OpenMed/multicare-articles huggingface dataset:
Necrotizing fasciitis in a pediatric patient caused by lancefield group g streptococcus: case report and brief review of the literature
Authors: John Rausch, Marc Foca
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

We report a case of necrotizing fasciitis with an accompanying toxic shock syndrome caused by Group G Streptococcus in a pediatric patient with a lymphatic malformation. Pediatricians need to be aware of the possibility of such infections, especially in those with vascular/lymphatic malformations, as early treatment is critical for survival.
Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?
Authors: Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca
Journal: Case Rep Hematol (2011)
MeSH terms: Case Reports

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and developed a T-cell lymphoma so far never described in this group of patients.
Primary Candida guilliermondii Infection of the Knee in a Patient without Predisposing Factors
Authors: Gun Woo Lee, Tae-Hun Kim, Jung-Hwan Son
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Isolated primary candidal infection of joint is extremely rare, with only a few reported cases. It occurs as a result of accidental implantations of fungus during traumatic procedures, such as surgery, and is usually reported in patients with predisposing factors such as immunosuppression, malignancy, and drug abuse. If left untreated, irreversible deformity and pain with severe osteoarticular destruction occur. Thus, early diagnosis and treatment are important. This paper presents a case of 72-year-old man with primary C. guilliermondii infection of knee joint without predisposing factors and previous traumatic procedures, who was misdiagnosed with advanced degenerative osteoarthritis. Our case is the second case of primary C. guilliermondii arthritis of knee to be reported in the English-language literature and the first to be successfully treated with total knee arthroplasty following IV amphotericin B and oral fluconazole. Primary candidal infection of joint is generally asymptomatic or involves only mild pain and swelling in the affected knee. Thus, although the majority of knee joint infections are of a pyogenic or tuberculous origin, if a patient complains of mild pain and swelling in the knee and has mild signs of infection, the possibility of fungal infection should be considered.
Case report: Rare among ultrarare-Clinical odyssey of a new patient with Ogden syndrome
Authors: Jagoda Hofman, Michal Hutny, Karolina Chwialkowska, Urszula Korotko, Karolina Loranc, Anna Kruk, Urszula Lechowicz, Adriana Rozy, Pawel Gajdanowicz, Miroslaw Kwasniewski, Malgorzata Krajewska-Walasek, Justyna Paprocka, Aleksandra Jezela-Stanek
Journal: Front Genet (2022)
Keywords: naa10 gene, ogden syndrome, feeding difficulties, progeroid appearance, pulmonary infections
MeSH terms: Case Reports

