OpenMed/multicare-articles huggingface dataset:
Extraordinary Delayed-Onset Negative Pressure Pulmonary Hemorrhage Resulting in Cardiac Arrest after General Anesthesia for Vocal Cord Polypectomy
Authors: Masahiro Koide, Tatsuya Kitada, Masaya Kogure, Kento Fukui, Koji Sogabe, Yukinori Kato, Hiroki Kitajima, Satoshi Akabame
Journal: Case Rep Crit Care (2020)
MeSH terms: Case Reports

Negative pressure pulmonary edema and hemorrhage are uncommon but potentially life-threatening complications associated with general anesthesia. Postoperative negative pressure pulmonary edema usually occurs immediately after surgery, and delayed-onset cases occurring more than 1 hour after surgery have rarely been reported. A 37-year-old woman with bronchial asthma underwent vocal cord polypectomy under general anesthesia in another hospital and experienced cardiac arrest due to a negative pressure pulmonary hemorrhage occurring 3 hours and 30 minutes after surgery. She was successfully treated with venoarterial extracorporeal membrane oxygenation and completely recovered without any complications. Extraordinary delayed-onset negative pressure pulmonary hemorrhage occurring more than three hours after surgery has rarely been reported. This case may indicate the need for more careful observation of patients following surgery.
Case Report: PNPLA2 Gene Complex Heterozygous Mutation Leading to Neutral Lipid Storage Disease With Myopathy
Authors: Jiejing Shi, Qianqian Qu, Haiyan Liu, Yan Zhang, Wenhao Cui, Ping Chen, Haidong Lv
Journal: Front Integr Neurosci (2021)
Keywords: jordans’ body, pnpla2 gene mutation, muscle imaging, muscle pathology, neutral lipid storage disease with myopathy

Objective: To investigate the clinical features, skeletal muscle imaging, muscle pathology, blood smear and so on of neutral lipid storage disease with myopathy (NLSDM) caused by PNPLA2 gene mutation. Methods: The clinical data, skeletal muscle imaging, pathological data, and genetic test results of a patient with NLSDM treated in our hospital were collected in detail, and the previous literature was reviewed and compared. Results: The main symptoms were muscle weakness and muscular atrophy. Pathological findings of muscle biopsy showed fat deposition in muscle fibers with border cavitation. Fatty droplets were seen in the cytoplasm of neutrophils in peripheral blood. Magnetic resonance imaging of the muscles of both lower extremities showed that muscle in the thigh vastus intermedius, lateral muscles, biceps, and the muscle abdominal area of the middle leg were filled or replaced by fat. Genetic test results suggested mutations in the PNPLA2 gene. Conclusion: NLSDM is a rare clinical myopathy with abnormal lipid metabolism. Characteristic changes can be seen in skeletal muscle imaging and pathology. The detection of PNPLA2 gene mutation is an important basis for diagnosing NLSDM. Asymmetry and progressive limb weakness are the clinical features. Muscle MRI is mainly involved in the posterior group of the lower limbs. Jordans bodies in the peripheral blood smear and a large number of coarse-grained lipid deposits with rimmed vacuoles in muscle fibers are the characteristic pathological changes.
Case Report: Sustained mitochondrial damage in cardiomyocytes in patients with severe propofol infusion syndrome
Authors: Satoshi Karasawa, Taka-Aki Nakada, Naoto Mori, Michiko Daimon, Hideyuki Miyauchi, Tetsuya Kanai, Hiroyuki Takano, Yoshio Kobayashi, Shigeto Oda
Journal: F1000Res (2020)
Keywords: propofol, arrhythmia, cardiac failure, mitochondria
MeSH terms: Case Reports

