OpenMed/multicare-articles huggingface dataset:
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome - case report and review of the literature
Authors: Ilaria Bestetti, Alessandra Sironi, Ilaria Catusi, Milena Mariani, Daniela Giardino, Siranoush Manoukian, Donatella Milani, Lidia Larizza, Chiara Castronovo, Palma Finelli
Journal: Mol Cytogenet (2018)
Keywords: 13q deletion syndrome, array cgh, interphase fish, mosaicism, rb1
MeSH terms: Case Reports

Background:
The 13q deletion syndrome is a rare chromosome disorder associated with wide phenotypic spectrum, which is related to size and location of the deleted region and includes intellectual disability, growth retardation, craniofacial dysmorphisms, congenital malformations, and increased risk of retinoblastoma.
Case presentation:
Here, we report on a teenage boy with a mild phenotype characterized by obesity, hyperactivity, dysphagia, dysgraphia, sleep disturbance, and minor dysmorphic features (round face, bushy eyebrows, and stubby hands). Array Comparative Genomic Hybridization on blood identified a mosaic 13q14.13-13q31.1 deletion, with a mosaicism rate around 40%, which was confirmed by quantitative PCR and interphase Fluorescent In Situ Hybridization (iFISH) on both blood genomic DNA and cultured/uncultured blood lymphocytes, respectively. Conversely, karyotype analysis on blood estimated a mosaicism rate of 24% and iFISH on buccal smears revealed a borderline value of 0.4%, suggesting the absence of 13q deletion in this cell line.
Conclusions:
The comparison with previous patients carrying similar deletions informed that the proband clinical presentation is the mildest reported to date, thus supporting the burden of mosaicism in modulating the phenotype also in case of large chromosomal rearrangements. Characterization of further cases by in-depth mosaicism rate in tissues with different embryonic origins might contribute in the future to a better definition of genotype-phenotype correlation, including tumor risk.
Efficacy of uniportal video assisted thoracoscopic surgery in management of primary spontaneous hemopneumothorax
Authors: Yasser M Aljehani, Jawaher A Almusairii
Journal: Int J Surg Case Rep (2019)
Keywords: case report, primary spontaneous hemopneumothorax, uniportal vats

Introduction:
Primary spontaneous hemopneumothorax (PSHP) is an accumulation of blood and air in the pleural space without trauma or obvious etiology. It is a rare surgical emergency and may lead to hypovolemic shock if not treated. Early and fast recognition will improve patient outcomes.
Presentation of the case:
We present a case of PSHP in a young male utilizing the uniportal video-assisted thoracoscopic surgery (VATS) through the same incisional site of the thoracostomy tube. The patient made an uneventful recovery.
Discussion:
VATS has become the first line and the gold standard surgical management of most thoracic surgeries. In case of PSHP, some thoracic surgeons still skeptical about the minimal invasive approach in such emergency. Applying the concept of uniportal technique, which can be used for diagnostic as well as major therapeutic purposes. There is vast literature that support the notion that it reduces postoperative pain and paresthesia and lead to fast patient recovery.
Conclusion:
As demonstrated in our case, uniportal VATS is safe and effective in the management of PSHP.
Cerebral venous thrombosis in a child with nephrotic syndrome: case report
Authors: Shalinee Bhoobun, Alhaji Alusaine Jalloh, Kathryn H Jacobsen
Journal: Pan Afr Med J (2012)
Keywords: sierra leone, cerebral venous thrombosis, children, nephrotic syndrome
MeSH terms: Intracranial Thrombosis / diagnosis, Intracranial Thrombosis / etiology, Nephrotic Syndrome / complications, Venous Thrombosis / diagnosis, Venous Thrombosis / etiology, Case Reports, Adolescent, Headache / diagnosis, Headache / etiology, Humans, Male

Cerebral venous thrombosis (CVT), a rare and life threatening complication of nephrotic syndrome, has a variable and non-specific presentation, posing diagnostic challenges. We describe a case of CVT in a Sierra Leonean child with nephrotic syndrome who was successfully treated for the condition despite the resource limitations of the hospital. This case highlights the importance of considering cerebral venous thrombosis as a complication of idiopathic nephrotic syndrome in children presenting with neurological symptoms.
Pericecal hernia in a pediatric patient: Case report and literature review
Authors: Loay M AlJaberi, AlaaEddin K Salameh, Raed M Mashalah, Ayman AbuMaria
Journal: Int J Surg Case Rep (2019)
Keywords: case report, internal hernia, pediatric hernia, pericecal hernia, small bowel obstruction