Introduction: The definition of ultra-rare disease in terms of its prevalence varies between the sources, usually amounting to ca. 1 in 1.000.000 births. Nonetheless, there are even less frequent disorders, such as Ogden syndrome, which up to this day was diagnosed in less than 10 patients worldwide. They present typically with a variety of developmental defects, including postnatal growth retardation, psychomotor delay and hypotonia. This disorder is caused by the heterozygous mutations in NAA10 gene, which encodes N-alpha-acetyltransferase 10, involved in protein biosynthesis. Therefore, Ogden syndrome belongs to the broader group of genetic disorders, collectively described as NAA10-related syndrome. Case report: We present a case of a Polish male infant, born in 39. GW with c-section due to the pathological cardiotocography signal. Hypotrophy (2400 g) and facial dysmorphism were noted in the physical examination. From the first minute, the child required mechanical ventilation - a nasal continuous positive airway pressure. For the first 27 days, the patient was treated in a neonatal intensive care unit, where a series of examinations were conducted. On their basis, the presence of the following defects was determined: muscular ventricular septal defects, patent foramen ovale, pectus excavatum, clubfoot and axial hypotonia. Child was then consequently referred to the genetic clinic for counselling. Results of the tests allowed the diagnosis of Ogden syndrome. In the following months the patient's condition worsened due to the numerous pulmonary infections. Despite the advanced treatment including the variety of medications, the patient eventually died at the age of 10 months. Conclusion: This case report presents a tenth patient diagnosed with Ogden syndrome reported worldwide. It expands the morphologic and clinical phenotype, emphasizing the possible severity of pneumonological disorders in these patients, which may pose a greater threat to a child's life than more frequently described cardiovascular dysfunctions associated with this syndrome.
Localized Fournier's Gangrene in "End-Stage" Renal Failure: Multidisciplinary Approach and Integration of Palliative Care
Authors: M Voordeckers, J Noels, M Brognet, M T Salaouatchi, M Mesquita
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Presentation of the Case. Penile gangrene is a rare entity with significant morbidity and mortality. There are only few case reports of isolated penile Fournier's gangrene in literature. Its rare occurrence, associated with complex and serious comorbidity, poses a major challenge to the attending medical personnel. A 53-year-old Caucasian patient with poorly controlled diabetes, progressive renal insufficiency, and multiple vascular complications presented with progressive necrosis of the penis (localized Fournier's gangrene). Discussion. Fournier's gangrene or necrotizing fasciitis refers to any synergistic necrotizing infection of the external genitalia or perineum and is a hallmark of severe systemic vascular disease. Fournier's gangrene is an absolute emergency because the time interval between diagnosis and treatment significantly influences morbidity and mortality. Despite aggressive management, the estimated mortality rates range from 57 to 71%. Conclusions. Improved integration of palliative care services into the care of such patients is important to improve end-of-life care even though they do not have a malignant disease. The "Palliative Care Indicator Tool" can help identifying people at risk of deteriorating health and is important to improve end-of-life care.
Giant fibrovascular polyp in the hypopharynx: a case report and review of the literature
Authors: Mineko Oka, Rumi Ueha, Takaharu Nito, Tatsuya Yamasoba
Journal: Springerplus (2016)
Keywords: airway management, dyspnea, fibrovascular polyp, hypopharynx, surgical treatment

Introduction:
Fibrovascular polyps (FVPs) are benign tumors that commonly occur in the cervical esophagus. Few cases of FVPs of the hypopharynx have been reported, but there has been no English review concerning hypopharyngeal FVPs (hFVPs). Here, we report a case of a vast hFVP, and we also review 13 hFVP cases found in the English literature (PubMed search) including our case.
Case description:
A 41-year-old man with respiratory distress and regurgitation of a mass was referred to our hospital. Endoscopic and radiographic evaluations were required for diagnosis. The tumor originated from the hypopharynx and covered almost the entire larynx, which caused the airway to narrow. An emergency surgical removal was performed under general anesthesia with orotracheal intubation, and the tumor was completely removed transorally using a laryngeal endoscope. Pathological examination revealed that the mass was a FVP.
Discussion and evaluation:
We investigated patient characteristics, symptoms, polyp size, treatments, and recurrence of 13 hFVP cases. Regurgitation of a mass, dyspnea, and dysphagia were frequently reported symptoms at presentation. All patients were treated by surgical excision with no recurrence. Airway management is critical and tracheotomies were needed in some cases.
Conclusions:
FVPs are often asymptomatic, and they can suddenly cause respiratory distress from laryngeal blockage. Therefore, we emphasize that when such cases are encountered, airway management and surgical treatment should be considered as early as possible.
Malignant Glioma in the Cerebellum Presenting as Multiple Small Lesions
Authors: Takashi Mamiya, Shinji Shimato, Toshihisa Nishizawa, Takashi Yamanouchi, Kojiro Ishikawa, Makoto Ito, Masato Abe, Kyozo Kato
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Malignant glioma, the most common malignant primary brain tumor in adults, usually occurs in supratentorial space as a single mass lesion, and cerebellar location and multiple appearance are uncommon. We report a case of a 69-year-old female with three lesions simultaneously found in the cerebellum on magnetic resonance images (MRIs) after suffering from gait disturbance. Two lesions were around 15 mm in size and the other one was observed as a spotty enhancement. Although MRI findings suggested brain metastases, whole body examinations denied any primary malignancies. Biopsy for one lesion in the cerebellum was performed, which resulted in pathological diagnosis of malignant astrocytoma. The lesions were considered multicentric glioma based on MRI definition. The treatment with temozolomide and whole brain radiation was completed. Although the patient was discharged in an independent state with the shrinkage of the tumors, she unexpectedly died following sudden loss of consciousness from an unknown cause one month after discharge. The coincidence of cerebellar location and multicentricity characterized by smallness is quite rare in glioma patients, and such MRI findings might be misleading for the diagnosis. We describe the details of the case and discuss the pathogenesis of this unique presentation of malignant glioma with the literatures.
Pediatric hepatocellular carcinoma associated with Niemann-Pick disease type C: Case report and literature review
Authors: Soojin Hwang, Yunha Choi, Beom Hee Lee, Jin-Ho Choi, Ja Hye Kim, Han-Wook Yoo
Journal: JIMD Rep (2022)
Keywords: npc1, niemann–pick disease type c, hepatocellular carcinoma, hypoglycemia
MeSH terms: Case Reports