Introduction: Propofol infusion syndrome (PRIS) is rare but a potentially lethal adverse event. The pathophysiologic mechanism is still unknown. Patient concerns: A 22-year-old man was admitted for the treatment of Guillain-Barré syndrome. On day six, he required mechanical ventilation due to progressive muscle weakness; propofol (3.5 mg/kg/hour) was administered for five days for sedation. On day 13, he had hypotension with abnormal electrocardiogram findings, acute kidney injury, hyperkalemia and severe rhabdomyolysis. Diagnosis and interventions: The patient was transferred to our intensive care unit (ICU) on suspicion of PRIS. Administration of noradrenaline and renal replacement therapy and fasciotomy for compartment syndrome of lower legs due to PRIS-rhabdomyolysis were performed. Outcomes: The patient gradually recovered and was discharged from the ICU on day 30. On day 37, he had repeated sinus bradycardia with pericardial effusion in echocardiography. Cardiac 18F-FDG PET on day 67 demonstrated heterogeneous 18F-FDG uptake in the left ventricle. Electron microscopic investigation of endomyocardial biopsy on day 75 revealed mitochondrial myelinization of the cristae, which indicated mitochondrial damage of cardiomyocytes. He was discharged without cardiac abnormality on day 192. Conclusions: Mitochondrial damage in both morphological and functional aspects was observed in the present case. Sustained mitochondrial damage may be a therapeutic target beyond the initial therapy of discontinuing propofol administration.
Arnold-Chiari Malformation Type II and CYP1B1 Congenital Glaucoma: A Possible Association
Authors: Shaikha Aldossari, Amani Al Bakri, Yumna Kamal
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Background:
We describe a case of an infant with Arnold-Chiari Malformation Type II (ACM-II) who was born with lumbosacral myelomeningocele, hydrocephalus, and primary congenital glaucoma (PCG) together with dysmorphic features (scaphocephaly, frontal bossing, hypotelorism, entropion, and flat nasal bridge), which according to our knowledge, is a combination that has yet to be described in literature. Primary diagnosis. A 2-year-old female who is known to have ACM-II was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. Findings. During her last physical exam (postop), she was vitally stable, conscious with good feeding. Ophthalmic assessment revealed buphthalmia, superior paracentral scar, deep anterior chambers (AC), and round pupils with positive red reflex, clear lens, and an IOP of 16, 14 mm Hg, respectively. Neurological exam showed paraparesis and moving upper extremities and has axial hypotonia. Genetic testing showed CYP1B1 gene mutation.
Conclusion:
The aim of reporting this case is to share the findings in this infant as it may be a new association. The main learning message here is that ACM-II patients may present with certain ocular symptoms, including glaucoma-related ones that may mimic neurological disorders. This report brings information that could alert general practitioners, neurologists, and neurosurgeons. A deeper understanding of this rare disorder may aid the diagnosis of cases with similar characteristic physical findings by referring them to an ophthalmology clinic for further evaluation. Case presentation. A 2-year-old female who is known to have Arnold Chiari Malformation Type II (ACM- II) was referred due to abnormal eye examination done in a peripheral hospital that suggested infantile glaucoma in both eyes. MRI at 3 months of age showed lumbosacral myelomeningocele and hydrocephalus. Genetic testing confirmed a CYP1B1 mutation. These combinations of symptoms were never described in the literature before.
Optical Coherence Tomography Angiography Evolution of Choroidal Neovascular Membrane in Choroidal Rupture Managed by Intravitreal Bevacizumab
Authors: Massimo Lorusso, Luisa Micelli Ferrari, Eleni Nikolopoulou, Tommaso Micelli Ferrari
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

Purpose:
To describe a case of a 25-year-old man with choroidal neovascularization (CNV) secondary to traumatic choroidal rupture treated with intravitreal bevacizumab and to evaluate the vascular structure of the area near the traumatic choroidal rupture.
Methods:
The patient underwent complete ophthalmologic evaluation, including best-corrected visual acuity (BCVA), intraocular pressure, anterior segment and funds examination, and optical coherence tomography angiography (OCTA) at baseline and on each follow-up visit. Fluorescein angiography (FA) was performed at baseline. Intravitreal bevacizumab was administered at the time of choroidal neovascular membrane diagnosis.
Results:
At baseline, ophthalmoscopic examination of the left eye revealed four subretinal macular hemorrhages and two choroidal ruptures located temporally to the fovea. On OCT angiograms, the choroidal rupture appeared as a hypointense break in choriocapillaris plexus. At 4-week follow-up, the OCTA disclosed a well circumscribed lesion characterized by numerous and fine anastomotic vessels. Patient received intravitreal injection of bevacizumab. At 6-week post injection, OCTA documented regression of the neovascular complex.
Conclusion:
Choroidal neovascularization is a common complication associated with traumatic choroidal rupture and OCTA may represent a complementary diagnostic technique to evaluate the vascular structure of the area near the traumatic choroidal rupture.
Caecal appendix lipomatosis in a pregnant patient mimicking acute appendicitis
Authors: Laura Pereira Sanches, Antônio Rahal Júnior, Priscila Mina Falsarella, Vithor de Oliveira Carvalho, Leonardo Guedes Moreira Valle, Miguel José Francisco Neto, Rodrigo Gobbo Garcia, Marcelo Buarque de Gusmão Funari
Journal: Einstein (Sao Paulo) (2020)
MeSH terms: Appendicitis / diagnostic imaging, Appendix / diagnostic imaging, Lipomatosis, Case Reports, Acute Disease, Adult, Diagnosis, Differential, Female, Humans, Pregnancy, Ultrasonography

