OpenMed/multicare-articles huggingface dataset:
Periorbital Emphysema Due to Traumatic Pneumothorax
Authors: José Pedro Manata, Mariana Moniz Ramos, Tetiana Baiherych, Martim Alçada, João Matos Costa
Journal: Cureus (2024)
Keywords: allergic reaction, crepitation, facial trauma, non-steroid anti-inflammatory drugs, periorbital edema, periorbital emphysema, pneumothorax, subcutaneous emphysema
MeSH terms: Case Reports

Periorbital emphysema is rare and associated with facial trauma. Its main distinguishing feature is crepitation on palpation of the edema. It resolves spontaneously in a few days, but there are cases of orbital compartment syndrome that can lead to loss of vision. Here we present the case of a 55-year-old male who came to the emergency department for bilateral periorbital edema associated with non-steroidal anti-inflammatory drug (NSAID) usage, for pain following a fall from a ladder. He was treated with antihistamines and corticosteroids, for presumed allergic reaction, but without response, and subsequently developed acute onset dyspnea. Chest x-ray revealed a left pneumothorax in the context of chest trauma. Chest CT scan after drain placement shows extensive subcutaneous emphysema. In the differential diagnosis of periorbital edema, in addition to allergic, inflammatory, and systemic causes, the traumatic ones should not be excluded.
Progressive supranuclear palsy phenotype as an atypical clinical presentation of Creutzfeldt-Jakob disease: A case report and review of the literature
Authors: Matteo Costanzo, Flavia Aiello, Anna Poleggi, Pietro Li Voti, Giovanni Fabbrini, Daniele Belvisi
Journal: Clin Park Relat Disord (2024)
Keywords: atypical presentation, creutzfeldt-jakob disease, progressive supranuclear palsy
MeSH terms: Case Reports

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder, characterized by the accumulation of abnormal prion proteins in the brain. While CJD has some typical clinical features, its presentation can be quite heterogeneous, particularly in the early stages of the disease, posing challenges in diagnosis. Atypical manifestations of CJD can mimic various neurodegenerative disorders, including atypical parkinsonisms. In this case report, we present an 81-year-old man who exhibited an atypical clinical presentation of sporadic CJD, initially resembling progressive supranuclear palsy (PSP). The patient presented with symmetric parkinsonism, postural instability, and ocular motor dysfunction, accompanied by rapid clinical deterioration. Alongside the case report, we also provide a review of the literature on atypical presentations of CJD as PSP, highlighting the importance of recognizing these manifestations in clinical practice.
Case report: Multidrug resistant gestational trophoblastic neoplasia: focus on failure of immunotherapy and success of high-dose chemotherapy
Authors: Anne Enuset, Lionel Duck, Claudia Petre, Jean-Pascal Machiels, Frédéric Goffin
Journal: Front Oncol (2024)
Keywords: chemotherapy intensification, gestational trophoblastic neoplasia, gynaecological neoplasia, high-dose chemotherapy (hdt), immunotherapy
MeSH terms: Case Reports

Gestational trophoblastic neoplasia (GTN) is extremely rare, but has a very good prognosis, with a cure rate close to 100%, for low-risk diseases. This article describes the case of a healthy 28-year-old nulliparous patient with GTN resistant to multiple lines of treatment. The era of immunotherapy is revolutionizing oncology, having already proved its worth in the treatment of many cancers. This article will have a specific focus on the emerging role of immunotherapy in the treatment of GTN. Unfortunately, the use of an immune checkpoint inhibitor (ICI) failed in our case, emphasizing on the necessity to clearly define the future role of immune therapy in GTN. Finally, given the rapid progression of the disease after hysterectomy, induction with Paclitaxel- Ifosfamide and then intensification with high-dose Carboplatin and Etoposide with peripheral blood stem cell support was given as a rescue therapy with still curative intent.
Use of liposomal amphotericin B in disseminated cutaneous leishmaniasis caused by Leishmania braziliensis in a pediatric patient with Down syndrome
Authors: Aidé Sandoval-Juárez, Nyshon Rojas-Palomino, Lenka Kolevic Roca, Graciela Pilares-Barco, Jorge Cuadros-Castro, Roger Araujo-Castillo
Journal: Rev Peru Med Exp Salud Publica (2023)
MeSH terms: Antiprotozoal Agents / therapeutic use, Down Syndrome / complications, Down Syndrome / drug therapy, Leishmania braziliensis, Leishmaniasis, Cutaneous / diagnosis, Leishmaniasis, Cutaneous / drug therapy, Leishmaniasis, Cutaneous / pathology, Case Reports, Amphotericin B / therapeutic use, Child, Humans, liposomal amphotericin B, Amphotericin B, Antiprotozoal Agents

