OpenMed/multicare-articles huggingface dataset:
Pseudotumoral form of schistosomiasis mimicking neuroendocrine tumor: a case report and brief review of the differential diagnosis of retroperitoneal masses
Authors: Luis Marín-Martínez, Georgios Kyriakos, David Sánchez-Gutiérrez
Journal: Pan Afr Med J (2020)
Keywords: retroperitoneal mass, neuroendocrine tumor, paraganglioma, schistosomiasis
MeSH terms: Neuroendocrine Tumors / diagnosis, Retroperitoneal Neoplasms / diagnosis, Retroperitoneal Space / parasitology, Schistosomiasis / diagnosis, Case Reports, Review, Diagnosis, Differential, Humans, Male, Middle Aged, Radionuclide Imaging, Single Photon Emission Computed Tomography Computed Tomography

Differential diagnosis of retroperitoneal masses may become complex and requires careful anamnesis, physical examination and several complementary tests. We present the clinical case of a male patient aged 45 years who was diagnosed with a 4cm paraaortic lesion compatible with neuroendocrine tumor in the abdominal computed tomography (CT) exam. The workup performed with SPECT-CT, somatostatin receptors scintigraphy, MIBG scintigraphy, 24-hour urine total and fractionated catecholamines and 24-hour urine 5-OH indoleacetic did not confirm the first diagnostic impression. Finally, the lesion was biopsied and presence of micro-organisms was revealed. Further exams confirmed schistosomiasis as the cause of the paraaortic lesion. Histological diagnosis can be helpful with regard to the differential diagnosis of retroperitoneal masses.
Primary Leiomyosarcoma of the Gallbladder
Authors: Anwar Chammout, Mike Ghabally, Christina Masri, Nour Tantak, Fadi Ward, Ghefar Omar
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Leiomyosarcoma (LMS) of the gallbladder is an extremely rare entity. Most reported cases were mistakenly diagnosed preoperatively as cholecystitis with or without cholelithiasis. We believe that our article demonstrates the 5th case of gallbladder LMS that was suspected preoperatively to be malignant rather than cholecystitis, which fortunately led to radical resection of the tumor instead of simple cholecystectomy. However, the definitive diagnosis relies exclusively on histological and immunohistochemical techniques. We present a case of a 62-year-old Caucasian female complaining of signs and symptoms suggestive for cholecystitis. On ultrasonography, the gallbladder appeared enlarged and filled with a necrotic mass; thus, the presence of adenocarcinoma was suspected. Multislice Computerized Tomography (MSCT) demonstrated no distant metastasis. An extensive radical cholecystectomy was performed, and histological techniques confirmed a leiomyosarcoma diagnosis. In addition, adjuvant chemotherapy of doxorubicin and ifosfamide was administrated. The patient was on follow-up for 2 years and is doing well till date. The discrimination of gallbladder sarcoma preoperatively remains a clinical and radiological challenge. Although radical resection of the tumor remains the mainstay of the treatment, we believe that adjuvant chemotherapy should be administrated in such cases. However, further studies are required in this field.
Maintenance therapy with subcutaneous immunoglobulin in a patient with immune-mediated neuropathic postural tachycardia syndrome
Authors: Kalliopi Pitarokoili, Andrea Maier, Elena C de Moya Rubio, Katrin Hahn, Gerd Wallukat, Diamantis Athanasopoulos, Thomas Grüter, Jeremias Motte, Anna Lena Fisse, Ralf Gold
Journal: J Transl Autoimmun (2021)
Keywords: autoimmunity, neuropathic postural tachycardia syndrome, small fiber neuropathy, subcutaneous immunoglobulin
MeSH terms: Case Reports

Aims:
We describe the disease course of a 35-year-old female with an autoimmune mediated neuropathic postural tachycardia syndrome (PoTS), who responded to immunoglobulin therapy and stabilized on maintenance therapy with subcutaneous immunoglobulin (SCIg).
Methods:
We provide longitudinal data of clinical scores, tilt-table results and antibody titers.
Results:
Initial treatment with intravenous immunoglobulin caused infusion-related side-effects whereas SCIg was well tolerated and improved clinical symptoms and quality of life. Clinical improvement correlated with the reduction of serum antibody titers 22 months after first infusion.
Conclusions:
These findings suggest that autoimmune-mediated neuropathic PoTS can be treated sufficiently with IVIg whereas SCIg minimizes side-effects.
An Intracranial Extradural Dermoid Cyst Presenting with Two Dermal Sinuses and an Abscess in a Child
Authors: Aysha Albastaki, Reem AlThawadi, Janan Alajaimi, Khawla F Ali, Talal Almayman
Journal: Case Rep Neurol Med (2021)
MeSH terms: Case Reports