Niemann-Pick disease type C (NPC) is a rare, autosomal recessive, lysosomal storage disease, resulting from mutations in the cholesterol trafficking proteins NPC1 or NPC2, which is characterized by progressive neurodegeneration and hepatic dysfunction. The hepatic involvement in NPC is usually neonatal cholestasis and hepatosplenomegaly. Only a few cases of severe hepatic complications were reported including acute liver failure, cirrhosis, and hepatocellular carcinoma (HCC). We described the case of a 6-year-old male with NPC with HCC. He had a history of neonatal cholestasis and motor delay. At the age of 6 months, he was diagnosed with NPC, which was confirmed by the detection of a compound heterozygous NPC1 mutation (p.C113Y/p.A927V). He presented recurrent hypoglycemia and abdominal distension. An ultrasound, computed tomography scan, and biopsy revealed that he had a stage IV HCC with pulmonary metastasis. With the literature review and this case, HCC can be a rare fatal comorbid condition in patients with NPC, particularly infantile-onset, male patients with a relatively long disease history, necessitating appropriate HCC surveillance.
Direct puncture embolisation of the non-coil-embolised internal iliac artery post EVAR - a novel use of the Angio-Seal closure device
Authors: Prashant Ravindran Menon, Sanjay Agarwal, Owen Rees
Journal: CVIR Endovasc (2018)
Keywords: angioseal, aortic interventions, internal iliac artery coiling pre evar, type ii endoleak

Background:
Coil embolisation of the internal iliac arteries prior to EVAR is considered standard treatment to prevent a type 2 endoleak when extending an iliac limb into the EIA. Type 2 endoleaks that arise from a non-coil-embolised internal iliac artery can be challenging to treat due to difficult access.
Case presentation:
We present a case of a type 2 endoleak from the internal iliac artery that was not coiled prior to EVAR. This was treated with retrograde embolisation of the internal iliac artery via direct puncture of a branch from the buttock and closure of the arteriotomy was achieved using an Angio-Seal (Terumo) device that was deployed in an off-label manner to allow visualisation.
Conclusion:
This is a viable technique for treating type 2 endoleaks when antegrade access to the internal iliac artery is lost due to the presence of the stent graft and the arteriotomy can be safely closed with an Angio-Seal.
Familial Acromegaly and Bilateral Asynchronous Pheochromocytomas in a Female Patient With a MAX Mutation: A Case Report
Authors: Elizaveta Mamedova, Evgeny Vasilyev, Vasily Petrov, Svetlana Buryakina, Anatoly Tiulpakov, Zhanna Belaya
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: max, acromegaly, case report, familial pituitary adenomas, pheochromocytoma
MeSH terms: Acromegaly / genetics, Adrenal Gland Neoplasms / genetics, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / genetics, Pheochromocytoma / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Mutation, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MAX protein, human

