OpenMed/multicare-articles huggingface dataset:
Reversible dilatation of lumbar epidural venous plexus secondary to pelvic venous compression: mimicker of pathology
Authors: August S Tuan, S Ali Nabavizadeh, Bryan Pukenas, Suyash Mohan, Kim O Learned
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Radiculopathy from dilated epidural varices is a rarely recognized phenomenon, and engorged varices may mimic a disc herniation, fistula or mass. We report a case of a distended bladder causing reversible pelvic venous congestion and resultant epidural venous plexus engorgement. We show marked engorgement of the epidural venous plexus and crowding of the cauda equina from a markedly distended bladder with resolution of these findings following bladder decompression. Familiarity with this clinical entity is crucial to avoid misdiagnosis and to prevent potential unnecessary surgical intervention.
Progressive Multifocal Leukoencephalopathy in a Multiple Sclerosis Patient Diagnosed after Switching from Natalizumab to Fingolimod
Authors: Tim Sinnecker, Jalal Othman, Marc Kühl, Imke Metz, Thoralf Niendorf, Annett Kunkel, Friedemann Paul, Jens Wuerfel, Juergen Faiss
Journal: Case Rep Neurol Med (2016)

Background. Natalizumab- (NTZ-) associated progressive multifocal leukoencephalopathy (PML) is a severe and often disabling infectious central nervous system disease that can become evident in multiple sclerosis (MS) patients after NTZ discontinuation. Recently, novel diagnostic biomarkers for the assessment of PML risk in NTZ treated MS patients such as the anti-JC virus antibody index have been reported, and the clinical relevance of milky-way lesions detectable by MRI has been discussed. Case Presentation and Conclusion. We report a MS patient in whom PML was highly suspected solely based on MRI findings after switching from NTZ to fingolimod despite repeatedly negative (ultrasensitive) polymerase chain reaction (PCR) testing for JC virus DNA in cerebrospinal fluid. The PML diagnosis was histopathologically confirmed by brain biopsy. The occurrence of an immune reconstitution inflammatory syndrome (IRIS) during fingolimod therapy, elevated measures of JCV antibody indices, and the relevance of milky-way-like lesions detectable by (7 T) MRI are discussed.
Hepatic metastasis of thymoma: case report and immunohistochemical study
Authors: Daniela Speisky, María Teresa García de Davila, Felix Vigovich, Julian Mendez, Rafael Maurette, Marcos García Ejarque, Juan Carlos Spina, Alejandro Iotti, Pablo Dezanzo
Journal: Ecancermedicalscience (2016)
Keywords: hepatic metastasis, metastasis of thymoma, thymoma
MeSH terms: Case Reports

Thymomas are rare tumours characterised by their slow growth and capacity to invade directly by contiguity. While distant dissemination is infrequent, all sub-types of thymoma have the capacity to metastasise to extrathoracic organs. We present here the case of a female patient with a liver mass discovered 13 years after the removal of a mediastinal thymoma and after ten years from thyroidectomy for papillary carcinoma. The histopathological study showed that the lesion contained an epithelial component, which was immunohistochemically positive for pankeratin. It was accompanied by numerous small lymphocytes testing positive for TdT, CD3, CD4, CD5, CD8, CD99, and CD43. The result was consistent with hepatic metastatic thymoma sub-type B1, according to the World Health Organisation classification (WHO). Our case highlights the importance of morphological and immunohistological examinations in the differential diagnosis of visceral masses in patients with a history of thymoma. Given the infrequency of its metastasis and the increased risk of developing other primary tumours that these patients have, these studies play a significant role.
Management of an Acute Airway Obstruction Due to Tracheal Carcinoma in a Patient With Severe Glottic Stenosis
Authors: Lentiona V Basiari, Maria C Michali, Ioannis D Komnos, Eleni V Litsou, Georgios V Psychogios
Journal: Cureus (2023)
Keywords: airway obstruction, dyspnea, endotracheal debulking, second primary malignancy, squamous cell carcinoma, surgery, tracheal malignancy
MeSH terms: Case Reports