Dermoid cysts account for only a small fraction of intracranial masses, with extradural dermoid cysts being considered a much rarer entity than those located intradurally. Intracranial dermoid cysts vary in clinical presentations: some maybe asymptomatic whilst others harbor features of raised intracranial pressure, neurological deficits, or even aseptic meningitis. Dermoid cysts may also present with cutaneous lesions. Herein, we report a rare case of a 1-year-old female presenting with a midline, scalp abscess. Brain MRI revealed an intracranial, extradural tumor, with features suggestive of a dermoid cyst, unusually located in the crista galli, and complicated by the formation of two cutaneous sinus tracts. After identification and characterization by MRI, bitemporal craniotomy was performed with complete excision of the mass and sinus tracts. Histological analysis confirmed dermoid cyst as the final diagnosis. Postoperatively, the patient recovered fully and had no evidence of recurrence in subsequent visits. The case mentioned above highlights the rarity of such a presentation for an intracranial extradural dermoid cyst and the vitality of early imaging for midline cutaneous lesions for identification of intracranial extensions and avoidance of detrimental consequences.
An Acquired Form of Dandy-Walker Malformation with Enveloping Hemosiderin Deposits
Authors: Tadashi Shiohama, Ryo Ando, Katsunori Fujii, Hiroki Mukai, Yuki Naruke, Katsuo Sugita, Eiji Kato, Naoki Shimojo
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Dandy-Walker malformation (DWM) is a posterior fossa anomaly characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. The cyst of DWM rarely extends posteriorly to almost completely fill the entire posterior fossa, which mimics primary cerebellar agenesis, a cerebellar porencephalic cyst, and an arachnoid cyst due to the lack of clarity of the thin cystic wall. A 10-month-old female born at 23 weeks' gestation with cerebellar hemorrhage in the neonatal period was admitted to our hospital with dysphagia and side-to-side head bobbing. The detection of hemosiderin deposits enveloping the cyst wall by T2 star-weighted angiography (SWAN) was useful for the differential diagnosis of an acquired form of DWM from primary cerebellar agenesis. Cyst fenestration successfully improved dysphagia and head bobbing. A pathological specimen of the perforated cyst consisted of collagen fibers with hemosiderin deposits but lacked congenital cyst components. In infants with posterior fossa cysts, SWAN will be useful for a differential diagnosis between DWM and primary cerebellar agenesis.
Ultrasound-Guided Percutaneous Radiofrequency Thermal Neuroablation for the Treatment of Adductor and Rectus Femoris Spasticity
Authors: Adriana Pascoal, Carolina Lourenço, Filipe N Ermida, Ana Costa, José Luís Carvalho
Journal: Cureus (2023)
Keywords: paraplegia, radiofrequency thermic neuroablation, spasticity, spinal cord injury, ultrasound guided
MeSH terms: Case Reports

Spasticity is a very frequent complication of spinal cord injury (SCI) that can limit activities of daily living, reduce the quality of life, and augment caregiver burden. This problem has many treatment options that should be selected according to the clinical and functional scenario. This case study presents a 60-year-old female patient with complete spastic paraplegia after a spinal stroke. Spasticity interfered with activities of daily living, mainly with intermittent catheterization and transfers, and botulinum toxin injections failed to efficiently treat this issue. It was decided to perform an ultrasound-guided radiofrequency thermal ablation of the anterior and posterior branches of the obturator nerve and motor branches to the rectus femoris of the femoral nerve to treat the adductors and rectus femoris spasticity. One year after the radiofrequency treatment, the patient showed considerably reduced spasticity, allowing her caregiver to do transfers and easier intermittent urinary catheterizations. Nerve radiofrequency thermal ablation has the potential to be an effective therapy in lower limb spasticity, with long-lasting effects.
A case of intestinal malrotation apparent after laparoscopically total proctocolectomy followed by ileal-pouch-anal anastomosis for ulcerative colitis
Authors: Hidetaka Ichikawa, Shinobu Ohnuma, Hirofumi Imoto, Sakiko Kageyama, Minoru Kobayashi, Taiki Kajiwara, Hideaki Karasawa, Atsushi Kohyama, Kazuhiro Watanabe, Naoki Tanaka, Takashi Kamei, Michiaki Unno
Journal: Asian J Endosc Surg (2023)
Keywords: intestinal malrotation, total proctocolectomy, ulcerative colitis
MeSH terms: Colitis, Ulcerative / surgery, Intestinal Obstruction / surgery, Proctocolectomy, Restorative / adverse effects, Proctocolectomy, Restorative / methods, Case Reports, Anastomosis, Surgical / methods, Humans, Ileum / surgery, Male, Middle Aged, Postoperative Complications / surgery

