OpenMed/multicare-articles huggingface dataset:
Catastrophic ocular complications in leprosy: a case report
Authors: Samyak Ashok Ganjre, Sandhya Jeria, Bhushan Madke
Journal: Pan Afr Med J (2023)
Keywords: disabilities, case report, deformities, ocular leprosy, staphyloma
MeSH terms: Leprosy / complications, Leprosy / diagnosis, Ophthalmology, Case Reports, Blindness / etiology, Humans, Male, Vision, Ocular, Visual Acuity

Leprosy is a chronic, granulomatous infectious disease commonly affecting the skin, nerves, mucosa and eyes. The stigma associated with the disease frequently leads to delay in presentation to health professionals. Treated patients, though considered cured presumptively, many continue to live with physical disabilities and deformities. Intact visual acuity prevents humans from trauma and any reduction in visual acuity, especially in leprosy, increases the risk of getting injured by many folds. Here, we present a case of leprosy with complete loss of vision due to bilateral anterior staphyloma secondary to keratitis and his physical deformities preventing him to take care of his eyes. This paper aims to emphasize on the importance of a baseline ophthalmology consultation in all newly diagnosed leprosy patients and repeat examination at onset of any new symptoms of the eye.
Recurrent gastric ulcer and cholangitis caused by ectopic drainage of the bile duct into the stomach
Authors: Katrin Bauer, Christof Keller
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2017)
Keywords: ectopic orifice of the bile duct
MeSH terms: Case Reports

We report a case of recurrent gastritis with pyloric stenosis and cholangitis due to a rare variation in bile duct anatomy. A 72-year-old female patient showed recurrent gastral ulcers and biliary colic with cholangitis caused by gallstones in the main bile duct with an ectopic orifice in the prepyloric region and concurrent inflammatory pyloric stenosis. After temporarily successful endoscopic treatment with stenting and pyloric dilatation, the patient suffered from recurrent cholangitis. Finally, the abnormal biliary anatomy required surgical treatment with biliodigestive anastomosis.
Hepatic Silicone Granulomas Secondary to Ruptured Breast Implants: A Report of Two Cases
Authors: Rachel Hudacko, Kapil Anand, Ronald Gordon, Tina John, Carolyn Catalano, Francisco Zaldana, Henry J Katz, Billie Fyfe, Vinod Rustgi
Journal: Case Reports Hepatol (2019)
MeSH terms: Case Reports

The differential diagnosis of hepatic granulomas is vast and includes infections, drugs, immunologic diseases, foreign material exposure, and neoplasia. Silicone, whether directly injected into tissues or used as a filler in breast implants, is known to cause localized granulomatous reactions. It can also migrate to other anatomic locations resulting in granulomatous inflammation at a distance. We report two cases of unsuspected hepatic silicone granulomas in patients undergoing liver biopsy for isolated elevated alkaline phosphatase levels, both with a history of ruptured breast implants. These cases highlight the need for awareness of hepatic silicone granulomas as an etiology of elevated liver enzymes in patients with a history of surgical interventions utilizing silica, such as cosmetic surgery.
Immunological Features of Neuroblastoma Amplified Sequence Deficiency: Report of the First Case Identified Through Newborn Screening for Primary Immunodeficiency and Review of the Literature
Authors: Silvia Ricci, Lorenzo Lodi, Daniele Serranti, Marco Moroni, Gilda Belli, Giorgia Mancano, Andrea La Barbera, Giulia Forzano, Giusi Mangone, Giuseppe Indolfi, Chiara Azzari
Journal: Front Immunol (2019)
Keywords: ilfs2, krec, nbas, soph, immunodeficiency, neuroblastoma amplified sequence deficiency, newborn screening
MeSH terms: Genetic Association Studies, Genetic Predisposition to Disease, Neoplasm Proteins / deficiency, Primary Immunodeficiency Diseases / diagnosis, Primary Immunodeficiency Diseases / etiology, Case Reports, Research Support, Non-U.S. Gov't, Review, Biomarkers, Exome Sequencing, Genetic Testing, Humans, Immunophenotyping, Infant, Newborn, Lymphocytes / immunology, Lymphocytes / metabolism, Neonatal Screening, Primary Immunodeficiency Diseases / metabolism, Biomarkers, NBAS protein, human, Neoplasm Proteins