We present a case of disseminated cutaneous leishmaniasis with extensive manifestation in a pediatric patient with Down syndrome. The case was confirmed by parasitological and immunological tests. The species was identified as Leishmania (Viannia) braziliensis by polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP). The immune deficit that occurs as part of Down syndrome may have been the reason for the aggressive and prolonged clinical manifestations as well as the poor response to stibogluconate and deoxycholate amphotericin. The patient was treated with liposomal amphotericin B and at the end of therapy, showed clinical improvement of the lesions. This report highlights the challenges of the diagnosis and treatment of cutaneous leishmaniasis in immunosuppressed pediatric patients, especially under difficult social, economic and geographic conditions. Leishmaniasis should be considered as a differential diagnosis when treating atypical chronic dermatologic ulcers; the use of liposomal amphotericin in immunocompromised patients should also be considered in these cases.
Case Report: Labor induced coccydynia associated with Modic I changes successfully treated with platelet-rich plasma
Authors: Miloš Vuković, Igor Nosek, Jelena Vuković, Đorđe Ilić, Duško Kozić, Jasmina Boban
Journal: Front Immunol (2023)
Keywords: coccyx, edema, inflammation, pain, vertebral endplates
MeSH terms: Back Pain, Platelet-Rich Plasma, Case Reports, Edema, Female, Humans, Labor, Induced, Magnetic Resonance Imaging, Pregnancy

Imaging can aid in determining potential causes of coccygeal pain and therefore guide clinicians to carry out individualized treatment. We represent a case of postpartum coccydynia treated by platelet-rich plasma (PRP) which was assessed and followed by MRI. A primipara with uncomplicated labor developed coccygeal pain after delivery that significantly limited her postpartum recovery. On the first MR scan, recorded 6 months after delivery, there were edematous changes of the vertebral endplates of Co1-4 level (Modic type I) with the presence of pronounced precoccygeal venous drainage. Degenerative changes with signs of edema in the area of the pubic symphysis were recorded. The sacroiliac joints had regular morphological features. Since the patient was breastfeeding, PRP therapy was applied with a total of three injections in the area of the coccyx subcutaneously, once every 3 months. The subjective feeling of pain reduction after each injection was about 30%, with the complete withdrawal of pain after one year and still pain-free at the two-year follow-up. One year after the initial MR imaging, a follow-up MR examination was performed, where almost complete resolution of edematous changes in the previously present zones was observed, with residual minor edema of the vertebral endplates at the Co2-3 level. Edema of the pubic bones in the area of the pubic symphysis also subsided. A case of labor-induced coccydynia that was represented as Modic type I changes without neither fracture or luxation was successfully treated with PRP with complete resolution of symptoms.
Laparoscopic onlay-flap ureteroplasty using cecal appendix
Authors: Miquel Amer-Mestre, Valenti Tubau, Ricardo Guldris-García, Javier Brugarolas Rossello, Enrique Pieras Ayala
Journal: Int Braz J Urol (2024)
MeSH terms: Hydronephrosis / surgery, Laparoscopy, Renal Insufficiency, Chronic / surgery, Ureter / surgery, Ureteral Obstruction / surgery, Case Reports, Video-Audio Media, Constriction, Pathologic / surgery, Humans, Male, Middle Aged