Intestinal malrotation (IM) is an abnormality due to a failure of the normal midgut rotation and fixation. We report a case of 46-year-old man with ulcerative colitis whose IM was apparent after laparoscopically total proctocolectomy (TPC) followed by ileal-pouch-anal anastomosis (IPAA) and ileostomy. There was no abnormal anatomy except for mobile cecum/ascending colon during the initial operation. Intestinal obstruction occurred after ileostomy closure. The computed tomography scan showed the duodeno-jejunal transition was located in right abdomen, the superior mesenteric vein was located left of the superior mesenteric artery (SMA) and the obstruction point was the distal ileum near the pouch. We performed an ileo-ileo bypass across the ventral side of the SMA to relieve the intestinal obstruction. The patient would have incomplete IM preoperatively, which became apparent by TPC. In case of TPC for mobile colon, anatomy of small intestine should be checked before IPAA.
An Exceptional Responder to Nivolumab in Metastatic Non-Small-Cell Lung Cancer: A Case Report and Literature Review of Long-Term Survivors
Authors: Babak Baseri, Bachar Samra, Eric Tam, Edwin Chiu, Andrea Leaf
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Background:
Exceptional responders to immune checkpoint inhibitors in metastatic non-small-cell lung cancer (NSCLC) are rare. Furthermore, the optimal duration of immunotherapy in patients who achieve complete remission and the benefit of rechallenge after recurrence remain unknown. Studying the clinical course of exceptional responders can help identify potential predictors of response to immunotherapy and further fine-tune our management algorithms in the absence of standard of care in challenging scenarios.
Case presentation:
We highlight the case of a 73-year-old Vietnam War Veteran with active tobacco dependence who achieved complete response with nivolumab for metastatic NSCLC after four prior lines of chemotherapy. Nivolumab was discontinued after 10 cycles due to immune-mediated hepatitis that resolved with steroids. He remained in complete remission for 14 months while off therapy. Then, his tumor recurred twice locally in the mediastinum and he again achieved complete and durable responses after each recurrence with radiotherapy. Due to recurrence in both lungs one year later, he was rechallenged with nivolumab and achieved partial response after two months of therapy. He continues to do well five and a half years since his initial diagnosis of de novo metastatic NSCLC.
Conclusion:
Optimal management of exceptional responders to immune checkpoint inhibitors in metastatic NSCLC is largely unknown. Our case report adds to the limited data supporting the use of localized therapy for oligometastatic recurrences and rechallenge with immunotherapy for widespread disease in achieving disease control and long-term survival.
A Case Report of Successful Conservative Treatment for Infective Endocarditis Caused by Gemella sanguinis
Authors: Georgia Emmanouilidou, Panagiota Voukelatou, Ioannis Vrettos, Vasileia Aftzi, Konstantinos Dodos, Despoina Koumpouli, George Avgeropoulos, Andreas Kalliakmanis
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Infective endocarditis is defined as an infection of a native or prosthetic heart valve, the endocardial surface of the heart, or an indwelling cardiac device. Among the miscellaneous emerging opportunistic bacteria that can cause infective endocarditis is Gemella sanguinis that has been reported as a cause of infective endocarditis in nine cases in the past. All of the survivors received antimicrobial therapy and underwent prosthetic valve replacement surgery while, in general, a proportion of 40-50% of the patients with infective endocarditis underwent valve surgery. Our case illustrates that valve surgery, in combination with the administration of antibiotics, is not the only therapeutic option for infective endocarditis due to Gemella sanguinis and that a conservative management with prolonged administration of parenteral antibiotics under close supervision of the patient can be an option.
Leiomyosarcoma and Squamous Cell Carcinoma Arising in Mature Cystic Teratoma of the Ovary
Authors: Tip Pongsuvareeyakul, Kornkanok Sukpan, Somjet Chaicharoen, Surapan Khunamornpong
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

