OpenMed/multicare-articles huggingface dataset:
Cystinosis presenting with findings of Bartter syndrome
Authors: Behzat Özkan, Atilla Çayır, Celalettin Koşan, Handan Alp
Journal: J Clin Res Pediatr Endocrinol (2011)
Keywords: cystinosis, bartter syndrome, metabolic alkalosis
MeSH terms: Bartter Syndrome / diagnosis, Cystinosis / diagnosis, Nephrotic Syndrome / diagnosis, Case Reports, Acidosis / etiology, Bartter Syndrome / complications, Child, Preschool, Cornea / metabolism, Crystallization, Cystine / chemistry, Cystine / metabolism, Cystinosis / metabolism, Diagnosis, Differential, Fanconi Syndrome, Humans, Male, Nephrotic Syndrome / metabolism, Cystine

A five-year-old boy was referred to our pediatric clinic for evaluation of failure to thrive, headache, intermittent high fever, restlessness, polyuria, and polydipsia. His weight and height measurements were under the 3rd percentile. Clinical findings consisted of frontal bossing, carious teeth, O-bain deformity of the lower extremities, and moderate dehydration. The presence of metabolic alkalosis, hypokalemia, hypochloremia, and high renin and aldosterone levels were suggestive of Bartter syndrome and a treatment regimen for Bartter syndrome was started. At follow-up, the polyuria and hyponatremia were found to persist. A reassessment of the patient revealed findings consistent with proximal renal tubular acidosis such as metabolic acidosis with a high urinary pH, proteinuria, aminoaciduria with phosphaturia and hypercalciuria. Based on the presence of parental consanguinity as well as polyuria, proteinuria, low tubular reabsorption of phosphorus, generalized aminoaciduria, light yellow skin and hair color, the probable diagnosis of cystinosis was established and was confirmed by slit-lamp examination of the cornea showing cystine crystal deposition. Our case is a good example demonstrating that development of metabolic alkalosis does not exclude cystinosis and that all findings of the patient should be thoroughly evaluated.
Efficient Recognition and Closed Reduction of Locked Lateral Patella Dislocation
Authors: Justin Aflatooni, Scott D McKay
Journal: Cureus (2023)
Keywords: atraumatic, irreducible, irreducible closed reduction, locked patella dislocation, patella dislocation, patella fracture
MeSH terms: Case Reports

Patellar dislocation is not an uncommon injury in the general population that can often be managed in the emergency room with a closed reduction. However, rarely, the patella can become impacted on the lateral femoral condyle and become resistant to closed reduction techniques, which is known as a locked patellar dislocation. This injury is reported in the literature as requiring advanced imaging with a costly workup, operative intervention, or extensive manipulation under general anesthesia, and, to our knowledge, has never been documented to be closed reduced outside the operating room. In this report, we present a 17-year-old male with a locked lateral patella dislocation and describe a new approach to efficiently diagnose and close reduce this injury in the ER under conscious sedation without advanced pre-treatment studies or urgent treatment in the operating room (OR).
Henoch-Schönlein Purpura (IgA Vasculitis) in Association with Thyrotoxicosis
Authors: Mojgan Sanjari, Mohammadreza Shakibi, Moeinadin Safavi
Journal: Case Rep Endocrinol (2021)
MeSH terms: Case Reports

Graves' disease is the most common cause of hyperthyroidism, which is characterized by thyroid antibodies and the following clinical manifestations: goiter, ophthalmopathy, and pretibial myxedema. On the other hand, Henoch-Schönlein purpura is an IgA-mediated small-vessel vasculitis. Review of the literature showed a relationship between propylthiouracil overdose and the following Henoch-Schönlein purpura (IgA vasculitis) as a side effect. The patient was a 31-year-old woman with a chief complaint of tremor and significant weight loss who contracted pruritic palpable purpura during her disease course. Then, she underwent the treatment of hyperthyroidism by methimazole which intensified her cutaneous lesions. The diagnosis of Henoch-Schönlein purpura (IgA vasculitis) was confirmed after skin biopsy. Finally, she was treated with colchicine, prednisolone, and radioiodine ablation, which caused her lesions to disappear. The temporal priority of pruritic palpable skin lesions to hyperthyroidism treatment with methimazole suggested that Henoch-Schönlein purpura (IgA vasculitis) was related to hyperthyroidism and was intensified by antithyroid agents in this patient.
Case report: Rapid improvement of crossed cerebellar diaschisis after intravascular laser irradiation of blood in a case of stroke
Authors: Wan-Hua Yang, Shiou-Ping Lin, Shin-Tsu Chang
Journal: Medicine (Baltimore) (2017)
MeSH terms: Cerebellar Diseases / therapy, Infarction, Anterior Cerebral Artery / complications, Low-Level Light Therapy, Case Reports, Aged, Cerebellar Diseases / etiology, Endovascular Procedures, Humans, Male

