OpenMed/multicare-articles huggingface dataset:
A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping
Authors: Souha Elabd, Ohoud Almohareb, Dania AlJaroudi, Ali Al Zahrani, Imad Brema
Journal: Cureus (2024)
Keywords: 17α-hydroxylase deficiency, congenital adrenal hyperplasia, delayed puberty, hypertension, hypokalemia, primary amenorrhea
MeSH terms: Case Reports

Congenital adrenal hyperplasia (CAH) consists of variable disorders of sex determination and differentiation. 17α-hydroxylase deficiency (17OHD) is an uncommon form of those disorders, which is typically characterized by hypertension, hypokalemia, failure of puberty, and ambiguous genitalia. The 17α-hydroxylase enzyme is encoded by the CYP17A1 gene and it is required for the synthesis of cortisol and sex steroids. The affected females with 17OHD usually present with primary amenorrhea and delayed puberty, which are associated with hypertension and hypokalemia while male patients might show female external genitalia, pseudohermaphroditism, or variable degrees of ambiguous genitalia with intra-abdominal testes in addition to hypertension and hypokalemia as well. We present two Saudi siblings (19 and 16 years old) who were diagnosed with the rare CAH subtype of 17OHD after presenting with long-standing hypertension, refractory hypokalemia, and failure of puberty. It is interesting that both siblings had biochemical primary adrenal insufficiency; however, both patients did not clinically present with an acute adrenal crisis, which is likely due to the effect of increased levels of deoxycorticosterone. Additionally, although both patients have similar phenotypes and clinical presentations, they have different karyotypes. This again highlights the variability of the manifestations that can result from 17OHD even with an identical mutation in the same family. Both patients were treated successfully with dexamethasone, which has led to the normalization of hypertension, resolution of hypokalemia, and discontinuation of anti-hypertensive medications and potassium supplements after several years of treatment. However, the entire management is quite challenging and requires a multidisciplinary approach regarding difficult issues such as gender identity and assignment and fertility issues in addition to a life-long follow-up.
Growing Renal Vein Aneurysm Treated by Endovascular Repair: A Case Report and Literature Review
Authors: Hisao Nagato, Makoto Wakamiya, Kiyosumi Maeda, Kazuhiko Doi, Hiromasa Kira, Koji Ueyama
Journal: Ann Vasc Dis (2023)
Keywords: endovascular repair, renal vein aneurysm, vascular plug
MeSH terms: Case Reports

Renal vein aneurysm (RVA) is extremely rare and often asymptomatic, disclosed only incidentally on diagnostic imaging modalities such as computed tomography and ultrasonography. Management is often just watchful follow-up, but some patients require intervention. We present the case of a 74-year-old man complaining of lower back pain in whom a 53-mm RVA was identified. He underwent successful endovascular repair using Amplatzer vascular plugs. The aneurysm had completely resolved by 12 months. Endovascular treatment of a primary RVA does not seem to have been reported previously. This is a milestone case in the management of RVA.
Case report: Double adjacent ventral slot in two medium-sized breed dogs
Authors: Razvan Grigore Cojocaru, Bogdan Sicoe, Cristina Gaspar, Alexandra Grigoreanu, Gabriel Orghici, Ioan Tibru, Radu Lacatus
Journal: Front Vet Sci (2024)
Keywords: ivde, cervical disk disease, double adjacent ventral slot, medium-sized dogs, tetraplegia
MeSH terms: Case Reports

Two medium-sized, 7-year-old dogs, with no previous history of pain, presented with acute neurologic symptoms consistent with intervertebral disk disease. Both cases had CT, where cervical pathology was identified. In one dog, the diagnosis was singular extensive cervical disk herniation with possible epidural hemorrhage and in the other, the diagnosis was multiple-site cervical disk herniation. The first dog, a Shar-Pei, underwent treatment with two standard adjacent ventral slots between the C4-C5 and C5-C6 intervertebral disk spaces and a fenestration between the C3 and C4 intervertebral disk spaces. The second case, a beagle, underwent a double adjacent standard ventral slot between the C5-C6 and C6-C7 intervertebral disk spaces. Both dogs recovered uneventfully after the surgery and showed no signs of recurrence during a 2-year follow-up period. This is the first detailed report of the use of a double adjacent ventral slot as a treatment for spinal decompression in medium-sized dogs with multiple-site spinal cord compression.
Dravet Syndrome: A Rare Form of Epilepsy
Authors: Salwa Al Hosani, Sona Varghese
Journal: Case Rep Med (2024)
MeSH terms: Case Reports