In this paper, we present the case of acute airway obstruction due to tracheal carcinoma in a patient with glottic stenosis due to previously treated laryngeal carcinoma. Because of severe dyspnea from the obstructive endotracheal mass, tracheotomy under local anesthesia was immediately performed. Intubation with pediatric size (I.D. 4.5 mm) cuffed endotracheal tube was performed by the surgeon through tracheostomy under endoscopic visualization. Blakesley forceps and electrocautery were used for tumor debulking. Postoperatively there were no complications and the patient was discharged after four days. The histopathology report showed a squamous cell carcinoma. The tumor board decided on adjuvant chemoradiotherapy for the treatment of the patient.
Case Report: A 72-Year-Old Woman With Progressive Motor Weakness, Dry Eyes and High Levels of Serum Neurofilament Light Chain
Authors: Maria Janina Wendebourg, Jens Kuhle, Martin Hardmeier
Journal: Front Neurol (2022)
Keywords: amyotrophic lateral sclerosis, c9orf 72, sjögren's disease, case report, neuromuscular disorders, peripheral neuropathies, serum neurofilament light chain (snfl)
MeSH terms: Case Reports

Background:
Diagnosis of Amyotrophic Lateral Sclerosis (ALS) is challenging as initial presentations are various and diagnostic biomarkers are lacking. The diagnosis relies on the presence of both upper and lower motor neuron signs and thorough exclusion of differential diagnoses, particularly as receiving an ALS diagnosis has major implications for the patient. Sjögren's syndrome may mimic peripheral ALS phenotypes and should be considered in the work-up.
Case:
A 72-year-old female presented with a mono-neuropathy of the right leg and a complaint of dry eyes and mouth. Initial diagnostic work-up confirmed a regional sensorimotor neuropathy and a Sjögren's syndrome; a causal relationship was assumed. However, motor symptoms spread progressively despite immunosuppressive treatment, eventually including both legs, both arms and the diaphragm. Clinically, unequivocal central signs were lacking, but further along in the disease course, the atrophy pattern followed a split phenotype and deep tendon reflexes were preserved. Nerve biopsy did not show vasculitic infiltration; however, serum neurofilament light chain (sNfL) concentrations were and remained persistently highly elevated despite immunosuppressive treatment. Electrodiagnostic re-evaluation confirmed denervation in 3 regions. A diagnosis of familial ALS was finally confirmed by a C9orf 72 repeat expansion. Stationary sensory symptoms were best explained by a neuropathy associated with concomitant Sjögren's syndrome.
Discussion:
Our instructive case shows the difficulties of diagnosing ALS in the setting of a peripheral symptom onset and a concurrent but unrelated condition also causing neuropathy. Such cases require high clinical vigilance and readiness to reappraise diagnostic findings if the disease course deviates from expectation. Recently proposed simplified diagnostic criteria, genetic testing and body fluid biomarkers such as sNfL may facilitate the diagnostic process and lead to an earlier diagnosis of ALS.
Very rare localization of a retroperitoneal hemangiopericytoma revealed by lumbosciatalgia: A case report
Authors: Amine Chhaidar, Skandar Zouari, Ahlem Bdioui, Moncef Mokni, Ali Ben Ali
Journal: Int J Surg Case Rep (2018)
Keywords: case report, hemangiopericytoma, neoplasm, retroperitoneal space, vascular tissue

Introduction:
Hemangiopericytoma is a rare vascular tumor representing about 1% of all vascular tumors and approximatively 5% of all soft tissues sarcomas that arises from the pericytes of Zimmerman surrounding capillaries and postcapillaries vessels. Retroperitoneal hemangiopericytomas are rare among the localisations as it usually occurs in lower and upper extremities.
Presentation of case:
We present a case of 31-year-old man with a well-defined retro peritoneal mass measuring about 105 × 73 × 83 mm at right lower quadrant of the abdomen anterior to right psoas muscle. Intraoperatively, an large mass measuring 10 × 8 cm was found arising from the retro peritoneum. A monobloc excision was performed. The postoperative course was uneventful. Histopathological examination with immune histochemistry revealed that tumoral cells were positive for desmin, CD34, smooth muscular antigen. Final diagnosis of hemangiopericytoma was made. On the last follow up at one year, he was symptom free.
Discussion:
Hemangiopericytoma is a rare tumor. It takes origin from pericytes presenting as intervals along the walls of capillaries and post-capillary venules. Retroperitoneal hemangiopericytoma is a rare location. It is often discovered at late course, and can be revealed by various symptoms with the compression of the adjacent organs by the tumor Surgical resection should be considered in symptomatic cases or in case of diagnostic dilemma.
Conclusion:
Retroperitoneal hemangiopericytoma can be benign but it should be treated the same way as aggressive tumors. It requires a careful and long term follow up.
A case of mixed-pattern calcifications in multinodular goiter associated with a benign diagnosis
Authors: D Bianchi, U Morandi, A Stefani, B Aramini
Journal: Int J Surg Case Rep (2019)
Keywords: benign lesion, calcifications, calcified nodules, endoscopic ultrasound, malignant nodules