Introduction:
The management of ureteral strictures longer than 1-2 cm must be treated by major surgery (1, 2). The strictures located at the distal part of the ureter can be managed by a ureteral reimplantation using a psoas hitch or a Boari flap depending on its proximity to the bladder (3). Those located at the proximal ureter can be treated by a pyeloplasty (4). The ureteric strictures in the mid-ureter are the ones that pose a greater challenge for the urologist because a ureteral substitution is needed, either using a segment of the intestine or a buccal mucosa graft (5, 6). Our main objective is to present the management and results at 36 months of a patient with a right mid-ureter stricture.
Material and methods:
A 63-year-old male with chronic kidney disease (CKD) and a right single functioning kidney was referred to our department with the diagnosis of a 3 cm stricture in the right mid-ureter. He had a long-term JJ-stent in place but in the last year we had to replace it three times precociously and he even needed the placement of a nephrostomy tube due to the obstruction of the JJ-stent. Accordingly, a permanent resolution was sought and a laparoscopic onlay-flap ureteroplasty using cecal appendix was performed.
Results:
The first step was to identify the cecal appendix. Then we identified and dissected the ureter. With the ureter dissected, we performed a ureteroscopy to pinpoint the stricture. Once we knew where the stricture was, we proceeded with the ureterotomy and preparation of the cecal appendix. The final step was to perform the ureteroplasty between the ureter and the cecal appendix placing a JJ-stent before the last stitches were done. Total operative time was 190 minutes without any intraoperative complication. The JJ-stent was removed 7 weeks later. The follow-up of the patient was done with regular blood test and ultrasound to rule out deterioration of the CKD and worsening of the residual hydronephrosis. With a follow-up of 36 months, the patient is stent free, he hasn't had any further intervention and neither the CKD nor the hydronephrosis haven't worsened.
Conclusions:
Laparoscopic onlay-flap ureteroplasty using cecal appendix is a feasible and well tolerated procedure for patients with right mid-ureter stricture. However, we must bear in mind the difficulty of these cases and they should be performed in expert centers.
Endovascular intervention with intravascular ultrasound guidance of very early dissection complication in transplant renal artery: a case report and literature review
Authors: Vu Hoang Vu, Nghia Thuong Nguyen, Chinh Duc Nguyen, Khang Duong Nguyen, Binh Quang Truong
Journal: Front Cardiovasc Med (2024)
Keywords: complication, endovascular intervention, intravascular ultrasound, kidney transplantation, transplant renal artery dissection
MeSH terms: Case Reports

Background:
Transplant renal artery dissection (TRAD) is a rare and serious event that can cause allograft dysfunction and eventually graft loss. Most cases are managed by operative repair. We report a case of TRAD in the early postoperative period, which was successfully managed with intravascular ultrasound-assisted endovascular intervention.
Case presentation:
A 38-year-old man underwent HLA-compatible living kidney transplantation. The allograft had one renal artery and vein, which were anastomosed to the internal iliac artery and external iliac vein, respectively. Doppler ultrasonography performed a day after the operation showed an increase in systolic blood velocity, with no observed urine output and raising a suspicion of arterial anastomotic stenosis. Angiography showed a donor renal artery dissection distal to the moderately stenosed anastomosis site with calcified atherosclerotic plaque confirmed by IVUS. The transplant renal artery lesion was intervened with a stent. After the intervention, Doppler US revealed that the blood flow of the renal artery was adequate without an increase in the systolic blood velocity. Urine output gradually returned after 3 weeks, and serum creatinine level was normalized after 2 months.
Conclusions:
Transplant recipients commonly have atherosclerosis and hypertension, which are risk factors for arterial dissection. Our case showed that endovascular intervention can replace surgery to repair very early vascular complications such as dissection and help patients avoid high-risk operations. Early diagnosis and IVUS-assisted intervention with experienced interventionists can save allograft dysfunction.
Recurrent multiple eye muscle palsy as a first sign of sarcoidosis
Authors: Isabel Deboutte, Daisy Godts, Michel Van Lint
Journal: GMS Ophthalmol Cases (2023)
Keywords: eye muscle palsy, neurosarcoidosis, sarcoidosis
MeSH terms: Case Reports

Purpose:
To report a case of (neuro)sarcoidosis presenting solely with recurrent cranial nerve palsies in a 57-year-old Caucasian female.
Methods:
Case report with clinical imaging.
Results:
A 57-year-old female first presented with a right sixth nerve palsy, which resolved spontaneously after 6 months. Three years later she was diagnosed with a sixth nerve palsy in the fellow eye followed by a complete palsy of the left third cranial nerve four months after. Medical history consisted of migraine and hypercholesterolemia. Further neurological and ophthalmic work-up was unrevealing at first. After repeated magnetic resonance imaging, an enhancing lesion in the left cavernous sinus was seen, which was initially diagnosed as a meningioma. However, imaging of the chest revealed an image of sarcoidosis, and the lesion and ophthalmoplegia of the left eye disappeared with systemic corticosteroid treatment.
Discussion:
Sarcoidosis is the ultimate imitator and the possibility of neurosarcoidosis must be taken into account when presented with unexplained ophthalmoplegia. Neurosarcoidosis has imaging properties very similar to other diseases such as a meningioma, and misdiagnosis occurs easily. Spontaneous recovery of ophthalmoplegia can rarely occur in neurosarcoidosis.
Case report: Thrombotic thrombocytopenic purpura in a pregnant woman with lupus membranous nephropathy: a diagnostic challenge
Authors: Marina Leiva, Gustavo Navarro, J Daniel Carpio, Leopoldo Ardiles
Journal: Front Nephrol (2024)
Keywords: adamst 13, acute kidney injury, lupus (sle), microangiopathic anemia, thrombocytopenia
MeSH terms: Case Reports

