OpenMed/multicare-articles huggingface dataset:
Case Report: Posterolateral Epidural Supra-C2-Root Approach (PESCA) for Biopsy of a Retro-Odontoid Lesions in Same Sitting After Occipitocervical Fixation and Decompression in a Case of Crowned Dens Syndrome With Brainstem Compression and Displacement
Authors: Patrick Haas, Till-Karsten Hauser, Kosmas Kandilaris, Marco Skardelly, Marcos Tatagiba, Sasan Darius Adib
Journal: Front Surg (2022)
Keywords: pesca, saethre-chotzen-syndrome, crowned dens syndrome, odontoid process, pannus
MeSH terms: Case Reports

Background:
'Crowned dens syndrome' (CDS) is a special form of calcium pyrophosphate dihydrate deposition disease which is characterized radiologically by a halo-like or crown-like distribution in the periodontoid region and clinically by cervical pain. Herein, we will describe our experience of posterolateral epidural supra-C2-root approach (PESCA) for biopsy of retro-odontoid lesions in one surgical session after occipitocervical fixation and decompression in a patient with CDS and massive brainstem compression.
Case presentation:
A 70-year-old woman presented to our department with a 4-week history of progressive walking impairment, neck pain, neck rigidity, fever, dizziness, slight palsy of the left hand, and multiple fall episodes. Magnetic resonance imaging (MRI) of the craniovertebral junction (CVJ) and cervical spine revealed a lesion of the odontoid process and the retro-odontoid region with mainly solid components, as well as small cystic components, and brainstem compression and displacement. In first step, fusion surgery of the CVJ C0-C4 was performed with occiptocervical decompression. After fusion and decompression the lower lateral part of the C1 arc and the lateral superior part of the left side of the C2 arc were removed. The entry point was located directly above the superior part of the C2 root. A biopsy of the lateral portions of the lesions was obtained by bioptic forceps under microscope guidance. Pathologic examination of the mass revealed deposition of birefringent crystals compatible with calcium pyrophosphate. In addition to the clinical symptoms (especially neck pain), the diagnosis of CDS was made. Non-steroidal inflammatory drugs (NSAIDs) and colchicine (and later magnesium) were started. At follow-up examination 6 months after surgery, an MRI scan of the cervical spine revealed regression of the pannus and the cyst with replacement of the brainstem, clinical improvement of walking, and increased strength of the left hand.
Conclusions:
This study demonstrates that PESCA can be used to obtain tissue for pathological analysis in one surgical sitting after fusion and decompression and that fusion, decompression, and PESCA (in the same session) together with subsequent conservative management could be a good alternative for the treatment of CDS.
Noninvasive fungal rhinosinusitis: a case series
Authors: Mohamed Masmoudi, Jihene Chelli, Asma Ben Mabrouk, Ezer Chebil, Wadii Thabet, Mehdi Hasnaoui, Khalifa Mighri
Journal: F1000Res (2021)
Keywords: allergic fungal sinusitis, diagnosis, fungal ball, surgery, treatment
MeSH terms: Antifungal Agents / therapeutic use, Sinusitis / diagnostic imaging, Case Reports, Adrenal Cortex Hormones, Chronic Disease, Humans, Adrenal Cortex Hormones, Antifungal Agents

