OpenMed/multicare-articles huggingface dataset:
Natural history of ROHHAD syndrome: development of severe insulin resistance and fatty liver disease over time
Authors: Abdel Wahab Jalal Eldin, Dilara Tombayoglu, Laura Butz, Alison Affinati, Rasimcan Meral, Mehmet Selman Ontan, Kelly Walkovich, Maria Westerhoff, Jeffrey W Innis, Neehar D Parikh, Elif A Oral
Journal: Clin Diabetes Endocrinol (2019)
Keywords: atypical diabetes, glp-1 agonists, insulin resistance, obesity, rohhad
MeSH terms: Case Reports

Background:
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare syndrome with unknown etiology. Metabolic abnormalities are not known to be part of the syndrome. We present one of the oldest cases reported in the literature, who developed severe metabolic abnormalities and hepatic disease suggesting that these features may be part of the syndrome.
Case presentation:
A 27-year-old woman, diagnosed with ROHHAD syndrome at age 15, who previously developed diabetes insipidus, growth hormone deficiency, hyperprolactinemia, and hypothyroidism in her first decade of life. This was followed by insulin resistance, NAFLD, liver fibrosis, and splenomegaly before age 14 years. Her regimen included a short course of growth hormone, and cyclic estrogen and progesterone. Her metabolic deterioration continued despite treatment with metformin. Interestingly, she had a favorable response to liraglutide therapy despite having a centrally mediated cause for her obesity. At age 26, a 1.6 cm lesion was found incidentally in her liver. Liver biopsy showed hepatocellular carcinoma which was successfully treated with radiofrequency ablation.
Conclusion:
Metabolic abnormalities, Insulin resistance and fatty liver disease are potentially part of the ROHHAD syndrome that may develop over time. GLP1 agonists were reasonably effective to treat insulin resistance and hyperphagia. Patients with ROHHAD may benefit from close follow up in regards to liver disease.
Case Report: Paratesticular Rhabdomyosarcoma
Authors: Yiyi Zhu, Ziwei Zhu, Yunyuan Xiao, Zaisheng Zhu
Journal: Front Oncol (2021)
Keywords: chemotherapy and radiotherapy, endocrine follow-up, nerve-sparing retroperitoneal lymph node dissection, paratesticular rhabdomyosarcoma, sperm cryopreservation
MeSH terms: Case Reports

Paratesticular rhabdomyosarcoma (RMS) accounts for only 7% of all the RMS cases. Due to the limited available data, there is no consensus on the diagnosis and management of the paratesticular tumors. Here, we interrogated two paratesticular RMS cases in 25 and 27-year-old men presenting with painless and rapidly growing mass in the scrotum. Whereas the data showed no upregulation of tumor markers such as β-human chorionic gonadotropin (β-HCG), alpha-fetoprotein (AFP), and lactate dehydrogenase (LDH), scrotal ultrasonography and magnetic resonance imaging indicated the existence of paratesticular and inguinal lesions respectively. There was local recurrence in one patient who underwent radical orchiectomy for the sarcoma one year ago. In addition, the CT scans showed no occurrence of distant metastasis. The two patients underwent radical inguinal orchiectomy or resection of the recurrent tumors with nerve-sparing retroperitoneal lymph node dissection. Histologic examination revealed embryonal RMS (eRMS) without lymph node metastasis. We highlight the importance of multi-disciplinary participation for paratesticular RMS detection and preoperative ultrasound-guided needle biopsy (UNB) for rapid confirmatory diagnosis. Complete surgical resection coupled with chemotherapy and radiotherapy is the main treatment option for the paratesticular RMS. In addition, sperm cryopreservation treatment and endocrine follow-up could increase the overall survival and quality of life of the patients.
Mitral valve repair in patient with absent right superior vena cava in visceroatrial situs solitus
Authors: Toshiro Kobayashi, Takeshi Yagi, Yoshikazu Okazaki, Mitsutaka Jinbo, Satoshi Saito, Tsuyoshi Takahashi, Hidenori Gohra
Journal: J Cardiothorac Surg (2013)
MeSH terms: Heart Defects, Congenital / pathology, Mitral Valve / surgery, Mitral Valve Insufficiency / surgery, Vena Cava, Superior / pathology, Case Reports, Aged, Cardiac Surgical Procedures, Female, Heart Valve Prosthesis Implantation, Humans, Tomography, X-Ray Computed, Vena Cava, Superior / diagnostic imaging

