OpenMed/multicare-articles huggingface dataset:
Glomangioma of the Kidney: A Rare Case of Glomus Tumor and Review of the Literature
Authors: Ammar Almaghrabi, Nizar Almaghrabi, Haneen Al-Maghrabi
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Background:
Glomus tumors are rare mesenchymal tumors originating from glomus bodies in the skin. Glomus tumors of the kidney are rare tumors and only a few cases have been reported in the medical literature. An extensive search revealed a very limited number of primary renal glomus tumors. Although most of these cases were benign in nature, including a case with uncertain diagnosis of malignant potential, two were malignant.
Case report:
We present a unique case of a 57-year-old male patient with an incidentally discovered 2 cm left renal mass. Histopathology examination and immunohistochemical studies confirm the diagnosis of glomangioma (a form of glomus tumor). The patient was followed for one year after partial nephrectomy and showed a benign course without any evidence of local recurrence or metastasis.
Conclusion:
To the best of our knowledge, this is the 16th case of primary benign renal glomus tumors. Primary renal glomus tumors are rare and may mimic other mesenchymal renal neoplasms radiologically. Proper investigation (including histopathological analysis and immunohistochemical staining) of kidney tumors is essential to make the diagnosis of glomus tumors, which usually show a benign clinical course following resection.
Graves' Thyrotoxicosis Leading to Adrenal Decompensation and Hyperandrogenemia in a Pediatric Patient with Salt-Wasting Congenital Adrenal Hyperplasia
Authors: Meghan E Fredette, Lisa Swartz Topor
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Introduction:
Thyroid hormone is known to accelerate glucocorticoid turnover. In a thyrotoxic state, individuals with adrenal insufficiency are unable to increase endogenous cortisol production to compensate for increased turnover, placing them at risk for symptoms of glucocorticoid deficiency and adrenal crisis. In patients with salt-wasting congenital adrenal hyperplasia (SW-CAH), hyperandrogenemia is a measurable reflection of relative glucocorticoid insufficiency.
Case presentation:
A 12-year-old girl with SW-CAH reported 3 recent episodes of vomiting without diarrhea, and accompanying tachycardia, responsive to stress dose steroids. In the previous 9 months, she unintentionally lost 2.6 kg. She had tachycardia and new thyromegaly. Labs showed suppressed TSH, elevated free T4 and total T3, and elevated thyroid stimulating immunoglobulin (TSI) consistent with Graves' disease. Adrenal androgens were markedly elevated. Maintenance hydrocortisone dose was 25 mg/m2/day and was not changed. Methimazole was initiated. Four weeks later, free T4 and adrenal androgens normalized. She had no further vomiting episodes.
Conclusions:
Thyrotoxicosis must be included in the differential diagnosis of individuals with SW-CAH who present with episodes concerning for adrenal crises, escalating hydrocortisone requirements, and/or inadequate suppression of adrenal hormones.
Myofibroma of the gingiva: a rare case report and literature review
Authors: Vaishali Narayen, Syed Afroz Ahmed, Charu Suri, Shahela Tanveer
Journal: Case Rep Dent (2015)

Myofibromas are benign uncommon fibroblastic tumors of the soft tissue, bone, or internal organs affecting all ages. These lesions histopathologically may mimic many other soft tissue tumors of the oral cavity such as spindle cell tumors of neurogenic and smooth muscle cell origin, thus leading to misdiagnosis and mistreatment. This case report describes a rare benign tumor, which presented as a soft tissue swelling on posterior gingiva. Surgical excision of the lesion was carried out under local anaesthesia. Histopathologic and immunohistochemical examination confirmed the diagnosis of myofibroma. Myofibroma should be included in the clinical differential diagnosis of masses of the oral soft tissues; however immunohistochemical examination is essential to establish an accurate diagnosis.
Mobitz type I as manifestation of acute lithium cardiotoxicity
Authors: Henrik Galust, Justin Seltzer, Jeremy Hardin, Nate Friedman, Alicia Minns
Journal: Toxicol Rep (2023)
Keywords: cardiotoxicity, ekg, lithium, mobitz type i, wenckebach
MeSH terms: Case Reports

