OpenMed/multicare-articles huggingface dataset:
A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis
Authors: Tadatsugu Kinjo, Keiko Mekaru, Miyuki Nakada, Hayase Nitta, Hitoshi Masamoto, Yoichi Aoki
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri and femurs (-2.1 SD). The fetal estimated body weight was 450 g (-1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.
Infected completely isolated enteric duplication cyst management with percutaneous drainage and surgical excision after retreat of infection: a case report
Authors: Neofytou Kyriakos, Chysochos Andreas, Sammouti Elena, Andreou Charalampos, Georgiou Chrisanthos
Journal: Case Rep Surg (2013)

Duplication cysts (DCs) of alimentary tract are rare congenital malformations. They are firmly attached to the wall of the gastrointestinal tract and they are supplied by surrounding mesenteric blood vessels. More than 80% of cases occur before the age of two years and only a minority of cases present in adulthood. "Completely isolated duplication" of the alimentary tract is an extremely rare variety of gastrointestinal duplications. They have gastrointestinal epithelial and wall characteristics without an anatomic association with the alimentary tract. Their main characteristic is that they have their own blood supply. A 20-year-old male was admitted to our department with symptoms persisting for a period of one week prior to admission, which included abdominal pain, fever, and a palpable abdominal mass. CT revealed an unexplained intraperitoneal abscess. This case represents a rare clinical example of infected isolated duplication cyst managed with percutaneous drainage and surgical excision of the cyst 3 weeks later. To the best of our knowledge, this is the first reported case to use this approach.
Case Report: A 62-Year-Old Woman With Contrast-Induced Encephalopathy Caused by Embolization of Intracranial Aneurysm
Authors: Ying Zhang, Ming Zhou, Dong Wang, Tao Liu, Pengfei Chang, Jie Zhang, Rui Zhang, Yumin Luo, Ping Liu
Journal: Front Surg (2021)
Keywords: aneurysm embolization, cerebral edema, complication of endovascular treatment, computer tomography, contrast-induced encephalopathy
MeSH terms: Case Reports

Contrast-induced encephalopathy (CIE) is a rare complication of endovascular treatment and is extensively reported as a transient and reversible phenomenon. This report describes a 62-year-old woman for embolization of an internal carotid artery (ICA) aneurysm. The operation was successful, but postoperation the patient suffered unconsciousness, blindness, hemiplegia, ophthalmoplegia, fever, and seizures. CT of the brain without the contrast showed widespread edema in the right cerebral hemisphere, which is involved in the frontal, parietal, temporal, and occipital lobes. She was diagnosed with CIE in time and treated with supportive management as soon as possible, and fortunately, the patient improved a benign course and was discharged without any neurological deficits. This study emphasizes the prevention of the CIE and the importance of early diagnosis and symptomatic treatment.
Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family
Authors: Cong Zhou, Yuanyuan Xiao, Hanbing Xie, Jing Wang, Shanling Liu
Journal: Front Genet (2021)
Keywords: dfnb28, triobp, hearing loss, next generation sequencing, variation
MeSH terms: Case Reports

Autosomal recessive non-syndromic deafness-28 (DFNB28) is characterized by prelingual, profound sensorineural hearing loss (HL). The disease is related to variants of the TRIOBP gene. TRIO and F-actin binding protein (TRIOBP) plays crucial roles in modulating the assembly of the actin cytoskeleton and are responsible for the proper structure and function of stereocilia in the inner ear. This study aimed to identify pathogenic variants in a patient with HL. Genomic DNA obtained from a 33-year-old woman with HL was evaluated using a disease-targeted gene panel. Using next generation sequencing and bioinformatics analysis, we identified two novel TRIOBP c.1170delC (p.S391Pfs*488) and c.3764C > G (p.S1255*) variants. Both parents of the patient were heterozygous carriers of the gene. The two variants have not been reported in general population databases or published literature. The findings of this study will broaden the spectrum of pathogenic variants in the TRIOBP gene.
Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster
Authors: Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Charles M Strom, Arturo Anguiano, Maryam Talai, Bryant Nguyen, Fatih Z Boyar
Journal: Mol Cytogenet (2014)
Keywords: digital anomaly, gcp5, mir17hg, skeletal defects, mir-17 ~ 92, mirna
MeSH terms: Case Reports

MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 ~ 92 cluster) contributes to the pathogenesis of a variety of human diseases, including cancer and congenital developmental defects. We report on a 9-year-old boy who presented with developmental delay, autism spectrum disorder, short stature, mild macrocephaly, lower facial weakness, hypertelorism, downward slanting palpebral fissures, brachydactyly, and clinodactyly. SNP-microarray analysis revealed 516 kb microduplication at 13q31.3 involving the entire MIR17HG gene encoding the miR-17 ~ 92 polycistronic miRNA cluster, and the first five exons of the GPC5 gene. Family study confirmed that the microduplication was maternally inherited by the proband and one of his five half-brothers; digit and other skeletal anomalies were exclusive to the family members harboring the microduplication. This case represents the smallest reported microduplication to date at 13q31.3 and provides evidence supporting the important role of miR-17 ~ 92 gene dosage in normal growth and skeletal development. We postulate that any dosage abnormality of MIR17HG, either deletion or duplication, is sufficient to interrupt skeletal developmental pathway, with variable outcome from growth retardation to overgrowth.
Extensive neurological recovery from a complete spinal cord injury: a case report and hypothesis on the role of cortical plasticity
Authors: Ann S Choe, Visar Belegu, Shoko Yoshida, Suresh Joel, Cristina L Sadowsky, Seth A Smith, Peter C M van Zijl, James J Pekar, John W McDonald
Journal: Front Hum Neurosci (2013)
Keywords: diffusion tensor imaging, magnetization transfer imaging, plasticity, resting state fmri, spinal cord injury, trauma
MeSH terms: Case Reports

Neurological recovery in patients with severe spinal cord injury (SCI) is extremely rare. We have identified a patient with chronic cervical traumatic SCI, who suffered a complete loss of motor and sensory function below the injury for 6 weeks after the injury, but experienced a progressive neurological recovery that continued for 17 years. The extent of the patient's recovery from the severe trauma-induced paralysis is rare and remarkable. A detailed study of this patient using diffusion tensor imaging (DTI), magnetization transfer imaging (MTI), and resting state fMRI (rs-fMRI) revealed structural and functional changes in the central nervous system that may be associated with the neurological recovery. Sixty-two percent cervical cord white matter atrophy was observed. DTI-derived quantities, more sensitive to axons, demonstrated focal changes, while MTI-derived quantity, more sensitive to myelin, showed a diffuse change. No significant cortical structural changes were observed, while rs-fMRI revealed increased brain functional connectivity between sensorimotor and visual networks. The study provides comprehensive description of the structural and functional changes in the patient using advanced MR imaging technique. This multimodal MR imaging study also shows the potential of rs-fMRI to measure the extent of cortical plasticity.
Two episodes of ventriculoperitoneal shunt migration in a patient with idiopathic intracranial hypertension
Authors: V Balakrishnan, R Jeanmonod
Journal: Case Rep Emerg Med (2014)

Introduction. Ventriculoperitoneal shunts are often placed as treatment for refractory idiopathic intracranial hypertension. Dislodgement and migration of the distal portion of the shunt are more common in obese patients and can be difficult to detect. We report the case of a woman with two separate episodes of shunt migration into her abdominal wall. Case Presentation. We report a case of a 37-year-old female with history of obesity eventually diagnosed with idiopathic intracranial hypertension (IIH) as the cause. She failed outpatient therapy and, through neurosurgery, had a VP shunt placed for symptom control. She had subsequent development of worsened symptoms that were found to be due to shunt migration. This happened not once but twice to the same patient. Conclusion. Shunt dislodgement, migration, and subsequent failure are common in obese patients who have shunts placed for IIH. The medical provider should maintain a high index of suspicion for shunt malfunction in these patients, particularly because clinical evaluation may be challenging due to habitus.
A Rare Extraskeletal Osteosarcoma Appearing After 55 Years on a Large Stage 3 Burn Scar
Authors: O Vanhooteghem, I Theate
Journal: Case Rep Dermatol Med (2018)
MeSH terms: Case Reports