Rationale:
Crossed cerebellar diaschisis (CCD) is a poor prognostic factor after stroke because without immediate cerebral reperfusion no further improvements in the patient's condition can be achieved. We investigated the clinical effects of intravascular laser irradiation therapy (ILIB) on CCD and evaluated the therapeutic effect in the sub-acute post-stroke stage.
Patient concerns:
The 77-year-old male with cerebral infarction in the territory of the right anterior cerebral artery only underwent conservative treatment including hydration and aspirin in the acute post-stroke stage.
Diagnosis:
He was diagnosed as stroke based on the clinical presentations and imaging findings.
Intervention:
Once the patient was in stable condition, he underwent a daily hour-long ILIB (He-Ne laser) for ten consecutive days during the sub-acute post-stroke stage.
Outcomes:
We used single-photon emission computed tomography (SPECT) before and after intravascular laser irradiation to detect changes in cerebral and cerebellar perfusion. Then, we compared the two images. CCD was detected using the first SPECT. After intervention by ILIB, the second SPECT showed greater perfusion in the affected cerebellar hemisphere.
Lessons:
We found that ILIB helped eliminate CCD, which was previously shown to be an untreatable condition using any intervention during the sub-acute post-stroke stage. Stroke patients could therefore greatly benefit from ILIB.
Case Report: Central Nervous System Immune Reconstitution Inflammatory Syndrome Related to Bacterial Meningitis
Authors: Mengyan Hu, Sanxin Liu, Danli Lu, Yi Zhong, Dafan Yu, Wei Qiu, Zhengqi Lu, Bingjun Zhang
Journal: Front Immunol (2021)
Keywords: staphylococcus aureus, bacterial meningitis, case report, immune reconstitution inflammatory syndrome, pregnancy
MeSH terms: Central Nervous System / immunology, Central Nervous System Diseases / immunology, Immune Reconstitution Inflammatory Syndrome / immunology, Meningitis, Bacterial / immunology, Pregnancy Complications, Infectious / immunology, Case Reports, Research Support, Non-U.S. Gov't, Adrenal Cortex Hormones / therapeutic use, Central Nervous System / drug effects, Central Nervous System / microbiology, Central Nervous System Diseases / drug therapy, Central Nervous System Diseases / microbiology, Female, Humans, Immune Reconstitution Inflammatory Syndrome / drug therapy, Immune Reconstitution Inflammatory Syndrome / microbiology, Meningitis, Bacterial / drug therapy, Meningitis, Bacterial / microbiology, Pregnancy, Pregnancy Complications, Infectious / drug therapy, Pregnancy Complications, Infectious / microbiology, Treatment Outcome, Young Adult, Adrenal Cortex Hormones

