OpenMed/multicare-articles huggingface dataset:
Foreign bodies in children's lower urinary tract: A case series and literature review
Authors: Tongshuai Kuang, Wei Cai, Weite Qian, Xiaokun Lin
Journal: Front Pediatr (2023)
Keywords: children, cystoscopy, foreign bodies, lower urinary tract, surgery

Background:
Children with foreign bodies (FBs) in the lower urinary tract have rarely been reported, and their management remains challenging. This study aimed to describe the characteristics and treatment of FBs in children's lower urinary tract.
Methods:
We retrospectively analyzed the clinical data on lower urinary tract FBs that were removed in our hospital from August 2017 to August 2022, including demographics, location, symptoms, imaging examinations, and treatment.
Results:
Four male patients were enrolled, whose ages ranged from 9 to 13 years, with a mean age of 11 years. The course of the disease ranged from 3 h to 2 weeks. Their imaging characteristics were reviewed and analyzed, and two FBs were located in the bladder and two in the urethra. Mosquito forceps were used to remove an acne needle through the urethra in one case. Cystoscopy was first attempted in three cases, in only one of which was the FB removed successfully under endoscopic minimally invasive surgery. In the remaining two cases, removal via transurethral cystoscopy failed, whereby leading to cystotomy being performed. The FBs comprise a skipping rope, hairpin, magnetic bead, and acne needle. The postoperative recovery was uneventful, and no complications occurred during the follow-up period of 3 to 6 months.
Conclusion:
It is rare for children to have FBs in the lower urinary tract. An early diagnosis, as well as appropriate management of lower urinary tract FBs, can significantly reduce complications. Surgical removal of lower urinary tract FBs can be safe and effective, and relatively better outcomes can be achieved.
Free Intraperitoneal Gallstone: An Unusual Case of Small Bowel Obstruction from Extrinsic Compression
Authors: Kor Woi Tiang, Hang Fai So, Yang Hwang, Manjunath Siddaiah-Subramanya
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Laparoscopic cholecystectomy (LC) is preferred in the treatment of symptomatic cholecystolithiasis. Gallstone spillage is not uncommon, and there have been reports of associated complications. We report a case of a free intraperitoneal gallstone, left inadvertently during LC, which developed an inflammatory phlegmon with abscess containing gallstone, causing extraluminal compression on the distal ileum, resulting in small bowel obstruction. This complication in particular is almost unheard of. The patient underwent laparoscopic drainage of abscess and retrieval of gallstone, which relieved the obstruction. Clinicians, therefore, need to keep an open mind in the workup for bowel obstruction. During LC, gallstone spillage should be prevented and retrieved whenever possible to minimize early and late complications associated with it.
Incidental Diagnosis of Oligosymptomatic Bilateral Perirenal Erdheim-Chester Disease during Emergency Investigation for COVID-19 Infection
Authors: Juliano Cordova Vargas, Caio Cardozo, Renata Stanzione, Lucas Fiore, Felipe D'Almeida Costa, Rodrigo Fonseca Abreu, Nelson Hamerschlak, Guilherme Perini
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

Erdheim-Chester disease (ECD), a rare form of non-Langerhans histiocytosis, is a multisystem disorder. The case reported here refers to a 49-year-old man presenting at the emergency room with respiratory symptoms. While undergoing diagnostic tests for COVID-19 infection, tomography revealed asymptomatic bilateral perirenal tumors, while renal function remained unaltered. ECD was suggested as an incidental diagnosis and confirmed by core needle biopsy. This report provides a brief description of the clinical, laboratory, and imaging findings in this case of ECD. This diagnosis, albeit rare, should be taken into consideration in the context of incidental findings of abdominal tumors to ensure that treatment, when required, is instituted early.
Two Rare Diseases, One Patient: A Case Report of Mucormycosis and Granulomatous Polyangiitis
Authors: Syeda Aasia Batool, Usha Kumari, Salim Surani
Journal: Case Rep Infect Dis (2023)
MeSH terms: Case Reports

Mucormycosis is a rare but fatal disease caused by a filamentous fungus involving the nose, paranasal sinuses, and brain. These organisms usually cause severe infections in immunocompromised individuals. Granulomatous polyangiitis (GPA), also known as Wegner's granulomatosis, is a rare, aseptic necrotizing granulomatous vasculitis involving small and medium-sized vessels commonly affecting the nose, ears, lungs, and kidneys. The simultaneous occurrence of mucormycosis and GPA, two rare diseases, in the same patient is exceedingly rare. In this case study, we describe a 40-year-old woman who presented with manifestations of both GPA and mucormycosis. She was started with steroids and antifungal agents and achieved significant improvement.
Some rare presentations of hydatid cysts: two case reports
Authors: Syed H Zaidi
Journal: Cases J (2009)