A 34-years-old pregnant woman admitted in the emergency unit complaining about worsening right iliac fossa pain for 2 days. Acute appendicitis was the suspected diagnosis. Laboratory exams were ordered and results were within normal limits for infectious and inflammatory aspects. Ultrasound scan revealed a pregnancy in course without alterations and a thickness of the appendix wall without inflammatory signs in the surrounding tissue. Because the suspicion of acute appendicitis remained, a magnetic resonance was done and confirmed the diagnosis of a cecal appendix lipomatosis.
Persistent Postoperative Hiccups
Authors: Emily Bryer, Jeffrey Bryer
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Hiccups are a common and poorly understood pathologic phenomenon. While hiccups often occur suddenly and episodically, they may persist for weeks and sometimes months. There is a paucity of data regarding the precise etiology and optimal treatment for persistent hiccups. Frequently considered a benign and frustrating condition, hiccups are sometimes a presenting symptom for pulmonary embolism and cardiac disease. We present a patient with gastroesophageal reflux disease who developed 11 days of recurrent hiccups following an orthopedic procedure.
Giant Pericardial Lipoma Inducing Cardiac Tamponade and New Onset Atrial Flutter
Authors: Connor Charles Kerndt, Alexander Michael Balinski, Hayk Vahe Papukhyan
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Although pericardial lipomas are both rare and benign, rapid or excessive growth can induce potentially fatal conditions such as pericarditis, arrhythmia, and cardiac tamponade. This case illustrates an example where a 65-year-old with atypical chest tightness unveiled a 10 × 15 cm anterior pericardial mass with circumferential effusion and progressive deterioration to cardiac tamponade. Initial transthoracic echocardiogram imaging was technically difficult in this patient due to habitus and body mass, which failed to illustrate underlying effusion. Recurrent bouts of refractory supraventricular tachycardia prompted further investigation of this patient's presentation with transesophageal echocardiogram, which showed evidence of an echogenic mass with cardiac tamponade. An urgent pericardial window and pericardial lipectomy immediately relieved this hemodynamically compromising condition. Subsequent atrial flutter resulted with the removal of the anterior fat pad during surgery, complicating recovery.
An unusual location of a cavernous hemangioma: a case report
Authors: Zahra Sayad, Bouchra Dani, Salma Benazzou, Malik Boulaadas
Journal: Pan Afr Med J (2021)
Keywords: cavernous, case report, diagnostic, hemangioma, treatment
MeSH terms: Hemangioma, Cavernous / diagnosis, Muscle Neoplasms / diagnosis, Temporal Muscle / pathology, Case Reports, Adult, Female, Hemangioma, Cavernous / pathology, Humans, Muscle Neoplasms / pathology

Hemangiomas are benign vascular tumors that most often affect the skin, mucous membranes, subcutaneous tissues, bone and on rare occasions muscles. In the head and neck region, the masseter and trapezius muscles are most often affected; the temporalis muscle involvement is extremely rare. It is a childhood pathology that rarely occurs in adults. We report a case of a cavernous hemangioma in a 37-year-old female. Through this case and in the light of literature we focus on the clinicopathological aspects of this tumor and the rarity of this location.
Coronary Heart Disease and an Incidental Parathyroid Carcinoma
Authors: M Stoll, C A Nebiker, L Remonda, R Grobholz
Journal: Case Rep Pathol (2019)
MeSH terms: Case Reports