Dravet syndrome is a rare and severe form of epilepsy that usually emerges in infancy. It is characterized by diverse seizure patterns, cognitive regression, motor impairments, and behavioral abnormalities. The majority of patients with this condition have mutations involving the voltage-gated sodium channel alpha (I) gene SCN1A. We present a detailed account of a two-year-old child with a history of recurrent seizures since the age of 4 months. Genetic testing was performed which revealed a heterozygous pathogenic variant, confirming the diagnosis. The patient was managed successfully by a multidisciplinary approach involving neurologists, developmental specialists, and physical therapists.
An Unusual Presentation of Renal Failure: A Case of Myeloperoxidase-Antineutrophil Cytoplasmic Antibody (MPO-ANCA) Vasculitis
Authors: Manasa Srinivasa Murthy, Dhanush Hoskere, Harish Veerapalli, Eiton Arroyo Rodriguez
Journal: Cureus (2024)
Keywords: chronic kidney disease, chronic kidney disease (ckd), mpo-anca, mpo-anca vasculitis, rapidly progressive renal failure, small vessel vasculitis
MeSH terms: Case Reports

Myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) vasculitis manifests as a neutrophilic inflammation impacting small vessels across multiple organs, notably the lungs, kidneys, and skin. We present a unique case of MPO-ANCA vasculitis in a 77-year-old female characterized by glomerulosclerosis, rapidly progressive renal failure necessitating hemodialysis (HD), bullous skin lesions, and hypoxic respiratory failure. The patient, who had a history of type 2 diabetes, presented with progressive dyspnea, hypoxia, and acute kidney injury superimposed on chronic kidney disease (CKD) progressing to renal failure requiring dialysis. A renal biopsy highlighted globally sclerosed glomeruli, interstitial fibrosis, and tubular atrophy, along with increased immunoglobulin M (IgM) deposits on immunofluorescence, differing from typical findings. Prompt initiation of prednisone led to respiratory and cutaneous improvement; however, despite therapy, extensive renal damage led to the permanent requirement of dialysis. MPO vasculitis primarily targets small vessels, frequently affecting kidneys, with only a subset of patients progressing rapidly to end-stage renal failure necessitating HD, as observed in our case. Contrary to classical histopathological patterns, our patient exhibited augmented IgM deposits. Left untreated, MPO vasculitis with renal involvement poses a mortality risk of up to 90%, underscoring the significance of prompt detection and corticosteroid intervention to avert renal failure and improve patient outcomes. Early recognition and timely treatment are pivotal in mitigating the dire consequences of this condition, emphasizing the importance of considering MPO vasculitis in patients with rapidly deteriorating renal function.
A case report of recurrent testicular germ cell tumor in a patient with a history of primary pulmonary germ cell tumor and a review of the literature
Authors: Jian Tan, Jinfeng Wu, Runqiang Yuan, Wei Li, Linfeng Li, Hongxing Huang, Yangbai Lu
Journal: Front Oncol (2024)
Keywords: case report, extra-gonadal germ cell tumors, germ cell tumors, non-seminoma germ cell tumor, primary pulmonary germ cell tumor
MeSH terms: Case Reports

Background:
Compared to testicular germ cell tumors, the incidence of extragonadal germ cell tumors (EGCTs) is relatively low. While the lungs are a common site for metastasis of malignant germ cell tumors, primary pulmonary germ cell tumors are extremely rare.
Objective:
To enhance the understanding of the diagnosis and treatment of germ cell tumors, particularly extragonadal germ cell tumors (EGCTs).
Methods:
A Case Report of Recurrent Testicular Germ Cell Tumor in a Patient with Primary Pulmonary Germ Cell Tumor and a Review of the Literature.
Clinical data:
The patient was initially diagnosed with primary pulmonary germ cell tumor and received standard treatment. Five years later, the patient developed a recurrent testicular germ cell tumor. The pathological results from the two surgeries were different, indicating embryonal carcinoma in the first instance and seminoma in the second.
Conclusion:
For cases with a high suspicion of extragonadal germ cell tumors (EGCTs), early pathological biopsy is essential to confirm the histological subtype and to guide the selection of the most appropriate and sensitive treatment regimen.
Severe Sepsis Secondary to Toxic Megacolon Revealing an Inflammatory Bowel Disease
Authors: Omar Mhammedi Alaoui, Badie Douqchi, Islam Bella, Imane Ghazi, Ilias Benaini, Ilias El Kadiri Boutchich, Ilyass Laaribi, Ghizlane El Aidouni, Houssam Bkiyar, Mohammed Bouziane, Brahim Housni
Journal: Cureus (2024)
Keywords: inflammatory bowel disease, intensive care unit, sepsis, septic shock, toxic megacolon
MeSH terms: Case Reports