Lithium induced cardiotoxicity is associated with several electrocardiographic (ECG) findings. The most commonly observed cardiac effects include QT prolongation, Twave abnormalities, and to lesser extent SA node dysfunction and ventricular arrythmias. We present a case of a 13-year-old female with acute lithium overdose whodeveloped Mobitz I, a manifestation of lithium associated cardiotoxity not previously reported. The patient had no significant past medical history and presented to the emergency department 1 h after intentional overdose of 10 tablets of unknown drug. Parents reported that the patient had visited her grandmother, who "regularly took many different kinds of medications," earlier that same evening. On physical examination the patient had reassuring vital signs, was in no acute distress,cardiopulmonary examination was normal, had clear sensorium, and no evidence of a toxidrome. On serological examination complete blood count, chemistries panel, and liver function tests did not show significant derangements. 4 h post-ingestion acetaminophen concentration was 28 mcg/ml and below indication for n-acetylcysteine antidote therapy. During her ED course she showed evidence of Mobitz I (Wenckebach) on 12-lead ECG. No prior ECGs were available for comparison. Medical toxicology was consulted at that time given concern for potential cardiotoxicity from an unknown xenobiotic. Serum dioxin and lithium concentrations were subsequently requested. Serum digoxin concentration was undetectable. Serum lithium concentrations was 1.7 mEq/L (0.6-1.2 mEq/L therapeutic range). The patient was treated with intravenous hydration at twice maintenance rate. Repeat lithium concertation 14 h post-ingestion was undetectable. During her admission, the patient remained hemodynamically stable and asymptomatic despite occasional episodes of Mobitz I, lasting seconds to minutes. Repeat 12-lead ECG obtained 20 h post-ingestion showed normal sinus rhythm. Cardiology recommendations included ambulatory Holter monitoring upon discharge and follow-up in clinic within two weeks. The patient was medically cleared after 36 h of monitoring and discharged after psychiatric evaluation. Our case demonstrates that patients who develop a new Mobitz I atrioventricular block of unclear etiology in the setting of acute ingestion should be screened for lithium exposure, even if otherwise free of more typical manifestations of lithium toxicity.
Thyroid storm presenting as septic shock in the intensive care unit: A Case Series
Authors: Niraj Kumar Keyal, Niru Pokharel, Sudesh Khanal
Journal: JNMA J Nepal Med Assoc (2020)
MeSH terms: Carbimazole / administration & dosage, Shock, Septic / diagnosis, Thyroid Crisis / blood, Thyroid Crisis / diagnosis, Thyroid Crisis / physiopathology, Thyroid Crisis / therapy, Case Reports, Adult, Antithyroid Agents / administration & dosage, Critical Care / methods, Diagnosis, Differential, Drug Administration Routes, Female, Humans, Middle Aged, Patient Care Management / methods, Radiography, Thoracic / methods, Resuscitation / methods, Rural Health Services, Thyroid Function Tests / methods, Treatment Outcome, Antithyroid Agents, Carbimazole

Thyroid storm is a rare endocrine emergency that rarely presents with septic shock. It occurs in thyrotoxic patients and is manifested by decompensation of multiple organs, triggered by severe stress. The diagnosis and response to treatment is made by Burch-Wartofsky point scale or Japanese thyroid association criteria due to lack of pathophysiology of thyroid storm. We reported series of patients that presented with altered sensorium, cough, fever, palpitation, shortness of breath and shock. Patient were treated initially for septic shock, later diagnosed as thyroid storm and was treated with oral carbimazole, propanolol and digoxin. From this, we want to emphasize that thyroid storm can have any presentation that should be kept in differential diagnosis of septic shock not responding to usual treatment; early diagnosis and treatment with oral medication can decrease morbidity and mortality in rural setting where intravenous form of antithyroid drug are not available for thyroid storm. Keywords: sepsis; septic shock; thyroid storm.
High-dose glycine treatment of refractory obsessive-compulsive disorder and body dysmorphic disorder in a 5-year period
Authors: W Louis Cleveland, Robert L DeLaPaz, Rashid A Fawwaz, Roger S Challop
Journal: Neural Plast (2009)
MeSH terms: Body Dysmorphic Disorders / drug therapy, Glycine / therapeutic use, Obsessive-Compulsive Disorder / drug therapy, Psychotropic Drugs / therapeutic use, Case Reports, Research Support, Non-U.S. Gov't, Body Dysmorphic Disorders / diagnosis, Body Dysmorphic Disorders / metabolism, Glycine / administration & dosage, Glycine Agents / administration & dosage, Glycine Agents / therapeutic use, Humans, Male, Models, Neurological, Obsessive-Compulsive Disorder / diagnosis, Obsessive-Compulsive Disorder / metabolism, Psychotropic Drugs / administration & dosage, Receptors, N-Methyl-D-Aspartate / metabolism, Signal Transduction, Time Factors, Treatment Outcome, Young Adult, Glycine Agents, Psychotropic Drugs, Receptors, N-Methyl-D-Aspartate, Glycine