Introduction: Fungal rhinosinusitis (FRS) remains a rare disease. The noninvasive forms are hard to diagnose. The management protocols remain controversial. We aim to describe the clinical, radiological and pathological features of noninvasive FRS and present our management protocol and follow-up results. Patients and methods: This descriptive study was conducted in the ear-nose-throat department of the university hospital, Taher Sfar in Mahdia, Tunisia. All patients who responded to the definition of noninvasive FRS (fungal balls and allergic fungal sinusitis) were included. The study was conducted over a three year period (May 2017 - April 2021). Results: Eleven patients were included in this study: four cases of fungal balls and seven cases of allergic fungal sinusitis. Patients presented with symptoms of chronic recurrent rhinosinusitis with no response to conventional treatments. Computed tomodensitometry scan showed opacification of the paranasal sinuses in all patients. Other signs were heterogeneous opacities, local calcifications and thinning of the bony walls of the sinuses. Histopathological findings were inflammatory polyps in all cases of allergic FRS with the presence of fungal hyphae in 42.8% of the cases. All patients underwent surgery after a median delay of 12 [6-24] months of the symptom's onset. The used procedures were endoscopic middle meatal antrostomy for all patients, ethmoidectomy (81.8%) and sphenoidotomy (36.4%). None received systemic antifungals or corticosteroids with a favorable outcome in all cases. Conclusion: Symptoms of noninvasive FRS are nonspecific. The scan images contribute to the diagnosis, but the perioperative findings and the histopathological results remain crucial. The management is mainly surgical.
Primary Esophageal Melanoma with Aberrant CD56 Expression: A Potential Diagnostic Pitfall
Authors: Hani Katerji, John M Childs, Laura E Bratton, Christian G Peyre, Aaron R Huber
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Primary esophageal malignant melanoma (MM) is rare and extremely aggressive. For pathologists, it can be challenging to diagnose and differentiate from other poorly differentiated malignant neoplasms in the esophagus. Complicating this fact, MM can have divergent differentiation and express nonmelanocytic immunohistochemical markers including epithelial markers (cytokeratins) and rarely neuroendocrine markers. Lack of awareness of this fact by a pathologist can lead to an erroneous diagnosis and delay treatment for an already aggressive disease. Herein, we report a case of primary esophageal malignant melanoma with aberrant CD56 expression without accompanying synaptophysin or chromogranin expression.
Sudden onset and blinding spontaneous direct carotid-cavernous fistula
Authors: Mohammad-Reza Razeghinejad, Mansooreh Jamshidian Tehrani
Journal: J Ophthalmic Vis Res (2011)
Keywords: blindness, carotid-cavernous sinus fistula, proptosis
MeSH terms: Case Reports

Purpose:
To report a case of spontaneous direct carotid-cavernous fistula causing abrupt loss of vision.
Case report:
A 50-year-old woman with systemic hypertension but no history of ocular disease developed sudden proptosis, frozen eye, subconjunctival hemorrhage and loss of vision in her left eye over 2 hours. Imaging studies revealed a direct carotid-cavernous fistula. Management for high intraocular pressure was promptly initiated and the patient was referred to a neurosurgery service, but she refused any surgical intervention. Ultimately, she accepted to undergo manual carotid artery compression which resulted in significant reduction in the proptosis, but she lost all vision permanently.
Conclusion:
Direct carotid-cavernous fistula can occur spontaneously and should be taken into account in patients with signs suggestive of direct carotid-cavernous sinus fistula even without history of trauma or connective tissue disorder.
Psychosis and silent celiac disease in a down syndrome adolescent: a case report
Authors: Amparo Morant
Journal: Case Rep Pediatr (2011)
MeSH terms: Case Reports

Celiac disease is an autoimmune systemic disorder. It presents gastrointestinal and nongastrointestinal manifestations as well as associated conditions. We report a 16-year-old Down syndrome girl who presented psychosis symptomatology, and she was diagnosed as having silent celiac disease. Olanzapine treatment and gluten-free diet were satisfactory. It is necessary to consider celiac disease in Down syndrome patients with psychiatric symptoms, mainly psychotic symptomatology.
Case report: Resuscitative endovascular balloon occlusion after iatrogenic injury of the common iliac artery during neurosurgical dorsal lumbar microdiscectomy
Authors: Mascha O Fiedler, Dittmar Böckler, Henrik Giese, Erik Popp, Felix C F Schmitt, Markus A Weigand, Philipp Erhart
Journal: Front Med (Lausanne) (2023)
Keywords: reboa, case report, endovascular aortic occlusion, iatrogenic bleeding, lumbar spine surgery

