OpenMed/multicare-articles huggingface dataset:
Case Report: White Colored Stool: An Early Sign of Cystic Fibrosis in Infants
Authors: Jing Guo, Rong He, Zhi-Qin Mao
Journal: Front Pediatr (2021)
Keywords: cftr, cystic fibrosis, edema, hypoproteinemia, white stool
MeSH terms: Case Reports

A 2-month-old male infant presented with white colored stools 1 month after birth. There was no jaundice of the skin, mucous membrane, or sclera; his liver was enlarged (4 cm below the ribs), and his liver function tests showed slightly elevated total bilirubin (TB), direct bilirubin (DB), and total bile acid (TBA). An abdominal doppler ultrasound showed no signs of biliary atresia. Genetic testing revealed a CFTR hemizygous mutation site (c.223C>T) in exon 3 and exon 2-3 heterozygous deletion mutation. The infant's stool turned yellow after oral administration of pancreatic tablets. Finally, the infant was diagnosed with cystic fibrosis (CF). Review of literature revealed five children (including the infant in this case study) with CF who presented with white stool. All five children had anemia, four had edema and hypoproteinemia, five had changes in stool color (it was pistachio-green color in two patients, pale colored in one, acholic stool in one, and white stool in one), two had cholestasis, one infant had delayed meconium discharge, and three children had delayed growth and hepatomegaly. Two children had an abnormal sweat test, one had a F508del compound heterozygous mutation, and one had three mutation sites (C.214G>G/A, P.A72T; C.650A>A/G, P.E217G, and C.3406G>G/A, P. A1136T), which was a compound heterozygous mutation. So, CF could be included in the differential diagnosis of infants with white stool. Genetic testing could confirm an early diagnosis of CF. Pancreatic replacement therapy has been shown to be beneficial for improving the digestive function.
Interoceptive Axes Dissociation in Anorexia Nervosa: A Single Case Study With Follow Up Post-recovery Assessment
Authors: Daniele Di Lernia, Silvia Serino, Nicoletta Polli, Chiara Cacciatore, Luca Persani, Giuseppe Riva
Journal: Front Psychol (2019)
Keywords: anorexia nervosa, body perception, interoception, interoceptive deficit, multisensory integration

Anorexia nervosa (AN) is a disorder characterized by alterations in body perception. Recent literature suggested that AN can also impair the processing of stimuli from inside the body (i.e., interoceptive) however, very few studies performed a complete interoceptive assessment exploring the evolution of the interoceptive dimensions before and after the subject's recovery. To address this gap in knowledge, this study presented the case of Diana, a 25 years old woman affected by AN. At hospital admission, Diana performed a complete interoceptive assessment for accuracy (IAc), metacognitive awareness (IAw), sensibility (IAs), and interoceptive buffer saturation (IBs) - a new index that behaviourally evaluated the amount of interoceptive processing. Measures were repeated at the end of an outpatients rehabilitative hospital program, after Diana's recovery. Results were confronted with a control (N = 4) of healthy female subjects. Analyses indicated severe deficits in accuracy, buffer saturation, and sensibility compared to control group. Conversely, metacognitive awareness was pathologically enhanced. After the rehabilitative hospital program, Diana's clinical condition was largely improved and this reflected back on the interoceptive patterns that appeared restored, with no difference in interoceptive accuracy and metacognition compared to the control group. In conclusion, results indicated a very specific dissociation between interoceptive axes in AN with pervasive deficits in perception and processing that were accompanied by a pathologically enhanced confidence in the wrong perceptions. This case study reported an interesting and unique clinical pattern with a severe dissociation between interoceptive perceptions that nonetheless appeared restored after the subject's recovery, highlighting the role of interoceptive assessment in the clinical evolution of AN.
Giant Preputial Calculus: The First Reported Case in Malaysia
Authors: Tze Huat Chong, Mohd Zuki Asyraf, Firdaus Hayati, Nornazirah Azizan, Nik Amin Sahid, Jesse Ron Swire Ting, Andee Dzulkarnaen Zakaria
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Preputial calculus is a relative surgical rarity. It usually happens in elderly men with poor hygiene and uncircumcised penis complicated with phimosis. In the paediatric group, it is usually secondary to phimosis and other urologic and/or neurologic anomalies. Surgical treatment is the mainstay of treatment. Herein, we report a 27-year-old gentleman with preputial stone presented with obstructive uropathy and was successfully treated with surgical intervention. To the best of our knowledge, this is the first reported case of the largest preputial stone in Malaysia.
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
Authors: Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Antonella Riva, Paola Borgia, Domenico Tortora, Mohamad Maghnie, Carlo Minetti, Eloisa Gitto, Michele Iacomino, Simona Baldassari, Chiara Fiorillo, Federico Zara, Pasquale Striano, Vincenzo Salpietro
Journal: Front Neurol (2021)
Keywords: wieacker-wolff syndrome, zc4h2, arthrogryposis, case report, exome sequencing, neurodevelopmental disorders, neuromuscular junction, recurrent hypoglycemic events
MeSH terms: Case Reports

Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the developing human brain. The main clinical features described in WWS families carrying ZC4H2 pathogenic variants encompass having a short stature, microcephaly, birth respiratory distress, arthrogryposis, hypotonia, distal muscle weakness, and broad neurodevelopmental delay. We hereby report a Sicilian family with a boy clinically diagnosed with WWS and genetically investigated with exome sequencing (ES), leading to the identification of a c.593G>A (p. R198Q) hemizygous pathogenic variant in the ZC4H2 gene. During the first year of life, the onset of central hypoadrenalism led to recurrent hypoglycemic events, which likely contributed to seizure susceptibility. Also, muscle biopsy studies confirmed a pathology of the muscle tissue and revealed peculiar abnormalities of the neuromuscular junction. In conclusion, we expand the phenotypic spectrum of the WWS-related neurodevelopmental disorders and discuss the role of ZC4H2 in the context of the potential neuroendocrinological and neuromuscular features associated with this condition.
Spontaneous Regression of Plasmablastic Lymphoma in an Immunocompetent Patient: Case Report and Review of the Literature
Authors: Kee Tat Lee, Nurul Akmar Misron, Norasmidar Abdul Aziz, Chin Hau Wong, Hong Keng Liew
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Plasmablastic lymphoma (PBL) is a rare and highly aggressive type of lymphoma, which is commonly associated with human immunodeficiency virus (HIV) infection. Spontaneous regression of aggressive lymphomas is rare as they typically require administration of chemotherapy and radiotherapy for treatment. Here, we describe a case of a spontaneous regression of PBL after nasal biopsy and computed tomography (CT) guided biopsy of paravertebral mass in an immunocompetent patient. We postulate that the patient's immune system may be activated as a result of the stress and physical trauma brought on by nasal and paravertebral mass biopsy. Our case highlights the rare phenomenon of spontaneous regression of lymphoma which needs to be further studied on to establish its underlying pathophysiology.
Temporal choroidal fissure cyst: a rare cause of temporal lobe epilepsy
Authors: Asma Achour, Walid Mnari, Ahmed Miladi, Badii Hmida, Mezri Maatouk, Mondher Golli, Ahmed Zrig
Journal: Pan Afr Med J (2020)
Keywords: choroidal fissure cyst, epilepsy, seizures
MeSH terms: Choroid Plexus / diagnostic imaging, Cysts / complications, Epilepsy, Temporal Lobe / etiology, Case Reports, Child, Choroid Plexus / pathology, Cysts / diagnostic imaging, Epilepsy, Temporal Lobe / diagnosis, Female, Hippocampus / diagnostic imaging, Hippocampus / pathology, Humans, Magnetic Resonance Imaging, Temporal Lobe / diagnostic imaging, Temporal Lobe / pathology

Only a few cases of temporal choroidal fissure cyst are reported. We describe a new case of an 8 years old girl who manifested complex partial seizure. The diagnosis was made by magnetic resonance imagining (MRI). The signal intensity of the cyst was identical to the cerebrospinal fluid (CSF), and the underlying hippocampus was compressed by the cyst. The seizures were medically controlled. The value of MRI in the diagnosis and medical treatment will be discussed.
Pulmonary Alveolar Microlithiasis: An Isolated Case in a Hispanic Male
Authors: Preethi Dileep Menon, Sarah Hackman
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