It is widely accepted that chronic burn wounds may lead to the development of various malignant skin tumors. Deep stage 3 burned areas may facilitate deeper carcinogenesis. Deep tissues are probably less subject to severe insult than is the epithelial layer during physical insult, suggesting that soft tissues transform to a lesser extent during the late stages of tumoral development as in an immunocompromised district with altered local immune defense with both cellular and humoral defense affected. Most authors claim that tumors are almost squamous cell carcinomas, although other types of malignancies such as basal cell carcinoma and, to a lesser extent, melanoma can also be seen. However, malignant transformation of cutaneous soft tissue in a burn insult area has rarely been described. Similarly, burn-induced tumors of histiocytic origin have been reported in few cases and osteosarcoma only in two case reports. Here, we report a patient case suffering from severe large stage 3 burn after-effects on the leg. Fifty-five years after the injury, this patient developed a large extraosseous osteosarcoma on the scar.
Case report and literature review: Isolated HCC- recurrence in gallbladder after curative resection
Authors: Shi-Ran Zhang, Yu Ma, Bo Zhou, Guang-Yao Li, Ping Chen, Geng Chen
Journal: Front Surg (2023)
Keywords: gallbladder (gb) mass, hepatocellular carcinoma (hcc), liver resection, metastasis, recurrence
MeSH terms: Case Reports

Background:
Liver resection (LR) is considered the mainstay treatment for eligible patients with hepatocellular carcinoma (HCC) and provides a 5-year overall survival (OS) of 60%-80%. However, the recurrence rate within five years after LR remains high, ranging from 40% to 70%. Recurrence in gallbladder after liver resection is extremely rare. Here, we present a case of isolated recurrence in gallbladder after curative resection of HCC and review the relevant literature. No similar cases have been reported before.
Case presentation:
A 55-year-old male patient was diagnosed with HCC in 2009 and subsequently underwent a right posterior sectionectomy of the liver. In 2015, the patient underwent liver tumor radiofrequency ablation and three transarterial chemoembolization (TACE) procedures in succession for HCC recurrence. In 2019, a gallbladder lesion was detected by computed tomography (CT) without perceivable intrahepatic focus. We performed an en bloc resection of the gallbladder and hepatic segment IVb. The pathological biopsy suggested that the gallbladder tumor was moderately differentiated HCC. The patient survived more than 3 years in good condition, and there were no signs of tumor recurrence.
Conclusions:
In patients with isolated gallbladder metastasis, if the lesion can be resected en bloc without remnants, surgery should be the preferred option. Both postoperative molecularly targeted drugs and immunotherapy are expected to improve the long-term prognosis.
Subcutaneous Phaeohyphomycosis Due to Pyrenochaeta romeroi Mimicking a Synovial Cyst
Authors: Aurélien Dinh, Bruno Levy, Frédérique Bouchand, Benjamin Davido, Clara Duran, Marin Cristi, Adrien Felter, Jérôme Salomon, Nawel Ait Ammar
Journal: Front Microbiol (2016)
Keywords: pyrenochaeta, fungal infection, immunosuppression, phaeohyphomycosis, surgical treatment

Opportunistic subcutaneous fungal infections are increasing nowadays due to the growing number of medical conditions causing immunosuppression, especially organ transplant. The incidence rate of subcutaneous phaeohyphomycosis is very low. Most studies found are case reports. They showed a wide variation of clinical presentations. Pyrenochaeta romeroi, a fungus from the Dematiaceae group is a saprophyte found in soil and plants and a possible causative agent of phaeohyphomycosis. We present a rare case of subcutaneous phaeohyphomycosis caused by P. romeroi mimicking a synovial cyst in a diabetic patient.
Atypical imaging findings in a renal transplant patient with reversible posterior leukoencephalopathy syndrome: a case report
Authors: Cristina Soler Riera, Leila Haddad, Darío Scocco, Gabriela Fischer, Christian Lopez Saubidet, Paulino A Alvarez
Journal: Cases J (2009)