A 27-year-old female at 20th week of pregnancy was admitted with edema, foamy urine, but normal blood pressure. Her blood count was normal, she had proteinuria of 3 g/day, creatinine 0.4 mg/dl, albumin 2.4 g/dl, and cholesterol 355 mg/dl. Antinuclear antibodies 1/160, but Anti-DNA, anticardiolipin antibodies and lupus anticoagulant were negative, with normal serum C3 and C4. A renal biopsy showed secondary membranous glomerulopathy, most likely lupus class V pure. Steroids, azathioprine, and aspirin were initiated, up to 28 weeks of pregnancy, when she developed severe hypertension, photopsia, headache, anasarca, extensive bruising of the extremities, severe anemia, thrombocytopenia, and creatinine rose to 2.09 mg/dl with preserved diuresis. A female infant, 1045 grams, was delivered by emergency caesarean section. Following the surgery, she experienced diplopia, dysarthria, bradypsychia, and sensory alterations in the lower extremities, necessitating emergency hemodialysis due to pulmonary congestion. Blood smear revealed schistocytes, LDH elevated at 1148 IU/L, while transaminases and liver function remained normal, suggesting thrombotic thrombocytopenic purpura. ADAMTS13 revealed 6% activity with the presence of inhibitor. Mycophenolate and daily plasmapheresis with fresh frozen plasma replacement yielded unsatisfactory response, unaffected by the addition of methylprednisolone pulses and rituximab. Eventually, intravenous cyclophosphamide was introduced, resulting in complete hematological remission and normalization of ADAMTS13, however dialysis-dependence persisted and four years later, right renal cancer prompted bilateral nephrectomy. After a total follow-up of six years, she remained free of neoplastic recurrence and lupus activity, receiving prednisone and hydroxychloroquine. The differential diagnosis of microangiopathic syndrome in a pregnant lupus patient is discussed.
Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants
Authors: Maria Clara Bonaglia, Eliana Salvo, Manuela Sironi, Sara Bertuzzo, Edoardo Errichiello, Teresa Mattina, Orsetta Zuffardi
Journal: Front Genet (2023)
Keywords: fbn1, robo2, chromothripsis, complex chromosome rearrangement, intellectual disability
MeSH terms: Case Reports

Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral copy-number-variant insensitive to quantitative investigations. This study aimed to provide a molecular diagnosis to a boy with Marfan syndrome (MFS) and intellectual disability (ID) carrying a de novo translocation involving chromosomes 3, 4, and 13 and a 1.7 Mb deletion at the breakpoint of chromosome 3. No FBN1 alteration explaining his Marfan phenotype was highlighted. UHMW gDNA was isolated from both the patient and his parents and processed using OGM. Genome assembly was followed by variant calling and annotation. Multiple strategies confirmed the results. The 3p deletion, which disrupted ROBO2, (MIM*602431) included three copy-neutral insertions. Two came from chromosome 13; the third contained 15q21.1, including the FBN1 from intron-45 onwards, thus explaining the MFS phenotype. We could not attribute the ID to a specific gene variant nor to the reshuffling of topologically associating domains (TADs). Our patient did not have vesicular reflux-2, as reported by missense alterations of ROBO2 (VUR2, MIM#610878), implying that reduced expression of all or some isoforms has a different effect than some of the point mutations. Indeed, the ROBO2 expression pattern and its role as an axon-guide suggests that its partial deletion is responsible for the patient's neurological phenotype. Conclusion: OGM testing 1) highlights copy-neutral variants that could remain invisible if no loss of heterozygosity is observed and 2) is mandatory before other molecular studies in the presence of any chromosomal rearrangement for an accurate genotype-phenotype relationship.
Tooth Root Abscess and Mandibular Infections in Old World Camelids: 3 Cases
Authors: Alyssa Sparnon, Joe Smith, Pierre-Yves Mulon, Silke Hecht, David Anderson, Sarel Van Amstel
Journal: Case Rep Vet Med (2024)
MeSH terms: Case Reports