Patients with inflammatory bowel disease can present with numerous infectious complications, including intra-abdominal abscess, perforations of the intestine, fistula formation, and the occurrence of septicemia. Toxic megacolon (TM) is a potentially fatal complication of inflammatory bowel disease (IBD) and is associated with high morbidity and mortality. In this case report, we report a 49-year-old male patient who was admitted to the intensive care unit for the management of severe sepsis that was secondary to an inaugural toxic megacolon complicating a silent inflammatory bowel disease, with a Lichtiger score of 11. Nonresponse to anti-bacterial therapy, noradrenaline, and intravenous corticosteroid therapy required an emergency total colectomy. After surgery, the patient died because of his unresolved septic shock. Correct management of this condition requires an accurate assessment of the patient's history, a correct physical examination, abdominal radiographs, and sigmoid coloscopy, and frequently requires surgery. The indications for surgery in cases of toxic megacolon, massive hemorrhage, perforation, peritonitis, or non-response to medical therapy are the most important ones. Patients with a history of inflammatory bowel disease are particularly prone to infectious complications since therapy for these inflammatory diseases is based on the use of immunosuppressive drugs and frequent abdominal surgeries.
The use of a minimally invasive integrated endoscopic system to perform hemilaminectomies in chondrodystrophic dogs with thoracolumbar intervertebral disc extrusions
Authors: Brittany MacQuiddy, Lisa Bartner, Angela Marolf, Sangeeta Rao, Emily Dupont, Taylor Adams, Eric Monnet
Journal: Front Vet Sci (2024)
Keywords: chondrodystrophic, dog, endoscopic hemilaminectomy, intervertebral disc extrusion, minimally invasive spinal surgery

Introduction:
The objective was to evaluate the use of a minimally invasive surgical (MIS) approach to perform hemilaminectomies in chondrodystrophic dogs with thoracolumbar intervertebral disc extrusions (IVDE). Additionally, we aimed to evaluate the degree of soft tissue trauma using the endoscopic procedure compared to the standard open approach.
Methods:
Eight client-owned dogs presented to the Colorado State University Veterinary Teaching Hospital with acute onset thoracolumbar IVDE were included in this study. This was a prospective, randomized case-series. Patients were assigned to undergo an endoscopic (group 1; n = 4) or a standard open approach (group 2; n = 4) for a hemilaminectomy. A post-operative MRI was performed in all cases.
Results:
Conversion to an open approach was not necessary for any case in group 1. All cases had adequate spinal cord decompression on post-operative MRI. There was no significant difference in soft tissue changes noted on post-operative MRI between the two groups.
Discussion:
The MIS approach to hemilaminectomies in chondrodystrophic dogs with thoracolumbar IVDE can successfully be performed to decompress the neural tissue and appears to lead to similar clinical outcomes in the early postoperative period compared to the standard open approach. Larger studies are needed to determine the potential advantages of the MIS technique compared to the standard open approach in veterinary medicine.
Case report: XMEN disease: a patient with recurrent Hodgkin lymphoma and immune thrombocytopenia
Authors: Pieter F de Groot, Arjan J Kwakernaak, Ester M M van Leeuwen, Rosalina M L van Spaendonk, Evert-Jan Kooi, Daphne de Jong, Taco W Kuijpers, Josée M Zijlstra, Godelieve J de Bree
Journal: Front Med (Lausanne) (2023)
Keywords: classical hodgkin lymphoma (chl), xmen disease, hematopoietic stem cell transplantation, immune thrombocytopenia (itp), inborn error of immunity
MeSH terms: Case Reports

