OpenMed/multicare-articles huggingface dataset:
Retrolental fibroplasias: What lies beneath?
Authors: Parveen Sen, Dhaivat Shah
Journal: GMS Ophthalmol Cases (2020)
Keywords: masquerades, myelinated nerve fibers, retrolental fibroplasias
MeSH terms: Case Reports

A nine-month-old female baby with normal birth history presented with her mother complaining of a white spot in the baby's right eye, which the mother had noticed at five months of age. External photograph showed a retrolental fibroplastic membrane visible in the superior half of the dilated pupil. Retcam fundus photo revealed myelinated nerve fibers extending from the disc till the ora superiorly and forming a membranous fold. Intraoperative OCT confirmed thickened RNFL with compact retina. Thus, the retrolental fibroplasia turned out to be a masquerade for myelinated nerve fibers. Since it was not involving the visual axis with no coexisting traction, the mother was reassured regarding the benign nature of the condition.
An Undiagnosed Case of Hypothalamic Hamartoma with a Rare Presentation
Authors: Shervin Badihian, Saeideh Bahrani, Nasim Tabrizi, Houshang Moein, Mohammad Zare, Majid Barekatain, Reza Basiratnia, Elham Rahimian, Amirali Mehvari Habibabadi, Payam Moein, Jafar Mehvari Habibabadi
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.
Chest wall schwannoma presenting as a solitary malignant lesion: a case report
Authors: M Galukande, A Khingi
Journal: Springerplus (2016)
Keywords: chest wall, lesion, schwannoma

Background:
Chest wall schwannomas are rare tumors arising from the intercostals nerves. Schwannomas are lobulated, encapsulated spherical masses, different from neurofibromas in that matter. Men and women are equally affected in their third and fourth decades.
Case presentation:
A 42 year old female presented with a 6 month history of progressively worsening pain over the right shoulder and chest wall, aggravated by movement and with associated right arm oedema and paraesthesia. She believed mild symptoms began 2 years prior to presentation. The histopathological examination revealed a benign lesion; a schwannoma with degenerative changes. The section revealed a benign nerve sheath tumor characterized by a proliferation of band spindle cells arranged in fascicles and variable cellularity and associated with dilated and think walled blood vessels.
Conclusion:
Chest wall schwannomas are rare; they mimic chest wall malignant lesions.
A RECURRENT MUTATION IN TSHB GENE UNDERLYING CENTRAL CONGENITAL HYPOTHYROIDISM UNDETECTABLE IN NEONATAL SCREENING
Authors: Maria de Fátima Borges, Horacio Mario Domené, Paula Alejandra Scaglia, Beatriz Hallal Jorge Lara, Heloísa Marcelina da Cunha Palhares, Andréia Vasconcelos Aguiar Santos, Amanda Lacerda Ferreira Gonçalves, Marília Matos Oliveira, Alessandra Bernadete Trovó de Marqui
Journal: Rev Paul Pediatr (2019)
MeSH terms: Congenital Hypothyroidism / diagnosis, Delayed Diagnosis, Mutation, Neonatal Screening, Thyrotropin, beta Subunit / genetics, Case Reports, Adult, Child, Congenital Hypothyroidism / genetics, Female, Genetic Markers, Humans, Infant, Infant, Newborn, Male, Genetic Markers, Thyrotropin, beta Subunit

Objective:
To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family.
Case description:
It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele.
Comments:
The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.
A Case of Acute Esophageal Necrosis from Unruptured Thoracic Aortic Aneurysm
Authors: Abhishek Polavarapu, Dhineshreddy Gurala, Bindu Mudduluru, Pretty Sara Idiculla, Jobin Philipose, Magda Daoud, Naureen Narula, Vivek Gumaste
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Acute esophageal necrosis (AEN), also known as black esophagus due to its appearance on endoscopy, classically involves the distal esophagus (97% of cases). AEN affecting the midesophagus with sparing of the distal esophagus is rare and usually occurs in patients with thoracic aortic aneurysmal (TAA) rupture or aortic dissection. Herein, we report a unique case of AEN in the midesophagus in a patient with an unruptured and undissected TAA.
Mclndoe Neovagina in patients with Mullerian Agenesis: A single center experience
Authors: Abdulrahim Gari
Journal: Pak J Med Sci (2017)
Keywords: mayer-rokitansky-kuster-hauser (mrkh) syndrome, mullerian aplasia, split thickness skin graft, vaginal agenesis, vaginal reconstruction
MeSH terms: Case Reports