This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis.
Laparoscopic surgery of a presacral epidermoid cyst: A case report
Authors: Koichi Mohri, Tadahiro Kamiya, Kazuhiro Hiramatsu, Yoshihisa Shibata, Motoi Yoshihara, Taro Aoba, Akira Ito, Takehito Kato
Journal: Int J Surg Case Rep (2019)
Keywords: case report, developmental cyst, epidermoid cyst, presacral tumor

Introduction:
The best approach for resecting epidermoid cysts is still controversial. We describe a case of an epidermoid cyst in which laparoscopic resection was performed successfully.
Presentation of case:
63 × 55-mm well-defined cystic mass was incidentally detected by computed tomography in the presacral cavity of a 50-year-old woman during evaluation for upper abdominal pain. Magnetic resonance imaging showed a cystic tumor with a low signal intensity on T1-weighted images and, high signal on T2-weighted images in the left dorsal side of the rectum. This tumor was diagnosed as a developmental cyst, and laparoscopic resection was performed. Resection of the tumor was performed with negative margins. This tumor was histopathologically diagnosed as an epidermoid cyst. There was no evidence of malignancy, and no postoperative event or signs of recurrence occurred 6 months postoperatively.
Discussion:
In our patient, there was no difficulty in the field of view and forceps operability during laparoscopic surgery. Furthermore, it is possible to perform laparoscopic surgery with minimal damage to the muscles, nerves, and rectum, leading to the preservation of anal function.
Conclusion:
Laparoscopic resection of an epidermoid cyst may be a better option in carefully selected cases with consideration of the tumor size and location.
Placental Inflammation and Fetal Injury in a Rare Zika Case Associated With Guillain-Barré Syndrome and Abortion
Authors: Kíssila Rabelo, Luiz J Souza, Natália G Salomão, Edson R A Oliveira, Lynna de Paula Sentinelli, Marcelle S Lacerda, Pedro B Saraquino, Fernando C Rosman, Rodrigo Basílio-de-Oliveira, Jorge J Carvalho, Marciano V Paes
Journal: Front Microbiol (2018)
Keywords: guillain-barré syndrome, zika virus, fetal infection, histopathology, immune response
MeSH terms: Case Reports

Zika virus (ZIKV) is an emerging virus involved in recent outbreaks in Brazil. The association between the virus and Guillain-Barré syndrome (GBS) or congenital disorders has raised a worldwide concern. In this work, we investigated a rare Zika case, which was associated with GBS and spontaneous retained abortion. Using specific anti-ZIKV staining, the virus was identified in placenta (mainly in Hofbauer cells) and in several fetal tissues, such as brain, lungs, kidneys, skin and liver. Histological analyses of the placenta and fetal organs revealed different types of tissue abnormalities, which included inflammation, hemorrhage, edema and necrosis in placenta, as well as tissue disorganization in the fetus. Increased cellularity (Hofbauer cells and TCD8+ lymphocytes), expression of local pro-inflammatory cytokines such as IFN-γ and TNF-α, and other markers, such as RANTES/CCL5 and VEGFR2, supported placental inflammation and dysfunction. The commitment of the maternal-fetal link in association with fetal damage gave rise to a discussion regarding the influence of the maternal immunity toward the fetal development. Findings presented in this work may help understanding the ZIKV immunopathogenesis under the rare contexts of spontaneous abortions in association with GBS.
Epileptic Electroencephalography Profile Associates with Attention Problems in Children with Fragile X Syndrome: Review and Case Series
Authors: Benjamin Cowley, Svetlana Kirjanen, Juhani Partanen, Maija L Castrén
Journal: Front Hum Neurosci (2016)
Keywords: attention deficit disorder, clinical case series, electroencephalography, endophenotype, fragile x syndrome, neurofeedback

