OpenMed/multicare-articles huggingface dataset:
Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome
Authors: Yajie Su, Hui Zhang, Huijun Wang, Bingbing Wu, Jiao Yang, Wenhao Zhou, Long Li
Journal: Front Pediatr (2021)
Keywords: megdel syndrome, satb2-associated syndrome, follow-up, next-generation sequencing, phenotype
MeSH terms: Case Reports

MEGDEL syndrome and SATB2-associated syndrome (SAS) are both rare congenital disorders with poor prognoses caused by gene mutations. We present the case of a 2-day-old girl with an unexplained abnormal liver function, feeding problem, and dystonia. Using next-generation sequencing, we identified two novel mutations in SERAC1 and a mutation in SATB2. Now, she is 15 months old and has the characteristics of SAS, such as downslanting palpebral fissures and delayed primary dentition. Besides the typical phenotypes of MEGDEL syndrome, such as hypertonia, failure to thrive, deafness, and motor regression, she has progressive cholestasis and is prone to high serum lactate after rehabilitation training and hypoglycemia with low ketone under starving conditions. These phenotypes substantially differ from the transient liver function abnormalities and hypoglycemia reported in the literature.
Leukocyte Derived Chemotaxin 2 (ALECT2) Amyloidosis
Authors: Uday Kulkarni, Anna Valson, Anila Korula, Vikram Mathews
Journal: Mediterr J Hematol Infect Dis (2015)
MeSH terms: Case Reports

We describe the first case from India of ALECT2 amyloidosis. An adult Punjabi male presented with progressive renal dysfunction and non-nephrotic range proteinuria. Serum protein electrophoresis and immunofixation were normal, with mildly elevated serum free light chain ratio. A renal biopsy confirmed the presence of amyloid. Immunohistochemistry was negative for monoclonal light chains. Proteomic analysis confirmed the presence of ALECT2 amyloid. The present case highlights the need for confirmatory testing for typing of amyloid.
Primary pancreatic paraganglioma: a case report and literature review
Authors: Shengrong Lin, Long Peng, Song Huang, Yong Li, Weidong Xiao
Journal: World J Surg Oncol (2016)
MeSH terms: Pancreatic Neoplasms / diagnosis, Paraganglioma / diagnosis, Case Reports, Review, Adult, Female, Humans, Pancreatectomy, Pancreatic Neoplasms / surgery, Paraganglioma / surgery

Backgroud:
Primary pancreatic paraganglioma is an extremely rare extra-adrenal paraganglioma.
Case presentation:
We report a case of primary pancreatic paraganglioma undergoing middle segment pancreatectomy in a 42-year-old woman. Histological examination showed that the tumor was composed of well-defined nests of cuboidal cells separated by vascular fibrous septa, forming the classic Zellballen pattern. The chief cells showed positive staining to neuron-specific enolase, chromogranin A, synaptophysin, and the chief cells were surrounded by S-100 protein-positive sustentacular cells. The patient has remained tumor free for 12 months after surgery. A brief discussion about the histopathological features, clinical behavior, and treatment of primary pancreatic paraganglioma, and review of the relevant literature is presented.
Conclusions:
Primary pancreatic paraganglioma is a rare clinical entity, its diagnosis mainly depends on histopathological and immunohistochemical examinations. Complete surgical resection is the first choice of treatment and close postoperative follow-up is necessnary.
Two Techniques of Tonsillectomy Performed in Identical Twins: A Case Report
Authors: Ali Bagherihagh, Seyed Mousa Sadr Hossein
Journal: Iran J Otorhinolaryngol (2017)
Keywords: cautery, dissection, tonsillectomy, twins
MeSH terms: Case Reports

Introduction:
Cold dissection (CD) and bipolar cautery dissection (BCD) techniques are two common surgical tonsillectomy procedures used in the clinic. Obstruction has become more prevalent as the major surgical indication and is most prominently observed in younger children.
Case report:
In this report, we aimed to explain the abovementioned surgical techniques in detail and compare the results in identical twins (monozygote twins). Using low energy electrocautery, irrigating the operation site continuously during cauterization, avoiding unnecessary sutures, and direct cautery to the tonsil bed are all effective measures that have diminished post-op pain in bipolar electrocautery dissection, compared to cold dissection tonsillectomy.
Conclusion:
Bipolar cautery dissection with some modification is very good alternative for tonsillar surgery.
Large mucocele of the appendix at laparoscopy presenting as an adnexal mass in a postmenopausal woman: a case report
Authors: Elvira Paladino, Maria Bellantone, Francesca Conway, Francesco Sesti, Emilio Piccione, Adalgisa Pietropolli
Journal: Case Rep Obstet Gynecol (2014)