Hydatid disease is a considerable health problem worldwide. Two case reports of relatively uncommon presentations of the disease are presented.The first case is that of a 25 years old female from region of Afghanistan that borders Pakistan's Baluchistan province. She presented with cough, hemoptysis and left hypochondrium pain due to concurrent involvement of the right lung and the spleen due to hydatid disease, whilst sparing the liver.The second case is that of a 32 years male from the same region of Afghanistan as above. He presented with upper abdominal discomfort, postprandial vomiting and jaundice due to a hydatid cyst involving the head of the pancreas only.
Vitamin B12 deficiency: case report and review of literature
Authors: Brahim El Hasbaoui, Nadia Mebrouk, Salahiddine Saghir, Abdelhkim El Yajouri, Rachid Abilkassem, Aomar Agadr
Journal: Pan Afr Med J (2021)
Keywords: vitamin b12 deficiency, breastfeeding, case report, pallor, psychomotor regression
MeSH terms: Dietary Supplements, Vitamin B 12 / administration & dosage, Vitamin B 12 Deficiency / diagnosis, Case Reports, Review, Breast Feeding, Female, Humans, Infant, Male, Muscle Hypotonia / etiology, Pregnancy, Prenatal Care, Vitamin B 12 Deficiency / drug therapy, Vitamin B 12

Vitamin B12 deficiency in early childhood is an important cause of neurodevelopmental delay and regression. Most of these cases occur in exclusively breast-fed infants of deficient mothers. Symptoms and signs of vitamin B12 deficiency appear between the ages of 2 to 12 months and include vomiting, lethargy, failure to thrive, hypotonia, and arrest or regression of developmental skills. Approximately one half of this cases exhibit abnormal movements, variously described as tremors, twitches, chorea, or myoclonus. Urinary concentrations of methylmalonic acid and homocysteine are characteristically elevated in vitamin B12 deficiency. Hyperglycinuria is sometimes present. The early diagnosis and treatment of vitamin B12 deficiency is crucial for significant neurological impairment and long-term prognosis. Treatment with vitamin B12 corrects these metabolic abnormalities very rapidly (within a few days). Vitamin B12 supplementation of pregnant women may prevent neurological and neuroradiological findings of the infants. Because of the importance of vitamin B12 in the development of the foetal and neonatal brain, vegetarian and vegan mothers should be aware of the severe and not fully-reversible damages caused by insufficient nutritional intake of vitamin B12 during pregnancy and lactation. Therefore, efforts should be directed to prevent its deficiency in pregnant and breastfeeding women on vegan diets and their infants. It is also important to take the nutritional history of both infants and their mothers for the early prevention and treatment. Here an interesting case of vitamin B12 deficiency in a 10-month-old boy presented with psychomotor regression, hypotonia and lethargy.
Benign mucinous tumor of ovary with a sarcoma-like mural nodule: a case report
Authors: Sailabala Garikaparthi, Renuka Inuganti Venkata, Krishna Bharathi Yarlagadda, Annapurna Parvatala
Journal: Case Rep Oncol Med (2012)

Sarcoma-like mural nodules occur predominantly in middle-aged women. Distinction of these lesions from true sarcomatous nodules and foci of anaplastic carcinoma is important because of the worse prognosis of these tumors in comparison with the favorable behavior of sarcoma-like mural nodules. In this report we describe the case of a 35-year-old woman with a mucinous ovarian tumor having a mural nodule in the wall.
Guillain-Barré Syndrome with Fatal Outcome during HIV-1-Seroconversion: A Case Report
Authors: Emanuele Pontali, Marcello Feasi, Maria Paola Crisalli, Giovanni Cassola
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

Guillain-Barré syndrome (GBS) is an acute or subacute peripheral polyneuropathy characterized by symmetrical muscle weakness. Its occurrence has been reported during acute HIV seroconversion since 1985. Among HIV-infected subjects, GBS has generally a favourable outcome. We report a case of GBS with fatal outcome during HIV seroconversion.
Pulsed radiofrequency of lumbar dorsal root ganglion for chronic postamputation phantom pain
Authors: Farnad Imani, Helen Gharaei, Mehran Rezvani
Journal: Anesth Pain Med (2012)
Keywords: phantom limb, pulsed radiofrequency treatment, spinal ganglia
MeSH terms: Case Reports