Objectives:
To evaluate the surgical feasibility and the long-term anatomical and functional results and complication rates in patients with Mullerian aplasia who underwent vaginal reconstruction.
Methods:
A retrospective observational case series study over 8 years was conducted in King Faisal Specialist Hospital & Research Centre - Jeddah, Saudi Arabia. All cases diagnosed as Mullerian aplasia and who underwent surgical correction were included. Painless and satisfactory vaginal intercourse after surgery were the main outcome measured.
Results:
A total of 19 patients were diagnosed with Mullerian agenesis and underwent vaginal reconstruction by Mclndoe technique with minor modification. All of our patients who were sexually active and were compliant with mold use postoperatively were able to achieve 100% painless and satisfactory sexual intercourse.
Conclusions:
Minor modification in McIndoe technique provides easier, safer and deeper dissection that minimizes the complications and helps in maximizing the vaginal length. It provides satisfactory and functional vagina in the majority of the patients.
Successful pregnancy after treatment with ulipristal acetate for uterine fibroids
Authors: Javier Monleón, Alicia Martínez-Varea, Daniela Galliano, Antonio Pellicer
Journal: Case Rep Obstet Gynecol (2014)

This case report presents a clinical pregnancy after ulipristal acetate (UA) to decrease uterine fibroid size. A 37-year-old patient, gravida 1, abortus 1, with uterine fibroids was treated with 5 mg of UA daily for 13 weeks starting eight months after a multiple laparotomic myomectomy. Fibroid shrinkage and restoration of the morphology of endometrial cavity were evaluated in order to allow a subsequent pregnancy. A decrease of the uterine fibroids and a normal morphology of the endometrial cavity were noted by transvaginal ultrasound after treatment. An endometrial biopsy excluded histologic endometrial changes. Three months after the end of UA the patient reported amenorrhea for 5 weeks and a clinical pregnancy was confirmed with transvaginal ultrasound. She underwent a subsequent uneventful pregnancy. Thus, the spontaneous pregnancy after UA to reduce fibroid size may support the potential clinical utility of this selective progesterone receptor modulator in the management of women with pregnancy desire and uterine fibroids after a prior myomectomy. Patients who refuse a new surgical procedure and/or those who are going to undergo assisted reproductive techniques would benefit from UA. It effectively shrinks fibroids, avoids risks of a new surgical procedure, and allows an immediate attempt at conception after the end of treatment.
Development of Very-Early-Onset Inflammatory Bowel Disease After Multiple Early-Life Antibiotic Exposures: A Case Report and Literature Review
Authors: Ángel A Miró-González, Sergio M Maldonado-Chaar, Raul Zambrana-Valenzuela, Ivonne M Iglesias-Escabi, Norma J Arciniegas-Medina
Journal: Cureus (2023)
Keywords: fecal microbiota transplantation (fmt), gut dysbiosis and diseases, inflammatory bowel disease, pediatric gastroenterology, very early onset inflammatory bowel disease
MeSH terms: Case Reports