A 79-year-old female was referred to our Gynecologic Department presenting with a pelvic magnetic resonance imaging (MRI), showing an adnexal mass, later confirmed at the pelvic examination. The patient's routine laboratory tests were normal. A sonographic examination was performed with inconclusive results. Although the ultrasonography excluded the presence of vascularization and malignant degeneration, the adnexal localization appeared to be dubious. The laparoscopy and the subsequent histologic examination revealed the presence of a mucocele of the appendix. The following case report focuses the attention on a misdiagnosis of appendiceal mucocele. The misdiagnosis caused no negative impact on the treatment that in this case was adequate and successful.
Tattoo-induced psoriasis
Authors: O A Orzan, L G Popa, E S Vexler, I Olaru, V M Voiculescu, R S Bumbăcea
Journal: J Med Life (2014)
Keywords: koebner phenomenon, isomorphic phenomenon, koebnerization, psoriatic lesions, tattoos
MeSH terms: Psoriasis / etiology, Tattooing / adverse effects, Case Reports, Adult, Humans, Male, Psoriasis / pathology, Skin / pathology

Koebner phenomenon represents the development of several inflammatory skin lesions (psoriasis, lichen planus, vitiligo, etc.) in uninvolved skin following various traumatic insults. The case of a 27-year-old male patient with scalp psoriasis who was referred to our clinic for generalized psoriatic lesions developed two weeks after tattooing his skin at the age of 18 was presented; the case illustrated the possibility of Koebner phenomenon induced by skin tattooing in patients with psoriasis.
Using the Flexor Reflex in a Chronic Stroke Patient for Gait Improvement: A Case Report
Authors: Christian Salzmann, Aida Sehle, Joachim Liepert
Journal: Front Neurol (2021)
Keywords: flexor reflex, gait, kinematic analysis, stroke, training
MeSH terms: Case Reports

The flexor reflex or withdrawal reflex can be elicited by electrical stimulation of the sole of the foot, which serves as a reflex to protect the stimulated limb against tissue damage and consists of flexion movements in the hip, knee, and ankle joint. Triggering this reflex might improve walking abilities in hemiparetic patients. We report the first case of a chronic stroke patient with the most severe impairment of walking. She was examined with and without flexor reflex activation by the Incedo® system. Tests included a 10-m walk and a 2-min walk at baseline, after 3 weeks of training with the Incedo® system and after a follow-up 3 weeks later. Moreover, a kinematic gait analysis was done before and after the training period. At baseline, activation of the flexor reflex induced an improved gait velocity. After the training period, the patient walked twice as fast compared with baseline. Her gait velocity without Incedo® was faster than the gait velocity with Incedo® at baseline. Examination at follow-up indicated that the improvements remained almost unchanged. The kinematic analysis showed an improved stride length and gait velocity during flexor reflex activation. Initially, the foot was elevated higher above the ground during flexor reflex activation. In conclusion, this first case report of a chronic stroke patient demonstrates that flexor reflex activation is feasible and improves gait parameters despite severe impairment of walking abilities.
Acute Mesenteric Ischemia in a COVID-19 Patient: Delay in Referral and Recommendation for Surgery
Authors: Mohammad Hossein Bagheripour, Mohammad Ali Zakeri
Journal: Case Rep Gastrointest Med (2021)
MeSH terms: Case Reports

Coronavirus (COVID-19) is more common with symptoms such as fever, dry cough, and shortness of breath. However, it may be associated with COVID-19-induced gastrointestinal (GI) symptoms including acute mesenteric ischemia (AMI). These conditions make the diagnosis of AMI challenging. Timely referral with correct diagnosis and attention to the uncommon symptoms of COVID-19 can play an important role in the management and treatment of AMI in COVID-19 patients. We present a patient with AMI due to thrombotic complications of COVID-19, who referred to the hospital too late and ignored the recommendation for abdominal surgery.
Verrucous plane xanthomas secondary to lipoprotein X dyslipidemia in the context of cholestatic fulminant hepatitis: A case report
Authors: Julie Dang, Darosa Lim, Kevin Watters, Olivier Simard, Karine Doyon, Maxime Rhéaume, Alexandra Mereniuk
Journal: SAGE Open Med Case Rep (2021)
Keywords: xanthoma, apheresis, cholestasis, dyslipidemia, lipoprotein x
MeSH terms: Case Reports