Central nervous system immune reconstitution inflammatory syndrome (CNS-IRIS) describes clinical characteristics that may be observed in previously immunocompromised patients during rapid restoration of immunity function in the presence of a pathogen. There have been no reports about CNS-IRIS related to bacterial meningitis so far. Here, we report a 24-year-old pregnant female patient with bacterial meningitis. Her clinical and neuroradiological condition worsened after induced labor despite great effective anti-infective therapy. CNS-IRIS was considered. Corticosteroids were administered, and the patient gradually recovered. We present the first case of CNS-IRIS associated with bacterial meningitis.
A Pink Herring in the Colon: A Case Report of Eosinophilic Colitis Masking Invasive Adenocarcinoma of the Colon
Authors: David Malcolm Milne, Jason Rattan, Alyssa Muddeen, Amrit A Rambhajan
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Eosinophilic colitis is an inflammatory condition in which the wall of the colon becomes infiltrated by eosinophils which stain densely pink on microscopy. It is an uncommon clinical entity which has a long list of differential diagnoses. We present a case of a patient whose biopsy at colonoscopy revealed eosinophilic colitis which led to a delay in the diagnosis and subsequent treatment of colon cancer. A 35-year-old male presented with a six-week history of right lower quadrant abdominal pain associated with diarrhoea and weight loss. Colonoscopy showed an inflamed cecum; computed tomography revealed a small ascitic fluid collection in the right iliac fossa. Biopsy showed eosinophilic colitis, and he was treated conservatively with albendazole and mesalamine. The patient failed to improve over the following month with continued weight loss. A repeat CT scan showed a right iliac fossa mass. A right hemicolectomy was performed with histopathology from the specimen showing mucinous adenocarcinoma. Eosinophilic colitis can mask colon cancer and should be considered a diagnosis of exclusion.
Cerebral Vasculitis in Ulcerative Colitis Is Predominantly Venular: Case Report and Review of the Literature
Authors: Paul T Parks, Alexander S Easton
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Extraintestinal complications of ulcerative colitis include isolated case reports of cerebral vasculitis. In this case report, we describe autopsy findings in a 50-year-old female who died as a result of massive multifocal cerebral hemorrhage. Microscopic examination of the left colon showed findings typical for ulcerative colitis. Examination of the brain showed an extensive vasculitis. More affected vessels were noted in grey matter than in white matter. Many showed fibrinoid necrosis, invasion by neutrophils and thrombosis. There was extensive perivascular hemorrhage with associated infarction. Vessel analysis shows most of the vessels to have been venous rather than arterial. There were no perivascular sleeves of demyelination to suggest a primary demyelinating disorder, such as acute hemorrhagic leucoencephalitis. Our analysis shows that veins are the likely target of cerebral vasculitis in ulcerative colitis. This has clinical implications because venous occlusion generally causes massive intracerebral hemorrhage with a high mortality.
A large sublingual epidermoid cyst with parapharyngeal space extension: A case report
Authors: Hanpon Klibngern, Chanisa Pornchaisakuldee
Journal: Int J Surg Case Rep (2020)
Keywords: case report, epidermoid cyst, sublingual, transoral
MeSH terms: Case Reports

Introduction:
Epidermoid and dermoid cysts in the floor of the mouth are uncommon. A large cyst can lead to functional morbidities including airway, swallowing and speech problems. The treatment of choice is surgical excision. To obtain a good result, the decision for optimal surgical technique is valuable.
Case presentation:
A young female patient presented with a slowly growing mass at the submandibular area and swelling in the floor of mouth. The MRI showed large sublingual cyst extended posteriorly to the parapharyngeal space. She underwent surgical excision of the cyst size 6.5 × 3.2 × 2.5 cm via an intraoral approach. The pathological examination revealed a benign stratified squamous epithelium-lined cyst with no evidence of adnexal structure consistent with an epidermoid cyst. The patient remained disease-free after two years of follow-up.
Discussion:
Generally, large sublingual cysts over 6 cm located or transgress below the mylohyoid muscle are removed by an extraoral approach. Our team reported the first case of a large lateral sublingual epidermoid cyst with parapharyngeal extension removed by an intraoral approach. Preoperative imaging is important for surgical approach selection.
Conclusion:
Successful management of sublingual epidermoid cyst extended to the parapharynx is feasible by an intraoral approach with excellent functional and cosmetic outcomes.
Perforating eyelid injury extending to the brain stem in a 17-year-old woman: a case report
Authors: Eiichiro Noda, Makoto Inoue, Izumi Yoshikawa-Kobayashi, Toshiyuki Nagamoto
Journal: J Med Case Rep (2010)

Introduction:
This case report describes a patient who had a perforating eyelid injury that extended to the brain stem.
Case presentation:
A 17-year-old Japanese woman complained of decreased vision in her right eye, with severe ocular pain and headaches, after the metal tip of an umbrella struck her upper right eyelid accidentally. Her vision in the right eye decreased to light perception with commotio retinae, intraretinal hemorrhage, and severe lid swelling. Magnetic resonance imaging (MRI) demonstrated edema of the head of the caudate nucleus and putamen, and the edema extended to the hypothalamus. The MRI findings indicated that the umbrella tip had penetrated through the eyelid and the posterior orbital wall. Vision improved to 20/50 in the right eye, with subretinal fibrosis caused by the choroidal rupture.
Conclusions:
We recommend that MRI be performed on the orbit and brain in patients who appear to have symptoms that are inconsistent with the observed injury and when a severe orbitocranial injury is suspected.
Duodenal mucosal damage is associated with proliferative activity of Brunner's gland hamartoma: a case report
Authors: Mayumi Akaki, Shoji Taniguchi, Kinta Hatakeyama, Ryoji Kushima, Hiroaki Kataoka
Journal: BMC Gastroenterol (2014)
MeSH terms: Brunner Glands / pathology, Cell Proliferation, Duodenal Diseases / pathology, Hamartoma / pathology, Intestinal Mucosa / pathology, Intestinal Polyps / pathology, Case Reports, Research Support, Non-U.S. Gov't, Adult, Brunner Glands / chemistry, Hamartoma / chemistry, Humans, Intestinal Mucosa / chemistry, Intestinal Polyps / chemistry, Ki-67 Antigen / analysis, Male, Metaplasia / metabolism, Metaplasia / pathology, Mucin 5AC / analysis, Ki-67 Antigen, Mucin 5AC