Introduction:
Pericecal hernia is a rare cause of small bowel obstruction. They tend to affect the adult population more commonly but also may occur in the pediatric age group.
Case presentation:
We herein present a 16-year-old male who presented with 4 days of abdominal pain and distention. CT scan revealed evidence of dilated small bowel loops with evidence of ischemia. A laparotomy was performed and revealed a 20 cm segment of distal ileum protruding through the superior ileocecal recess. Ileocecectomy with primary side to side anastomosis was successfully performed and the patient recovered uneventfully after the procedure.
Discussion:
Although internal hernias may have a congenital etiology, most of the reported cases have occurred during adulthood and its presentation in childhood is uncommon. CT scan is the key for internal hernia diagnosis and management as it provides information about the presence of bowel obstruction, strangulation, and ischemia.
Conclusion:
High index of clinical suspicion and early intervention saves the patient from extensive bowel resection and other serious complications.
Emergency total thyroidectomy for bleeding anaplastic thyroid carcinoma: a viable option for palliation
Authors: Sunil Kumar, Mohit Kumar Joshi
Journal: Indian J Palliat Care (2011)
Keywords: active bleeding, anaplastic thyroid carcinoma, thyroidectomy
MeSH terms: Case Reports

Anaplastic thyroid carcinoma (ATC) is a rare and highly aggressive thyroid neoplasm. Bleeding from tumor is an uncommon, but potentially life-threatening complication requiring sophisticated intervention facilities which are not usually available at odd hours in emergency. We report the case of a 45-year-old woman who presented with exsanguinating hemorrhage from ATC and was treated by emergency total thyroidectomy. The patient is well three months postoperatively. Emergency total thyroidectomy is a viable option for palliation in ATC presenting with bleeding.
Anesthetic Management of a Pediatric Patient with Congenital Methemoglobinemia
Authors: Sung-Wook Choi, Elizabeth Putnam
Journal: Case Rep Anesthesiol (2023)
MeSH terms: Case Reports

A 15-year-old girl with congenital methemoglobinemia and no prior anesthetic history presented for the extraction of multiple impacted molars. Pulse oximetry values were expected to complicate the accurate monitoring of her oxygenation status in the perioperative period. An arterial line was placed for hemodynamic monitoring, arterial blood gas (ABG) analysis, and obtaining the methemoglobin (MetHgb) level and additional blood gases if clinically indicated. A continuous CO-oximeter was also used. Her intraoperative course was uneventful and she was discharged home on the same day of the procedure. This report reviews this rare condition and describes the monitoring methods utilized to assess her oxygen and methemoglobin levels, as well as the anesthetic techniques and pharmacologic agents employed. With appropriate intraoperative monitoring and careful drug selection, pediatric patients with this unusual condition can safely undergo general anesthesia.
Primary ovarian hydatid cyst in a postmenopausal woman: A rare case report
Authors: Taxiarchis Katsamagkas, Ioannis Tsakiridis, Dimitrios Evaggelinos, Paraskevi Skafida, Themistoklis Dagklis, Ioannis Kalogiannidis
Journal: Int J Surg Case Rep (2020)
Keywords: echinococcus, hydatid cyst, ovary, primary
MeSH terms: Case Reports

Introduction:
Hydatid cysts of the female reproductive system represent a rare entity. We report a case of a primary hydatid cyst of the right ovary of a postmenopausal woman that was diagnosed incidentally.
Presentation of the case:
A 72-year old overweight woman with history of three vaginal deliveries was referred due to uterine prolapse. During clinical examination of the patient, preoperative pelvic ultrasound revealed an ovarian cyst with benign characteristics. After oncology review, a laparoscopically assisted vaginal hysterectomy with bilateral salpingo-oophorectomy was conducted; the histopathology of the cyst revealed a hydatid cyst. Postoperative abdominal computed tomography identified no other sites of infection, indicating the ovary as the primary site of infection. During follow-up no recurrence occurred.
Discussion:
Hydatid cysts usually have a low progression and tend to be asymptomatic. Medical treatment may be successful in small asymptomatic cysts, however a close follow-up is needed after antihelminthic treatment. Surgical management with removal of the intact cyst is the preferred method for large cysts.
Conclusion:
We report a rare case of ovarian hydatid cyst that was effectively removed intact during a laparoscopically assisted vaginal hysterectomy with no recurrence during follow-up.
Laparoscopic Management of Synchronous Bilateral Ovarian Torsion in a Neonate
Authors: Murat Alkan, Ali Elbek, Cuneyt Evruke, Ahmet Eray Memec, Bulent Aziz Ozkan, Hatice Gülin Sucak, Ozgur Talat Erkan
Journal: J Neonatal Surg (2016)
Keywords: bilateral ovarian torsion, neonate, synchronous
MeSH terms: Case Reports