Cutaneous xanthomas are the result of dermal deposition of lipid, mostly caused by disorders of lipid metabolism. Less commonly, they occur in the setting of cholestatic liver disease, leading to accumulation of lipoprotein X, a rare form of dyslipidemia that does not respond well to conventional treatments. We describe an atypical presentation of sudden diffuse xanthomas secondary to lipoprotein X dyslipidemia in the context of cholestatic fulminant hepatitis caused by trimethoprim-sulfamethoxazole hypersensitivity. Histopathology was also atypical and showed an unusual verrucous appearance consisting of overlying epidermal hyperplasia with hyperkeratosis. Our patient had significant improvement, after normalization of her lipid panel under cholestyramine and 13 sessions of apheresis, with topical corticosteroids offering some relief. This rare case shows the importance of recognizing atypical presentations of xanthomas, particularly when they do not respond to conventional dyslipidemia treatments.
Cellular angiofibroma of the vulva: a poorly known entity, a case report and literature review
Authors: Mouna Khmou, Najat Lamalmi, Abderrahmane Malihy, Lamia Rouas, Zaitouna Alhamany
Journal: BMC Clin Pathol (2016)
Keywords: cellular angiofibroma, histopathology, immunohistochemistry, mesenchymal tumors, vulva
MeSH terms: Case Reports

Background:
Cellular angiofibroma represents a newly described, site specific tumor. Histologically, CAF is a benign mesenchymal neoplasm characterized by two principal components: bland spindle cells and prominent small to medium-sized vessels with mural hyalinization. The indolent nature of the lesion is underscored by the uniformity of its constituent stromal cells, and their lack of nuclear atypia. Characterization by immunohistochemistry is helpful distinguishing Cellular angiofibroma from other mesenchymal lesions.
Case presentation:
We report the case of a 37-year-old woman, presenting with a painless nodule involving the vulva. This lesion had gradually increased in size; a simple excision was performed, and follow up was unremarkable. Gross examination showed a well circumscribed, firm tumor measuring 3× 3 × 2,5 cm. Histologically, the tumor was composed of uniform, short spindle-shaped cells, proliferating in an edematous to fibrous stroma and numerous small to medium-sized thick-walled vessels. A panel of immunohistochemical stains was performed, and confirmed the diagnosis of Cellular angiofibroma.
Conclusion:
In this report we aim to describe the clinical, pathological and immunohistochemical features of this rare entity through a literature review, and to discuss other vulvar mesenchymal lesions.
Massive iliopsoas haematoma during the course of COVID-19 pneumonia
Authors: Hiroaki Nagano, Sara Takaesu
Journal: Respirol Case Rep (2022)
Keywords: covid‐19, bleeding, haemorrhagic complication, heparin, iliopsoas haematoma
MeSH terms: Case Reports

This report presents a case of life-threatening iliopsoas haematoma in an immunosuppressed 86-year-old man with a history of prostate cancer during the clinical course of coronavirus disease 2019 (COVID-19). The patient was hospitalized for COVID-19-associated pneumonia. One week after admission, he complained of pain in his right thigh when he changed his position. Laboratory findings revealed markedly progressive anaemia and elevated creatine phosphokinase levels. Chest computed tomography revealed a massive haematoma in the right iliopsoas muscle spreading to the retroperitoneal space. Considering the advanced age and status of the patient, he was treated with red blood cell transfusions and bed rest. Fortunately, the anaemia was improved, and the haematoma gradually reduced in size. It should be noted that even during isolation, careful physical examination is important. In addition, physicians who administer heparin to patients with COVID-19, even if prophylactic, should be aware of bleeding complications.
Angiosarcoma Developing in an Arteriovenous Fistula after Kidney Transplantation
Authors: Bruna Natacha Leite Costa, Constantino Fernández Rivera, Maria Calvo Rodríguez, Teresa Hermida Romero, Andrés López Muñiz, Tamara Ferreiro Hermida, Felipe Sacristán Lista, Pilar Iglesias Díaz, Ángel Alonso Hernández
Journal: Case Rep Transplant (2017)
MeSH terms: Case Reports