Chronic pain following lower-limb amputation is now a well-known neuropathic, chronic-pain syndrome that usually presents as a combination of phantom and stump pain. Controlling these types of neuropathic pain is always complicated and challenging. If pharmacotherapy does not control the patient's pain, interventional procedures have to be taken. The aim of this study was to evaluate the efficacy of using pulsed radiofrequency (PRF) on the dorsal root ganglia at the L4 and L5 nerve roots to improve phantom pain. Two patients with phantom pain were selected for the study. After a positive response to segmental nerve blockade at the L4 and L5 nerve roots, PRF was performed on the L4 and L5 dorsal root ganglia. Global clinical improvement was good in one patient, with a 40% decrease in pain on the visual analogue scale (VAS) in 6 months, and moderate in the second patient, with a 30% decrease in pain scores in 4 months. PRF of the dorsal root ganglia at the L4 and L5 nerve roots may be an effective therapeutic option for patients with refractory phantom pain.
Case Report: Postacute Rehabilitation of Guillain-Barré Syndrome and Cerebral Vasculitis-Like Pattern Accompanied by SARS-CoV-2 Infection
Authors: Stefano Colonna, Luciana Sciumé, Federico Giarda, Alessandro Innocenti, Giovanna Beretta, Davide Dalla Costa
Journal: Front Neurol (2021)
Keywords: guillain-barré syndrome, sars-cov-2, cerebral vasculitis, polyradiculonevritis, rehabilitation
MeSH terms: Case Reports

Introduction: The main clinical manifestation of the novel Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) is respiratory issues. Neurological manifestations are being increasingly recognized, including febrile seizures, headache, dizziness, and myalgia, as well as encephalopathy, encephalitis, stroke, and acute peripheral nerve diseases. Cerebral vasculitis is rarely reported. We describe a case of SARS-CoV-2 interstitial pneumonia complicated by flaccid tetraplegia due to Guillain-Barré Syndrome (GBS) associated with a cerebral vasculitis-like pattern. Case description: A 62-year-old man was hospitalized for cough, fever, and severe respiratory failure requiring tracheal intubation and invasive ventilation. The chest Computerized Tomography (CT) showed images related to interstitial pneumonia and the subsequent nasopharyngeal swab confirmed the presence of SARS-CoV-2 infection. During the hospitalization, there was a progressive deterioration of the senses associated with areflexic flaccid tetraplegia. The treatment with high doses of immunoglobulin G (IgG) led to the immediate improvement of the general conditions and a partial response in terms of recovery of the upper limb and of the distal lower limb movements. Subsequently the patient was admitted to our Rehabilitation Unit, where he received an intensive rehabilitation treatment consisting of physiotherapy and occupational therapy. Two months later the patient was discharged at home and able to walk independently even for long distances thanks to the use of Ankle-Foot Orthosis (AFO). Conclusion: In this report, we present the case of a patient with peripheral and central neurological damage occurred later severe pneumonia induced by SARS-CoV-2. The Immunoglobulin G therapy allowed the patient to benefit considerably from early rehabilitation, reaching the walking, increasing the independence in daily living tasks, and enabling safe discharge from hospital to home. Related neurologic complications of SARS-CoV-2 infection suffer a lack of understanding and further investigations should be conducted.
Perineal Groove: Report of Two Cases and Review of the Literature
Authors: Huiyan Cheng, Zhichao Wang, Qiang Zhao, He Zhu, Tianmin Xu
Journal: Front Pediatr (2018)
Keywords: congenital abnormality, neonatal, perineal groove, perineal raphe, treatment
MeSH terms: Case Reports

Perineal groove is a rare anoperineal congenital malformation disease that usually affects newborn females. It is unknown to many clinicians, which usually leads to misdiagnosis. The pathogenesis of perineal groove is not clear, and there are few cases reported in the current medical literature. Perineal grooves in two newborn babies were described in this report, and the literature on perineal groove was also reviewed and analyzed to improve the recognition of this disease.
Frontotemporal Lobe Degeneration as Origin of Scans Without Evidence of Dopaminergic Deficit
Authors: Manuel Menéndez-González, Tania Álvarez-Avellón, José M Salas-Pacheco, Benito de Celis-Alonso, Kathryn A Wyman-Chick, Oscar Arias-Carrión
Journal: Front Neurol (2018)
Keywords: dopamine transporter-single, frontotemporal lobar degeneration, parkinsonism, photon emission computed tomography, presynaptic dopaminergic deficiency, scans without evidence of dopaminergic deficit