We report on a 74-year-old woman with an absence of right superior vena cava in visceroatrial situs solitus who underwent mitral valve plasty for severe mitral regurgitation. Preoperative three-dimensional computed tomography revealed an absent right and persistent left superior vena cava that drained into the right atrium by way of the coronary sinus. Perioperaively, placement of pulmonary artery catheter, site of venous cannulation, and management of associated rhythm abnormalities were great concern. Obtaining the information about this central venous malformation preoperatively, we performed mitral valve plasty without any difficulties related to this anomaly.
Rapid multiorgan dissemination of low-grade myxofibrosarcoma: a case report
Authors: Yasutaka Murahashi, Mitsunori Kaya, Tamotsu Soma, Mikito Sasaki, Satoshi Nagoya, Takuro Wada, Toshihiko Yamashita
Journal: Case Rep Med (2012)

Myxofibrosarcoma is one of the most common sarcomas in the extremities of elderly people. It is characterized by a high frequency of local recurrence due to an infiltrative growth property. In contrast, the overall risk of distant metastases is generally low. This makes the prognosis for the patients with myxofibrosarcoma definitely good. In this paper, we will report the case of a 79-year-old female with very aggressive metastatic low-grade myxofibrosarcoma. The disease progression was really unexpected and misled every possible medical interpretation, leading to rapid worsening of the patient's clinical conditions and no chance for therapy. The tumor developed diffuse infiltration in lung, spine, skeletal bone, abdomen, paravertebral muscles, and liver. The patient died 8 months after the diagnosis of remote metastases due to rapid tumor progression.
Superficial Myofibroblastoma in the Vulva Mimicking Aggressive Angiomyxoma: A Case Report and Review of the Literature
Authors: Wei-Xia Peng, Ryuichi Wada, Shoko Kure, Masaharu Fukunaga, Zenya Naito
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

Background:
Superficial myofibroblastoma (SMF) is a very rare benign mesenchymal tumor in the female lower genital tract. Only 46 cases have been reported in the English language literature, among which only 7 cases arose in the vulva. Sometimes SMF histologically mimics aggressive angiomyxoma (AA) in which massive myxoid change in stroma is characteristic. We herein report a case of vulvar SMF with prominent myxoid stroma and review the literature with the emphasis on the differential diagnosis of SMF and AA.
Case presentation:
a 37-year-old woman presented with a painless mass in the vulva. Magnetic resonance imaging (MRI) showed a well-circumscribed 7 cm mass in the subcutis of the vulva. The tumor was resected. Histopathologically, the tumor was characterized by sparsely populated spindle-shaped cells in the fibromyxoid stroma. Thin-walled blood vessels were detected. Mitoses or pleomorphism was not found. Tumor cells were positive for vimentin, ER, PgR, and desmin. Some cells were positive for alpha-SMA and CD34. All cells were negative for S100 protein.
Conclusions:
because SMF and AA show different clinical prognoses, distinguishing SMF from AA is important. However, SMF may share many common histological features with AA: superficial localization (above fascia), sharp borderline from adjacent tissue, expansive growth pattern; a specific vascular pattern will lead to an accurate diagnosis of SMF. Familiarization with the histological characteristics of the two entities will help to make a prognostic prediction.
Isolated external iliac artery aneurysm: a rare case presentation of IgG4-related disease
Authors: Naveen Maheshwari, Venkata Vineeth Vaddavalli, Kishore Abuji, Ajay Savlania, Ritambhra Nada
Journal: J Vasc Bras (2023)
Keywords: igg4-related disease, iliac artery aneurysm, iliofemoral bypass, vasculitis
MeSH terms: Case Reports