The use of antibiotics has increased drastically over the last few decades. Many antibiotics can target the commensal microbiota and promote gut dysbiosis. These alterations contribute to disease onset and exacerbation. Although the etiology of inflammatory bowel disease (IBD) is mostly unknown, it involves a complex interaction among host genetics, microbiota, environmental factors, and aberrant immune responses. Studies have shown a relationship between very-early-onset inflammatory bowel disease (VEO-IBD) and microbiota alterations. The case discussed in this report endorses the current clinical evidence for this interaction. This is an anonymous record review with no identifiers involving a 23-month-old female patient who was brought to the emergency department by her parents due to persistent bloody diarrhea. Eight days before the presentation, she had experienced watery diarrhea that progressed to bloody stools. The patient had a history of acute otitis media, acute enteritis, and right-arm cutaneous abscess, for which she had received multiple antibiotic therapies. Strategies to manipulate the microbiome through diet, probiotics, antibiotics, or fecal microbiota transplantation (FMT) may be used therapeutically to modulate disease activity. A high index of clinical suspicion for VEO-IBD should be maintained for patients with a history of multiple, recurrent antibiotic use. We believe this case report will raise awareness about the issue of early anaerobic antibiotic exposure and help prevent its unnecessary use and, consequently, prevent gut microbiota dysbiosis that can lead to VEO-IBD. Also, our literature review will hopefully prompt clinicians to consider alternative therapeutic options for this patient population, such as rebuilding intestinal microbiota composition to improve VEO-IBD activity.
An Orthodontic Approach for the Correction of Transposition along with Multiple Impacted Teeth
Authors: Sanjay Prasad Gupta, Jamal Giri, Basanta Kumar Shrestha
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Impaction of teeth affects patients' esthetics, speech, and masticatory efficiency. In addition, the transposition of teeth makes a case difficult to manage. This case report describes a case of a 14-year-old boy with the impaction of the maxillary right central incisor and canine along with the transposition of the right canine and lateral incisor. The impacted teeth were surgically exposed and guided into the arch using orthodontic traction. Likewise, the transposition was corrected orthodontically by moving the teeth to their desired position without any detrimental effect on the adjacent teeth. The patient's esthetics and occlusion improved substantially after the orthodontic intervention.
Syncope and Influenza B: A Case of an Arresting Association
Authors: Alan Lucerna, James Lee, James Espinosa
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Influenza is a contagious viral illness that usually presents with upper respiratory and pulmonary symptoms. While generally self-limited, pulmonary, renal, metabolic, neurologic, and cardiac complications have all been described in the literature. Here we describe a case of a 46-year-old male with multiple episodes of syncope, found to have severe bradycardia, sinus arrest, and positive influenza B, requiring permanent pacemaker placement. The viruses responsible for the flu can be differentiated into four types: A, B, C, and D. The two primary viruses responsible for the seasonal winter epidemic influenza in the United States are Human Influenza A and B viruses. It has been postulated that the influenza virus may be responsible for activating acute inflammatory cytokines, which then alter electrical conduction properties of endothelial cells. Although there have been cases of sinus arrest in association with influenza, some requiring pacemaker placement, our patient's presentation with multiple episodes of syncope with severe bradycardia and sinus arrest requiring permanent pacemaker placement, in association with influenza B, is very unusual and possibly unique. Since emergency physicians are at the forefront in the diagnosis, treatment, and disposition of these patients, awareness of influenza triggered cardiac events is essential and lifesaving, especially in unvaccinated patients.
A Case of Chemotherapy-Refractory "THRLBCL like Transformation of NLPHL" Successfully Treated with Lenalidomide
Authors: Mamatha Siricilla, Lydia Irwin, Andres Ferber
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) is a subtype of nonclassical Hodgkin lymphoma (HL). It resembles non-Hodgkin lymphoma (NHL), by expressing classic B cell markers such as CD20 and CD79a however lacks definitive HL markers (such as CD15 and CD30). T cell histiocyte-rich large B cell lymphoma (THRLBCL), on the other hand, is a distinct entity classified under NHL and considered a variant of diffuse large B cell lymphoma (DLBCL). NLPHL can look morphologically and immunologically similar to THRLBCL and often poses a diagnostic challenge. Neoplastic cells in both NLPHL and THRLBCL express B cell markers and are typically scattered in a background of reactive cells. The two major differences are the background cell type and the morphologic pattern. Despite having a phenotypic resemblance, they have distinct biologic behavior and clinical course. NLPHL typically has an indolent course, and THRLBCL has an aggressive course. Hence, differentiating these two entities is critical not only for prognosis but for treatment purposes. Of note, NLPHL has a small risk of transformation to an aggressive lymphoma such as THRLBCL.
Concomitant Intravitreal Ganciclovir and Dexamethasone Therapy in the Management of Acute Retinal Necrosis in a Patient Previously Treated with Oral Famciclovir
Authors: Chirag V Patel, Kamal Kishore
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