After transplantation, the main concerns involve immunosuppression, the prevention and treatment of infections and graft rejection, and tumor prevention. Sometimes the complications that may appear in the arteriovenous fistula are neglected following kidney transplantation. This is the reason why we are presenting the case of an angiosarcoma developing in an arteriovenous fistula after kidney transplantation. It is a very rare case and our goal is to create an alarm so that after kidney transplantation clinicians do not lose sight of the patients' previous history.
Premature birth with complicated perinatal course delaying diagnosis of prader-willi syndrome
Authors: G Ciana, M C Fertz, V Pecile, S Demarini
Journal: Case Rep Pediatr (2011)
MeSH terms: Case Reports

Prader-Willi syndrome in the newborn is essentially characterized by marked hypotonia, feeding difficulties, hypogonadism, and possible characteristic facial features. However, diagnosis at this age may be particularly difficult, and dysmorphic features may be subtle or absent. Prematurity can furthermore delay clinical features recognition and typical complications due to preterm birth may contribute to divert the diagnosis. We describe a preterm baby with a complicated perinatal course later diagnosed as PWS.
Degos disease with multiple intestinal perforations: A missed-opportunity case report and literature review
Authors: Wen Ai, Zhihua Liang, Feng Li, Haihua Yu
Journal: Front Cardiovasc Med (2022)
Keywords: degos disease, case report, intestinal perforations, malignant atrophic papulosis, skin eruption
MeSH terms: Case Reports

Introduction:
Degos disease, also known as malignant atrophic papulosis (MAP), is a rare systemic obstructive vascular disease with unknown pathophysiology, which can affect multiple systems, especially gastrointestinal tract and central nervous system. Intestinal perforations with MAP is associated with high mortality rate and ambiguous treatment outcomes.
Case presentation:
Here we report a missed-opportunity case of Degos disease characterized by generalized skin eruption and multiple intestinal perforations. Definite diagnosis of Degos disease was finally concluded after two exploratory laparotomy operations and skin biopsies. Due to the delayed diagnosis and treatment, the patient died after being discharged automatically in spite of application of aspirin and low-dose subcutaneous heparin. In view of such circumstances, we searched the Pubmed using "Degos [Title] OR Malignant Atrophic Papulosis [Title]" AND "perforation [Title] OR perforations [Title]" and make a detailed analysis of the result.
Conclusions:
Degos disease is a rare systemic obstructive vascular disease with unknown pathologic mechanism and unavailable treatment methods. Diagnosis is usually based on the presence of pathognomonic skin lesions and tissue biopsy. Gastrointestinal involvement can cause serious and lethal conditions with high mortality. Currently, how to achieve a satisfying prognosis of MAP with intestinal perforations becomes the most urgent problem in front of medical staff.
Cochlear Ossification in a Patient with Cogan's Syndrome Undergoing Bilateral Cochlear Implantation
Authors: Adam M Cassis
Journal: Case Rep Otolaryngol (2018)
MeSH terms: Case Reports

We present the case of a young female patient diagnosed with Cogan's syndrome after the rapid onset of profond hearing and vestibular loss with concomitant eye symptoms. After appropriate medical treatment, her hearing did not respond and she underwent bilateral simultaneous cochlear implantation with findings of extensive cochlear ossification in both ears. The case and outcome are described in the body of the paper.
Atypical Presentation of Multiple Foreign Body Ingestion
Authors: Emrah Aydın, Sultan Bent, Burak Ayan
Journal: APSP J Case Rep (2017)
Keywords: children, foreign body, intestinal perforation, pica syndrome
MeSH terms: Case Reports

Foreign body ingestion is very common in childhood especially under 3 year of age. Pica syndrome is characterized by an appetite for substances that are largely non-nutritive. We present a 3-year old girl who presented to ER with symptoms and signs of intestinal obstruction.
Detection of branch retinal artery occlusions in Susac's syndrome
Authors: Stavroula Boukouvala, Saiju Jacob, Mark Lane, Alastair K Denniston, Michael A Burdon
Journal: BMC Res Notes (2014)
MeSH terms: Retinal Artery Occlusion / diagnosis, Susac Syndrome / complications, Case Reports, Adult, Corpus Callosum / pathology, Cyclophosphamide / therapeutic use, Drug Therapy, Combination, Female, Fluorescein Angiography, Headache / etiology, Hearing Loss, Central / etiology, Humans, Immunosuppressive Agents / therapeutic use, Magnetic Resonance Imaging, Memory Disorders / etiology, Methylprednisolone / therapeutic use, Ophthalmoscopy, Retinal Artery Occlusion / etiology, Susac Syndrome / diagnosis, Susac Syndrome / drug therapy, Susac Syndrome / immunology, Vertigo / etiology, Immunosuppressive Agents, Cyclophosphamide, Methylprednisolone

