OpenMed/multicare-articles huggingface dataset:
Botulinum Toxin A for the Treatment of a Child with SUNCT Syndrome
Authors: Yi Zhang, Haifeng Zhang, Ya-Jun Lian, Yun-Qing Ma, Nan-Chang Xie, Xuan Cheng, Lu Zhang
Journal: Pain Res Manag (2016)
MeSH terms: Botulinum Toxins, Type A / therapeutic use, Neuromuscular Agents / therapeutic use, SUNCT Syndrome / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Child, Follow-Up Studies, Humans, Male, Neuromuscular Agents, Botulinum Toxins, Type A

Background. Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing (SUNCT) syndrome is an unusual cause of headache, mainly described in older adults, and is rare in children. Pain attacks may be severe, frequent, and prolonged. The therapeutic benefits of many drugs are disappointing. Patient and Methods. A 12-year-old boy suffered severe headache and toothache for 20 days. As treatment with nonsteroidal anti-inflammatory drugs, anticonvulsants, and steroids proved ineffective, he was treated with ipsilateral multisite subcutaneous injections of botulinum toxin A 70 U around the orbit, the temporal area, and the upper gum. Results. The pain had reduced in frequency and severity by the fourth day after treatment and had completely disappeared after 7 days. There were no side effects or recurrence during a subsequent 17-month follow-up period. Conclusion. Botulinum toxin A can be used to treat the first episode of SUNCT in children over the age of 12 years.
The impact of using primaquine without prior G6PD testing: a case series describing the obstacles to the medical management of haemolysis
Authors: Cindy S Chu, Germana Bancone, Nay Lin Soe, Verena I Carrara, Gornpan Gornsawun, François Nosten
Journal: Wellcome Open Res (2019)
Keywords: g6pd deficiency, haemolysis, plasmodium vivax, primaquine
MeSH terms: Case Reports

Radical cure of Plasmodium vivax malaria in glucose-6-phosphate dehydrogenase (G6PD) deficient individuals employs weekly primaquine dosing. This is the only recommended regimen for this patient sub-group. If national malaria programs mandate daily primaquine dosing (the recommended regimen for G6PD normal individuals), then G6PD testing before prescription is necessary to avoid iatrogenic haemolysis in G6PD deficient individuals. In this case series, two P. vivax infected patients with unknown G6PD status from two different countries were prescribed primaquine as per national malaria program guidelines. During treatment both patients presented to the clinic with symptoms of anaemia after taking primaquine incorrectly. The clinical management of the iatrogenic severe haemolysis that occurred in these patients demonstrates the various adverse effects primaquine can cause, that other common medical treatments also have haemolytic potential, and how the diagnosis of G6PD deficiency can be elusive during acute haemolysis. Health care providers should provide careful instructions about primaquine dosing, be watchful for haemolysis, and have a high index of suspicion for G6PD deficiency in the presence of haemolysis if the G6PD status is previously unknown.
Case report: New subtype of gastric adenocarcinoma arising from an H. pylori infection-negative stomach: Foveolar epithelium and mucous neck cell-mixed type adenocarcinoma
Authors: Xuemei Liu, Xinglong Wu, Jiaxing Zhu, Kazuyoshi Yagi, Yoichi Ajioka, Shuji Terai, Kenichi Mizuno, Hongping Li, Biguang Tuo, Lianjun Di
Journal: Front Oncol (2022)
Keywords: h pylori infection-negative stomach, bidirectional differentiation, mixed foveolar epithelium and mucous neckcell-type adenocarcinoma, new subtype of gastric cancer, rareness
MeSH terms: Case Reports

The characteristics of Helicobacter pylori (H. pylori) infection-negative gastric cancer have not been well documented because of its rarity, despite several types of H. pylori infection-negative gastric cancers being reported. In this report, we describe a case of early gastric cancer that developed without H. pylori infection with characteristic magnifying narrow-band imaging and novel histological findings. The difficulty in making an accurate diagnosis and differential diagnosis is highlighted, with the goal of providing more clinical experience for the diagnosis of H. pylori infection-negative gastric cancer.
Primary Intradural Extramedullary Spinal Melanoma in the Lower Thoracic Spine
Authors: Kathrin Hering, Anke Bresch, Donald Lobsien, Wolf Mueller, Rolf-Dieter Kortmann, Clemens Seidel
Journal: Case Rep Oncol Med (2016)

