OpenMed/multicare-articles huggingface dataset:
X-Linked Lymphoproliferative Syndrome and Common Variable Immunodeficiency May Not Be Differentiated by SH2D1A and XIAP/BIRC4 Genes Sequence Analysis
Authors: Nesrin Gulez, Guzide Aksu, Afig Berdeli, Neslihan Karaca, Sema Tanrıverdi, Necil Kutukculer, Elif Azarsiz
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4) gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory. A six-year-old male patient was admitted with the complaints of persistent general lymphadenopathy, for two years had fever, bilateral cervical multiple microlymphadenopathy, hepatic/splenic enlargement with laboratory findings as decreased serum immunoglobulins, negative EBV VCA IgM (viral capsid antigen) and anti-EBV EA (antibody to early D antigen), positive EBV VCA IgG (viral capsid antigen) and EBV EBNA (antibody to nuclear antigen). SH2D1A gene analysis was negative. XIAP/BIRC4 sequencing revealed two novel single nucleotide variants (exon 7, 1978G > A, and 1996T > A) in the 3'UTR of the gene in both patient and mother which were not disease causing. XIAP protein expression was found to be normal. The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. The patient will to be followed up as CVID until he presents new diagnostic signs or until the identification of a new gene.
Floor-of-mouth metastasis in colorectal cancer
Authors: Tejinder Singh, Usha Amirtham, C T Satheesh, K C Lakshmaiah, T M Suresh, K Govind Babu, C Ramachandra
Journal: Ann Saudi Med (2011)
MeSH terms: Adenocarcinoma, Mucinous / secondary, Colorectal Neoplasms / pathology, Mouth Floor / pathology, Mouth Neoplasms / secondary, Case Reports, Adenocarcinoma, Mucinous / drug therapy, Adenocarcinoma, Mucinous / radiotherapy, Adult, Antineoplastic Combined Chemotherapy Protocols / administration & dosage, Colorectal Neoplasms / therapy, Combined Modality Therapy, Fatal Outcome, Female, Fluorouracil / administration & dosage, Humans, Leucovorin / administration & dosage, Mouth Neoplasms / drug therapy, Mouth Neoplasms / radiotherapy, Organoplatinum Compounds / administration & dosage, Organoplatinum Compounds, Leucovorin, Fluorouracil, Folfox protocol

Colorectal cancers have potential for lymphatic and hematogenous metastases. Surgery is the definitive treatment, but the prognosis can be improved with the addition of chemotherapy, radiotherapy or both. However, the incidence of recurrence, both local and distant, remains significant. Distant metastases occur most often in the liver and lung; however, metastases to bone, adrenals, lymph nodes, brain, skin and the oral region have been reported. Metastases to the oral region are uncommon and may occur in the oral soft tissues or jaw bones. The prognosis in such patients is usually very poor. We report a case of colorectal carcinoma with metastasis to the floor of the mouth. This is probably the first reported case of metastasis to the floor of the mouth in a patient with colorectal cancer.
Case Report: Intraarticular Iliopsoas Tendon causes Groin Pain Following Periacetabular Osteotomy
Authors: Sebastian Gebhardt, Lars Nonnenmacher, Georgi I Wassilew, Alexander Zimmerer
Journal: Front Surg (2022)
Keywords: pao, femoroplasty, iliopsoas tendon, impingement, pain
MeSH terms: Case Reports