Introduction and importance:
This case report describes resuscitative endovascular balloon occlusion (REBOA) of the aorta in a patient with life-threatening iatrogenic bleeding of the right common iliac artery during elective dorsal lumbar spine surgery. REBOA is an emergency procedure for temporary intra-aortic balloon occlusion being increasingly reported and published since its inauguration in 1954. The interdisciplinary management of hemorrhage and technical notes for a successful REBOA procedure will be presented.
Case presentation:
A 53-year-old female patient was admitted to the neurosurgery clinic suffering from left-sided L5 radiculopathy. During surgery, the anterior longitudinal ligament was perforated and an arterial vessel was lacerated. The patient became hemodynamically unstable demanding prompt supine repositioning and cardiopulmonary resuscitation (CPR). REBOA enabled cardiovascular stabilization after 90 min of CPR and laparotomy with vascular reconstruction and contributed to the survival of the patient without major clinical deficits. The patient was discharged from the ICU after 7 days.
Clinical discussion:
Resuscitative endovascular balloon occlusion of the aorta is an emergency procedure to control life-threatening hemorrhage. REBOA should be available on-scene and applied by well-trained vascular surgery personnel to control vascular complications or extend to emergency laparotomy and thoracotomy with aortic cross-clamping in case of in-hospital non-controllable hemorrhages. In case of ongoing CPR, we recommend surgical groin incision, open puncture of the pulseless common femoral artery, and aortic balloon inflation in REBOA zone I. Hereby, fast access and CPR optimization for heart and brain perfusion are maintained.
Conclusion:
Training for REBOA is the decisive factor to control selected cases of in-house and outpatient massive arterial abdominal bleeding complications.
A Case of an Elderly Woman Who Developed Corneal Perforation in the Clinical Course of Myeloperoxidase Positive Antineutrophil Cytoplasmic Antibody-Associated Vasculitis
Authors: Shuhei Kobayashi, Makoto Harada, Aiko Yamada, Yasuhiro Iesato, Koji Hashimoto, Yuji Kamijo
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Antineutrophil cytoplasmic antibody- (ANCA-) associated vasculitis (AAV) is a systemic vasculitis characterized by ANCA positivity and categorized into three main types: microscopic polyangiitis, granulomatosis with polyangiitis, and eosinophilic granulomatous with polyangiitis. Although AAV leads to systemic organ injury, such as of the lungs, kidneys, nerves, and skin, patients with AAV sometimes develop ocular lesions. Here, we report the case of an elderly woman who had been treated for AAV for seven years. She developed scleritis and relapsed twice, with elevation of serum disease markers such as ANCA titer and C-reactive protein. After the decline of these markers due to treatment with additional medication, her scleritis relapsed again and caused a corneal ulcer, which resulted in perforation without obvious marker elevation. She did not present with any symptoms of organ injury, except for ocular lesions. She was treated with surgery, followed by methylprednisolone and rituximab therapy. Subsequently, her ocular lesions and symptoms improved, and she did not relapse. AAV can cause various ocular manifestations. Although C-reactive protein and ANCA titers are useful markers of disease activity and the relapse of AAV complications, including ocular lesions, these markers do not always increase at the time of worsening ocular lesions. Therefore, it is important for clinicians treating patients with AAV to pay careful attention to serum data and physical findings, including the eyes.
Pulmonary Embolism due to Inferior Vena Cava Compression by a Retroperitoneal Hematoma after Endovascular Repair of a Ruptured Abdominal Aortic Aneurysm
Authors: Kota Shukuzawa, Naoki Toya, Yasutake Momokawa, Soichiro Fukushima, Tadashi Akiba, Takao Ohki
Journal: Case Rep Vasc Med (2017)
MeSH terms: Case Reports

We report a case of a patient with a residual hematoma compressing the inferior vena cava after endovascular aneurysm repair (EVAR), which led to a pulmonary embolism (PE). A 65-year-old man underwent emergent EVAR for a ruptured aortic aneurysm in the right retroperitoneal region. He developed sudden chest pain at midnight of the fifth day after EVAR, and computed tomography demonstrated a massive PE. He subsequently went into cardiopulmonary arrest. This case suggested that abdominal complications due to a residual hematoma, including deep vein thrombosis and PE, should be considered in addition to compartment syndrome.
Laterally Positioned Flap with Subepithelial Connective Tissue Graft Modified One-Stage Procedure for the Treatment of Deep Isolated Gingival Recessions in Mandibular Incisors
Authors: Alvaro Francisco Bosco, Juliano Milanezi de Almeida, Belén Retamal-Valdes, Renata Tavares, Jessica M Latimer, Diego Messina, Matheus Henke, Laura Gantes Rodrigues Dias, Thiago Marchi Martins
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