Background Context. Up to date, only four cases of primary intradural extramedullary spinal cord melanoma (PIEM) have been reported. No previous reports have described a case of PIEM located in the lower thoracic spine with long-term follow-up. Purpose. Demonstrating an unusual, extremely rare case of melanoma manifestation. Study Design.
Case report:
Methods. We report a case of a 57-year-old female suffering from increasing lower extremity pain, left-sided paresis, and paraesthesia due to spinal cord compression caused by PIEM in the lower thoracic spine. Results. Extensive investigation excluded other possible primary melanoma sites and metastases. For spinal cord decompression, the tumor at level T12 was resected, yet incompletely. Adjuvant radiotherapy was administered two weeks after surgery. The patient was recurrence-free at 104 weeks after radiotherapy but presents with unchanged neurological symptoms. Conclusion. Primary intradural extramedullary melanoma (PIEM) is extremely rare and its clinical course is unpredictable.
Sheehan's Syndrome Presenting as Major Depressive Disorder
Authors: Mehmood I Qadri, Mohsin Bin Mushtaq, Iram Qazi, Sameena Yousuf, Aaliya Rashid
Journal: Iran J Med Sci (2015)
Keywords: hypopituitarism, major depressive disorder, postpartum hemorrhage
MeSH terms: Case Reports

Sheehan's syndrome or Simmond's disease is a rare endocrine disorder seen in clinical practice. The clinical spectrum is diverse and a high index of suspicion together with a good clinical acumen and proper diagnostic approach helps in early diagnosis and prompt treatment of this endocrinopathy. Sheehan's syndrome presenting as a major depressive disorder finds less mention in the literature. The patient discussed here is a 45-year-old female who had been on antidepressants and psychiatry follow up for a long time until she presented to our Out Patient Department (OPD), where she was evaluated in detail and diagnosed as a case of Sheehan's syndrome. The patient is doing well and is on a regular follow-up with us. Further studies are required to demystify the strength of this association in more detail and to elucidate the possible underlying mechanism.
Management of Poor-Grade Aneurysmal Subarachnoid Hemorrhage and Key Pearls for Achieving Favorable Outcomes: An Illustrative Case
Authors: Michael A Bamimore, Seung J Lee, Carlos Perez Vega, Nolan Brown, Julian L Gendreau, Rana Hanna Al Shaikh, Suren Jeevaratnam, William D Freeman
Journal: Cureus (2023)
Keywords: aneurysm, hydrocephalus, intracranial hypertension, poor-grade, sub-arachnoid hemorrhage
MeSH terms: Case Reports

Poor-grade aneurysmal subarachnoid hemorrhage (aSAH) is associated with high patient mortality. Despite recent advances in management strategies, the prognosis for poor-grade aSAH remains dismal. We present a challenging case of a patient presenting with poor-grade aSAH. A 46-year-old female presented to the emergency department after losing consciousness following a sudden headache. The examination showed a dilated left pupil and a Glasgow Coma Scale of 4. Imaging revealed a ruptured anterior communicating artery (ACoM) aneurysm, after which the patient was subsequently taken to the neuro-interventional radiology suite. We showed that carefully managing blood pressure and intracranial pressure (ICP) makes it possible to achieve a favorable outcome and reduce the risk of secondary brain injury in aSAH, regardless of patient presentation. We propose maintaining blood pressure at <160 mmHg prior to intervention, after which it can be permitted to increase to 160-240 mmHg for the purpose of preventing vasospasm. Additionally, transcranial doppler (TCD) is essential to detect vasospasm due to the subtility of symptoms in patients with aSAH. Once identified, vasospasm can be successfully treated with balloon angioplasty. Finally, targeted temperature management (TTM), mannitol, hypertonic saline, and neuromuscular paralysis are essential for the postoperative management of ICP levels.
Anorexia nervosa: from purgative behaviour to nephropathy. a case report
Authors: Emilia Manzato, Maria Mazzullo, Malvina Gualandi, Tatiana Zanetti, Giovanni Scanelli
Journal: Cases J (2009)