Isolated external iliac artery aneurysm is a rare occurrence. These aneurysms have varied presentations depending on size and proximity. Both open surgical and endovascular modalities can be used for treatment depending upon presentation, aneurysmal anatomy, and patient condition. Preservation of at least one internal iliac artery is important to prevent post-repair hypogastric ischemia. There are no previous reports of IgG4-related disease (IgG4-RD) as etiology of these aneurysms. A 32-year-old male patient presented with a left lower abdominal lump and was found to have a left external iliac artery aneurysm on computed tomography angiography. The patient underwent iliofemoral bypass with an 8 mm polyester graft. Histopathological examination of the aneurysm wall suggested IgG4-RD. The patient fulfilled the 2020 Revised Comprehensive Diagnostic Criteria for IgG4-RD. An 18-Fluorodeoxyglucose-Positron Emission Tomography scan performed in the postoperative period showed no active disease, hence medical therapy was not instituted. The patient is doing well at 1 year.
Ultrasound-Guided Percutaneous Intercostal Cryoneurolysis for Acute-on-Chronic Pain in CLOVES Syndrome
Authors: Sudipta Sen, Johanna B De Haan, Mariam Mehrafza, Nadia Hernandez
Journal: Cureus (2023)
Keywords: acute pain, chronic and acute pain management, chronic pain, cloves syndrome, cryoneurolysis, intercostal nerves, regional nerve blocks
MeSH terms: Case Reports

Cryoneurolysis is an analgesic method that has been shown to provide extended pain relief in postoperative patients. However, to date, this method has not been described in nonsurgical inpatients with chronic pain experiencing an acute exacerbation. This analgesic modality has the potential to provide pain relief for patients whose expected duration of severe acute pain would outlast that of other regional anesthetic techniques while avoiding opioid escalation and facilitating discharge. We present a patient with acute exacerbation of chronic pain from breast ulcerations caused by congenital lipomatous overgrowth, vascular malformations, epidermal nevis, spinal/skeletal anomalies/scoliosis (CLOVES) syndrome that was successfully treated as an inpatient with a portable cryoneurolysis device. This is the first reported use of cryoneurolysis in an inpatient setting to treat acute-on-chronic pain in a nonsurgical patient. The authors recommend regional anesthesiologists and acute pain specialists to utilize this technique to provide analgesia in patients with complex pain to facilitate hospital throughput.
An Atypical Presentation of Disseminated Mucocutaneous Leishmaniasis Caused by Leishmania major In Iran
Authors: Pedram Normohamadpur, Forugh Ghaedi
Journal: Iran J Parasitol (2018)
Keywords: leishmania major, leishmaniasis, mucocutaneous
MeSH terms: Case Reports

Although leishmaniasis is an endemic disease in Iran the mucosal involvement is rare. Mucocutaneous leishmaniasis (MCL) mainly caused by Leishmanial braziliensis infection, reported with other Leishmania species such as L. major. Herein a 78 yr old man with MCL from Iran is presented who referred to Razi Hospital Dermatology Clinic, Tehran, Iran, for multiple ulcerative lesions on mid face skin, mucosa of upper lip and anterior fossa of nose, dorsal aspect of the hands and the posterior aspect of heels. Skin biopsy revealed necrotizing and granulomatous tissue pattern that suggested infection pathogenesis but the smear for leishmaniasis, Mycobacterium spp, and fungal elements was negative at first. In order to a positive PPD test, he was treated by anti-tuberculosis treatment. A month after starting drugs for tuberculosis, the prepared microscopical smears were positive for Leishman bodies this time. The skin biopsy revealed amastigote forms of Leishmania sp. and the PCR assay on specimens of lesions proved L. major as the principal pathogenic agent. There was good response to systemic treatment with meglumine antimoniate (Glucantime®) 3 gr per day until one week followed by 4.5 gr per day for another week. We forced to discontinue of drug because of cardiac toxicity at the end of 2nd wk of treatment.
Cerebellar tDCS: A Novel Approach to Augment Language Treatment Post-stroke
Authors: Rajani Sebastian, Sadhvi Saxena, Kyrana Tsapkini, Andreia V Faria, Charltien Long, Amy Wright, Cameron Davis, Donna C Tippett, Antonios P Mourdoukoutas, Marom Bikson, Pablo Celnik, Argye E Hillis
Journal: Front Hum Neurosci (2017)
Keywords: aphasia, cerebellar tdcs, resting state fmri, spelling therapy, stroke
MeSH terms: Case Reports