A 43-year-old female patient reported persistent iliopsoas-related groin pain following periacetabular osteotomy (PAO) combined with femoroplasty via a direct anterior approach due to CAM morphology. Concomitantly with the planned removal of screws, hip arthroscopy was performed, and the iliopsoas tendon was found to run intraarticularly, resulting in the tendon being impaired in its mobility and being entrapped. The tendon was arthroscopically released. The patient reported relief of the groin pain after the arthroscopic tendon debridement. During PAO combined with capsulotomy, the postoperatively observed intraarticular position of the iliopsoas tendon should be prevented by careful closure of the joint capsule.
The Mysterious Mitral Mass: A Case of Valvular Myxoma
Authors: Ramy Mando, Julian J Barbat, Alessandro Vivacqua
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Myxomas are the most common benign cardiac neoplasms in adults. The vast majority of cardiac myxomas arise from the left atrium near the fossa ovalis of the intra-atrial septum. There have been reports of myxomas arising from the ventricles accounting for about 5% of cases. In our literature review, we have found 55 reported cases of myxomas originating from the mitral valve reported in the adult population dating back to 1871. The majority of these cases presented with embolic complications or syncope. We present an incidental mitral valve myxoma which we excised in efforts to prevent debilitating complications.
Erdheim-Chester Disease With Concurrent Lung Adenocarcinoma
Authors: Nadia Solomon, Arne Landwehr, Zerwa Farooq, Garfield Gutzmore, Horace Tang, Sandeep Singh Tuli, Vincent Rizzo
Journal: J Investig Med High Impact Case Rep (2020)
Keywords: cancer, challenges, communication, medical decision making
MeSH terms: Adenocarcinoma of Lung / complications, Erdheim-Chester Disease / complications, Lung Neoplasms / complications, Case Reports, Adenocarcinoma of Lung / pathology, Biopsy, Erdheim-Chester Disease / pathology, Female, Humans, Lung Neoplasms / pathology, Middle Aged, Tomography, X-Ray Computed

Erdheim-Chester disease (ECD) is a rare type of blood cancer characterized by infiltration of the body tissues by pathologic histiocytes, leading to widespread inflammation and damage. Clinical presentations range widely, from asymptomatic infiltration of bone to multiple organ system damage and resultant dysfunction. This report describes a case of a patient with several unusual imaging findings that led to a differential diagnosis of ECD; however, a biopsy of a mediastinal mass suspected to be due to histiocyte infiltration instead revealed primary lung cancer. Ultimately, ECD could not be ruled out, and the patient was referred to dermatology for a superficial facial xanthelasma biopsy, results of which were consistent with ECD. Concurrent ECD and adenocarcinoma is highly unusual; this case demonstrates the importance of a thorough investigation and the consideration that not all findings may be attributable to a single disease process, even when the alternative is very unlikely.
Metastatic Colorectal Adenocarcinoma in a Bifid Ureter
Authors: Nikhil Gopal, Michael Stern, Neel H Patel, Gerald Matthews, Majid Eshghi
Journal: J Endourol Case Rep (2019)
Keywords: bifid ureter, colorectal adenocarcinoma, secondary ureteral metastasis, ureteroscopy
MeSH terms: Case Reports

Background: Secondary malignancies of the ureter are uncommon. We report the diagnosis and management of metastatic colon cancer to the bifurcation of a bifid ureter. Case Presentation: A 59-year-old man presented with diffuse metastasis with right hydronephrosis in both renal moieties of a partially duplicated system and an enhancing lesion within the proximal common ureter. Ureteral biopsy was positive for colorectal adenocarcinoma. The patient was subsequently started on palliative chemoradiation. Conclusion: The ureter is a rare location for hematogenous/lymphatic metastases. When a ureteral mass is present on imaging, ureteroscopy should be performed to characterize the extent of tumor and to rule out secondary malignancy.
Multiple and Bilateral Sporadic Renal Cell Carcinomas: A Surgical Challenge
Authors: Antonios Katsimantas, Spyridon Paparidis, Konstantinos Bouropoulos, Nikolaos Ferakis
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Sporadic, synchronous, bilateral, or unilateral Renal Cell Carcinomas constitute a rare clinical entity. We report the case of a 68-year-old male patient who presented in our department due to incidentally discovered multiple, bilateral renal tumors. Magnetic Resonance Imaging demonstrated cT1b renal tumors at the lower pole of each kidney and a cT1a renal tumor at the upper pole of the right kidney. The patient underwent transperitoneal, laparoscopic left partial nephrectomy with renal artery occlusion, histology revealed high-grade, pT1b, clear-cell renal cell carcinoma; however we observed decline of patient's estimated glomerular filtration rate postoperatively. Forty days postoperatively, he underwent open partial nephrectomy for the right sided tumors with manual compression of the renal parenchyma and no use of ischemia. Histology revealed high-grade, pT1a, clear-cell renal cell carcinoma at the upper pole of the right kidney and low-grade, pT1b, clear-cell renal cell carcinoma at the lower pole of the right kidney. There was no additional decline in the serum creatinine value postoperatively. The patient avoided permanent or temporary dialysis and 6 months postoperatively he demonstrated no recurrence on imaging and his renal function remained stable.
A case study of the pathology on a rare case of scalp lymphangioma in an adult patient
Authors: Omar M Shihadeh, Kazim Mohammed, Amro Elfaieg, Javeed Iqbal, Ali Raza
Journal: Qatar Med J (2023)
Keywords: adult, head and neck neoplasms/congenital, head and neck neoplasms/surgery, lymphangioma/diagnosis, lymphangioma/surgery
MeSH terms: Case Reports