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and a variant of autism spectrum disorder (ASD). The FXS population is quite heterogeneous with respect to comorbidities, which implies the need for a personalized medicine approach, relying on biomarkers or endophenotypes to guide treatment. There is evidence that quantitative electroencephalography (EEG) endophenotype-guided treatments can support increased clinical benefit by considering the patient's neurophysiological profile. We describe a case series of 11 children diagnosed with FXS, aged one to 14 years, mean 4.6 years. Case data are based on longitudinal clinically-observed reports by attending physicians for comorbid symptoms including awake and asleep EEG profiles. We tabulate the comorbid EEG symptoms in this case series, and relate them to the literature on EEG endophenotypes and associated treatment options. The two most common endophenotypes in the data were diffuse slow oscillations and epileptiform EEG, which have been associated with attention and epilepsy respectively. This observation agrees with reported prevalence of comorbid behavioral symptoms for FXS. In this sample of FXS children, attention problems were found in 37% (4 of 11), and epileptic seizures in 45% (5 of 11). Attention problems were found to associate with the epilepsy endophenotype. From the synthesis of this case series and literature review, we argue that the evidence-based personalized treatment approach, exemplified by neurofeedback, could benefit FXS children by focusing on observable, specific characteristics of comorbid disease symptoms.
Long-Term Follow-Up Results of a Patient Undergoing Acute Retinal Necrosis: A Case Report and Literature Review
Authors: Büşra Köse, Hidayet Erdöl, Dilek Uzlu
Journal: Case Rep Ophthalmol Med (2021)
MeSH terms: Case Reports

Purpose:
To describe the follow-up and treatment approach of a patient with acute retinal necrosis. Case Report. A 44-year-old male patient, who had complaints of pain in the right eye and blurred vision, was referred to our clinic. Best-corrected visual acuity (BCVA) was 0.4. There was 2+ anterior chamber reaction and diffuse smooth-rounded keratic precipitates. Fundus examination revealed optic nerve and vascular involvement. Fundus fluorescein angiography revealed extensive ischemia in the periphery. Oral antiviral therapy was preferred. In addition, systemic steroid and laser photocoagulation were applied. Nonetheless, retinal detachment developed 2 months later. Detachment, silicon removal, and cataract surgery were performed sequentially. It was observed that the patient was followed for 4.5 years and did not have contralateral eye involvement. Best-corrected visual acuity remained stable at 0.3.
Conclusion:
Early diagnosis, appropriate treatment, accurate complication management, and frequent follow-up may provide useful vision in patients with acute retinal necrosis.
Using Intra-Aortic Balloon Pump for Management of Cardiogenic Shock Following Aluminum Phosphide Poisoning; Report of 3 Cases
Authors: Ahmad Bagheri-Moghaddam, Hasan Abbaspour, Shahrad Tajoddini, Vahideh Mohammadzadeh, Ali Moinipour, Bita Dadpour
Journal: Emerg (Tehran) (2018)
Keywords: poisoning, shock, cardiogenic, intra-aortic balloon pumping, patient outcome assessment
MeSH terms: Case Reports

Introduction:
Aluminium phosphide (Alp) poisoning mortality rate has been reported as high as 70-100%, and refractory hypotension and cardiogenic shock are the two most common presentations leading to death. Due to lack of specific antidote, all treatments are focused on supportive care and recently, intra-aortic balloon pump (IABP) has been suggested to treat cardiogenic shock resulting from toxic myocarditis. In the current paper, we introduce three Alp poisoned patients for whom IABP was applied to manage their refractory shock.
Case presentation:
Two men and one woman who were admitted to emergency department (ED) of Imam Reza academic Hospital, Mashhad, Iran due to intentional Alp poisoning are reported. The cases visited the ED shortly after ingestion and nearly all of them showed hypotension, tachycardia and metabolic acidosis during early hospitalization. Due to persistent shock state, despite receiving intravenous fluid therapy and vasopressor agents, IABP insertion was performed in these cases. Finally, one of them survived and the other two died.
Conclusion:
It still cannot be decided whether IABP insertion is effective in cases of Alp poisoning or not. It might be reasonable to try this intervention along with other conservative treatments in patients who survive more than 12 hours and consistently suffer from refractory hypotension.
Unusual clinical manifestation of seborrheic keratosis on the scalp successfully treated with topical trichloroacetic acid: an atypical case report
Authors: Dewi Nur Komalasari, Khairuddin Djawad, Airin Riskianty Nurdin, Idrianti Idrus Paturusi
Journal: Pan Afr Med J (2020)
Keywords: dermoscopy, histopathology, scalp seborrheic keratosis, trichloroacetic acid
MeSH terms: Dermatologic Agents / administration & dosage, Keratosis, Seborrheic / diagnosis, Scalp / pathology, Trichloroacetic Acid / administration & dosage, Case Reports, Administration, Cutaneous, Adult, Dermoscopy, Humans, Keratosis, Seborrheic / drug therapy, Male, Treatment Outcome, Dermatologic Agents, Trichloroacetic Acid