Here we present the case of a 28-year-old man with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. He presented with immune thrombocytopenia within 1 year after successful autologous hematopoietic stem cell transplantation for recurrent EBV-associated classical Hodgkin lymphoma (CHL). The combination of EBV- associated malignancy, autoimmunity, recurrent airway infections at young age and bronchiectasis, prompted immunological investigation for an inborn error of immunity (IEI). Genetic testing revealed XMEN disease. XMEN disease is characterized by a glycosylation defect due to mutations in the MAGT1 gene. Germline mutations in the MAGT1 gene disrupt glycosylation of the NKG2D receptor in immune cells, including natural killer and CD8-positive T cells, vital for immune surveillance, especially against EBV. Consequently, individuals with XMEN disease, are prone to EBV-associated lymphoproliferative disorders in addition to auto-immunity. Early recognition of adult onset IEI-related B-lymphoproliferative disorders, including CHL is of vital importance for treatment decisions, including (allogeneic) haematopoietic stem cell transplantation and family screening.
Case Report: Pediatric alloplastic nose reconstruction with a 3D printed patient specific titanium implant
Authors: Matthias Ureel, Daniel Dadjam, Nicolas Dhooghe, Maarten De Jong, Renaat Coopman
Journal: Front Surg (2024)
Keywords: dog bite, nose reconstruction, patient specific implant, pediatric, prosthesis
MeSH terms: Case Reports

An 11-year-old girl presented at the emergency service with a nasal defect caused by a dog bite in the midface. Autologous nose reconstruction in the pediatric population is challenging due to donor site morbidity and remaining facial growth. Temporary prosthetic treatment is difficult to accept due to problems with retention. We present an innovative solution using a 3D printed patient specific titanium implant for support of a nasal prosthesis. With preoperative 3-dimensional planning, the implant can be designed to find fixation in the areas with the best bone quality, avoid potential damage to tooth buds and dental roots and avoid interference to soft tissues such as the nasal septum. Clear communication between the anaplastologist, surgeon and medical engineer is crucial for treatment success. The impact of facial growth is still unclear and will have to be assessed.
Microsurgery for brain aneurysms in an accessory A2 and basilar arteries: a rare case presentation and surgical video
Authors: Jhon E Bocanegra-Becerra, José Luis Acha Sánchez, Luis Contreras Montenegro
Journal: J Surg Case Rep (2024)
Keywords: accessory a2 artery, basilar artery, brain aneurysm, median artery of the corpus callosum, microsurgery, surgical video
MeSH terms: Case Reports

We present the case of a 58-year-old male with a 3-day history of sudden onset headache, loss of consciousness, and uncontrolled vomiting. The patient had 3/5 quadriparesis and a Glasgow coma scale (GCS) score of 8, which merited neurocritical intensive care. Brain imaging suggested the presence of two lesions: (i) a fusiform aneurysm of 12 × 7 mm in an accessory A2 artery of the anterior cerebral artery and (ii) an unruptured saccular aneurysm of 3.3 × 2.8 mm in the distal segment of the basilar artery. He was deemed a candidate for microsurgical management. Postoperatively, he had 4/5 quadriparesis, paresis of the right oculomotor nerve, and a GCS score of 13. A 3-month follow-up showed a significant improvement in neurological function with a score of 2 on the modified Rankin scale. The presented case illustrates the relevance of a nuanced acquaintance to operate in diseased anatomical variants and complex pathologies of narrow corridors.
Case Report: Traumatic cardiac arrest due to pericardial tamponade: successful pericardiocentesis with a Shaldon catheter
Authors: Maximilian Schilling, Alexandre Serra, Christian Skrabal, Harald Ehrhardt, Bettina Jungwirth, Sebastian Schmid
Journal: Front Pediatr (2024)
Keywords: pocus, shaldon adult catheter, emergency ultrasonography, penetrating trauma, pericardial drainage, pericardiocentesis, sanguineous pericardial tamponade, traumatic cardiac arrest
MeSH terms: Case Reports

In this report, we describe the successful resuscitation of a 4-year-old child who suffered a traumatic cardiac arrest during a routine procedure in the operating room. The diagnosis of a sanguineous pericardial tamponade was made by emergency ultrasonography. Consecutive subxiphoid pericardiocentesis with an adult Shaldon catheter led to return of spontaneous circulation. Subsequent thoracotomy and surgical suturing definitively stopped the bleeding from the right ventricle. The combined expertise of all perioperative disciplines was decisive for the patient's survival.
Colitis as the Initial Presentation of Eosinophilic Granulomatosis with Polyangiitis
Authors: Sharika Gopakumar Menon, Steven Hugenberg, Ahmad M Alkashash, Jingmei Lin, Arya M Iranmanesh
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