Background:
There are very few cases of co-occurring pituitary adenoma (PA) and pheochromocytomas (PCC)/paragangliomas caused by MAX mutations. No cases of familial PA in patients with MAX mutations have been described to date.
Case presentation:
We describe a 38-year-old female patient, presenting with clinical and biochemical features of acromegaly and PCC of the left adrenal gland. Whole-exome sequencing was performed [NextSeq550 (Illumina, San Diego, CA, USA)] identifying a nonsense mutation in the MAX gene (NM_002382) [c.223C>T (p.R75X)]. The patient had a medical history of PCC of the right adrenal gland diagnosed aged 21 years and prolactinoma diagnosed aged 25 years. Cabergoline treatment was effective in achieving remission of prolactinoma at age 33 years. The patient's father who died at age 56 years of a heart attack had a medical history of PA and prominent acromegalic features, which supports the familial presentation of the disease.
Conclusion:
This clinical case gives an insight into the clinical presentation of familial PA and PCC probably associated with a MAX mutation.
Anaphylaxis to clindamycin following cutaneous exposure
Authors: N Paradis, L Marois, L Paradis, F Graham, P Bégin, A Des Roches
Journal: Allergy Asthma Clin Immunol (2020)
Keywords: antibiotic anaphylaxis, atopic dermatitis, transcutaneous exposition
MeSH terms: Case Reports

Background:
The role and importance of skin barrier as an immunologic organ and as a potent way of sensitization is well known. However, antibiotics anaphylaxis following skin sensitization has not been reported.
Case presentation:
We describe the first case of intravenous clindamycin anaphylaxis, with likely sensitization due to previous topical exposure to clindamycin gel for acne in a 14-year-old boy with history of atopy and mild atopic dermatitis.
Conclusion:
This case highlights the potential sensitization to drug allergens, including antibiotics, via the skin.
Erosion of the sella turcica and pituitary expansion secondary to polymicrobial brain abscesses: a case report
Authors: Brendan Ryu, Deepak Khatri, Avraham Zlochower, Stephen Maslak, Randy S D'Amico
Journal: Access Microbiol (2021)
Keywords: siadh, brain abscess, osteomyelitis, pituitary gland, sella turcica
MeSH terms: Case Reports

Introduction:
Brain abscesses can lead to a diverse array of complications, especially when they are polymicrobial in nature. Multiple underlying pathogens may present with a unique set of clinical symptoms which require an early identification and treatment. Skull base osteomyelitis with sellar floor erosion and pituitary involvement with SIADH are such rare complications of brain abscesses which have never been reported previously in the literature.
Case presentation:
We report the case of an immunocompetent 38-year-old male with altered mental sensorium and left hemiparesis due to polymicrobial brain abscess which required surgical evacuation. The post-operative recovery was complicated by severe hyponatremia secondary to SIADH which was treated uneventfully. Radiological imaging demonstrated pituitary enlargement with herniation through an eroded sella turcica without active CSF leak. Patient responded well to the antibiotic therapy based on microbiological susceptibility testing with a complete resolution of the pituitary enlargement on radiological follow-up.
Conclusion:
Conservative treatment with targeted antibiotics can lead to the resolution of pituitary enlargement secondary to a brain abscess. However, a close clinical follow-up is required to look for a CSF leak considering the sellar floor erosion due to osteomyelitis.
Topical Nitroglycerine for Neonatal Arterial Associated Peripheral Ischemia following Cannulation: A Case Report and Comprehensive Literature Review
Authors: Rafat Mosalli, Mohamed Elbaz, Bosco Paes
Journal: Case Rep Pediatr (2013)

Arterial cannulation in neonates is usually performed for frequent blood pressure monitoring and blood sampling. The procedure, while easily executed by skilled neonatal staff, can be associated with serious complications such as vasospasm, thrombosis, embolism, hematoma, infection, peripheral nerve damage, ischemia, and tissue necrosis. Several treatment options are available to reverse vascular induced ischemia and tissue damage. Applied interventions depend on the extent of tissue involvement and whether the condition is progressive and deemed life threatening. Standard, noninvasive measures include immediate catheter removal, limb elevation, and warming the contralateral extremity. Topical vasodilators, anticoagulation, thrombolysis, and surgery are considered secondary therapeutic strategies. A comprehensive literature search indicates that topical nitroglycerin has been utilized for the treatment of tissue ischemia in three preterms with umbilical arterial catheters and four with peripheral arterial lines. We report the first successful use of nitroglycerine ointment in a critically ill preterm infant with ischemic hand changes after brachial artery cannulation.
Castle man disease: a case report and review of the literature
Authors: Mounir Kettani, Nabil Touiheme, Hicham Attifi, Mounir Hmidi, Ali Boukhari, Mohamed Zalagh, Abdelhamid Messary
Journal: Pan Afr Med J (2014)
Keywords: angiofollicularlymphoid hyperplasia, angiomatous, cervical tumefaction, hamartoma, lymphoid, lymphoma
MeSH terms: Castleman Disease / physiopathology, Rare Diseases / physiopathology, Case Reports, Randomized Controlled Trial, Castleman Disease / drug therapy, Fatal Outcome, Glucocorticoids / therapeutic use, Humans, Male, Middle Aged, Rare Diseases / drug therapy, Referral and Consultation, Glucocorticoids