Lymphangiomas are congenital malformations of the lymphatic system, mostly well-circumscribed and cystic. Although many theories were proposed to explain etiology, it is still controversial. Most of these lesions are found in the cervicofacial region, while the scalp is considered a scarce location, with only a few reported cases in the literature. Herein, we report a case of scalp lymphangioma in a 33-year-old male, which unexpectedly and significantly progressed in size over one year. The MRI scan characteristics were unique compared to the literature description of the lymphangioma, as it appeared hypointense in both T1WI and T2WI with inhomogeneous contrast enhancement, eventually consistent with lymphangioma on histopathology. The patient underwent surgical excision of the mass without any recurrence over a follow-up period of 1 year.
Effectivity of ILF Neurofeedback on Autism Spectrum Disorder-A Case Study
Authors: Alexandra Rauter, Horst Schneider, Wolfgang Prinz
Journal: Front Hum Neurosci (2022)
Keywords: othmer method, autism spectrum disorder (asd), electroencephalogram (eeg), infra-low frequency (ilf) neurofeedback, optimal response frequency (orf), symptom severity scale, symptom tracking
MeSH terms: Case Reports

Autism spectrum disorder (ASD) is a neural and mental developmental disorder that impacts brain connectivity and information processing. Although application of the infra-low frequency (ILF) neurofeedback procedure has been shown to lead to significant changes in functional connectivity in multiple areas and neuronal networks of the brain, rather limited data are available in the literature for the efficacy of this technique in a therapeutic context to treat ASD. Here we present the case study of a 5-year-old boy with ASD, who received a treatment of 26 sessions of ILF neurofeedback over a 6-month period. A systematic and quantitative tracking of core ASD symptoms in several categories was used to document behavioral changes over time. The ILF neurofeedback intervention decreased the average symptom severity of every category to a remarkable degree, with the strongest effect (80 and 77% mean severity reduction) for physical and sleep symptoms and the lowest influence on behavioral symptoms (15% mean severity reduction). This case study is representative of clinical experience, and thus shows that ILF neurofeedback is a practical and effective therapeutic instrument to treat ASD in children.
Brain stem herniation secondary to cerebrospinal fluid drainage in ruptured aneurysm surgery: a case report
Authors: You-Sub Kim, Sung-Hyun Kim, Seung-Hoon Jung, Tae-Sun Kim, Sung-Pil Joo
Journal: Springerplus (2016)
Keywords: brain sag, lumbar drainage, subarachnoid hemorrhage, trendelenburg position