Synchronous bilateral ovarian torsion is an uncommon entity of which both ovaries twist at the same time or observed twisted during the surgical intervention. Herein, we present a neonate with bilateral ovarian torsion, which successfully managed by laparoscopic approach.
Misdiagnosis: Acute Chest Syndrome That Evolved into Acute Respiratory Distress Syndrome in a Patient without a Documented History of Hemoglobinopathy
Authors: Christoph Sossou, Ogechukwu Chika-Nwosuh, Christopher Nnaoma, Jose Bustillo, Asad Chohan, Etinosasere Okundaye, Pratik Patel
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Acute chest syndrome (ACS) is a feared complication of sickle cell disease. Here is a case of a patient who presented with symptoms suggestive of acute chest syndrome yet had a delayed diagnosis presumably due to the lack of documented history of sickle cell disease of the patient, consequently evolving into acute respiratory distress syndrome (ARDS). He was subsequently diagnosed with heterozygous sickle cell SC disease on hemoglobin electrophoresis. After appropriate management with mechanical ventilator, broad-spectrum empiric intravenous antibiotics, exchange transfusion, and intravenous fluid resuscitation, the patient was medically optimized and safely discharged home, with significant improvement noted on successive follow-up visits.
Misdiagnosed Tooth Aspiration in a Young Handicapped Boy: Case Report and Recommendations
Authors: Thibault Canceill, Rémi Esclassan, Mathieu Marty, Marie-Cécile Valera, Estelle Trzaskawka-Moulis, Emmanuelle Noirrit-Esclassan
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Tooth inhalation remains a rare incident but it may occur during dental care, especially in children. We report here the case of a four-year-old boy with Down syndrome who came to the hospital after a dental trauma. During the extraction procedure, he aspired his maxillary incisor without presenting any signs of respiratory distress and was discharged by the surgical team, who thought that he had swallowed the tooth. Three weeks later, he was admitted to the emergency service because of a pulmonary infection. Two endoscopy interventions under general anesthesia were necessary to recover the foreign body inside the left lung. Because of the multiple symptoms associated with the trisomy 21 syndrome (general hypotonia, impaired immunity, etc.), practitioners should be very mindful of aspiration risks and complications during dental care. The systematic prescription of lung radiography would prevent the onset of pulmonary infections and enable an earlier intervention.
An Out-of-Season Case of Coxsackie B Myocarditis with Severe Rhabdomyolysis
Authors: Alaap Mehta, Kali Larson, Bindu Sarika Ganapathineedi, Esteffania Villegas, Susmitha Dande, Wahaj Ahmed, Nadew Sebro
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

A 21-year-old woman was found to have fulminant myocarditis as a result of Coxsackie B infection (a virus shown to exhibit summer-fall seasonality) in mid-December. In this case report, seasonality of enteroviruses is examined, as well as additional factors which may contribute to sporadic cases during winter months. The case report also discusses clinical criteria for endomyocardial biopsy, utility of PCR vs. antibody serological tests, coinfection with multiple serotypes, and rhabdomyolysis in Coxsackie B.
Plasmablastic Lymphoma: Case Report of Prolonged Survival of an Advanced Human Immunodeficiency Patient and Literature Review
Authors: Hind Rafei, Ehab El-Bahesh, Antoine Finianos, Min-Ling L Liu, Geraldine P Schechter
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