Seborrheic keratoses (SKs) are benign tumor of the skin. They can occur anywhere, except the palms and soles. SKs commonly present as multiple, pigmented papules which is classically described as verrucous stuck-on papules or plaques. A case with multiple nodular appearance is a rare case and to our knowledge has never been reported. Here we report a rare case of multiple SKs on the scalp. On clinical evaluation, multiple, erythematous hyperkeratotic nodules were present. Dermoscopic and histopathological examination supported SKs. The patient was successfully treated with topical application of 80% TCA solution.
Case reports on a gastric mass presenting with regional lymphadenopathy: A differential diagnosis is gastric schwannoma
Authors: Arnav Wadhawan, Maureen Brady, Charles LeVea, Steven Hochwald, Moshim Kukar
Journal: Int J Surg Case Rep (2020)
Keywords: gastric mass with regional lymphadenopathy, gastrointestinal schwannoma, gastrointestinal stromal tumor, neurilemmoma, neurinoma, schwannoma
MeSH terms: Case Reports

Background:
Gastric schwannomas are uncommon among a broad range of possible diagnoses in the work up of a gastric mass. Regional lymphadenopathy associated with gastric schwannoma is an even less common occurrence and one would otherwise suspect a malignant neoplasm.
Case presentation:
We present two non-consecutive cases from a signle academic center depicting Caucasian females in their 5th and 6th decades of life with gastric schwannoma and adjacent lymphadenopathy. Multiple lymph node excisions were performed without evidence of neoplasia.
Discussion:
Lymphadanopathy in the presence of a gastric mass typically represents malignant neoplasm. A less than likely presentation of gastric schwannoma with reactive regional lymph nodes poses a challenge to adequate preoperative diagnosis and increases risk for a more aggressive than necessary surgical approach with lymphadenectomy.
Conclusion:
While the correlation between gastric schwannoma and lymphadenopathy is uncertain, this ought to be considered. If diagnosis can be confirmed preoperatively, omission of lymphadenectomy is appropriate.
Partial Spinous Process Decompression in Baastrup's Disease: A Case Report and Literature Review
Authors: Felix Corr, Dustin Grimm, Ralf D Rothoerl
Journal: Cureus (2023)
Keywords: baastrup’s disease, computed tomography, kissing spine disease, low back pain, spinal diseases
MeSH terms: Case Reports

Baastrup's disease represents a frequent, primarily radiological phenomenon on imaging studies of the spine. Nevertheless, it can present as a rare, symptomatically relevant pathology that implies a therapeutic consequence. Yet, there is little evidence and agreement on a consistent treatment strategy in the current literature. Here, we present the case of a 46-year-old man who presented with chronic, persistent midline back pain that was relieved by flexion and aggravated by spinal extension. Extensive imaging studies, including computed tomography, magnetic resonance imaging, and single-photon emission computed tomography confirmed the close approximation of the spinous processes at the levels L4-L5 and L5-S1. Clinically symptomatic isolated Baastrup's disease was confirmed by a local anesthetic infiltration test. As conservative treatment options failed, partial resection of the spinous processes was performed. Conservative treatment, including analgesics and physical therapy, represents the initial treatment approach for Baastrup's disease. When clinical features of Baastrup's disease are present, differential diagnoses have been excluded, and conventional therapy has been exhausted surgical decompression with low surgical risk and good prognosis may be indicated after careful consideration of the indications.
Cerebral salt wasting syndrome due to tuberculous meningitis; a case report
Authors: Syed Ahmad, Zain Majid, Mehwish Mehdi, Muhammed Mubarak
Journal: J Renal Inj Prev (2016)
Keywords: cerebral salt wasting syndrome, hyponatremia, siadh, tuberculosis meningitis
MeSH terms: Case Reports