Background:
Calcified nodules are often found in a goiter when performing an ultrasound of the neck. An analysis of different calcification patterns could contribute to discriminating between nodules with a lower malignancy risk and those with a higher malignancy risk. In certain cases, the results of a simple cytological analysis of a nodule are not specific enough to be completely trusted.
Case presentation:
We present the case of a goiter with a mixed calcification pattern, including a type of calcification that is strongly associated with a malignant diagnosis, for which a completely benign diagnosis was determined.
Conclusion:
We believe that further studies examining a combination of ultrasound (US) and computed tomography (CT) scan presentations of thyroid nodules need to be performed.
Incidence of Gastrointestinal Neuroendocrine Tumor: Case Series, Armed Forces Hospital Southern Region, Hospital-Based Tumor Board Registry
Authors: Abdullah Mohammed Albishi, Ahmed Mostafa Mohamed Mostafa, Hatim Mahgoub Ali, Yahia Atiah Alhagawi, Mohamed F Bazeed, Mahmoud R A Hussein, Elshfeia Elhag Mohmed Ali Aloba, Ahmed Youssef Aboelyazid
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Neuroendocrine tumors are aggressive and rare tumors which can occur almost everywhere in the body. The annual incidence of neuroendocrine tumors is 2.5-5 per 100000. We report seven cases of gastrointestinal neuroendocrine tumors which were diagnosed and treated at our hospital from the time period of 2016-2018 knowing that the total number of our hospital tumor board cases registry during the same period was 444 cases.
Investigating the Improvement of Decoding Abilities and Working Memory in Children with Incremental or Entity Personal Conceptions of Intelligence: Two Case Reports
Authors: Marianna Alesi, Gaetano Rappo, Annamaria Pepi
Journal: Front Psychol (2016)
Keywords: case report, children, dyslexia, intervention program, learning disabilities, personal conceptions of intelligence, working memory
MeSH terms: Case Reports

One of the most significant current discussions has led to the hypothesis that domain-specific training programs alone are not enough to improve reading achievement or working memory abilities. Incremental or Entity personal conceptions of intelligence may be assumed to be an important prognostic factor to overcome domain-specific deficits. Specifically, incremental students tend to be more oriented toward change and autonomy and are able to adopt more efficacious strategies. This study aims at examining the effect of personal conceptions of intelligence to strengthen the efficacy of a multidimensional intervention program in order to improve decoding abilities and working memory. Participants included two children (M age = 10 years) with developmental dyslexia and different conceptions of intelligence. The children were tested on a whole battery of reading and spelling tests commonly used in the assessment of reading disabilities in Italy. Afterwards, they were given a multimedia test to measure motivational factors such as conceptions of intelligence and achievement goals. The children took part in the T.I.R.D. Multimedia Training for the Rehabilitation of Dyslexia (Rappo and Pepi, 2010) reinforced by specific units to improve verbal working memory for 3 months. This training consisted of specific tasks to rehabilitate both visual and phonological strategies (sound blending, word segmentation, alliteration test and rhyme test, letter recognition, digraph recognition, trigraph recognition, and word recognition as samples of visual tasks) and verbal working memory (rapid words and non-words recognition). Posttest evaluations showed that the child holding the incremental theory of intelligence improved more than the child holding a static representation. On the whole this study highlights the importance of treatment programs in which both specificity of deficits and motivational factors are both taken into account. There is a need to plan multifaceted intervention programs based on a transverse approach, considering both cognitive and motivational factors.
Descending Thoracic Aortic Aneurysm due to Brucella melitensis
Authors: Mohammed Alsheef, Saud Alsaleh, Nahar Alanezi, Nizar Bakhsh, Rana AlDosary, Lina AlSharif, Arshad Mian, Azeem Ahsan, Isamme AlFayyad
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Brucellosis is an endemic infection mainly in the Middle East and the Mediterranean region that can involve any system. However, cardiovascular involvement commonly seen as endocarditis is a rare occurrence, but it is one of the main causes of mortality and morbidity. Brucella mycotic aneurysms are extremely rare and carry a higher morbidity and mortality. Here, we present a case of Brucella mycotic aneurysms in the descending aorta complicated by an aortoesophageal fistula in a 52-year-old diabetic man. The diagnosis was made by thoracic CT angiogram showing a saccular aneurysm arising from the descending aorta and two positive cultures of Brucella melitensis. Transthoracic and transesophageal echocardiograms ruled out infective endocarditis. Aortoesophageal fistula complicating a Brucella mycotic aneurysm in the absence of evidence of endocarditis has not yet been reported in the literature.
Juvenile Dermatomyositis (JDM) Complicated by Thrombotic Thrombocytopenic Purpura (TTP) and Purtscher's Retinopathy Responsive to Rituximab: Case Report and Literature Review
Authors: Keerthi Gullapalli, Ofra Goldzweig, Kabita Nanda, Ravi Chekka, Shanail Berry, Hulya Bukulmez
Journal: Front Pediatr (2020)
Keywords: adamts13, ttp, juvenile dermatomyositis, purtscher's retinopathy, rituximab, vwf
MeSH terms: Case Reports