Background:
A lumbar drainage catheter is frequently placed intra-operatively to decrease fluid pressure on the brain in aneurysmal subarachnoid cases. In rare cases, this catheter placement can lead to intracranial hypotension, resulting in brain stem herniation termed "brain sag" and it can lead to neurological injury and may prove to be fatal. We present our patient with brain sag secondary to intraoperative lumbar drainage.
Case description:
A 56-year-old woman was admitted with a sudden onset of severe headache. A computed tomography (CT) scan revealed diffuse subarachnoid hemorrhage with ruptured anterior communicating artery aneurysm. After general anesthesia, a lumbar drainage catheter was placed intra-operatively to reduce pressure on the brain and 50 cc of CSF was removed during a 5-h period. Three to five days after operation, her neurologic symptoms became worse with an altered mental state and pupillary asymmetry. CT and magnetic resonance imaging (MRI) showed slit lateral ventricles, effacement of the cisterns and an elongated brain stem. After placing the patient in the Trendelenburg position, the patient rapidly recovered to her baseline neurologic state.
Discussion:
Typical complications of subarachnoid hemorrhage such as vasospasm or hydrocephalus also manifest as neurological deterioration, but their treatments differ greatly from those for brain sag. Thusly, it is important to distinguish between causes. Treatments such as lumbar or extra-ventricular drainage, induced hypertension or administration of mannitol must be stopped once brain sag is suspected. Also, care should be taken for typical imaging features of brain sag on CT or MRI scan. For brain sag, placing the patient in the Trendelenburg position can improve neurological status in a rapid fashion.
Conclusions:
Brain sag is a rare but serious condition and can be fatal if not rapidly diagnosed and treated. We therefore recommend including brain sag in the differential diagnosis, along with vasospasm, hydrocephalus or cerebral edema as part of possible complications following subarachnoid hemorrhage treatment. We hope our clinical and imaging data from this case study contribute to the correct diagnosis of brain sag, as its early detection is important.
Posterior-only vertebral column resection for revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia: A case report and literature review
Authors: Youping Tao, Jigong Wu, Huasong Ma
Journal: Medicine (Baltimore) (2017)
MeSH terms: Kyphosis / surgery, Laminectomy / adverse effects, Orthopedic Procedures / methods, Scoliosis / surgery, Case Reports, Review, Adolescent, Humans, Kyphosis / etiology, Male, Paraplegia / etiology, Reoperation, Scoliosis / etiology

Rationale:
Severe post-laminectomy spinal deformity associated with late-onset paraplegia is a complex and rare disorder. Little is known about revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia treated by the single stage posterior-only vertebral column resection (VCR) procedure.
Patient concerns and diagnoses:
The patient was a 14-year-old male diagnosed as post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia. He underwent posterior total laminectomy through the thoracic spine for intramedullary spinal cord tumors at the age of 3 years in another hospital. He then developed kyphosis deformity 1 year after laminectomy, and underwent posterior spinal fusion without instrumentation at 9 years of age. However, the deformity gradually progressed over the years. Seven months before admission to our hospital, he developed a significant progression of neurological deficits, including weakness of strength and sensation in lower extremities bilaterally, with no bladder or bowel dysfunction. There was no improvement of spinal cord function with conservative measures, and he required a wheelchair for movement.
Interventions:
The patient underwent posterior-only VCR by single stage with the purposes of spinal cord decompression and spinal deformity correction.
Outcomes:
Postoperatively, he was transferred to the intensive care unit (ICU) and required positive pressure ventilation support to improve his respiratory condition. The child experienced cerebrospinal fluid leak (CSF) which resulted in an unplanned return to the operating room. The neurological function improved from preoperative Frankel C to Frankel D within 12 months of surgery, and recovered completely to Frankel E by 18 months. At the 24 month follow-up, the good neurological function was maintained; pulmonary function tests (PFTs) revealed improved forced vital capacity (FVC) and forced expiratory volume for 1 second (FEV1). The patient's coronal major curve and sagittal kyphosis were corrected from 70° to 21°, and 170° to 75°, respectively.
Lessons:
These findings demonstrated that single-stage posterior-only VCR is efficacious but challenging for revision surgery in post-laminectomy rotokyphoscoliosis associated with late-onset paraplegia.
A case of spinal anesthesia in a patient with progressive supranuclear palsy
Authors: Momoka Tonan, Moritoki Egi, Nana Furushima, Satoshi Mizobuchi
Journal: JA Clin Rep (2018)
Keywords: complication, progressive supranuclear palsy, spinal anesthesia

Progressive supranuclear palsy (PSP) is one of the rare diseases. PSP is characterized by oculomotor dysfunction, postural instability, akinesia, dysarthria, and dysphagia. The major cause of death in patients with PSP is aspiration pneumonia. Considering these complications, spinal anesthesia is useful in patients with PSP. However, the potential harmful effects of spinal anesthesia including neurotoxicity of local anesthetics and neurologic complications for patients with PSP are unclear, because there has been no report. Here, we present spinal anesthesia for a patient with PSP. An 80-year-old man with progressive oculomotor dysfunction, dysphagia, and history of repeated aspiration pneumonia was scheduled for inguinal hernia surgery. Acutely concerning about perioperative pulmonary complications, we performed spinal anesthesia. Fortunately, there was no complication associated with respiration or neural system during perioperative period. We hope our experience and case report will be helpful in specific perioperative anesthetic care for patients with PSP.
Mitral valve replacement and subaortic membrane resection following pneumonectomy
Authors: Melih Hulusi Us, Murat Ugurlucan, Murat Basaran, Ozer Selimoglu, Ali Kocailik
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