Several treatments have been reported for acute retinal necrosis (ARN). We report a case of treatment with intravitreal injection of ganciclovir and dexamethasone in addition to oral valacyclovir in a patient who was previously treated with oral famciclovir for ipsilateral herpes zoster ophthalmicus (HZO).
Case report: A novel approach of closed-loop brain stimulation combined with robot gait training in post-stroke gait disturbance
Authors: Atsushi Shima, Tomoaki Miyake, Kazuki Tanaka, Akari Ogawa, Erika Omae, Yui Nagamori, Yusuke Miyata, Koji Ohata, Takakuni Maki, Yumie Ono, Tatsuya Mima, Ryosuke Takahashi, Satoko Koganemaru
Journal: Front Hum Neurosci (2023)
Keywords: closed-loop stimulation, gait, non-invasive brain stimulation, rehabilitation, robot
MeSH terms: Case Reports

Most post-stroke patients have long-lasting gait disturbances that reduce their daily activities. They often show impaired hip and knee joint flexion and ankle dorsiflexion of the lower limbs during the swing phase of gait, which is controlled by the corticospinal tract from the primary motor cortex (M1). Recently, we reported that gait-synchronized closed-loop brain stimulation targeting swing phase-related activity in the affected M1 can improve gait function in post-stroke patients. Subsequently, a gait-training robot (Orthobot®) was developed that could assist lower-limb joint movements during the swing phase of gait. Therefore, we investigated whether gait-synchronized closed-loop brain stimulation combined with robot-assisted training targeting the swing phase could enhance the recovery of post-stroke gait disturbance. A 57-year-old female patient with chronic post-stroke hemiparesis underwent closed-loop brain stimulation combined with robot-assisted training for 10 min 2 years after left pons infarction. For closed-loop brain stimulation, we used transcranial oscillatory electrical current stimulation over the lesioned M1 foot area with 1.5 mA of DC offset and 0-3 mA of sine-wave formed currents triggered by the paretic heel contact to set the maximum current just before the swing phase (intervention A; two times repeated, A1 and A2). According to the N-of-1 study design, we also performed sham stimulation (intervention B) and control stimulation not targeting the swing phase (intervention C) combined with robot-assisted training in the order of A1-B-A2-C interventions. As a result, we found larger improvements in gait speed, the Timed Up and Go test result, and muscle strength after the A1 and A2 interventions than after the B and C interventions. After confirming the short-term effects, we performed an additional long-term intervention twice a week for 5 weeks, for a total of 10 sessions. Gait parameters also largely improved after long-term intervention. Gait-synchronized closed-loop brain stimulation combined with robot-assisted training targeting the swing phase of gait may promote the recovery of gait function in post-stroke patients. Further studies with a larger number of patients are necessary.
Meckel's Diverticulitis as a Cause of an Acute Abdomen in the Second Trimester of Pregnancy: Laparoscopic Management
Authors: Ivilina Pandeva, Sumit Kumar, Atif Alvi, Hema Nosib
Journal: Case Rep Obstet Gynecol (2015)