Background:
Individuals who suffer from Anorexia Nervosa refuse to maintain a minimally normal body weight, are intensely afraid of gaining weight and exhibit a significant disturbance in the perception of the shape and size of their body. Postmenarchal females with this disorder are amenorrohic. In the Binge-Eating/Purging subtype individuals regularly engage in binge eating and purging behaviour (i.e self-induced vomiting or misuse of laxatives, diuretics, or enemas).Hypokalaemia is often seen in chronic Anorexia Nervosa, especially that of the purging type (ANp), and, as well as electrocardiographic anomalies, this can lead to tubulointerstitial nephritis (hypokalaemic nephropathy) with typical histological characteristics. The physiopathological mechanisms behind this damage are linked to altered stimulation of vasoactive mediators, and to the ammonium-mediated activation of the alternative complement pathway. However, it has not yet been ascertained whether a variant of the pathway specific for ANp 1, exists.
Case presentation:
We describe herein a case of hypokalaemic nephropathy in a patient affected by chronic ANp who presented to our Centre for Eating Disorders.
Conclusion:
Hypokalaemia can provoke cardiovascular alterations as well as muscular and renal complications, and thus potential renal damage needs to be investigated in patients suffering from long-term purgative anorexia.
Hemothorax due to Ruptured Mycotic Aneurysm of Intercostal Arteries Associated with Infective Endocarditis
Authors: Eddie Y Liu, Jennifer Crawford, Haissam Haddad
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

We present a case of hemothorax due to ruptured mycotic aneurysm in three intercostal arteries in a 40-year-old male with methicillin-resistant Staphylococcus aureus infective endocarditis (IE) due to intravenous drug use. Microcoil embolization and thoracotomy successfully achieved hemostasis. Mycotic aneurysm is a rare complication of IE and is usually found in the intracranial vessels. Ruptured mycotic aneurysm in the intercostal arteries can be associated with IE and can present as acute hemothorax.
Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA Mutation
Authors: Jordan H Driskill, Helena Hwang, Alexandra K Callan, Dwight Oliver
Journal: Case Rep Genet (2022)
MeSH terms: Case Reports

Fibro-adipose vascular anomaly (FAVA) is a recently described complex and painful benign lesion found in young adults and the pediatric population composed of intramuscular vascular, fibrous, and adipose tissues. A previous report has identified the presence of somatic mosaic mutations in the gene for the catalytic subunit of phosphatidylinositol 3-kinase (PIK3CA) in cases of FAVA. Herein, we present a case of FAVA found in a 23-year-old male patient who presented with chronic wrist pain associated with a mass, and we identified an associated somatic activating mutation (H1047R) in PIK3CA. We briefly review the relevant literature surrounding the identification and histology of FAVA, the known mutational spectrum, downstream signaling pathways, and relevant treatment modalities. Our case highlights the association between FAVA and somatic mosaic activating PIK3CA mutations.
Thanatophoric dysplasia: a case report
Authors: Olusoji Edward Jagun, Mojisola Adejoke Olusola-Bello, Abiodun Folashade Adekanmbi, Omodele Oluyemisi Jagun, Tolani Oduwole
Journal: Pan Afr Med J (2020)
Keywords: fetal death, skeletal dysplasia, thanatophorism, ultrasound diagnosis
MeSH terms: Receptor, Fibroblast Growth Factor, Type 3 / genetics, Thanatophoric Dysplasia / diagnostic imaging, Ultrasonography, Prenatal, Case Reports, Adult, Female, Humans, Pregnancy, Pregnancy Trimester, Third, Thanatophoric Dysplasia / genetics, FGFR3 protein, human, Receptor, Fibroblast Growth Factor, Type 3

A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3). It is an autosommal dominant condition that has sporadic occurrence and early ultrasound scan has not been of great benefit in its detection. Diagnosis is mostly made in the third trimester. The fetal death is usually due to severe respiratory insufficiency from a reduced thoracic capacity and hypoplastic lungs and/or respiratory failure due to brainstem compression. In view of the autosomal dominance of TD, it will be advisable for a woman with previous history to have prenatal screening to relieve parental anxiety and prevent late detection.
A Step-by-Step Conservative Approach for CAD-CAM Laminate Veneers
Authors: Gerardo Durán Ojeda, Ismael Henríquez Gutiérrez, Álvaro Guzmán Marusic, Abelardo Báez Rosales, José Pablo Tisi Lanchares
Journal: Case Rep Dent (2017)
MeSH terms: Case Reports