Background:
Atypical clinical and imaging findings in Reversible Posterior Leukoencephalopathy Syndrome are recognized with increasing frequency.
Case report:
We report a case of an adult in his 5(th )decade immunosupressed with methilprednisolone, tacrolimus and micophenolate who two months after renal transplantation, multiple infections and an episode of humoral rejection became hypertensive with severe headaches, visual field abnormalities, seizures, left hemiparesis and hemineglect. Computed Tomography scan of the brain showed a hypo dense lesion in the left occipital lobe. Ischemic stroke was diagnosed and aspirin and permissive hypertension were indicated. Twelve hours later he developed left sided motor seizures and cortical blindness. Magnetic Resonance Image showed hyper intensity in T2 and FLAIR in both occipital lobes and a small area of cortical restricted diffusion in Diffuson Weighted Images in the left occipital lobe. With a diagnosis of Reversible Posterior Leukoencephalopathy Syndrome his blood pressure was controlled with intravenous labetalol, and two days later the neurologic findings returned to baseline and most Computed tomography findings resolved.
Conclusion:
This case underscores that in the appropriate setting Reversible Posterior Leukoencephalopathy Syndrome should be suspected and the clinician should not be misled by atypical clinical or imaging findings. In contrast to other pathologies that resemble Reversible Posterior Leukoencephalopathy Syndrome, with the right and timely treatment, signs, symptoms and images can be completely reversible.
NIHSS is deficient in acute stroke presenting with cortical deafness; clinical skills remain the backbone: a case report
Authors: Tamer Roushdy, Narges W Mikhail, Shaimaa Ramadan Abdelaziz
Journal: Egypt J Neurol Psychiatr Neurosurg (2023)
Keywords: clinical skills, cortical deafness, deficient nihss, national institutes of health stroke scale, thrombolysis
MeSH terms: Case Reports

Background:
National institutes of health stroke scale (NIHSS) is used, since its appearance in analysis of stroke in any national or international single center or multicenter study. It is also the golden standard assessment scale for stroke patients whether by emergency medical services on the way to hospital or by emergency room staff and by neurologists whether juniors or senior consultants. Yet, it is not capable of identifying all stroke cases. Along the current case report a relatively rare case of cortical deafness is presented highlighting its rarity and its vascular mechanism as well as how defective is NIHSS in recognizing it.
Case presentation:
72-year-old female patient presented with sudden episodic less than 60 min duration of bilateral deafness; initial imaging showed right hemispheric encephalomalacia of old stroke. Patient was initially managed as psychogenic case especially that her NIHSS was zero. On returning again to emergency room she was administered thrombolysis and regained full hearing power. Follow-up imaging revealed a new ischemic stroke along her left auditory cortex explaining her cortical deafness.
Conclusion:
Cortical deafness might be missed especially that NIHSS does not detect it. NIHSS role as the only golden standard scale for diagnosing and following up stroke cases ought to be revised.
Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma
Authors: Michelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, Vinodh Kakkassery, Hartmut Merz, Almuth Caliebe, Malte Spielmann, Mahdy Ranjbar, Felix Rommel
Journal: Front Oncol (2022)
Keywords: gnaq, sf3b1, brachytherapy, case report, ring melanoma, uveal melanoma
MeSH terms: Case Reports

The molecular mechanisms for uveal ring melanoma are still unclear until today. In this case report, we describe a patient with a malignant uveal melanoma with exudative retinal detachment that had been treated with plaque brachytherapy, resulting in successful tumor regression. After 1 year, a ring-shaped recurrence with extraocular extension appeared, and the eye required enucleation. Histological and molecular genetic analyses revealed an epithelioid-cell-type melanoma with complete circumferential involvement of the ciliary body and, so far, unreported GNAQ and SF3B1 mutations in ring melanoma. Therefore, this report gives new genetic background information on this ocular tumor usually leading to enucleation.
Case Report: Orbital metastasis as the presenting feature of lung cancer
Authors: Sunil Munakomi, Samrita Chaudhary, Pramod Chaudhary, Jagdish Thingujam, Bijoy Mohan Kumar, Iype Cherian
Journal: F1000Res (2017)
Keywords: lung cancer, metastasis, orbit