Background:
We report an interesting case of asymptomatic retinal involvement in an encephalopathic patient enabling early identification of Susac's syndrome.
Case presentation:
A 39-year-old Caucasian lady with hearing loss and encephalopathy was referred for ophthalmic assessment, including screening for branch retinal artery occlusions characteristic of Susac's syndrome. Clinical features included severe headaches, right-sided hypoacusis, dysphasia and poor memory. Routine blood tests were normal. MRI brain showed numerous hyperintense lesions mainly in corpus callosum. Although she was visually asymptomatic, dilated funduscopy detected bilateral multiple peripheral branch retinal artery occlusions which were confirmed on fluorescein angiography. She was subsequently started on intravenous steroids and pulsed cyclophosphamide which improved her symptoms within 48 hours. Full recovery was made with no new arterial occlusions on four months follow-up.
Conclusion:
The case further establishes the crucial role of a detailed ophthalmic examination supported by fluorescein angiography in the assessment of these patients, who are at risk of being misdiagnosed and undertreated.
A case report of metastatic adenocarcinoma of the gingiva
Authors: Aravind Buddula
Journal: J Indian Soc Periodontol (2009)
Keywords: adenocarcinoma, gingival enlargement, metastasis
MeSH terms: Case Reports

Localized gingival enlargement is often associated with specific systemic medication, abscess formation, trauma or reactive lesions. Scant literature is available reporting enlargement of gingiva due the metastasis of adenocarcinoma from lung. The case report presents a unique case of an adenocarcinoma in the lung metastasizing to the buccal and lingual interdental papillae of teeth numbering 34 and 35. A 72-year-old female was referred to the Mayo Clinic with a recent diagnosis of metastatic stage IV adenocarcinoma of the left lung presented with an abnormal mass located on the left posterior buccal keratinized tissue adjacent to teeth numbering 34-35. Biopsy of the lesion was performed for CK7, CK20, TTF-1 and p63. The tumor cells were positive for CK7 and TTF-1, and weakly positive for p63 suggesting a diagnosis of adenocarcinoma. The periodontist may be in the unique position to be the first oral health care provider to evaluate any biopsy suspicious intra-oral lesions.
Case Report of an Obstructive Hydrocephalus Caused by an Unruptured Mesencephalic Arteriovenous Malformation in a Boy and a Review of Literature
Authors: Furkan Diren, Serra Sencer, Tayfun Hakan
Journal: Open Neuroimag J (2018)
Keywords: aqueduct, arteriovenous malformation, digital subtraction angiography, hydrocephalus, mesencephalon, ventriculoperitoneal shunt
MeSH terms: Case Reports

Objective:
Arteriovenous malformation (AVM) is the most common form of intracranial vascular malformations in adults. Intracranial pediatric AVMs are rare. AVM located in the vicinity of the brain stem in children are even more rare.
Case report:
This study reports a rare case of acute obstructive hydrocephalus following aqueductal stenosis caused by an unruptured grade IV perimesencephalic arteriovenous malformation. An 11-year-old boy admitted to the hospital with progressive headache, nausea and vomiting throughout a month. A Computerized Tomography (CT) showed an obstructive hydrocephaly. A Magnetic Resonance (MR) imaging revealed a mesencephalic AVM compressing the aqueduct. The patient deteriorated in hours and an emergency ventriculoperitoneal shunting was performed. He did well in the early postoperative period. AVM examined with Digital Subtraction Angiography (DSA) in detail for maintaining the definitive treatment by means of endovascular embolization, microsurgery and stereotactic radiosurgery; but the patient was lost to follow up.
Conclusion:
A Pubmed search revealed 34 cases of hydrocephalus caused by an unruptured AVM in the literature, and only four cases were less than 18 years old with unruptured AVM locating in brain stem or posterior fossa. Although focal neurologic deficit, seizure and headache are the most common symptoms, acute neurologic deterioration due to hydrocephalus may be the presenting symptom in these cases. The decrease in intracranial pressure by changing the flow of cerebrospinal fluid (CSF) via an emergency ventriculoperitoneal (VP) shunting or Endoscopic Third Ventriculostomy (ETV) can be a lifesaving procedure that gives a chance for further treatment modalities.