Juvenile dermatomyositis (JDM) is a multisystem vasculopathy that infrequently presents with acute complications (1). We report here the case of a 12-year-old girl with JDM who developed Thrombotic Thrombocytopenic purpura (TTP) and Purtscher's retinopathy. This is the second pediatric case of JDM with TTP and Purtscher's retinopathy in the literature. The diagnosis of JDM was based on her clinical presentation (fever, myalgia, proximal muscle weakness, characteristic skin rash and elevated muscle enzymes) (2). Despite improvement of rash, fever and weakness with corticosteroids and intravenous Immunoglobulins (IVIG), the patient developed retinopathy, thrombocytopenia, hemolytic anemia, renal failure, and pulmonary edema within 1 week of initial treatment. A clinical diagnosis of TTP and Purtscher's retinopathy was made and her ADAMTS13 activity was found to be low. Regardless of aggressive treatment with pulse steroid therapy, IVIG, plasmapheresis along with multiple infusions of Fresh Frozen plasma (FFP), her condition deteriorated. In view of her worsening condition, she received one dose of Rituximab and within 48 h, her hematological and retinal involvements improved. Rituximab was given at the same dose once weekly thereafter for 4 total doses. Her disease process was halted, and retinopathy improved significantly in 48 h and continued to gradually improve over 3 weeks of maintenance therapy with cyclosporine, methotrexate, and IVIG and then stabilized. This report documents the association of TTP and Purtscher's retinopathy with JDM, emphasizing that early recognition and prompt treatment with rituximab along with the current standard of care treatment i.e., Vincristine, corticosteroids and plasmapheresis could be of potential benefit in controlling disease activity.
Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
Authors: John E Griniatsos, Nikoletta Dimitriou, Athanassios Zilos, Stratigoula Sakellariou, Konstantinos Evangelou, Smaragda Kamakari, Penelope Korkolopoulou, Gregory Kaltsas
Journal: World J Surg Oncol (2011)
MeSH terms: Adrenal Cortex Neoplasms / genetics, Adrenocortical Carcinoma / genetics, Germ-Line Mutation / genetics, Multiple Endocrine Neoplasia Type 1 / genetics, Proto-Oncogene Proteins / genetics, Case Reports, Adrenal Cortex Neoplasms / pathology, Adrenocortical Carcinoma / pathology, Adult, Exons / genetics, Female, Humans, Multiple Endocrine Neoplasia Type 1 / pathology, Multiple Endocrine Neoplasia Type 1 / surgery, Prognosis, MEN1 protein, human, Proto-Oncogene Proteins

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.
Isolated neurological presentations of mevalonate kinase deficiency
Authors: Eva M M Hoytema van Konijnenburg, Esmeralda Oussoren, Joost Frenkel, Peter M van Hasselt
Journal: JIMD Rep (2022)
Keywords: ataxia, autoinflammation, mevalonate kinase deficiency, mevalonic acid, psychomotor delay
MeSH terms: Case Reports

