstruction of a soft tissue defect dorsal to the proximal phalanx of the ring finger and discuss the design of this flap. The defect was secondary to a collar button abscess of the right third webspace and the surgical debridement required to control the infection. The exposed extensor tendon over the proximal phalanx required coverage. The bilobed flap was designed with the first lobe over the right middle finger proximal phalanx and the second lobe over the right second webspace and index finger. The flap healed uneventfully and the patient had good functional recovery. This design for a bilobed flap is suitable for soft tissue reconstruction of defects over the dorsum of the proximal phalanx. It is a simple, reliable, single-staged procedure that provides like-for-like reconstruction and has minimal donor site morbidity.
Case Report: It's not always about the veins; intervention of bilateral May-Thurner Syndrome secondary to iliac aneurysm
Authors: Syed H Haq, Sidra R Shah, Jaya Chandra, Pavithra Kannan, Sandeep M Patel
Journal: Front Cardiovasc Med (2023)
Keywords: dvt, may–thurner syndrome, aneurysm, right common iliac, thrombosis
MeSH terms: Case Reports

May-Thurner Syndrome (MTS) remains evasive because of the insidiousness and variable etiologies by which it can manifest. In this study, we examine a unique presentation of MTS resulting from compression of both common iliac veins by a right common iliac artery aneurysm that required complex endovascular venous and arterial intervention.
Von-Hipple Lindau syndrome with family history: a case report and seventeen years follow-up study
Authors: XueMei Fan, Shuai Wang, Tianwen Chen, Wei Hu, Hui Yang
Journal: Front Oncol (2024)
Keywords: 0531-56006952 2 von-hippel lindau syndrome, 13588427516, vhl gene, exome sequencing, gene mutation, pedigree analysis
MeSH terms: Case Reports

Background:
Von-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were randomly selected for VHL genetic testing as controls. We analyze the clinical and genetic characteristics of VHL syndrome in a Chinese lineage and with 17-year follow-up.
Case presentation:
A woman was finally diagnosed with VHL syndrome due to the detection of a missense mutation c.353T > C in exon 2 of the short arm of chromosome 3, which resulted in a leucine substitution at amino acid 118 of the encoded protein by a proline, which may be thought the main cause of the disease. The same mutation was observed in two other family members, their clinical symptoms are not entirely identical. However, this mutation was not found in other family members or 187 healthy controls. She clinically presented with central nervous system hemangioblastomas, clear renal cell carcinoma, and pancreatic neuroendocrine neoplasms, despite the multi-organ involvement and several relapses during the disease, the patients survive well for she was treated with aggressive surgery early in the course of the plaguing symptoms, whereas patients who are not aggressively treated have a poorer prognosis.
Conclusion:
The clinical presentation of VHL syndrome is atypical, and early identification and treatment of VHL syndrome is possible by genetic testing techniques. Multiple relapses occurred during the course of the disease, but early diagnosis and aggressive treatment allowed the patients to survive well.
Streptomyces albireticuli lung infection managed as a pulmonary air cyst: a case report and literature review
Authors: Jiajiao Liu, Zhaoxia Xu, Yujie Bai, Jian Feng, Lunshan Xu, Fuxiang Li
Journal: Front Cell Infect Microbiol (2024)
Keywords: streptomyces albireticuli, case report, gene sequencing, lung infection, pulmonary air cyst
MeSH terms: Cysts, Lung Diseases, Pneumonia, Streptomyces / genetics, Review, Case Reports, Research Support, Non-U.S. Gov't, Aged, Humans, Lung, Male, Phylogeny, Streptomyces albireticuli

Streptomyces, the largest genus in the Streptomycetaceae family and a prolific producer of antibacterial drugs, is a saprophytic soil organism that rarely causes invasive infections. Here we report a case of necrotic pneumonia caused by Streptomyces albireticuli in a 75-year-old man who presented with progressive chest tightness and dyspnea. Streptomyces albireticuli was isolated from his bronchoalveolar lavage fluid and identified through whole-genome sequencing (WGS) and phylogenetic analysis. The patient responded satisfactorily to clarithromycin therapy. The findings of this study may enhance our vigilance in identifying visceral infections caused by Streptomyces.
A unique case of AH-dominant type nodular pulmonary amyloidosis presenting as a spontaneous pneumothorax: a case report and review of the literature
Authors: Valeria Skopelidou, Pavel Hurník, Lubomír Tulinský, Vladimir Židlík, Jiří Lenz, Patricie Delongová, Helena Hornychová, Patrik Flodr, Tomáš Jelínek, Ludmila Muroňová, Dušan Holub, Petr Džubák, Marián Hajdúch
Journal: Pathol Oncol Res (2023)
Keywords: ah amyloidosis, amyloidoma, amyloidosis, nodular pulmonary amyloidosis, pneumothorax
MeSH terms: Amyloidosis / complications, Amyloidosis / diagnosis, Amyloidosis / pathology, Lung Diseases / complications, Lung Diseases / diagnosis, Lung Diseases / pathology, Pneumothorax / diagnosis, Pneumothorax / etiology, Review, Case Reports, Aged, 80 and over, Humans, Lung / diagnostic imaging, Lung / pathology, Male, Amyloidosis, Primary Cutaneous