Background:
Brunner's gland hamartoma is a rare tumor, predominantly found in the fifth to sixth decades of life. Generally, it is a single pedunculated polyp, rarely larger than 5 cm. Asymptomatic cases are found incidentally, but cases with a large polyp tend to have gastrointestinal bleeding and/or obstructive symptoms. Polyp size increases in a time-dependent manner, however, the growth mechanism is unknown. We report a Japanese male case in his mid-twenties with an over 6 cm sized polyp.
Case presentation:
A 26-year-old man presented black stools and anemia. Endoscopic examination revealed a large pedunculated polyp at gastroduodenal junction. The polyp, subsequently resected by distal gastrectomy, was lobulated with random surface erosions and sized 6.4 × 3 cm. Histological examination revealed that the polyp arose from duodenal mucosa and was composed of hyperplastic Brunner's glands in lobules separated by fibromuscular septa, associated with lymphocytic infiltrate and lymphoid follicles. No evidence of malignancy was found. Thus, the lesion was diagnosed as Brunner's gland hamartoma. Further immunohistochemical studies indicated that gastric foveolar metaplasia is associated with surface epithelium covering upper two thirds of the polyp, showing immunohistochemical positivity for mucin 5 AC (MUC5AC). Below the metaplastic surface epithelium, Brunner's glands had high proliferative activity (MIB-1 labeling index: 7.9%). The similar staining pattern was observed at surface erosive sites (MIB-1 labeling index in Brunner's glands: 9%). On the other hand, surface epithelium in the lower side of the polyp still preserved intestinal nature, containing CDX2-positive nuclei and MUC2-positive goblet cells. Brunner's glands below the surface epithelium with intestinal characteristics showed low proliferative activity (MIB-1 labeling index: 0.77%).
Conclusion:
Proliferative activity of Brunner's glands was high at the sites with surface erosion and also below the epithelium showing gastric foveolar metaplasia. As gastric foveolar metaplasia occurs along with a mucosal repair process in the duodenum, mucosal damages underlay the hamartomatous proliferation of Brunner's glands and eventually resulted in a formation of large polypoid mass in this case.
Hereditary hemorrhagic telangiectasia patient presenting with brain abscess due to silent pulmonary arteriovenous malformation
Authors: Marios Themistocleous, Dimitrios Giakoumettis, Andreas Mitsios, Christos Anagnostopoulos, Aristoteles Kalyvas, Christos Koutsarnakis
Journal: Pan Afr Med J (2016)
Keywords: hereditary hemorrhagic teleangiectasia, arteriovenous malformation, brain abscess
MeSH terms: Arteriovenous Malformations / complications, Arteriovenous Malformations / genetics, Brain Abscess / complications, Brain Abscess / genetics, Lung / blood supply, Telangiectasia, Hereditary Hemorrhagic / complications, Telangiectasia, Hereditary Hemorrhagic / genetics, Case Reports, Adult, Arteriovenous Malformations / diagnostic imaging, Brain Abscess / diagnostic imaging, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male, Telangiectasia, Hereditary Hemorrhagic / diagnostic imaging, Tomography, X-Ray Computed

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present report we describe a case of cerebral abscess due to silent pulmonary arteriovenous malformation (AVM) in a young patient previously undiagnosed for hereditary hemorrhagic telangiectasia syndrome (HHT).
Bilateral subclavian steal syndrome
Authors: Reza Amini, Heather L Gornik, Leslie Gilbert, Sue Whitelaw, Mehdi Shishehbor
Journal: Case Rep Cardiol (2011)
MeSH terms: Case Reports