Pulmonary alveolar microlithiasis (PAM) is an uncommon hereditary lung disease characterized by widespread deposition of calcium phosphate microliths within the alveolar spaces. It is considered an autosomal recessive disease with a mutation in a gene encoding a sodium phosphate cotransporter. The imaging findings in the early phase of disease can be mistaken for miliary tuberculosis or sarcoidosis. However, the classic radiologic findings in the later phases of disease show numerous opacities causing a "snowstorm" appearance to the lungs that corresponds with widespread deposition of microliths throughout the lung parenchyma. Although the disease often progresses over a slow time course, there are no effective therapies, and bilateral lung transplantation is recommended when there are increasing oxygen requirements or evidence of pulmonary hypertension.
A Tumor-Like Lump in the Palm Caused by an Inconspicuous-for 75 Years-Bullet
Authors: Efstratios D Athanaselis, Apostolos Fyllos, Nikolaos Stefanou, Socrates E Varitimidis, Dimitrios Giannikas
Journal: Case Rep Orthop (2020)
MeSH terms: Case Reports

Case:
An unusual case of a foreign body in the hand is described here. Excision of a tumor-like soft tissue mass revealed a 75-year-old World War II bullet fragment of which patient was unaware.
Conclusion:
Differential diagnosis of hand lumps and inflammatory reaction must always include retained foreign bodies even after a very long period of posttraumatic quiescence or patient's inability to provide a relative injury case history.
A Hirschsprung Pull-through, "with a Twist"
Authors: Hira Ahmad, Devin R Halleran, Raquel Quintanilla, Alessandra C Gasior, Richard J Wood, Marc A Levitt
Journal: European J Pediatr Surg Rep (2020)
Keywords: hirschsprung disease, congenital intestinal obstruction, enterocolitis, pull-through reoperation, twisted pull-through
MeSH terms: Case Reports

Hirschsprung disease is the most common neurocristopathy in children, resulting in the congenital loss of enteric ganglia. Surgery, which involves resecting the aganglionic segment and restoring bowel continuity, usually results in a good outcome; however, some patients suffer from multiple episodes of enterocolitis and other obstructive symptoms. A contrast enema, examination under anesthesia, and rectal biopsy can identify the cause of obstruction in many cases, including a rare explanation, a twist of the pull-through, a case of which we present here.
Acquired abdominal intercostal hernia: a case report and literature review
Authors: Salim Abunnaja, Kevin Chysna, Inam Shaikh, Giuseppe Tripodi
Journal: Case Rep Surg (2014)

Acquired abdominal intercostal hernia (AAIH) is a rare disease phenomenon where intra-abdominal contents reach the intercostal space directly from the peritoneal cavity through an acquired defect in the abdominal wall musculature and fascia. We discuss a case of a 51-year-old obese female who arrived to the emergency room with a painful swelling between her left 10th rib and 11th rib. She gave a history of a stab wound to the area 15 years earlier. A CT scan revealed a fat containing intercostal hernia with no diaphragmatic defect. An open operative approach with a hernia patch was used to repair this hernia. These hernias are difficult to diagnose, so a high clinical suspicion and thorough history and physical exam are important. This review discusses pathogenesis, clinical presentation, complications, and appropriate treatment strategies of AAIH.
Salmonella empyema: a case report
Authors: Shivanshan Pathmanathan, Suminda Welagedara, Petra Dorrington, Siddharth Sharma
Journal: Pneumonia (Nathan) (2015)
Keywords: salmonella, empyema, enterica, pleural, pulmonary
MeSH terms: Case Reports

Non-typhi Salmonella enterica infection rarely presents as a pleural empyema, with only 31 cases published in the literature over the last century. We report a case of an 85-year-old female with worsening shortness of breath and pleuritic chest pain, and a chest radiograph showing a right-sided pleural effusion. Thoracocentesis revealed Salmonella enterica serovar Typhimurium to be the causative organism. This was on a background of recurrent pleural effusion secondary to congestive heart failure, with thoracocentesis one month previously showing a transudative picture. This case highlights the possibility of S. enterica as a differential diagnosis in the management of pleural effusions.
Saphenous Vein Graft Aneurysm after Drug-Eluting Stent Implantation: Treatment by Covered Stent
Authors: Kyriacos Papadopoulos, Panayiotis Avraamides
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Saphenous vein graft aneurysms (SVGAs) occur as a rare complication of coronary artery bypass graft but increases the risk of morbidity and mortality. Atherosclerosis is considered to be the most common cause of saphenous vein graft aneurysms. Other etiologies include infections, varicosities of vein grafts, and surgical technical issues. These aneurysms usually present as an incidental finding of a mediastinal or cardiac mass on chest radiograph. Symptomatic aneurysms may present with a wide variety of clinical manifestations such as chest pain/angina, shortness of breath, and myocardial infarction. Treatment options of SVG aneurysms include surgery, percutaneous intervention (including vascular plugs, covered stents, and embolization coils), and conservative management. Herein, we describe a case of a saphenous vein graft aneurysm that developed after percutaneous intervention, which has never been described, to our knowledge, in the previous literature. The aneurysm was treated with polytetrafluoroethylene covered stent implantation.
Squamous Cell Papilloma of the Esophagus: A Case Series Highlighting Endoscopic and Histologic Features
Authors: Dustin J Uhlenhopp, Kristin M Olson, Tagore Sunkara
Journal: Case Rep Gastrointest Med (2020)
MeSH terms: Case Reports