Introduction. Meckel's diverticulitis is an extremely rare cause of an acute abdomen in pregnancy. Its clinical presentation tends to be rather unusual and therefore commonly delaying diagnosis. The surgical method of exploration can be either by laparoscopy or through an open incision. Case Report. We report a case of a 34-year-old, P1 with previous Caesarean section, who presented at 20 weeks with worsening right-sided abdominal pain, distention, and peritonism. Ultrasound scan showed an area of a possibly thickened loop of bowel inconsistent with an appendicitis. The findings at laparoscopy were purulent fluid in the pelvis, a congested appendix, and inflamed Meckel's diverticulum. An appendectomy and excision of the diverticulum was performed using stapler technique. Discussion. Meckel's diverticulitis in pregnancy can have nonspecific presentation and poses difficulties for preoperative diagnosis. Delay in diagnosis and management poses significant maternal and fetal risks. The use of laparoscopy if the gestational age and uterine size permit its use allows a thorough exploration of the abdominal cavity and management of rarer and unexpected pathology. Laparoscopic management of acute abdomen in the midtrimester of pregnancy has been found to be safe and effective.
Simultaneous resection of abdominal aortic aneurysm and left renal cell carcinoma: A rare case and review of the literature
Authors: Mohammad Mozafar, Sina Zarrintan, R Shane Tubbs
Journal: J Cardiovasc Thorac Res (2020)
Keywords: abdominal aortic aneurysm, nephrectomy, renal cell carcinoma
MeSH terms: Case Reports

We report a rare case of concomitant abdominal aortic aneurysm (AAA) and left renal cell carcinoma (RCC). The patient was an 81-year old man who presented with vague abdominal pain. The investigations revealed a 110*73*62 mm AAA together with 69*56 left renal mass. Open repair of AAA with left radical nephrectomy was conducted. A simultaneous procedure is safe and does not increase morbidity and mortality in selected cases.
Hemorrhagic Spinal Schwannoma in Thoracolumbar Area with Total Paraplegia
Authors: Ahmad Jabir Rahyussalim, Rizky Priambodo Wisnubaroto, Tri Kurniawati, Alfariq Senja Belantara Latsarizul, Nuryati Chairani
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Hemorrhagic schwannoma in the medulla spinalis is a rare occurrence. It is a variant of the slow-growing nerve sheath tumor that usually has subtle clinical symptoms. Injury to the spinal schwannoma that was previously suspected by spinal manipulations may accelerate the progression of symptoms and cause an acute presentation of paraplegia. We report a case of a patient that was suspected of an intradural tumor with paraparesis that initially refused treatment. Spinal manipulation procedures were performed outside of the hospital setting with subsequent advancement of paraparesis. A surgical intervention was performed, which found that the tumor mass has grown along with hemorrhage within the schwannoma. The bleeding within the mass may have caused the acute paraplegia that is rarely reported. The patient had a fair improvement on her lower motor extremity function from 1-2 to 3-4 out of 5 at six-month follow-up.
Recurrence of progressive multifocal leukoencephalopathy despite immune recovery in two HIV seropositive individuals
Authors: Kate M Crossley, Shruti Agnihotri, Joga Chaganti, Michael L Rodriguez, Leon Patrick McNally, Nagagopal Venna, Sarah E Turbett, Matthew Gutman, Adrienne Morey, Igor J Koralnik, Bruce J Brew
Journal: J Neurovirol (2016)
Keywords: neuroimmunology, neurovirology, progressive multifocal leukoencephalopathy
MeSH terms: Anti-HIV Agents / therapeutic use, HIV Infections / virology, Leukoencephalopathy, Progressive Multifocal / virology, Natalizumab / therapeutic use, Case Reports, Antiretroviral Therapy, Highly Active, CD4 Lymphocyte Count, CD4-Positive T-Lymphocytes / immunology, CD4-Positive T-Lymphocytes / virology, Coinfection, Female, HIV Infections / diagnosis, HIV Infections / drug therapy, HIV Infections / immunology, HIV-1 / immunology, HIV-1 / pathogenicity, Humans, JC Virus / immunology, JC Virus / pathogenicity, Leukoencephalopathy, Progressive Multifocal / diagnosis, Leukoencephalopathy, Progressive Multifocal / drug therapy, Leukoencephalopathy, Progressive Multifocal / immunology, Male, Middle Aged, Recurrence, Anti-HIV Agents, Natalizumab

We present two cases of recurrent progressive multifocal leukoencephalopathy (PML) in patients with long standing virally suppressed human immunodeficiency virus (HIV) and normal CD4+ T cell count who were taking stable regimens of highly active antiretroviral therapy (HAART). This has significant implications for other patients with a past history of PML, not just those with HIV but also those on medications such as natalizumab or fumarates.