The laterally positioned flap (LPF) has been proposed as a promising treatment for isolated gingival recessions (GRs) in mandibular incisors. Several modifications have been proposed to reduce the risk of gingival recession (GR) at the donor tooth site. Therefore, the aim of this was to describe a modified one-stage procedure of performing the LPF associated with the subepithelial connective tissue graft (LPF + SCTG) with the modifications for the treatment of deep isolated GR in mandibular incisors. The modified one-stage technique (LPF + SCTG) is unique because it was presented being bilaminar with tunneled connective tissue graft (CTG) in the adjacent tooth and extended to the flap donor site, without a submarginal incision in the adjacent tooth, taking the entire band of the keratinized tissue (KT) into the flap. In addition, 3 clinical cases were described using this surgical technique. Three healthy patients with Cairo RT1 or RT2 GRs on teeth 31 or 41 were treated with the LPF + SCTG technique. Probing depth (PD), clinical attachment level (CAL), complete root coverage (CRC), mean root coverage (MRC), recession depth (RD), and keratinized tissue width (KTW) were assessed at baseline and in the follow-up periods of 18, 24, and 48 months, in the cases 1, 2, and 3, respectively. The LPF + SCTG with the modifications presented is a predictable approach for the treatment of deep isolated RT1 and RT2 GRs in mandibular incisors that are well positioned in the bone envelope with the presence of KTW adjacent to GR and adequate vestibule depth in the donor area of the flap.
Isolated Neurosarcoidosis Presenting as Chronic Progressive Pachymeningitis
Authors: Joshua Abata, Danielle Bazer, Nicholas Koroneos, Olga Syritsyna
Journal: Case Rep Neurol Med (2023)
MeSH terms: Case Reports

Neurologic manifestations of sarcoidosis are rare, and even rarer still are cases of isolated neurosarcoidosis. The clinical presentation of isolated neurosarcoidosis can be highly variable, and diagnosis is particularly challenging, the gold standard being tissue biopsy. We describe a patient with a history of atypical parkinsonian syndrome and chronic right frontal lobe infarct who developed weakness, imbalance, and gait disequilibrium in 2008, with magnetic resonance imaging at that time showing leptomeningeal and nodular enhancements in the bilateral frontal and parietal lobes. The patient had an extensive negative workup in 2010 but ultimately did not receive a definitive diagnosis with a tissue biopsy until 2020. The patient also notably failed a 3-month course of steroids after his biopsy due to a lack of symptomatic improvement. This case highlights the clinical variability and diagnostic difficulties of isolated neurosarcoidosis. We also highlight that our patient did not have any symptomatic improvement on steroids, which do typically provide some relief for patients.
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
Authors: Noel J Aherne, Guhan Rangaswamy, Pierre Thirion
Journal: Case Rep Urol (2013)

Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome.
X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report
Authors: Alena S Telepova, Svetlana A Romanenko, Natalya A Lemskaya, Yulia V Maksimova, Asia R Shorina, Dmitry V Yudkin
Journal: Mol Cytogenet (2017)
Keywords: dandy-walker syndrome, marker chromosome, turner syndrome, x-chromosome
MeSH terms: Case Reports

Background:
Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.
Case presentation:
Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome.
Conclusion:
Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome.
Trial registration:
CPG137. Registered 03 March 2017.
Surgical Intervention for Pectoralis Major Muscle Rupture: Report of Acute and Chronic Cases
Authors: Erica Kholinne, Cheong-Su Lim, Julius I Kho, In-Ho Jeon
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Pectoralis major muscle rupture is becoming more frequent due to the current trends toward high-contact sports. We reported 2 cases with acute and chronic injury settings along with the strategy to treat each of it.
Prenatal diagnosis of Bardet Biedl Syndrome: A case report
Authors: Ena Arora, Aleksandr Fuks, Jessica Meyer, Judith Chervenak
Journal: Radiol Case Rep (2022)
Keywords: autosomal recessive, bardet biedl, ciliopathy, obstructive uropathy
MeSH terms: Case Reports