The pulmonary status is a vital factor for patients undergoing open heart surgery. The cardiac surgery itself deteriorates the actual pulmonary functions. Today, patients are no longer living with a cardiac disease due to compromised respiratory functions secondary to various pathologies, patients with lung disorders more often seek solutions for their cardiac disease and they are commonly operated. However, the resection of a lobe or a whole lung is a major challenge for the patients planned for cardiac surgery. In this report, we present a 65-year-old patient, who had left pnemonectomy which had been performed 8 years ago and was admitted for mitral valve replacement and subaortic membrane resection.
Diffuse uveitis and chorioretinal changes after yellow fever vaccination: a re-emerging epidemic
Authors: Paula M Marinho, Heloisa Nascimento, Andre Romano, Cristina Muccioli, Rubens Belfort Jr
Journal: Int J Retina Vitreous (2019)
Keywords: puntiform choriocapillaris, uveitis, vaccination, yellow fever
MeSH terms: Case Reports

Background:
With increasing incidence of yellow fever, mass campaign vaccinations are underway and little ophthalmological alterations have been reported in literature, specially regarding non-combined vaccines.
Case presentation:
We report the case of a patient with no previous ocular or systemic diseases whom received a single dose of yellow fever vaccination and developed haematological, hepatic and renal alterations progressing with a later onset bilateral asymmetric diffuse uveitis. Ophthalmological findings included fine keratic precipitates scattered throughout the cornea and mild vitritis. Multimodal evaluation showed subtle puntiform choriocapillaris changes with decreased vascular density associated. The patient had a good visual outcome after mild oral prednisone dose, but the image findings have not presented remission.
Conclusions:
Clinicians should be aware of clinical and subclinical ocular manifestations such as subtle puntiform choriocapillaris changes as possible vaccine-related adverse events with potential to impact vision.
Caudal and Lentiform nuclei Myelinolysis following Endoscopical surgery for pediatric Craniopharyngioma: two cases report and literature review
Authors: Zhi Gang Wang, Lian Ying Jiang, Wen Hao Zhang, Tao Hong
Journal: Chin Neurosurg J (2018)
Keywords: craniopharyngioma, endonasal endoscopic surgery, extrapontine myelinolysis(epm), hypernatremia, siadh
MeSH terms: Case Reports

Background:
The extrapontine myelinolysis (EPM) of osmotic demyelination syndrome (ODS) is a rare and dangerous disorder of the central nervous system. The mechanism is not fully understood and the treatment is controversial. There are few reports of EPM occurred after endonasal endoscopic resection of pediatric craniopharyngioma.
Case presentation:
We report two unusual cases of such a rare condition. Both are procedured uneventful endonasal endoscopical craniopharyngioma resection, after operation, the patients suffered serious diabetic insipidus with remarkable fluctuation of serum sodium though we applied pitutrin continual management to maintain everyday normal urine and correct serum sodium disorder. MR images occured caudal and lentiform nuclei myelinolysis following these serious conditions.
Conclusions:
In this study relevant literatures are reviewed in order to further understand this complication and contribute to the prevention and treatment of EPM caused by inappropriate correction of serum sodium disorder.
Intraoperative pontine infarction: a hidden challenge
Authors: Nicholas Marcanthony, Ehab Farag
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

Apneusis, or apneustic respirations, is characterized by an abnormal breathing pattern involving gasping and the inability to fully expire. A loss of gag reflex and other cranial nerve deficits are also often accompanied with these respiratory changes. In neurological intensive care units (NICUs), these respiratory and airway changes are not uncommon and have been well documented (Lee et al. 1976). These clinical changes are often associated with pontine trauma as it is the core pneumotaxic center in the brain stem. We describe the airway management of a patient with an acute, occult pontine infarct status post craniectomy and cervical laminectomy for decompression of known Chiari malformation in the postanesthesia care unit (PACU).