Bilateral subclavian steal syndrome is a rare condition. It is usually due to reversal of vertebral blood flow in the setting of bilateral proximal subclavian or left subclavian plus innominate artery severe stenosis or occlusion. This finding may cause cerebral ischemia related to upper extremities exercise. We report a case of bilateral subclavian steal secondary to total occlusion of the innominate and left subclavian arteries in a patient who presented with cardiomyopathy and flow reversal in the right carotid and bilateral vertebral arteries.
Isolated panniculitis with vasculitis of the male breast suspicious for malignancy on CT and ultrasound: a case report and literature review
Authors: Wei-Hsin Yuan, Anna Fen-Yau Li, Hui-Chen Hsu, Yi-Hong Chou
Journal: Springerplus (2014)
Keywords: computed tomography (ct), male breast cancer, panniculitis with vasculitis, sonography

Introduction:
We report a case of a 54-year-old male patient with a hard, painful nodule within his right breast which was misdiagnosed preoperatively as breast cancer.
Case description:
Preoperative work-up included physical examination, non-contrast chest computed tomography (CT), sonography, and sono-guided breast biopsy. Isolated breast panniculitis with vasculitis (BPWV), a rare disease, was diagnosed by histopathologic examination of tissue obtained from excisional biopsy.
Discussion and evaluation:
Subcutaneous panniculitis with or without vasculitis, a condition of nonsuppurative inflammatory process involving the subcutaneous fat layer of skin, is related to different causes. A palpable benign male breast lesion resembling a malignancy includes gynecomastia, panniculitis with or without vasculitis, fat necrosis, ruptured epidermal cyst, pseudoangiomatous stromal hyperplasia, subareolar abscess, intraductal papilloma, hematoma, and atypical fibroadenoma. To make an accurate preoperative diagnosis of a male breast mass, a physician has to carefully analyze various imaging findings. The cases of BPWV may present as an isolated breast lesion or as a component of a systemic disease. The diagnosis of the reported patient was compatible with an isolated BPWV because panniculitis and/or vasculitis were not present at other sites or organs at the time of diagnosis or during follow-up.
Conclusions:
Excisional biopsy and clinical data can provide the correct diagnosis and determined the appropriate treatment strategy of a male BPWV.
Vitamin B12 Deficiency due to Chlorofluorocarbon: A Case Report
Authors: Hemlata Bhaskar, Rekha Chaudhary
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Background. Vitamin B12 is vital for optimal functioning of various organ systems but more importantly the central nervous system and the hematological system. Deficiency of vitamin B12 clinically manifests as excessive daytime fatigue, memory difficulties, encephalopathy, myelopathy, peripheral neuropathy, and optic neuropathy. In occupational medicine, vitamin B12 deficiency has been reported with exposure to nitrous oxide in health care workers. However, not much is known about exposure to Freons in other industries and vitamin B12 deficiency. Aim. We are reporting a case of vitamin B12 deficiency in the setting of exposure to chlorofluorocarbon (CFC) gases. Case Report. A 55-year-old male refrigerator mechanic experienced recurrent visual symptoms, which included diplopia and blurring. A complete workup was done and was significant of vitamin B12 deficiency. However, his B12 levels were refractory to supplementation. Appropriate precautions at workplace improved patient's symptoms and were associated with significant improvement in B12 levels. Conclusion. To the best of our knowledge, this is the first reported case of vitamin B12 deficiency (that remains refractory to supplementation) in the setting of exposure to Freon gases.
Primary aortoduodenal fistula: a rare cause of massive gastrointestinal hemorrhage
Authors: George St Stoyanov, Deyan Dzhenkov, Lilyana Petkova
Journal: Autops Case Rep (2021)
Keywords: aortic aneurysm, autopsy, digestive system fistula, pathology
MeSH terms: Case Reports

Aortoduodenal fistula (ADF) is the most common type of aortoenteric fistula (AEF). This is a rare entity, which produces communication between an abdominal aortic aneurysm (AAA) and the gastrointestinal tract (GIT), resulting in massive gastrointestinal bleeding. AEF/ADF is difficult to recognize clinically, with the classical triad of symptoms including a pulsating, palpable mass, abdominal pain, and GIT bleeding. AEF/ADF can be classified into primary when a communication between an AAA and the GIT develops with no history of prior aortic reconstructive surgery, and secondary, where the communication is on the background of previous aortic reconstructive surgery. Herein we present a case report of a 75-year-old Caucasian male patient with a clinical history of AAA, who presented with massive GIT bleeding and expired shortly after. An autopsy revealed communication between an atherosclerotic AAA and the lower third of the duodenum.