The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood. Prenatal diagnosis is rare in absence of family history or consanguinity. The major features of this syndrome are cone-rod dystrophy, obesity, polydactyly, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay and ataxia. At least 20 BBS genes have been identified and all are involved in primary cilia functioning. Genetic diagnosis includes multigene sequencing technologies. Clinical management includes symptomatic treatment. In our case report, we present a case of a baby born to parents of Bengali Asian ancestry with high clinical suspicion of BBS based on fetal magnetic resonance imaging findings done during antepartum surveillance.
Term Abdominal Pregnancy Revealed by Amnioperitoneum in Rural Area
Authors: Henri Donald Mutarambirwa, Bruno Kenfack, Jovanny Tsuala Fouogue
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Abdominal pregnancy (AP) accounts for 1% of ectopic implantations. In sub-Saharan Africa, the high prevalence of sexually transmitted infections explains the increasing frequency of this pathology. In Cameroon it rose from 1/10000 deliveries (1995) to 3.3/10000 (2015). Authors herein report a case of a viable abdominal pregnancy discovered at term during emergency laparotomy for suspected uterine rupture. The 24-year-old G2P0 patient was HIV-positive, under antiretrovirals, though AP exceptionally occurs in HIV patients. She did only two antenatal consultations: her main complaint was abdominal pain but five echographies concluded to normal intrauterine pregnancy. Findings at laparotomy were as follows: amnioperitoneum, a live female baby weighing 3.4 kilogrammes without deformities and a placenta deeply inserted on the uterine fundus. Removal of the placenta triggered massive bleeding (2400 milliliters) with shock managed with a tourniquet on the lower uterine segment and fluid resuscitation. Outcome was favourable for the mother and child. Prevention of vertical transmission of HIV was successful with antiretroviral therapy.
Malignant Hypertensive Retinopathy in an Infant with Mid-Aortic Occlusion
Authors: Lawrence J Oh, Gaurav Bhardwaj, David S Winlaw, Craig E Donaldson
Journal: Case Rep Ophthalmol Med (2016)

Purpose. Case report describing an eight-month-old infant presenting with intermittent esotropia and irritability who was found to have malignant (grade 4) hypertensive retinopathy and mid-aortic syndrome. Methods. Visual acuity was 6/140 in the right eye and not recordable in the left eye. Blood pressure was as high as 230/120 mmHg. Fundoscopy revealed bilateral optic disc swelling, macular stars, and serous retinal detachment in the left eye, findings that are consistent with malignant (grade 4) hypertensive retinopathy. CT abdominal angiogram revealed a severe mid-aortic syndrome with occlusion of the abdominal aorta at T12. Results. The patient was treated with medical management of his hypertension, improving the subretinal exudate. Binocular visual acuity improved to 6/9.5 over 9 months. There was a persistent left relative afferent pupillary defect and moderate left esotropia. Conclusion. This is the first reported case of malignant hypertensive retinopathy in an infant with concomitant mid-aortic occlusion. The authors emphasize the need for an ophthalmological and pediatric examination in a child presenting with intermittent squint and irritability. The esotropia was found to be a false localizing sign of raised intracranial pressure secondary to the severe mid-aortic syndrome.
Reconstruction of Total Bone Defects following Resection of Malignant Tumors of the Upper Extremity with 3D Printed Prostheses: Presentation of Two Patients with a Follow-Up of Three Years
Authors: Thomas Ackmann, Sebastian Klingebiel, Georg Gosheger, Anna Rachbauer, Christoph Theil, Dimosthenis Andreou
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Wide tumor resection is the local treatment of choice for patients with primary malignant bone tumors and a prerequisite for long-term survival. We present two patients that underwent total bone resection in the upper limb because of primary malignant bone tumors. The defects were then reconstructed by a 3D printed prosthesis, a procedure that, to our knowledge, has not been reported for bone defects of the upper extremity so far. Complete resection of the affected bone was required in a five-year-old girl with a high-grade osteoblastic osteosarcoma of the humerus and a 53-year-old man with a dedifferentiated leiomyosarcoma of the radius, due to the tumor's extent. Following neoadjuvant chemotherapy, resection of the entire affected humerus including the axillary nerve took place in the first case and the entire affected radius including parts of the radial nerve in the second case. Approximately three years after surgery, both patients are alive and pain-free. Despite a postoperative drop hand that affected the now 56-year-old man, he is able to carry out everyday activities such as brushing his teeth, writing, and eating. The now eight-year-old girl is also able to engage in normal activities with her left arm such as eating and carrying lightweight objects. Both patients are tumor-free to date.