The term scans without evidence of dopaminergic deficit (SWEDD) can be associated with any patient diagnosed at first with Parkinson's disease but with a negative dopamine transporter-single photon emission computed tomography (DaTSPECT), which does not confirm the presynaptic dopaminergic deficiency. Therefore, an alternative diagnosis should be sought to support parkinsonism as a clinical diagnosis. Parkinsonism is a well-known manifestation of frontotemporal lobar degeneration (FTLD), particularly frequent in those with positive DaTSPECT. Here, we reinforce previous observations that parkinsonism can be present in FTLD patients with negative DaTSPECT and therefore, FTLD may account for a percentage of patients with SWEDD. We gather the clinical observations supporting this hypothesis and describe a case report illustrating this idea. Studies suggest the result of DaTSPECT in FTLD may depend on the neuropathology and clinical subtype. However, most studies do not provide a clinical description of the clinical subtype or pathological features making the association between subtypes of FTLD and DaTSPECT results impossible at the moment. Further studies correlating clinical, neuropsychological, neuroimaging, genetic, and pathology findings are needed to better understand parkinsonism in FTLD.
Acute Phrenic Neuropathy and Diaphragmatic Dysfunction as a Complication of COVID-19: A Report of Four Cases
Authors: Juan J Medina-Pérez, José A Balderas-Juárez, Andrés Vega-Rosas, Paola G Ballesteros-Penedo, Silvia G Coubert-Pelayo
Journal: Cureus (2023)
Keywords: covid-19, diaphragm, neuropathy, phrenic nerve, sars-cov-2
MeSH terms: Case Reports

Among the neurological manifestations associated with coronavirus disease 2019 (COVID-19), neuropathies are rare. They have been associated with prolonged prostration and metabolic failure in a seriously ill patient. We present a case series of four Mexican patients diagnosed with diaphragmatic dysfunction due to phrenic neuropathy during acute COVID-19, documented by conduction velocities of the phrenic nerves. Blood tests, chest computed tomography (CT), and nerve conduction velocities of the phrenic nerves were performed. COVID-19 patients with phrenic nerve neuropathy represent a therapeutic challenge since they have high oxygen requirements due to the malfunction of ventilatory mechanics secondary to neuromuscular damage, as well as the damage that pneumonia generates in lung tissue. We confirm and extend the neurological manifestations of COVID-19, the impact on the neuromuscular dysfunction of the diaphragm, and its consequences such as the difficulty of weaning from mechanical ventilation.
Intussusception Caused by Cecal Duplication in an Adult: A Case Report
Authors: Eric Bergeron, Normand Gervais
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Cecal duplication is a rare congenital malformation and majority of the cases are discovered in the first years of life. Ileocolic intussusception is also a rare situation encountered in adults. A 19-year-old female presented with acute abdominal pain and bowel occlusion in relation with an ileocecal intussusception. She underwent an emergent laparotomy and ileocecal resection. A cecal duplication cyst was found to be the cause of the intussusception. While duplications and intussusception are very rare situations encountered in the adult life, the presence of both at the same time remains frankly anecdotal. The present case demonstrates that intussusception may likely be involved with any cecal lesion, like duplication.
Diagnosis difficulties in a patient with progressive loss of vision - a case report
Authors: Teodor Razvan Cristescu
Journal: Rom J Ophthalmol (2017)
Keywords: autoimmune retinopathy, cancer-associated retinopathy, paraneoplastic retinopathy
MeSH terms: Pancreatic Neoplasms / pathology, Paraneoplastic Syndromes, Ocular / diagnosis, Vision Disorders / diagnosis, Case Reports, Autoantigens / immunology, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Pancreatic Neoplasms / diagnostic imaging, Paraneoplastic Syndromes, Ocular / physiopathology, Retina / immunology, Tomography, Optical Coherence, Vision Disorders / physiopathology, Visual Acuity / physiology, Visual Fields / physiology, Autoantigens