Orbital metastasis from lung cancer as an initial presenting symptom is a rare entity, which may paradoxically delay the diagnosis and initiation of correct management, due to the confusion of it being primary orbital pathology. Herein we report a case of a 58 year old woman, who presented with painful orbital swelling along with diminution in her vision. The patient was initially thought to have a primary eye lesion; however chest X-ray was suggestive of a lung mass, which was confirmed by chest computed topography followed by ultrasound guided fine needle aspiration cytology. The patient was then referred to a cancer centre for further management. This case report aims to increase the knowledge about this metastasis as a probable cause of orbital symptoms in certain subsets of patients, so that correct therapeutic decisions may be made in the future.
Case report: Primary intracranial mucosa-associated lymphoid tissue lymphoma presenting as two primary tumors involving the cavernous sinus and extra-axial dura, respectively
Authors: Shiyun Tian, Tao Pan, Bingbing Gao, Wanyao Li, Jiashen Liu, Kun Zou, Yanwei Miao
Journal: Front Oncol (2023)
Keywords: central nervous system, extranodal marginal zone lymphoma, magnetic resonance imaging, mucosa-associated lymphoid tissue, primary intracranial tumor, treatment
MeSH terms: Case Reports

Primary intracranial mucosa-associated lymphoid tissue (MALT) lymphoma is a rare type of brain tumor, with only a few reported cases worldwide that mostly have only one lesion with conventional magnetic resonance imaging (MRI) findings. Here, we present a special case of intracranial MALT lymphoma with two mass lesions radiographically consistent with meningiomas on MRI before the operation. A 66-year-old woman was admitted to the hospital with intermittent right facial pain for 1 year, aggravated for the last month. Brain MRI showed two extracerebral solid masses with similar MR signal intensity. One mass was crescent-shaped beneath the skull, and the other was in the cavernous sinus area. Lesions showed isointensity on T1WI and T2WI and an intense homogeneous enhancement after contrast agent injection. Both lesions showed hyperintensity in amide proton transfer-weighted images. The two masses were all surgically resected. The postoperative pathology indicated extranodal marginal zone B-cell lymphoma of MALT. To improve awareness of intracranial MALT lymphoma in the differential diagnosis of extra-axial lesions among clinicians, we present this report and briefly summarize previously reported cases to describe the clinical, pathological, radiological, and treatment features.
Nasolabial Ulcerated Placard Revealing a Primary Cutaneous Aggressive Epidermotropic CD8+ T-cell Lymphoma
Authors: J B Ntihebuwayo, F Hali, A Kerouach, H Rachadi, S Chiheb, F Marnissi
Journal: Case Rep Dermatol Med (2022)
MeSH terms: Case Reports

Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma is a rare entity representing less than 1% of cutaneous lymphomas. It has an aggressive clinical manifestation with a poor prognosis. It is characterized by cytotoxic and epidermotropic CD8+ proliferation. It also expresses the TIA-1 marker. We report a new case for its display and aggressive character, diagnostic difficulty, and good therapeutic response to chemotherapy. This is a 62-year-old female patient admitted to the hospital for a nasolabial ulcerated placard evolving for two years. Clinical examination revealed submandibular lymph nodes. The specimen analysis associated with anatomoclinical manifestation was concluded for a primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma. Tumor extent assessment did not show any secondary localization. The blood tests and serology were unremarkable. The patient had benefited from a CHOEP-type multidrug therapy protocol with complete healing of the lesion after three courses of chemotherapy.
Bleeding Follicular Conjunctivitis due to Influenza H1N1 Virus
Authors: Maria Jesus Lopez-Prats, Empar Sanz Marco, Juan Jose Hidalgo-Mora, Salvador Garcia-Delpech, Manuel Diaz-Llopis
Journal: J Ophthalmol (2010)
MeSH terms: Case Reports

Influenza H1N1 or A virus is a new virus serotype capable of human-to-human transmission. This infection causes a flu syndrome similar to that of seasonal influenza, with only one case of conjunctivitis described and no clinical details or microbiological confirmation. Its diagnosis is performed by PCR of pharyngeal smear of the patients affected. We report the first well-documented case in the medical literature of conjunctivitis by H1N1 virus.