A 71-year-old woman was admitted with angina pectoris. During hospitalization she developed a myocardial infarction (NSTEMI). Laboratory results revealed a mild elevated troponin and an elevated calcium level (3.35 mmol/l). Subsequently, there was a decreased phosphate (0.36 mmol/l [normal 0.81-1.62 mmol/l]) as well as 16-fold elevated serum level of parathyroid hormone (PTH, 1156 ng/l [normal 10-73 ng/l]), indicating a primary hyperparathyroidism. Sonographically a thyroidal node was detected, not clearly demarcated (TIRADS 5). FNA showed a monomorphic, partial follicular cell population with an immunohistochemical positivity for PTH. Magnetic resonance imaging (MRI) showed a 5 cm large tumor at the right caudal pole of the thyroid with compression of the dorsolateral trachea without infiltration. Surgical removal with en bloc resection of the right hemithyroid with parathyroidectomy was performed. Postoperatively the PTH level dropped to 12.1 ng/l. Pathological examination revealed a 5 cm tumor with infiltration of the thyroid and a perineural invasion. The diagnosis of a presymptomatic parathyroid carcinoma could be established. The affirmative histopathological diagnosis of a parathyroid carcinoma can be challenging and is limited to tumors with evidence of invasive growth in adjacent structures such as the thyroid and/or soft tissue, perineural spaces, angioinvasion of capsular and/or extracapsular vessels, and/or documented metastases.
Heterotopic Ossification of the Inferior Vena Cava Wall: A Case Report and Literature Review
Authors: Jihua Tian, Li Zhang, Min Hu, Xing Zeng, Yongjun Wang, Chunguang Yang, Zhiquan Hu
Journal: Front Surg (2021)
Keywords: heterotopic ossification, inferior vena cava (ivc), mass, retroperitoneum, surgical resection
MeSH terms: Case Reports

Masses of the inferior vena cava (IVC) are very diverse, most of which are thrombus and tumor thrombus, whereas heterotopic ossification of IVC has never been reported. Heterotopic ossification (HO) is the formation of mature lamellar bone outside normal bones and in soft tissues. Some researchers believe that HO is a manifestation of vascular calcification. Here we present a case of HO of the inferior vena cava (IVC) wall. A 68 year old female patient complaining hypertension and palpitation and diagnosed with a retroperitoneal mass was found to have a primary mass of the inferior vena cava wall during surgery. Histopathological examination after surgical resection revealed that the mass was mainly composed of mature bone tissues and hematopoietic tissues of bone marrow, there was no recurrence and the patient was symptom-free 15 months after the surgery. HO of the inferior vena cava wall is very rare, with large volume it can affect the circulation, and this case remind us that it can be cured by surgical resection.
Zika virus infection in a pregnant Canadian traveler with congenital fetal malformations noted by ultrasonography at 14-weeks gestation
Authors: Kevin L Schwartz, Tiffany Chan, Nanky Rai, Kellie E Murphy, Wendy Whittle, Michael A Drebot, Jonathan Gubbay, Andrea K Boggild
Journal: Trop Dis Travel Med Vaccines (2018)
Keywords: arbovirus, congenital infections, fetal sonography, pregnancy and travel, zika virus
MeSH terms: Case Reports

Background:
Following emergence of Zika virus in the Americas, a devastating new congenital syndrome has been documented, leading to significant morbidity among Zika-infected fetuses and neonates.
Case presentation:
A 29-year-old pregnant woman infected with Zika virus at 9-weeks gestation in Trinidad presented with one-month of fever, headache, and myalgia with persistent viremia. Significant fetal abnormalities were identified at 14-week ultrasound, which is the earliest ultrasound to describe a severely affected fetus following Zika virus infection to our knowledge.
Conclusions:
We discuss the implications of prolonged maternal viremia and the spectrum of congenital Zika syndrome detectable by fetal ultrasound.
Diagnosis of abdominal pregnancy still a challenge in low resource settings: a case report on advanced abdominal pregnancy at a tertiary facility in Western Kenya
Authors: Sahara Shurie, John Ogot, Philippe Poli, Edwin Were
Journal: Pan Afr Med J (2018)
Keywords: abdominal pregnancy, advanced abdominal pregnancy, ectopic pregnancy
MeSH terms: Pregnancy, Abdominal / diagnosis, Ultrasonography, Prenatal / methods, Uterine Hemorrhage / etiology, Case Reports, Adult, Female, Humans, Kenya, Pregnancy, Tertiary Care Centers