People with post-stroke aphasia may have some degree of chronic deficit for which current rehabilitative treatments are variably effective. Accumulating evidence suggests that transcranial direct current stimulation (tDCS) may be useful for enhancing the effects of behavioral aphasia treatment. However, it remains unclear which brain regions should be stimulated to optimize effects on language recovery. Here, we report on the therapeutic potential of right cerebellar tDCS in augmenting language recovery in SMY, who sustained bilateral MCA infarct resulting in aphasia and anarthria. We investigated the effects of 15 sessions of anodal cerebellar tDCS coupled with spelling therapy using a randomized, double-blind, sham controlled within-subject crossover trial. We also investigated changes in functional connectivity using resting state functional magnetic resonance imaging before and 2 months post-treatment. Both anodal and sham treatments resulted in improved spelling to dictation for trained and untrained words immediately after and 2 months post-treatment. However, there was greater improvement with tDCS than with sham, especially for untrained words. Further, generalization to written picture naming was only noted during tDCS but not with sham. The resting state functional connectivity data indicate that improvement in spelling was accompanied by an increase in cerebro-cerebellar network connectivity. These results highlight the therapeutic potential of right cerebellar tDCS to augment spelling therapy in an individual with large bilateral chronic strokes.
Case report: Pallidal deep brain stimulation for treatment of tardive dystonia/dyskinesia secondary to chronic metoclopramide medication
Authors: Johanna M Nagel, Joseph Ghika, Joachim Runge, Marc E Wolf, Joachim K Krauss
Journal: Front Neurol (2023)
Keywords: gpi dbs, case report, metoclopramide, pallidal dbs, tardive dyskinesia, tardive dystonia
MeSH terms: Case Reports

Objectives:
Tardive dystonia/dyskinesia (TDD) occurs as a side effect of anti-dopaminergic drugs, including metoclopramide, and is often refractory to medication. While pallidal deep brain stimulation (DBS) has become an accepted treatment for TDD secondary to neuroleptic medication, there is much less knowledge about its effects on metoclopramide-induced TDD.
Methods:
We present the case of a woman with metoclopramide-induced TDD, whose symptoms were initially misjudged as "functional." After 8 years of ineffective medical treatments, she received bilateral implantation of quadripolar electrodes into the posteroventral lateral globus pallidus internus (GPi).
Results:
GPi DBS led to significant symptom reduction [Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score 24/44 at admission and 7/44 at discharge]. Chronic stimulation led to full recovery from TDD symptoms 9 years after surgery. The BFMDRS motor score decreased to 0.5 (98% improvement).
Discussion:
Pallidal DBS may result in sustained improvement of TDD secondary to chronic metoclopramide intake in the long term.
Is Syringocystadenoma Papilliferum Incidental in This Verrucous Carcinoma?
Authors: Tyler Long, Brian Bonomo, Sydney Shearer, William Welton, Ralph Massullo, George Gibbons
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

This case report presents a case in which a collision tumor consisting of three separate pathological entities-a verrucous carcinoma (VC), syringocystadenoma papilliferum (SCAP), and a basal cell carcinoma (BCC). The presentation of this collision tumor is unexpected. It presented as an exophytic mass on the scalp. While collisions of SCAP and VC are present in the literature, this case included an additional pathologic entity. The association of these entities and the unreported location of the lesion may provide some further insight as to the etiology of VC.
Kaposiform Hemangioendothelioma of the GI Tract: An Exception to Occam's Principle in an Adult with SBO
Authors: Luis E Aguirre, Robert A Ali, Darcy A Kerr, Mahsa Khanlari, Gilberto Lopes
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Kaposiform hemangioendothelioma (KHE) is a rare and locally aggressive vascular tumor with histological features resembling Kaposi sarcoma and capillary hemangioma mainly occurring in children and adolescents. Approximately 200 cases have been reported since its original description in 1993, with the vast majority presenting at an early age as raised ill-defined lesions with a red-blue hue mainly involving the skin and soft tissues in the extremities. Cases in adults remain extremely rare. Herein, we describe the case of a 29 year-old man who presented with progressive abdominal pain for 4 months and signs of obstipation found to be consistent with small bowel volvulus. The patient underwent exploratory laparotomy and resection of 55 cm of necrotic small bowel followed by enteroenterostomy and anastomosis. Microscopic examination revealed KHE involving small intestinal mesentery, muscularis propria, and submucosa. His recovery was uneventful and he was discharged after stabilization, opting to manage him expectantly with abdominopelvic imaging and to monitor for development of Kasabach-Merritt phenomenon. To our knowledge, this represents the first reported case of this entity presenting as intestinal obstruction in an adult for which we also present a review of the existing literature and possible treatment options.
Atypical perigraft seroma masquerading as a forearm tumor in a dialysis patient
Authors: Samer Abdel Al, Mohamad K Abou Chaar, Wafa Asha, Riyad T Ellati, Riad Abdeljalil, Ayman Bitar, Muhamad Al-Qawasmi, Maysoun Hajir, Salam Elfarr
Journal: Qatar Med J (2022)
Keywords: perigraft seroma, and dialysis, case report, soft tissue tumor