A male patient in his early sixties with recurrent diarrhea was transferred to our hospital. The patient did not have any pulmonary or upper respiratory symptoms. He was noted to have peripheral eosinophilia. Further workup revealed a negative antineutrophilic cytoplasmic antibody titer but a positive myeloperoxidase antibody and positive proteinase 3 antibodies. A colon biopsy also revealed eosinophilic-rich granulomas in the mucosa, confirming a diagnosis of eosinophilic granulomatosis with polyangiitis. On cardiac imaging, eosinophilic myocarditis was also discovered. To treat active severe EGPA, the patient received high-dose corticosteroids and intravenous cyclophosphamide. The occurrence of gastrointestinal involvement as an initial manifestation of eosinophilic granulomatosis with polyangiitis is infrequent, emphasizing the significance of its recognition. This case underscores the importance of identifying and diagnosing such atypical presentations to facilitate timely and appropriate management.
18F-FDG PET/CT imaging of IgG4-producing MALT lymphoma with multiple site involvement
Authors: Kodai Kawaji, Seiji Kurata, Katsuhisa Matsuo, Hiroaki Miyoshi, Jun Akiba, Fumihiko Mouri, Akiko Sumi, Kiminori Fujimoto, Toshi Abe
Journal: Asia Ocean J Nucl Med Biol (2024)
Keywords: 18f-fdg pet/ct, igg4-producing malt lymphoma, igg4-related disease, multiple 18f-fdg uptake plasmacytic differentiation
MeSH terms: Case Reports

18F-FDG PET/CT is regarded as a modality utilized for the purpose of lesion localization, staging and assessment of treatment response in patients with lymphoma. However, it is difficult that we diagnose among multifocal lymphoma, IgG4-related disease (IgG4-RD), or a combination of both conditions when confronted with multiple sites of 18F-FDG uptake with heightened serum IgG4 levels. We present a case of a 72-year-old male who was suspected of Sjögren's syndrome based on symptoms of xerostomia accompanied by swelling of the bilateral upper eyelid and salivary glands. Following a diagnostic biopsy that revealed mucosa-associated lymphoid tissue (MALT) lymphoma as a possible finding, 18F-FDG PET/CT was conducted, which demonstrated multiple sites of 18F-FDG accumulation. While multifocal MALT lymphoma was initially suspected, the coexistence of IgG4-RD could not be definitively ruled out due to the elevated serum IgG4 levels. Subsequent histopathological and immunohistochemical examinations confirmed the diagnosis of IgG4-producing MALT lymphoma. After receiving systemic therapy with rituximab, the swelling of the bilateral upper eyelid and parotid glands resolved upon visual examination, and the serum IgG4 levels returned to within the normal range in a few months. No new lesions were detected during the subsequent follow-up examinations conducted over a period of 3 years.
Case Report: Tuberculous abscess of the popliteal fossa: A case report
Authors: Hedi Belhassen, Mohamed Ali Khlif, Mohamed Achref Ferjani, Yosri Abcha, Maher Barsaoui
Journal: F1000Res (2023)
Keywords: tuberculosis, abscess, diagnosis, knee, therapeutic
MeSH terms: Abscess / diagnosis, Abscess / microbiology, Abscess / pathology, Case Reports, Adolescent, Antitubercular Agents / therapeutic use, Humans, Magnetic Resonance Imaging, Male, Tuberculosis / diagnosis, Tuberculosis / diagnostic imaging, Tuberculosis / drug therapy, Tuberculosis / microbiology, Antitubercular Agents

Introduction Tuberculosis of the soft tissues is a rare form of extra pulmonary tuberculosis, and isolated localization in the popliteal fossa is particularly exceptional. Atypical clinical presentation can lead to delayed diagnosis and serious complications. Case report We report the case of a 17-year-old patient who was diagnosed with tuberculosis of the popliteal fossa. He presented with a painful inflammatory swelling of the right popliteal fossa associated with a homolateral inguinal lymph node, without knee joint effusion. Standard chest and knee X-rays were normal, while MRI showed an 8 cm well vascularized, partly liquefied mass in the popliteal fossa, developed in contact with the semimembranosus and medial gastrocnemius muscles, associated with a popliteal lymph node without synovial effusion or thickening. Microbiological tests did not isolate any germs. The diagnosis was made on histological examination after biopsy, which revealed a caseous granuloma surrounded by epithelioid cells. The patient was treated with anti-tuberculosis therapy for 9 months. The clinical and radiological regression of the swelling was observed without recurrence at 2 years of follow-up. Conclusion Any soft tissue abscess should raise suspicion of tuberculosis, especially in endemic countries. The importance of histopathological examination should be emphasized to establish the diagnosis in the absence of signs in favor of a primary localization.