Clinical Practice Points. Plasmablastic lymphoma (PBL) is a rare and highly aggressive variant of diffuse large B cell lymphoma with median survival of advanced stage patients varying between 6 and 15 months in previous reports. We report here a human immunodeficiency virus-infected patient surviving over 12 years following treatment for advanced PBL with EPOCH chemotherapy and intrathecal therapy. This case highlights the potential for improved survival in PBL with intensive chemotherapy. Further, literature review suggests promising prospects utilizing novel targeted therapies to increase the rate of prolonged responses.
Right-Sided Subcutaneous Implantable Cardioverter Defibrillator System Implantation in a Patient with Complex Congenital Heart Disease and Dextrocardia: A Case Report and Literature Review
Authors: Bandar Al-Ghamdi
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Patients with complex congenital heart disease (CHD) and low left ventricular ejection fraction are at an increased risk of sudden cardiac death (SCD). Prevention of SCD by subcutaneous implantable cardioverter defibrillator (S-ICD) implantation may represent a valuable option in certain CHD patients. Patients with CHD and dextrocardia pose a challenge in S-ICD system implantation, and nonstandard device placement may be required. Furthermore, electrocardiogram (ECG) screening prior to S-ICD implantation in CHD patients has significant limitations. This case represents the placement of a S-ICD system on the right side of the chest in a 26-year-old male with severe biventricular failure and nonsustained ventricular tachycardia following multiple corrective surgeries of situs inversus totalis, double-outlet right ventricle with a ventricular septal defect, and pulmonary atresia. The use of S-ICDs in a CHD population and in particular CHD patients with dextrocardia and right-sided S-ICD implantation is briefly discussed.
Multiple Injuries to the Lower Urinary Tract: Two Cases and Comparison with the EAU Guidelines
Authors: N Lumen, D Sharma, Y Abu-Ghanem, N Djakovic, F Kuehhas, E Serafetinidis, A Sujenthiran, M Waterloos, P Hallscheidt, N D Kitrey
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Blunt trauma to the lower urinary tract is usually associated with pelvic fractures. The European Association of Urology (EAU) provides guidelines to diagnose and treat these injuries. The guidelines summarise the available evidence and provide recommendations on diagnosis and treatment of these patients. Therefore, these guidelines are important adjuncts to the urologist and emergency physician in the clinical decision-making. However, strict adherence to the guidelines is not always easy or possible because of concomitant injuries obscuring the clinical picture. This is illustrated by two case reports of concomitant injuries of the lower urinary tract (bladder with urethral injury). The clinical decisions will be discussed point by point and should serve as a practical teaching moment for the reader.
Peripheral ulcerative keratitis, nodular episcleritis, and pulmonary nodules as the initial signs of rheumatic arthritis: A Case Report
Authors: Jingting Wang, Qin Zhang, Weiyun Shi, Yilin Pang, Suxia Li
Journal: Front Immunol (2022)
Keywords: infliximab, nodular episcleritis, peripheral ulcerative keratitis, pulmonary nodules, rheumatoid arthritis, rheumatoid vasculitis
MeSH terms: Arthritis, Rheumatoid / complications, Arthritis, Rheumatoid / diagnosis, Arthritis, Rheumatoid / drug therapy, Corneal Ulcer / diagnosis, Corneal Ulcer / drug therapy, Corneal Ulcer / etiology, Osteoarthritis, Rheumatic Fever, Scleritis / diagnosis, Scleritis / drug therapy, Scleritis / etiology, Case Reports, Adult, Female, Humans, Infliximab, Infliximab

Background:
Rheumatoid vasculitis (RV) is a rare but potentially devastating complication of rheumatoid arthritis (RA). It typically occurs in patients with extra-articular manifestations. Here we reported a case of PUK with nodular episcleritis and pulmonary nodules that occurred in the same patient without joint involvement.
Case presentation:
A 43-year-old Chinese woman, exhibited a partial crescent-shaped marginal corneal ulcer in the right eye at admission and the ulcer developed rapidly into nearly 360-degree ulcers in both eyes within one week. Nodular episcleritis was observed in the right eye. Conjunctival biopsy revealed vasculitis. Her rheumatoid factor (RF) and anti-cyclic citrullinated protein antibody were positive, while anti-neutrophilic cytoplasmic antibody (c-ANCA) and anti-protease 3 were negative. Pulmonary nodules were found, without joint involvement. The ocular condition did not relieve under the topical and systemic use of corticosteroids, or under other immunosuppressive agents until the infliximab therapy. PUK recurrence was observed after the discontinuation of infliximab.
Conclusions:
Rapidly deteriorated PUK with nodular episcleritis and pulmonary nodules occurred in the same patient is a special case of RA without joint involvement. This case reinforces the concept that RV may be the initial sign of RA. Infliximab can be used to prevent further progress of RA-related PUK in some refractory cases.
Case Report: First Documented Hip Arthroplasty on Chinese Patient with Ochronotic Arthropathy
Authors: Zhibo Ying, Jufeng Lu, Xucheng Wang, Qinghe Zeng, Hongting Jin, Bangjian He
Journal: Front Surg (2022)
Keywords: alkaptonuria, autosomal recessive disorder, homogentisc acid, ochronotic arthropathy, total hip arthroplasty
MeSH terms: Case Reports

Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by homogentisc acid (HGA) accumulation, the deposition of which in the joints usually causes ochronotic arthropathy. With no specific therapy for AKU currently, total joint arthroplasty in ochronotic arthropathy is applied to relieve the symptoms. A 63-year-old female patient came to our Orthopedic Surgery Department in 2019, complaining of severe limitation of movement and pain in the right hip for more than one year. A right total hip arthroplasy (THA) was performed due to the ineffective conservative therapy. At a follow-up of more than 15 months, the woman had full mobility with no complaining of pains. Since there is no relevant case reported about THA therapy for Chinese AKU patients, this report provides a feasible scheme, which makes clinical data more comprehensive.
Cytophagic Histiocytic Panniculitis (CHP) in a Patient with SLE Found after Autopsy: When a Rash Is "Complicated!"
Authors: Hafsa Abbas, Ahsan Aslam, Muhammad Saad, Masooma Niazi, Sridhar Chilimuri
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Introduction:
Cytophagic histolytic panniculitis (CHP) is a clinical disorder characterized by nodular panniculitis of the subcutaneous adipose tissue. It was first described in 1980 by Winkelmann. Histologically it is described as an infiltration of the adipose tissue by T- lymphocytes and phagocytic macrophages (also known as "bean bag cells"). Most of the cases are reported under the age of 50 and is a rare cause of panniculitis. We report a case of CHP in a young patient who presented to our emergency room (ER).
Case summary:
A 39-year-old African American woman who presented to our hospital with lethargy, progressive confusion, and generalized rash involving both lower extremities of 1 week duration. She had a history of pancytopenia and focal proliferative and membranous lupus nephritis classes 3 and 5. Her physical examination was remarkable for bilateral lower extremity pitting edema and a desquamating rash on both of her legs. The Nicolsky sign was positive. She was noted to be hypotensive and was started on intravenous fluids and broad spectrum antibiotics. Routine laboratory tests revealed severe pancytopenia, with a hemoglobin of 3.9 g/dl, white blood cell count 600/ul, and platelet count of 11000/ul. Within an hour of arrival to the ER she developed acute respiratory failure. She was intubated and placed on mechanical ventilation. She developed shock requiring vasopressors. No imaging could be done due to her unstable condition. Four hours after her initial presentation she developed asystole and expired. Postmortem histopathology of the adipose tissue revealed CHP.
Conclusion:
CHP can be rapidly fatal. The treatment involves high dose of intravenous steroids and immunosuppressants such as cyclosporine.
Rare presentation of chronic recurrent multifocal osteomyelitis of the Iliac wing mimicking Ewing's sarcoma
Authors: Pankaj Nepal, Syed I Alam, Sadia Sajid, Joshua Sapire, Vijayanadh Ojili
Journal: SA J Radiol (2021)
Keywords: crmo, chronic recurrent multifocal osteomyelitis, ilium, mri, rare
MeSH terms: Case Reports

This report describes a case of chronic recurrent multifocal osteomyelitis (CRMO) in an 11-year-old girl, involving the iliac bone as an initial, solitary site. Atypical imaging features were suspicious of a bone tumour, such as Ewing's sarcoma. Chronic recurrent multifocal osteomyelitis is a great masquerader and can present atypically. Radiologists should be familiar with both typical and atypical presentations, to determine an accurate diagnosis and guide appropriate management. Timely diagnosis may avoid invasive bone biopsy and inappropriate long-term antibiotic prescription for children.