The occurrence of malignant transformation in mature cystic teratoma of the ovary is rare, with squamous cell carcinoma being the most common histologic type. Sarcomatous transformation has been rarely described in the literature. We present a case of leiomyosarcoma with a minor component of squamous cell carcinoma arising in mature cystic teratoma of ovary in a 65-year-old woman. The malignant tumor showed two distinct components of sarcomatous and invasive epithelial elements, which were confirmed by immunostaining. To our knowledge, only four cases of leiomyosarcoma in ovarian mature cystic teratoma have been reported and this is a unique case report of leiomyosarcoma and squamous cell carcinoma arising in a mature cystic teratoma of ovary.
The Use of Awake Videolaryngoscopy and an Innovative Flexible-Tipped Bougie in a Potentially Difficult Airway
Authors: Will A Watson, John Cormack
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

We present a case where awake videolaryngoscopy (VL) was used, along with a flexible-tipped bougie to allow endotracheal intubation in a challenging airway. The patient presented for resection of a large left-sided parapharyngeal mass. Examination and imaging led to concerns about a potentially difficult airway. Awake VL was used to assess the grade of intubation before induction of anesthesia. Once the patient was anesthetized, a flexible-tipped bougie was used to navigate past the mass, allowing successful intubation. This case report demonstrates the combination of these two technologies to provide effective airway management in the potentially difficult airway.
The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype
Authors: J Martone, F Briganti, I Legnini, M Morlando, E Picillo, O Sthandier, L Politano, I Bozzoni
Journal: Nat Commun (2016)
MeSH terms: CELF Proteins / genetics, Muscular Dystrophy, Duchenne / genetics, Nerve Tissue Proteins / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, CELF Proteins / metabolism, Dystrophin / genetics, Dystrophin / metabolism, Exons, Genotype, Humans, Male, Muscular Dystrophy, Duchenne / metabolism, Nerve Tissue Proteins / metabolism, Phenotype, RNA Splicing, CELF Proteins, CELF2 protein, human, Dystrophin, Nerve Tissue Proteins

Substitutions, deletions and duplications in the dystrophin gene lead to either the severe Duchenne muscular dystrophy (DMD) or mild Becker muscular dystrophy depending on whether out-of-frame or in-frame transcripts are produced. We identified a DMD case (GSΔ44) where the correlation between genotype and phenotype is not respected, even if carrying a typical Duchenne mutation (exon 44 deletion) a Becker-like phenotype was observed. Here we report that in this patient, partial restoration of an in-frame transcript occurs by natural skipping of exon 45 and that this is due to the lack of Celf2a, a splicing factor that interacts with exon 45 in the dystrophin pre-mRNA. Several experiments are presented that demonstrate the central role of Celf2a in controlling exon 45 splicing; our data point to this factor as a potential target for the improvement of those DMD therapeutic treatments, which requires exon 45 skipping.
ANA-Negative Presentation of SLE in Man with Severe Autoimmune Neutropenia
Authors: Melissa Zhao
Journal: Case Rep Med (2016)