Esophageal squamous papillomas are rare epithelial lesions typically discovered incidentally during EGD. Their prevalence is estimated to be less than 0.01% in the general population. We present three cases of esophageal squamous papillomas identified histologically. It may be possible to identify these lesions macroscopically. One study provided a positive predictive value of 88% for squamous papilloma utilizing the triad of exophytic growth, wart-like projections, and surface vessel crossing seen on narrow band imaging during endoscopy. The etiology is unclear. Chronic mucosal irritation from GERD or esophagitis is the prevailing theory of pathogenesis, but HPV has been detected in some lesions. The malignant potential of these lesions is considered controversial. There are documented cases demonstrating complications with squamous cell carcinoma, so we recommend removal of all esophageal squamous papillomas; however, the small absolute number of cases documented in the literature makes drawing any associations or conclusions between esophageal squamous papillomas and squamous cell carcinoma difficult. Further research is needed regarding treatment and surveillance. This case series helps contribute to the small but growing literature of this rare finding.
A Case of Sclerosing Mesenteritis during Etanercept Therapy for Psoriatic Arthritis
Authors: Aleksandra Bukiej
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Sclerosing mesenteritis (SM) is a chronic nonspecific mesenteric inflammation. I report a case of a 72-year-old male treated with etanercept for psoriatic arthritis for 7 years who developed abdominal discomfort, urinary retention, acute kidney injury, and bilateral ureteric obstruction. CT abdomen revealed retroperitoneal mass. Biopsy showed sclerosing mesenteritis. One year later, after discontinuation of etanercept, CT abdomen showed regression of the mass. To my knowledge, this is first case report of reversible sclerosing mesenteritis associated with etanercept therapy.
False-Negative CSF Cryptococcal Antigen with Cryptococcus gattii Meningoencephalitis in Southeastern United States: A Case Report and Literature Review
Authors: Shawn Esperti, Austen Stoelting, Andrew Mangano, Dveet Patel, Jilian Sansbury, Robert Sherertz
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

A 70-year-old immunocompetent male in South Carolina was admitted secondary to altered mental status and headache without focal neurological deficits. Head CT was negative. Lumbar puncture (LP) revealed normal glucose, elevated protein, and lymphocytosis. Opening pressure was 15 cm of H20. CSF lateral flow assay was negative for cryptococcal antigen; CSF cultures showed no growth. The patient rapidly improved on acyclovir and was diagnosed with presumed viral meningitis, as viral PCR and fungal culture were pending at time of discharge. The patient's condition quickly worsened and the patient returned one day later with right arm weakness and dysarthria. Brain MRI revealed T2/flair signal abnormalities in the left frontal lobe with associated parenchymal enhancement. Repeat LP revealed increasing white blood cell count with a worsening lymphocytosis and decreasing glucose, and opening pressure remained normal. CSF fungal culture from the first admission grew Cryptococcus gattii, and repeated CSF cryptococcal antigen and culture returned positive. The patient was started on IV steroids, induction Amphotericin and Fluconazole, followed by maintenance oral Fluconazole. The patient's clinical course was complicated by a brainstem lacunar infarction, which led to demise. We present this case of Cryptococcus gattii meningoencephalitis to highlight the risk factors, characteristics, and challenges in diagnosis and treatment of an emerging disease in the Southeastern United States.
A Novel STAT3 Mutation in a Qatari Patient With Hyper-IgE Syndrome
Authors: Natalia S Chaimowitz, Justin Branch, Anaid Reyes, Alexander Vargas-Hernández, Jordan S Orange, Lisa R Forbes, Mohammed Ehlayel, Saleema C Purayil, Maryam Ali Al-Nesf, Tiphanie P Vogel
Journal: Front Pediatr (2019)
Keywords: ad-hies, job syndrome, stat3, case report, eczema, pneumonia
MeSH terms: Case Reports

Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari child with a history of recurrent staphylococcal skin infections since infancy, who was found to have a novel, de novo mutation in STAT3 (c.1934T>A, p.L645Q). The absence of mucocutaneous candidiasis and undetectable IgE levels until the age of 7 years prolonged the time to molecular confirmation of the cause for the patient's immune deficiency. STAT3 p.L645Q was found to have decreased transcriptional capacity. The patient also had low levels of Th17 cells and STAT3 phosphorylation was impaired in patient-derived cells. Nearly 100 unique mutations in STAT3 have been reported in association with AD-HIES.
A Rare Case of Multifocal Prostatic Blue Nevus
Authors: Elias J Farran, Preston S Kerr, Christopher D Kosarek, Joseph Sonstein, Eduardo J Eyzaguirre
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

Prostatic blue nevus is a rare benign pathologic diagnosis most commonly diagnosed incidentally on many different types of prostate specimens. Blue nevus is the deposition of stromal melanin characterized by spindle cells within the fibromuscular stroma which stains positive for melanin-specific stains Fontana-Masson and S100 and stains negative for CD68, HMB45, and iron stains. We report the case of a multifocal and bilateral blue nevus in a 52-year-old Hispanic male who presented with an elevated prostate-specific antigen of 4.3 and mild obstructive lower urinary tract symptoms, found by transrectal ultrasound-guided prostate needle biopsy. The biopsy also revealed benign prostatic tissue with postatrophic hyperplasia and chronic inflammation. This is the 35th reported case of prostatic blue nevus and the third to show multifocal blue nevus.
Desmoplastic Melanoma Arising after 1,064 nm q-Switched Nd:YAG Laser of a Suspected Solar Lentigo
Authors: Leah Cohen, Sonali Nanda, Martin Zaiac
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

Objectives:
To present a case of desmoplastic melanoma (DM) arising after laser therapy of a suspected solar lentigo with the 1,064 nm Q-switched (QS) Neodymium:Yttrium-Aluminum-Garnet (Nd:YAG) laser and discuss the safety of treating suspected solar lentigines with laser therapy.
Methods:
Case presentation with discussion.
Results:
We describe a patient who developed DM after 1,064 nm QS Nd:YAG laser therapy to a suspected solar lentigo.
Conclusions:
Limited generalizable studies regarding the safety of laser therapy for solar lentigines exist, specifically for the 1,064 nm QS Nd:YAG laser. Therefore, we recommend caution is taken when considering laser therapy for these lesions, as well as strong consideration for histologic confirmation prior to therapy.
Functional Bladder Paraganglioma Treated by Partial Cystectomy
Authors: Amine Hermi, Hamza Ichaoui, Aziz Kacem, Houcem Hedhli, Faten Gargouri, Ramzi Khiari, Samir Ghozzi
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Paraganglioma is a rare neuroendocrine tumor that arises from the autonomic nervous system. The urinary bladder paraganglioma accounts for less than 0.1% of bladder tumors. It remains a challenging entity to diagnose and treat due to its rareness and the lack of specific symptoms. Treatment modalities include transurethral resection and cystectomy (partial or total). The authors report a new case of an isolated paraganglioma of the urinary bladder in a 52-year-old female patient that underwent partial cystectomy. This case aims to remind the clinical, histological and therapeutic features of this rare tumor.
Clear cell adenocarcinoma of the ovary with a sarcoid reaction in the spleen and regional lymph nodes: A case report
Authors: Hiroshi Matsushima, Taisuke Mori, Tsuchiya Hiroshi, Kazuya Ooshima, Jo Kitawaki
Journal: Gynecol Oncol Case Rep (2013)
Keywords: epithelial ovarian cancer, non-caseating epithelioid cell granuloma, sarcoidosis

•Preoperative diagnosis of sarcoid reactions is important to avoid overtreatments.•Sarcoid reactions could act as a favorable prognostic factor in ovarian cancer.