The Castleman disease (CD) is a rare disease of unknown etiology, characterized histologically by angiofollicular lymphoid hyperplasia. It comes in two forms, unicentric and multicentric. We report a case of Castleman disease in a 58 year old man, who had consulted for chronic cervical lymphadenopathy. This case was a multicenteric and rapidly fatal despite aggressive treatment with corticosteroids, and chemotherapy.
Synovial Sarcoma of the Hand
Authors: Hovsep Ohan, Greg Minassian, Asaad H Samra, Matthew J Zdilla
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

The incidence of synovial sarcoma is 1.548 per 1,000,000. Synovial sarcoma localized to the palmar surface should, therefore, be considered extremely rare. This report documents a 34-year-old male with a right hand mass that had been present for a few years, continuing to grow in size. The mass was located at the palm and extended from the mid-third metacarpal to involve all digits except the thumb. The mass was determined to be monophasic synovial sarcoma on histopathologic exam. Fluorescence in situ hybridization for SYT gene rearrangement was positive in 72% of cells. Resection of the mass was followed by radiation and chemotherapy. The patient had a long-term follow-up of 3.5 years with no evidence of any local recurrence of the tumor. This report increases awareness of this extremely rare malignancy-an awareness that is crucial for early diagnosis and improved survival rates. It is more common at younger ages but it can occur at any age, so it should be suspected and included in the differential diagnosis, especially when evaluating slow growing, nonresolving hand lesions.
A case report of CIC-DUX4 fusion-positive sarcoma in the pelvic cavity with targeted next-generation sequencing results
Authors: Qian Wu, Ying He
Journal: Front Oncol (2022)
Keywords: cic–dux4, pole, low tumor mutational burden, target next generation sequencing, undifferentiated small round cell sarcoma
MeSH terms: Case Reports

CIC-DUX4 fusion-positive sarcoma is a subtype of undifferentiated small round cell sarcoma that is rarely reported. As far as we know, less than 200 cases have been reported worldwide to date. The clinicopathologic characteristics of this kind of tumor are non-specific, which makes it difficult to be diagnosed. Therefore, more cases are required to enrich the diagnosis and treatment experience. Here, we present a 17-year-old Asian girl diagnosed with CIC-DUX4 fusion-positive sarcoma after targeted next-generation sequencing. Her clinical manifestation was abdominal pain. Furthermore, a mass in the pelvic cavity and massive ascites were found after an imaging examination. After resection, the mass was sent to the pathology department for a definite diagnosis, and the micromorphology showed an undifferentiated sarcoma with massive necrosis. The tumor cells were round to spindle with clear to eosinophilic cytoplasm and vesicular nuclei. Rhabdoid cells and myxoid mesenchyme were focally shown. Immunohistochemical staining showed diffusely positive for vimentin, cyclin D1, Fli-1, and WT-1 and very focally positive for CD99. Moreover, the targeted next-generation sequencing also revealed other genetic changes in this tumor including LongInDel of POLE, copy number variation of CD79, low tumor mutational burden, and microsatellite stability. With a follow-up time of 6 months, the patient survived the disease and received chemotherapy routinely. This report presented a rare primary site CIC-DUX4 fusion-positive sarcoma (CDS) and revealed novel genetic changes that enrich the manifestation, histology, and cytogenetic scales of this rare sarcoma. In addition, we have summarized the clinicopathologic characteristics of this tumor by reviewing the literature to have a better understanding of CIC-DUX4 fusion-positive sarcomas, which may be helpful for diagnosis and treatment.