A 58-year-old male presented with fever, nausea, and vomiting since 15 days along with irritability and confusion since 5 days. His laboratory reports showed low serum sodium, serum osmolality and uric acid. Computerized tomography (CT) scan of brain revealed age-related changes. While on lumbar puncture (LP) and cerebrospinal fluid (CSF) examination, CSF protein, lactate dehydrogenase (LDH) and total leukocyte count (predominant lymphocytes) were all increased. On his 14th day of admission, his serum sodium was 116 mEq/l and he had a high urine output. Fluid restriction was tried in order to rule out syndrome of inappropriate antidiuretic hormone secretion (SIADH) but the patient did not respond to it. Keeping in view the above findings, a final diagnosis of tuberculous meningitis leading to cerebral salt wasting syndrome was made. The patient was started on 3% hypertonic saline, mineralocorticoids and anti-tuberculous therapy (ATT), to which he responded favorably and was later discharged.
Ulnar nerve palsy after open carpal tunnel decompression: Case report and review of the literature
Authors: P Yoong, A Fattah, A S Flemming
Journal: Indian J Plast Surg (2008)
Keywords: carpal tunnel, complications, nerve injury, ulnar nerve
MeSH terms: Case Reports

Open carpal tunnel release is the commonest surgical treatment of median nerve compression at the wrist. Although successful in most cases, there are well described complications. We report a case of laceration of the deep motor branch of the ulnar nerve at the level of the hook of hamate following a complicated carpal tunnel decompression. Good surgical technique and knowledge of wrist anatomy are essential for performing this apparently simple procedure safely.
Long-term survival and transmission of INI1-mutation via nonpenetrant males in a family with rhabdoid tumour predisposition syndrome
Authors: A C J Ammerlaan, A Ararou, M P W A Houben, F Baas, C C Tijssen, J L J M Teepen, P Wesseling, T J M Hulsebos
Journal: Br J Cancer (2008)
MeSH terms: Chromosomal Proteins, Non-Histone / genetics, DNA-Binding Proteins / genetics, Family, Genetic Predisposition to Disease, Germ-Line Mutation, Inheritance Patterns, Penetrance, Rhabdoid Tumor / genetics, Transcription Factors / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Adult, Base Sequence, Child, Preschool, Chromosomes, Human, Pair 22, DNA Mutational Analysis, Female, Humans, Infant, Male, Microsatellite Repeats / genetics, Pedigree, Rhabdoid Tumor / mortality, SMARCB1 Protein, Sex Characteristics, Survival Analysis, Syndrome, Time Factors, Chromosomal Proteins, Non-Histone, DNA-Binding Proteins, SMARCB1 Protein, SMARCB1 protein, human, Transcription Factors

Rhabdoid tumour predisposition syndrome (RTPS) is a rare syndrome caused by inheritance of a mutated INI1 gene for which only two multigeneration families have been reported. To further characterise the genotype and phenotype of RTPS, we present a third family in which at least three cousins developed an atypical teratoid/rhabdoid tumour (AT/RT) at a young age. Two of these patients showed unusual long survival, and one of these developed an intracranial meningioma and a myoepithelioma of the lip in adulthood. Mutation analysis of INI1 revealed a germline G>A mutation in the donor splice site of exon 4 (c.500+1G>A) in the patients and in their unaffected fathers. This mutation prevents normal splicing and concomitantly generates a stop codon, resulting in nonsense-mediated mRNA decay. Biallelic inactivation of INI1 in the tumours, except for the meningioma, was confirmed by absence of nuclear INI1-protein staining. The myoepithelioma of one of the patients carried an identical somatic rearrangement in the NF2 gene as the AT/RT, indicating that both tumours originated from a common precursor cell. In conclusion, this study demonstrates for the first time transmission of a germline INI1-mutation in a RTPS family via nonpenetrant males, long-term survival of two members of this family with an AT/RT, and involvement of INI1 in the pathogenesis of myoepithelioma.
Facilitation of Vaginal Delivery in an Infant with Complete Heart Block Secondary to Maternal Anti-Ro Antibodies
Authors: E Thornton, L Tripathi, S Shebani, I Bruce, L Byrd
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Congenital heart block (CHB) is a rare disorder that may be associated with a high morbidity and even mortality, with a risk of death both in utero and during infancy. Women with serum titres of anti-Ro and/or anti-La antibodies carry a risk of CHB of 1-5% in their offspring, with a recurrence risk of approximately 20%. We present a case of a 36-year-old female with a pregnancy complicated by congenital heart block. Autoimmune profiling at booking showed she was positive for lupus anticoagulant and anti-Ro antibodies. A fetal echocardiogram at 21 + 3 showed complete heart block. She was monitored throughout the remainder of her pregnancy with serial growth scans, cardiovascular profiling, and BPP scoring. She had a normal vaginal delivery at term to a female infant.