The use of CAD/CAM technology has allowed the fabrication of ceramic restorations efficiently and with predictable results. Lithium disilicate is a type of glass ceramic material that can be used for the elaboration of laminate veneers, being monolithic restorations which require characterization through a covering ceramic in order to achieve acceptable esthetic results. The next case report shows a predictable clinical protocol for the rehabilitation of the anterior teeth through the preparation of CAD/CAM veneers (e.max CAD, Ivoclar Vivadent, Liechtenstein) which have been characterized by a nanofluorapatite ceramic (e.max Ceram, Ivoclar Vivadent, Liechtenstein) through the layering technique.
Colocolic intussusception in an older child: a rare case report and a literature review
Authors: Anupam Das, Lalmalsawma Ralte, A S Chawla, S V Arya, Anil Kumar, Ravi Saroha, Dheer Singh Kalwaniya
Journal: Case Rep Surg (2013)

Intussusception is a common cause of intestinal obstruction and colicky abdominal pain in the children, particularly infants, the commonest being the ileocolic variety with colocolic variety being a very rare entity. We present a case of colocolic intussusception in a 13-year-old boy which is otherwise seen in adults, precipitated by colonic malignancies. The patient presented with acute abdominal pain and bleeding perrectum with obstipation for 7 days. Preoperative USG abdomen was normal, and abdominal X-rays showed multiple air fluid levels. Intraoperative findings included a polypoidal growth in the descending colon as the leading point with the formation of a colo-colic intussusception. Following reduction and segmental resection, histopathology reported mucinous adenocarcinoma of colon which is also a rarity in pediatric age group. This case has been compared with previous cases reported in the literature.
Case Report: Coronary-Pulmonary Fistula Closure by Percutaneous Approach: Learning From Mistakes
Authors: Vladimir Rubimbura, Grégoire Girod, Alain Delabays, David Meier, David C Rotzinger, Olivier Muller, Salah D Qanadli, Éric Eeckhout
Journal: Front Cardiovasc Med (2022)
Keywords: congenital heart, dyspnea, fistula (coronary artery), percutaneous coronary intervention, shunt
MeSH terms: Case Reports

Coronary-pulmonary artery fistulas (CPAF) are congenital vascular anomalies detected incidentally in most cases. When a significant left-right shunt exists, surgical, or percutaneous treatment is indicated. We describe a challenging case of CPAF closure, by percutaneous approach, in a patient symptomatic for dyspnea and evidence of a significant left-right shunt. A first attempt to close the fistula was performed implanting a vascular plug but it quickly embolized. The plug was successfully retrieved. In a second attempt, we deployed several coils before implanting the vascular plug with total closure of the fistula. The combination of plugs and coils is associated with a higher success rate of closure.
Disseminated orbital actinomycetoma: a case report
Authors: Nita Umesh Shanbhag, Sumita Karandikar, Pooja Anil Deshmukkh
Journal: Indian J Ophthalmol (2010)
MeSH terms: Eye Infections, Bacterial / diagnosis, Mycetoma / diagnosis, Nocardia asteroides / isolation & purification, Orbit / microbiology, Orbital Diseases / diagnosis, Case Reports, Adolescent, Anti-Bacterial Agents / therapeutic use, Diagnosis, Differential, Eye Infections, Bacterial / drug therapy, Eye Infections, Bacterial / microbiology, Follow-Up Studies, Humans, Magnetic Resonance Imaging, Male, Mycetoma / drug therapy, Mycetoma / microbiology, Orbit / pathology, Orbital Diseases / drug therapy, Orbital Diseases / microbiology, Tomography, X-Ray Computed, Anti-Bacterial Agents

Mycetoma is a chronic granulomatous infection. Lower extremities are commonly involved. A 20-year-old male came with complaints of multiple sinuses on scalp, left eyelid swelling with a sinus and dystopia, since one year. On examination there was relative proptosis in left eye of 2 mm. Computed tomography scan showed soft tissue swelling of the pre-septal area of the left upper eyelid with orbital involvement. Magnetic resonance imaging showed increased left orbital volume and evident dystopia. Microbiology testing of the erosive scalp and lid lesions showed genus Nocardia, suggestive of actinomycetoma. This case is presented as it shows an unusual involvement of the orbit.
Acute posterior shoulder dislocation with reverse hill-sachs lesion of the epiphyseal humeral head
Authors: Luigi Patrizio, Ettore Sabetta
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Posterior dislocation of the shoulder is an unfrequent event that often occurs as a consequence of a direct trauma or epileptic crisis. Frequently the posterior dislocations are misunderstood, so they become chronic lesions. We reported a case of an acute posterior left shoulder dislocation with lesser tuberosity fracture and reverse Hill-Sachs lesions which involved more than 25% of the articular surface of the humeral head, in a 57-old-year man with right hemiparesis. We performed a synthesis of the lesser tuberosity with a screw, and we restored the shape of the humeral head with allograft. We achieved a good result that allows the patient to be able to do his previous activities of daily living.
Laparoscopic retroperitoneal resection of the duodenal gastrointestinal stromal tumors in neurofibromatosis type 1; Case Report and literature review
Authors: Al-Danakh Abdullah, Safi Mohammed, Mohammed Alradhi, Xinqing Zhu, Deyong Yang
Journal: Front Surg (2022)
Keywords: gastrointestinal stromal tumors, laparoscopic resection, neurofibromatosis, retroperitoneal approach, retroperitoneal tumor
MeSH terms: Case Reports