The paper presents the case of a 57-year-old male patient who complained of slow progressive loss of visual acuity. Anamnesis revealed he was a heavy drinker and he was previously diagnosed with a pancreatic cancer, observed on the MRI. The clinical examination revealed ocular features that made the diagnosis difficult. Initially, it seemed to be a case of narrow angle glaucoma but further ocular examinations revealed macular thinning.
Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
Authors: R Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, M J Trujillo-Tiebas, D Cantalapiedra, E Vallespin, J Aguirre-Lamban, C Ramos, C Ayuso
Journal: Mol Vis (2007)
MeSH terms: ATP-Binding Cassette Transporters / genetics, Chromosomes, Human, Pair 1, Fathers, Macular Degeneration / genetics, Mutation, Uniparental Disomy, Case Reports, Research Support, Non-U.S. Gov't, Adult, Alleles, Arginine, Cytogenetic Analysis, Female, Gene Dosage, Haplotypes, Heterozygote, Humans, Karyotyping, Leucine, Macular Degeneration / physiopathology, Male, Microsatellite Repeats, ABCA4 protein, human, ATP-Binding Cassette Transporters, Arginine, Leucine

Purpose:
Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13.
Methods:
To describe a form of non-mendelian inheritance in a patient with STGD identified through the course of a conventional mutational screening performed on 77 STGD families. DNA from the patient and relatives was analyzed for variants in all 50 exons of the ABCA4 gene by screening on the ABCR400 microarray; results were confirmed by direct sequencing. Haplotype analyses, standard and high-resolution (HR) karyotypes, and multiplex ligation-dependent probe amplification (MLPA) were also performed.
Results:
A patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. Haplotype analysis suggested that no maternal ABCA4 allele was transmitted to the patient. Microsatellite markers spanning the entire chromosome 1 identified a homozygous region of at least 4.4 Mb, involving the ABCA4 gene. The cytogenetic study revealed normal female karyotype. Further evaluation with MLPA showed the patient had a normal dosage for both copies of the ABCA4 gene, thus suggesting partial paternal isodisomy but not a maternal microdeletion.
Conclusions:
We report that recessive STGD can rarely be inherited from only one unaffected carrier parent in a non-mendelian manner. This study also demonstrates that genomic alterations contribute to only a small fraction of disease-associated alleles for ABCA4.
Monomorphic xanthomatous type of xanthogranuloma: a rare entity
Authors: Pratheeba Devi Nivean, M Nivean
Journal: GMS Ophthalmol Cases (2017)
Keywords: adult onset xanthogranuloma, chalazion, lid swellings
MeSH terms: Case Reports

Xanthogranuloma is an uncommon tumor in the ocular adnexa. It usually presents as diffuse lid swelling with or without orbital involvement. Xanthogranulomas can be associated with systemic comorbidities. They are diagnosed by their characteristic pathological finding. They are further subclassified based on immunohistochemistry. We present two cases with lid swelling which were diagnosed to be xanthogranuloma. Our cases were special because of the unique presentation as localized monomorphic lesions.
Primary breast angiosarcoma: a rare presentation of rare tumor - case report
Authors: Fayçal Abbad, Najat Cherif Idrissi, Btissam Fatih, Bouchra Fakhir, Jamal Drissi, Mouna Khouchani, Hanane Rais
Journal: BMC Clin Pathol (2017)
Keywords: breast, immunoprofile, primary angiosarcoma
MeSH terms: Case Reports

Background:
Primary breast angiosarcoma is defined as malignant proliferation showing endothelial differentiation. It is a very rare tumour (0.05% of primary mammary cancers), whose diagnosis can be difficult.
Case presentation:
We report the observation of a patient with no previous history, aged 27 years. The clinical examination finds a right breast discreetly increased in volume. The trucut biopsy was in favour of a lactating tubular adenoma. However, an immunohistochemical complement was requested. An absence of pancytokeratin labelling contrasted with strong expression of CD31, CD34 (endothelial markers) are described. The proliferation index (Ki67) was estimated at 30%. This led to the conclusion that the phenotypic aspect is related to a vascular proliferation that evokes an angiosarcoma. After a multidisciplinary assessment, the patient benefited from an enlarged excision of the tumour. The histopathological examination of the surgical specimen found an infiltrating mesenchymal proliferation made of vessels of variable sizes anastomosed to vascular slits with lesional limits. The immunohistochemical examination on the surgical specimen showed to the same phenotypic profile on biopsy. The final diagnosis was a high-grade mammary angiosarcoma of incomplete excision. The patient refused any additional surgical management; external radiotherapy and close supervision were prescribed. After eight months of evolution, no local or remote recurrence was reported.
Conclusion:
Primary breast angiosarcoma is a mesenchymal malignant tumour of rare vascular origin. Our observation is peculiar by the absence of any prior radiotherapy, its clinical presentation, its morpho-phenotypic characteristics, its management and its evolutive aspects.