There are limited reports of mandibular infections and tooth root abscesses in camels (Old World Camelids). This is in contrast to multiple reports and case series detailing diagnosis, management, and therapy of similar infections in New World Camelids such as llamas and alpacas. The purpose of this case series is to present three cases of camels in North America with these infections and to detail the diagnostics, therapeutic interventions, management, and follow-up of these cases. Radiography was utilized in all three cases, as was sedation and/or anesthesia. Similar to llamas, florfenicol was used for antimicrobial therapy and flunixin meglumine was utilized as a nonsteroidal anti-inflammatory. Some degree of lavage was required for the management of each case. Clinicians should be aware of the potential need for sedation, diagnostic imaging, culture, and extended therapies for the treatment of mandibular and tooth root infections in camels as comparatively described for llamas and alpacas.
Case report: Successful treatment of ulcerative colitis-related post-colectomy enteritis refractory to multiple therapies with ustekinumab
Authors: Chenglin Guo, Shengduo He, Huahong Wang
Journal: Front Immunol (2024)
Keywords: high-output stoma, post-colectomy, ulcerative colitis, ulcerative colitis-related severe post-colectomy enteritis, ustekinumab
MeSH terms: Colitis, Colitis, Ulcerative / drug therapy, Colitis, Ulcerative / surgery, Enteritis / drug therapy, Enteritis / etiology, Case Reports, Comment, Colectomy, Female, Humans, Middle Aged, Ustekinumab / therapeutic use, Ustekinumab

Ulcerative colitis-related severe post-colectomy enteritis is a rare condition. A few cases have undergone successful treatment with corticosteroids, Cyclosporine, Azathioprine, and Infliximab. We aim to evaluate the treatment outcome of ustekinumab in this rare case. Here we describe a 56-year-old woman with post-colectomy enteritis refractory to multiple therapies. Finally, the patient was administered with ustekinumab treatment. Under monitoring, the feces volume of the patient decreased from 5000-7000 mL per day to 1700-2000 mL. Over a one-year follow-up period, the patient gradually gained body weight, with the stoma drainage of formed brown stool. And the villi of the small intestinal mucosa restore growth. To our knowledge, this is the first report that indicates ustekinumab could be a treatment selection for ulcerative colitis-related severe post-colectomy enteritis.
Purtscher's Retinopathy Following Long Bone Fracture: A Case Report
Authors: Muzzaffar Mad Isa, Yaakub Azhany, Rosnita Alias, Wan-Hazabbah Wan Hitam
Journal: Cureus (2024)
Keywords: cotton wool spots, long bone fracture, purtscher flecken, purtscher’s retinopathy, retina ischaemia
MeSH terms: Case Reports

Purtscher's retinopathy represents an occlusive retinal microvasculopathy that poses a potential threat to vision and is linked to traumatic events. This condition typically manifests in individuals following trauma, commonly associated with long bone fractures, head injuries, or thoracic compression. We report a rare case of unilateral Purtscher's retinopathy after sustaining a long bone fracture. A 27-year-old healthy man sustained an open, comminuted midshaft fracture of the right femur after an alleged motor vehicle accident. On day 3 post trauma, he developed sudden right eye painless reduced vision. Visual acuity in the right eye was 6/12 pinhole 6/12 and the left eye was 6/9 pinhole 6/6. The pupillary reflex was normal in both eyes. Both anterior segments were unremarkable. Fundoscopy showed the presence of multiple cotton wool spots and fleckens in the right eye. Macula optical coherence tomography of the right eye confirmed hyperreflective lesions within the retinal nerve fiber layer. He was diagnosed with Purtscher's retinopathy. The patient was treated conservatively given the fairly good visual acuity. There was complete resolution of fundus lesions with good visual acuity of 6/6 after one month. Ophthalmologic evaluation is crucial in cases of post-traumatic visual impairment, particularly in scenarios involving long bone fractures, to effectively exclude the possibility of Purtscher's retinopathy.