Background:
An extremely rare manifestation of perigraft seroma (PGS), in which a dense, semisolid jelly-like mass had formed around the shunt instead of the standard fluid-like form of the usual seroma, leading to misdiagnosis with other entities, such as tumors around the synthetic arterio-venous shunt (AVS) was presented.
Case report:
A 64-year-old male with multiple myeloma post autologous bone marrow transplant with a renal impairment, presented with a rare form of PGS, which was noticed 2 months after placing a synthetic AVS vascular graft. The mass increased in size, and multiple attempts for excision failed due to recurrence, which led to tumor misdiagnosis. The mass reoccurrence stopped completely only after the radical shunt removal.
Conclusion:
This case report revealed a rare form of PGS, in which the seroma was represented as a firm, semisolid jelly-like mass rather than the typical fluid type transudate seroma. Despite its rarity, it was associated with a high recurrence rate because unlike the standard perishunt seroma, this semisolid jelly-like material could neither be aspirated, nor could it be resected en-bloc, leading to shunting dysfunction. Its management included advanced imaging and a high probability of shunt removal or replacement.
Metastasis from scapular Ewing's sarcoma presenting as sutural diastasis: An unusual presentation
Authors: Naiyer Asif, Abdul Qayyum Khan, Yasir Salam Siddiqui, Hamid Mustafa
Journal: Int J Shoulder Surg (2010)
Keywords: ewing’s sarcoma, non-osteogenic, skull vault, sutural diastasis
MeSH terms: Case Reports

Ewing's sarcoma is a malignant non-osteogenic primary tumor of the bone. It is one of the most common primary malignant tumors of bone. Peak incidence is noticed in second decade of life with male preponderance of 1.6:1. It occurs most frequently in long bones and flat bones of pelvic girdles. In 30% cases, Ewing's sarcoma is multicentric in origin. In 14-50%, multiple metastases are present at the time of diagnosis. CNS spread is rare and isolated CNS involvement is not seen. Skull metastasis of Ewing's sarcoma is not rare compared to primary Ewing's sarcoma of the skull, but the actual frequency is unknown. We wish to report a case of "Primary Ewing's sarcoma of scapula with metastasis to Skull Vault in a Child resulting in sutural diastasis" diagnosed by clinicoradiological examination and confirmed by histopathology.
Disseminated Coccidioidomycosis Following COVID-19 Mimicking Metastatic Thoracic Relapse of Well-Differentiated Liposarcoma: A Case Report
Authors: Elise F Nassif, Nolan Maloney, Anthony P Conley, Emily Z Keung
Journal: Front Med (Lausanne) (2021)
Keywords: covid 19, coccidioidomycosis, lymphopenia, metastasis, sarcoma
MeSH terms: Case Reports

Introduction: COVID-19 is associated with immune dysregulation which may increase susceptibility to atypical infectious diseases, particularly in the vulnerable cancer patient population. Coccidioidomycosis is an endemic fungal infection which presents with mild-to-moderate pneumonia in most cases. Case Presentation: The presented case is a 67-year-old woman living in the southwestern United States who is under close observation for well-differentiated liposarcoma of the abdominal wall. She presented with persistent cough and fatigue following COVID-19 infection. Imaging revealed new pulmonary nodules, a chest wall mass and bone lesions. The imaging appearance of these lesions was consistent with metastatic disease, although distant metastasis is not typical in well-differentiated liposarcoma. Biopsy of the chest wall mass revealed granulomatous fungal infection and serology was positive for coccidioidomycosis. At the time of diagnosis, the patient was lymphopenic, possibly a sequela of recent COVID-19 infection and which may have contributed to the development of her atypical disseminated form of coccidioidomycosis. Patient was treated with fluconazole for the coccidioidomycosis and continued observation for mild progression of the liposarcoma. On follow-up imaging, the chest wall mass and lung nodules have decreased in size and the patient remains on antifungal treatment. There has been no further increase in the liposarcoma mass. Conclusion: COVID-19 may be associated with increased risk of atypical forms of infectious diseases in cancer patients, which physicians should be aware of before giving systemic treatments for cancer. In endemic regions, co-infection by coccidioidomycosis should be suspected in cases of persistent symptoms after COVID-19 infection.