Amyloidosis is a rare metabolic disorder primarily brought on by misfolding of an autologous protein, which causes its local or systemic deposition in an aberrant fibrillar form. It is quite rare for pulmonary tissue to be impacted by amyloidosis; of the three forms it can take when involving pulmonary tissue, nodular pulmonary amyloidosis is the most uncommon. Nodular pulmonary amyloidosis rarely induces clinical symptoms, and most often, it is discovered accidentally during an autopsy or via imaging techniques. Only one case of nodular pulmonary amyloidosis, which manifested as a spontaneous pneumothorax, was found in the literature. In terms of more precise subtyping, nodular amyloidosis is typically AL or mixed AL/AH type. No publications on AH-dominant type of nodular amyloidosis were found in the literature. We present a case of an 81 years-old male with nodular pulmonary AH-dominant type amyloidosis who presented with spontaneous pneumothorax. For a deeper understanding of the subject, this study also provides a review of the literature on cases with nodular pulmonary amyloidosis in relation to precise amyloid fibril subtyping. Since it is often a difficult process, accurate amyloid type identification is rarely accomplished. However, this information is very helpful for identifying the underlying disease process (if any) and outlining the subsequent diagnostic and treatment steps. Even so, it is crucial to be aware of this unit and make sure it is taken into consideration when making a differential diagnosis of pulmonary lesions.
SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers
Authors: Monique A M de Jong, Eleonora P M Corssmit, Jeroen C Jansen, Thomas P Potjer, Jean-Pierre L Bayley, Erik F Hensen
Journal: Case Rep Otolaryngol (2024)
MeSH terms: Case Reports

Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign and often multicentric head and neck paragangliomas. Here, we present a patient diagnosed with multiple SDHAF2-linked head and neck paragangliomas who in addition developed paraganglioma metastases to the lung and spine and a primary or metastatic paraganglioma in the head of the pancreas. During the course of the disease, a range of management strategies were deployed for the different head and neck tumors, including total resections, partial resections, and active surveillance. After identification of the paraganglioma metastases, the patient was treated with lanreotide after which the disease remained stable during the 27 months of follow-up.
Postcarotid Endarterectomy Hematoma Induced Arrhythmia: Report of a Rare Case
Authors: George Galyfos, Alexandros Chamzin, Fragiska Sigala, Konstantinos Filis
Journal: Case Rep Vasc Med (2023)
MeSH terms: Case Reports

Postcarotid endarterectomy (CEA) hematomas are common although they are rarely threatening and necessitate reoperation. We aim to report a rare case of an expanding hematoma that caused a cardiac arrhythmia (bigeminy) which was reversed after hematoma evacuation.
Case Report: A rare form of congenital erythrocytosis due to SLC30A10 biallelic variants-differential diagnosis and recommendation for biochemical and genetic screening
Authors: Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie
Journal: Front Pediatr (2024)
Keywords: hmndyt1, slc30a10, congenital erythrocytosis, genetic testing, hypermanganesemia
MeSH terms: Case Reports

Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due to SLC30A10 bi-allelic mutations and characterized by hypermanganesemia, congenital erythrocytosis and neurodegeneration, also known as hypermanganesemia with dystonia 1 (HMNDYT1). The patient was treated with iron supplementation and chelation therapy with CaNa2EDTA, resulting in a significative reduction of blood manganese levels and erythrocytosis indexes. Although it couldn't be excluded that the patient's developmental impairment was part of the phenotypic spectrum of the disease, after three months from starting treatment no characteristic extrapyramidal sign was detectable. Our findings suggest the importance of assessing serum manganese levels in patients with unexplained polycythemia and increased liver enzymes. Moreover, we highlight the importance of extended genetic testing as a powerful diagnostic tool to uncover rare genetic forms of congenital erythrocytosis. In the described patient, identifying the molecular cause of erythrocytosis has proven essential for proper clinical management and access to therapeutic options.
Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis Syndrome on the Basis of Selective IgA Deficiency
Authors: Seda Altiner, Alper Ekinci
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is an autoinflammatory disease that is thought to occur with the contribution of genetic and environmental factors, but its etiology has not been clearly elucidated. It is characterized by recurrent attacks with fever, pharyngitis, oral aphthous lesions, and cervical lymphadenopathy, and an increase in the level of serum acute phase reactants is observed during the attacks. Although PFAPA usually begins in childhood, adult-onset cases are also reported in the literature. In the pathogenesis of PFAPA, an increase in the expression of various inflammatory cytokines, especially interleukin-1β (IL-1β), is observed as a result of the increase in inflammasome activity. Selective IgA deficiency (SIgAD) is the most prevalent primary immunodeficiency. Although most SIgAD cases remain asymptomatic and remain undiagnosed, it is known that the risk of mucosal infection is generally increased in SIgAD cases. In addition, the frequency of autoinflammatory diseases is increased in SIgAD cases compared with the general population. We aim to present a case of adult-onset PFAPA and SIgAD coexistence.
A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder
Authors: Daniel Arbide, Nour Elkhateeb, Ewa Goljan, Carolina Perez Gonzalez, Anna Maw, Soo-Mi Park
Journal: Case Rep Genet (2024)
MeSH terms: Case Reports

Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription through chromatin remodelling and epigenetic silencing. MORC2 may have a role in the development of neurones, and dominant variants in this gene have recently been linked with disorders including Charcot-Marie-Tooth type 2Z disease, spinal muscular atrophy and, more recently, a neurodevelopmental syndrome consisting of developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN), presenting with hypotonia, microcephaly, brain atrophy, intellectual disability, hearing loss, faltering growth, and craniofacial dysmorphism. Notably, variants in MORC2 have shown clinical features overlapping with those of Cockayne and Leigh syndromes. Here, we report a case of MORC2-related DIGFAN syndrome in a female infant caused by a novel heterozygous de novo variant. The condition was early onset and severe, further expanding the range of genotypes associated with this disorder. Clinical features included unilateral hearing loss, developmental delay and regression within the first year of life, microcephaly, severe feeding difficulties, and faltering growth, resulting in death at 13 months of age.
Optic Perineuritis Presenting with Transient Monocular Vision Loss (TMVL): Case Report
Authors: Mohamed M Tawengi, Mohamad Fael, Rizeq F Hourani, Tamader Alyaarabi, Abdelaziz M Tawengi, Gamal Alfitori
Journal: Int Med Case Rep J (2024)
Keywords: optic neuritis, optic perineuritis, transient monocular vision loss
MeSH terms: Case Reports

Optic perineuritis is an inflammatory condition that presents with reduced visual acuity and painful eye movement. The presentation of optic perineuritis is similar of optic neuritis which results in delayed diagnosis and management. Up to this date, we found a single case of optic neuritis that presented with transient monocular vision loss (TMVL). No cases of optic perineuritis were associated with TMVL. Here, we report a case of a 30-year-old woman who presented with recurrent attacks of painless vision loss in her left eye, reaching up to 30 attacks per day. Ophthalmological examination was otherwise unremarkable. Lab investigations were normal. Magnetic resonance imaging was done, which showed left optic nerve sheath enhancement suggestive of left-sided focal optic perineuritis. Patient was managed with 1 mg IV methylprednisolone for 3 days. We report this case to shed light on the importance of accurate and early diagnosis of optic perineuritis presenting with TMVL. Prompt management of optic perineuritis is crucial in reducing morbidity and risk of relapse.
Case report: Management of liver cancer complicated by gastric varices rupture and bleeding: transjugular intrahepatic portosystemic shunt utilizing the mesenteric venous pathway
Authors: Guoliang Sun, Jiangye Wang, Beining Zhang, Ninggang Zheng
Journal: Front Med (Lausanne) (2024)
Keywords: tips, hepatocellular carcinoma, interventional, portal hypertension, portal vein thrombosis
MeSH terms: Case Reports

To avoid recurrent variceal bleeding, transjugular intrahepatic portosystemic shunt (TIPS) in conjunction with variceal embolization is considered to be an effective strategy. However, due to changes in conditions and variations in the patient's state, individuals undergoing TIPS may face challenges and limitations during procedures. The transjugular technique and combined transsplenic portal venous recanalization (PVR) with TIPS were not effective in this case due to a blocked portal vein and a previous splenectomy. With an abdominal incision, we successfully punctured the mesenteric venous system and navigated the occluded segment of the portal vein through the mesenteric approach. TIPS was then performed under balloon guidance. This study aims to explore the management of risks and complications during surgical operations and propose multiple preoperative surgical techniques to improve the success rate of the procedure.
Adrenal Hemorrhage in Patients with Systemic Lupus Erythematosus and Antiphospholipid Syndrome: A Case Report and Literature Review
Authors: Weiwei Jiang, Danrui Chen, Daizhi Yang, Longyi Zeng, Wen Xu, Shuo Lin
Journal: Int J Endocrinol (2023)
MeSH terms: Review

Antiphospholipid syndrome (APS) is an autoimmune disorder while adrenal hemorrhage could be its rare complication. Herein, we report the case of a 32-year-old unmarried woman with a history of systemic lupus erythematosus (SLE) who was hospitalized after complaints of upper abdominal pain, limb weakness, and loss of appetite for 2 weeks. Laboratory examination revealed hyponatremia, low plasma cortisol levels, increased adrenocorticotropic hormone levels, and a positive anticardiolipin antibody status. Furthermore, computed tomography (CT) revealed the presence of bilateral adrenal masses. Ultimately, based on dynamic changes in CT images, these masses were diagnosed as adrenal hemorrhage owing to APS. A computer-assisted literature search was conducted to identify cases of primary adrenal insufficiency associated with APS and/or SLE. The clinical features, laboratory examination, treatments, and outcomes of these cases were summarized. Our findings emphasize the importance of screening for adrenal insufficiency in patients with SLE or APS who present with abdominal complaints, asthenia, and hyponatremia. It is also recommended to test for APS all patients with adrenal hemorrhage.