Mevalonate kinase (MK) deficiency is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the MVK gene with a broad phenotypic spectrum including autoinflammation, developmental delay and ataxia. Typically, neurological symptoms are considered to be part of the severe end of the phenotypical spectrum and are reported to be in addition to the autoinflammatory symptoms. Here, we describe a patient with MK deficiency with severe neurological symptoms but without autoinflammation and we found several similar patients in the literature. Possibly, the non-inflammatory phenotype is related to a specific genotype: the MVK p.(His20Pro)/p.(Ala334Thr) variant. There is probably an underdetection of the neurological MK deficient phenotype without inflammatory symptoms as clinicians may not test for MK deficiency when patients present with only neurological symptoms. In conclusion, although rare, neurological symptoms without hyperinflammation might be more common than expected in MK deficiency. It seems relevant to consider MK deficiency in patients with psychomotor delay and ataxia, even if there are no inflammatory symptoms.
Intrapartum Asphyxiated Newborns Without Fetal Heart Rate and Cord Blood Gases Abnormalities: Two Case Reports of Shoulder Dystocia to Reflect Upon
Authors: Gina Ancora, Claudio Meloni, Silvia Soffritti, Fabrizio Sandri, Emanuela Ferretti
Journal: Front Pediatr (2020)
Keywords: asphyxia, cardiac asystole theory, hypovolemia, hypoxic ischemic encephalopathy, intact cord resuscitation, shoulder dystocia
MeSH terms: Case Reports

Our report covers two cases of severe hypoxic-ischemic encephalopathy in newborns whose birth was complicated by shoulder dystocia. In both cases, there were inconsistencies observed among cardiotocographic traces, baby's clinical conditions at birth, and umbilical cord blood gases. Namely, normal cardiotocographic monitoring and cord pH > 7, in spite of the fact that the newborns were severely depressed at birth and their blood gases evaluated within 1 h from birth showed a severe metabolic acidosis. Moreover, one of the two newborns displayed moderately low hemoglobin levels. Metabolic and infectious causes were ruled out. Both newborns developed severe hypoxic-ischemic encephalopathy and received therapeutic hypothermia for 72 h. Both survived, one with a severe dystonic cerebral palsy whereas the other developed only a mild developmental delay in language. Cardiac asystole theory could explain these two cases, reinforcing the need for specific resuscitation guidelines for infants experiencing a birth complicated by shoulder dystocia.
Folie a deux: a case report
Authors: Sobia Haqqi, Nisreen Ali
Journal: F1000Res (2012)

Folie a deux, to date, remains a rare, yet a challenging psychiatric diagnosis. We discuss two cases that were identified in our out-patient clinics. One case was lost to follow up, while the other one showed improvement over time with appropriate management.
Conclusion:
As with any rare disorder, recognition and correct referral for rare diagnosis like folie a deux is of paramount importance.
Congenital melanocytic nevus of upper eyelid
Authors: Dinesh Singh Chauhan, Yadavalli Guruprasad
Journal: J Cutan Aesthet Surg (2011)
Keywords: congenital melanocytic nevus, reconstruction, upper eyelid
MeSH terms: Case Reports

Congenital nevi are present in approximately 2-3% of neonates. These lesions are present at birth. They are characterized by pigmented lesions with regular margins, smooth or lobular surfaces and occasionally have long coarse hair. The risk of melanoma development is proportional to the size, especially if it involves over 5% of the body surface, or is > 20 cm in adolescents (large/giant congenital nevus). The risk of malignant change ranges from 5-40%. We present a case of a congenital melanocytic nevus in a six-year-old female child which was surgically treated.
Spinal Clear Cell Meningioma: Atypical Clinical and Radiological Manifestations
Authors: Mohammad Nasser Alsadiq, Zainab Shaker Albarbari, Fatimah Alshakhs, Muath Ali Alduayji, Shaymaa Al-Umran, Abdulrahman Alenzi
Journal: Case Rep Surg (2021)
MeSH terms: Case Reports

Meningioma has many subtypes with clear cell meningioma being more aggressive than other variants of meningioma and one of the rarest. We report a case of spinal clear cell meningioma that occurred in a 25-year-old lady who presented with the inability to be in the supine position. A magnetic resonance image showed an intradural mass extending from L1 to L4. Near complete excision was done. The patient had motor weakness postoperatively which improved gradually. A histopathological study showed a clear cell meningioma. In a differential diagnosis of any space-occupying lesion of the spine, clear cell meningioma should be considered though it is a rare form of meningioma due to its potential to recure. An accurate follow-up is warranted.