Abdominal pregnancy is a rare form of ectopic pregnancy, occurring in 1: 10,000 to 1: 30,000 pregnancies and accounting for up to 1.4% of all ectopic pregnancies. It is classified as primary or secondary depending on the site of fertilization. However, when it does happen, it may remain unnoticed until term because the pregnancy can appear normal during clinical examination. Advanced abdominal pregnancy is associated with high mortality rate for both the mother and the baby at 1-20% and 40-95% respectively. We report a case of a 30-year-old female para 2+0, gravida 3 at 35+1 who presented at a Tertiary facility in Eldoret Kenya with one-day history of per vaginal bleeding and 2 weeks' history of no fetal movements. The importance of this case report is to highlight the challenges associated with diagnosis of advanced abdominal pregnancy in low resource settings. Ultrasound alone cannot be relied on to make the diagnosis. Whenever an induction is not working, abdominal pregnancy should be considered.
Composite grafting of a distal thumb amputation: a case report and review of literature
Authors: J Choo, B Sparks, M Kasdan, B Wilhelmi
Journal: Eplasty (2015)
Keywords: composite graft, distal thumb injuries, finger amputation, replantation, thumb amputation
MeSH terms: Case Reports

Objective:
We report a case in which an avulsion-amputation of the thumb proximal to the lunula was repaired by reattaching the amputated segment as a composite graft. The graft demonstrated complete survival with only a minimal sacrifice in length.
Methods:
A 23-year-old man presented 4 hours after an avulsion injury of the thumb with associated distal and proximal phalanx fractures. The amputated segment included the sterile and germinal matrix. He underwent defatting and composite grafting of the amputated segment followed by K-wire fixation of his proximal phalanx fracture.
Results:
In his 1-week follow-up, the patient's composite graft-including his nail bed-demonstrated complete survival. At one month, the composite graft maintained stable soft tissue coverage and showed signs of nail plate regrowth. Four months after repair, he was able to return to light duty and was advanced to full duty within 5 months. He continued to report gradually improving hypersensitivity at the margins of the graft and stiffness of the interphalangeal joint. At five months he regained full mobility of his carpometacarpal joint. The range of motion of his interphalangeal and metacarpophalangeal joint were 0 to 10 degrees and 0 to 25 degrees, respectively. He was able to oppose his thumb to all 4 digits. Six months after repair, he demonstrated protective sensation of the tip of the thumb.
Conclusion:
Composite grafting of the thumb, even in less than ideal cases, can still provide useful length for function as a opposable post and can be considered in reconstruction of thumb amputations at or proximal to the lunula.
Case Report of a Traumatic Atlantoaxial Rotatory Subluxation with Bilateral Locked Cervical Facets: Management, Treatment, and Outcome
Authors: Nael Hawi, Dirk Alfke, Emmanouil Liodakis, Mohamed Omar, Christian Krettek, Christian Walter Müller, Rupert Meller
Journal: Case Rep Orthop (2016)

The aim was to report a rare case of isolated traumatic atlantoaxial rotatory subluxation without ligamentous injury. Management consisted of analgesia, sedation, and application of a halo skull traction device. After removing halo skull traction, full reduction and recovery were achieved without instability.
Rubinstein-taybi syndrome: a case report
Authors: A P Münevveroglu, B B Akgöl
Journal: Case Rep Dent (2012)

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report.
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)
Authors: Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen
Journal: Case Rep Genet (2023)
MeSH terms: Case Reports

We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome. His main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep. Another likely pathogenic gene variant was observed in the PKP2 gene and is in accordance with the observed early cardiomyopathy. Single-photon emission computed tomography imaging of dopamine transporters showed a reduced signal in the basal ganglia consistent with Parkinson's disease. Therapies with a variable number of drugs, including antiparkinsonian medications, have yielded poor responses. Our case report extends the picture of the adult phenotype of Partington syndrome.