Background:
Neurofibromatosis type 1, also known as NF1, is a disorder that is passed down in an autosomal dominant manner. It manifests in a wide variety of tumors and affects several organ systems. It is expected that those carrying the NF1 gene will develop a rare mesenchymal tumor known as a gastrointestinal stromal tumor (GIST) more than general population.
Case report:
This research discusses a 42-year-old female patient with NF1 who was identified with a duodenal GIST but clinically and radiographically misinterpreted as having a retroperitoneal neurofibroma. She had minimally invasive retroperitoneal laparoscopic surgery to remove the tumor and primary anastomosis of the affected duodenal wall. A spindle cell GIST was entirely excised during surgery, as indicated by the pathologist. As a consequence of dialogue at a multidisciplinary team meeting, the patient was discharged from the hospital on the fourth postoperative day and is presently undergoing regular clinical follow-up.
Conclusion:
Anatomically problematic sites, such as the duodenal GIST in NF1 patients, can be treated safely with the laparoscopic retroperitoneal approach even when retroperitoneal neoplasia arises from the intrabdominal structure and protrudes into the retroperitoneal region.
Report of metastatic ileal neuroendocrine tumor to the submandibular gland
Authors: David Forner, Peter Cho, Martin Bullock, Daniel Rayson, S Mark Taylor, Robert D Hart, Jonathan R Trites, Matthew H Rigby
Journal: Int J Surg Case Rep (2018)
Keywords: carcinoid syndrome, metastasis, neuroendocrine tumor xx, submandibular gland

Background:
Neuroendocrine tumors (NETs) of small intestinal origin are generally slow-growing tumors with a relatively high propensity for metastases to surrounding organs and lymphatic tissue. We present the first case of an ileal NET metastasizing to the submandibular gland in a woman with metastatic carcinoid syndrome.
Case presentation:
A 55-year-old female presented with a four-month history of a palpable, left-sided neck mass. The patient had a history of metastatic neuroendocrine tumor of ileal origin, initially treated with primary resection 4.5 years previously, with known subdiaphragmatic metastases to the liver, mesenteric nodes, and peritoneum. Four years following primary resection she developed carcinoid syndrome leading to therapy with radiolabelled metaiodobenzylguanidine (MIBG), as well as telotristat etiprate in the context of a clinical trial due to progressive symptoms. A fine needle aspiration biopsy of the neck mass revealed an immunohistochemical staining pattern consistent with ileal NET. The patient underwent a left level 1b neck dissection and submandibular gland excision. Pathology was consistent with metastastic ileal NET.
Conclusion:
We report the first case of ileal NET metastasis to the submandibular gland. Familiarity with the carcinoid syndrome and associated physiology should be maintained as it can affect the head and neck on rare occasions. Maintaining a broad differential is key in diagnosis of undifferentiated neck masses.
Adult Gaucher disease in southern Tunisia: report of three cases
Authors: Faten Ben Rhouma, Faten Kallel, Rym Kefi, Wafa Cherif, Majdi Nagara, Hela Azaiez, Ines Jedidi, Moez Elloumi, Sonia Abdelhak, Sondes Mseddi
Journal: Diagn Pathol (2012)
MeSH terms: Gaucher Disease / genetics, Glucosylceramidase / genetics, Mutation, Case Reports, Adult, Bone Diseases / genetics, Bone Marrow Examination, DNA Mutational Analysis, Female, Gaucher Disease / complications, Gaucher Disease / enzymology, Gaucher Disease / pathology, Gaucher Disease / therapy, Genetic Predisposition to Disease, Hepatomegaly / genetics, Heterozygote, Homozygote, Humans, Male, Middle Aged, Phenotype, Splenomegaly / genetics, Thrombocytopenia / genetics, Tunisia, Glucosylceramidase

Background:
Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease.
Findings:
Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.
Conclusion:
The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.