Background. Systemic lupus erythematosus (SLE) is a chronic, inflammatory, connective tissue disease that commonly affects the joints and a variety of organs due to an overactivation of the body's immune system. There is wide heterogeneity in presentation of SLE patients, including lung, central nervous system, skin, kidney, and hematologic manifestations. Case Presentation. We report a case of atypical manifestation of SLE in a 53-year-old man who presented with neutropenic fever. Physical findings of interest included oral ulcers on the lower lip, a malar-like rash across the bridge of the nose, and a discoid-like rash on extensor surfaces of the elbows and knees. Labs include ANC <100, weakly positive anti-dsDNA, negative ANA, ferritin 1237 ng/mL, low C3/C4, and positive direct Coombs' test. A thorough workup for infection and hematologic malignancy was negative. Two days after initiation of therapy with 25 mg IV solumedrol twice a day, the patient's daily fevers resolved. ANC drastically improved to 2000 after two weeks of steroid treatment. He was later found to have a high titer of anti-neutrophil antibodies. Discussion. Autoimmune leukopenia is a common presentation in SLE, occurring in 50-60% of patients. Severe autoimmune neutropenia is uncommon and may correlate with high anti-neutrophil antibody activity despite a negative ANA. As neutropenia is usually mild, there are currently no guidelines for therapy. For our patient, we started him on low dose IV solumedrol and found that he responded drastically to treatment. Given strongly positive nonspecific anti-neutrophil antibodies in the setting of a negative ANA noted in our patient, it is likely that there are other currently unknown antibodies associated with SLE which may correlate strongly with autoimmune neutropenia.
Pathological Discrepancy: Simple Mesenteric Cyst vs. Mesenteric Lymphangioma
Authors: Vygintas Aliukonis, Marius Lasinskas, Algirdas Pilvelis, Audrius Gradauskas
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Introduction:
Both mesenteric cysts and cystic lymphangiomas are scarce and clinically and radiologically almost identical derivatives, but their histological structure is fundamentally different. Case Presentation. A 52-year-old woman was consulted by a surgeon for a derivative felt in her abdomen. The patient said she felt a growing derivative in the abdomen about a month ago. After consulting and testing, a sigmoid colon mesenteric cyst (13 cm × 11 cm × 10 cm) was found. Complete excision of the cyst within healthy tissues was performed through laparotomy. The surgery had no complications. The initial pathological answer was a simple mesothelial cyst (a rare histological finding). However, immunohistochemical tests were performed that showed that diagnosis was mesenteric cystic lymphangioma (ML). Cystic lymphangiomas that have a link to the mesentery have been described less than 200 times.
Conclusions:
Final differential diagnosis between different cystic derivatives is possible only based on histopathological examinations. Mesenteric lymphangioma is most common at a very young age, but in rare cases, it also occurs in adults. All clinicians should increase their awareness of the disease.
CASE REPORT Treatment of Otophyma: Case Report and Review of the Literature
Authors: K S Sharma, J Pollock, S Hasham, T M Brotherston
Journal: Eplasty (2013)

Objectives:
Otophyma is a rare condition that can present as the end stage of any chronic inflammatory disease affecting the ear such as rosacea, eczema, or otitis externa. It can result in conductive hearing loss, low self-esteem, and social embarrassment. This report highlights a case of otophyma treated successfully using a full-thickness skin graft.
Methods:
We present a case of a 41-year-old lady referred to our department with a 23-year history of bilateral otophyma. During this time, her hearing progressively diminished as the swelling occluded her external auditory meatus. She had been unsuccessfully managed for years with topical emollients, steroids, and regular ear toileting.
Result:
She was treated by excision of the phymatous tissue and full-thickness grafting, which resulted in a patent external auditory meatus and an improvement in her hearing.
Conclusions:
The use of a full-thickness skin graft is one of the many treatment options available for the treatment of otophyma. We present a literature review on this uncommon condition and a discussion on the various treatment options available to the patient.
FoundationOne CDx detected an uncovered variant of epidermal growth factor receptor exon 19 deletion by Oncomine Dx target test in a patient with lung adenocarcinoma
Authors: Hiroki Takahashi, Hirokazu Ogino, Hiroki Bando, Atsushi Mitsuhashi, Yuki Tsukazaki, Yohei Yabuki, Ryohiko Ozaki, Hiroto Yoneda, Seidai Sato, Masaki Hanibuchi, Yasuhiko Nishioka
Journal: Respir Med Case Rep (2023)
Keywords: comprehensive genomic profiling, driver mutations, epidermal growth factor receptor, foundationone cdx, lung adenocarcinoma, oncomine dx target test
MeSH terms: Case Reports

A non-smoker woman with advanced lung adenocarcinoma was referred to us. The Oncomine Dx target test (ODxTT), a next-generation sequencing (NGS)-based hot spots panel test, did not detect any driver mutations, so we treated her with chemo-immunotherapy. After second-line chemotherapy, we performed FoundationOne CDx, a NGS-based comprehensive genomic profiling (CGP) test, and identified a rare variant of epidermal growth factor receptor exon 19 deletion that had not been covered by ODxTT. This case highlights the importance of considering the indication of a CGP test for patients who are likely to harbor driver mutations, even when ODxTT fails to detect any.