This paper describes an individual who was diagnosed with obsessive-compulsive disorder (OCD) and body dysmorphic disorder (BDD) at age 17 when education was discontinued. By age 19, he was housebound without social contacts except for parents. Adequate trials of three selective serotonin reuptake inhibitors, two with atypical neuroleptics, were ineffective. Major exacerbations following ear infections involving Group A beta-hemolytic streptococcus at ages 19 and 20 led to intravenous immune globulin therapy, which was also ineffective. At age 22, another severe exacerbation followed antibiotic treatment for H. pylori. This led to a hypothesis that postulates deficient signal transduction by the N-methyl-D-aspartate receptor (NMDAR). Treatment with glycine, an NMDAR coagonist, over 5 years led to robust reduction of OCD/BDD signs and symptoms except for partial relapses during treatment cessation. Education and social life were resumed and evidence suggests improved cognition. Our findings motivate further study of glycine treatment of OCD and BDD.
Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
Authors: Min Zhou, Ningjie Shi, Juan Zheng, Yang Chen, Siqi Wang, Kangli Xiao, Zhenhai Cui, Kangli Qiu, Feng Zhu, Huiqing Li
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: woodhouse–sakati syndrome, alopecia, diabetes, hypogonadism, intellectual disability
MeSH terms: Alopecia / genetics, Arrhythmias, Cardiac / genetics, Basal Ganglia Diseases / genetics, Diabetes Mellitus / genetics, Hypogonadism / genetics, Intellectual Disability / genetics, Nuclear Proteins / genetics, Sequence Deletion, Ubiquitin-Protein Ligase Complexes / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adult, China, Exome Sequencing, Female, Humans, Male, Pedigree, DCAF17 protein, human, Nuclear Proteins, Ubiquitin-Protein Ligase Complexes, Woodhouse Sakati syndrome

Woodhouse-Sakati syndrome (WSS) (OMIM#241080) is a rare multi-system autosomal recessive disease with homozygous mutation of the DCAF17 gene. The main features of WSS include diabetes, hypogonadism, alopecia, deafness, intellectual disability and progressive extrapyramidal syndrome. We identified a WSS family with a novel DCAF17 gene mutation type in China. Two unconsanguineous siblings from the Chinese Han family exhibiting signs and symptoms of Woodhouse-Sakati syndrome were presented for evaluation. Whole-exome sequencing revealed a homozygous deletion NM_025000.4:c.1488_1489delAG in the DCAF17 gene, which resulted in a frameshift mutation that led to stop codon formation. We found that the two patients exhibited low insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. These findings indicate that the DCAF17 gene mutation may cause pancreatic β cell functional impairment and contribute to the development of diabetes.
Neotendon infilling of a full thickness rotator cuff foot print tear following ultrasound guided liquid platelet rich plasma injection and percutaneous tenotomy: favourable outcome up to one year
Authors: Arockia Doss
Journal: F1000Res (2013)

This is a case report on excellent clinical outcome and neotendon infilling at one year follow up in a degenerative rotator cuff full thickness tear following percutaneous tenotomy and platelet rich plasma injection.
Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review
Authors: Caiyun Luo, Liucheng Yang, Zhaorong Huang, Yuqian Su, Yi Lu, Daiyue Yu, Mengzhen Zhang, Kai Wu
Journal: Front Pediatr (2023)
Keywords: clinical characteristics, epidermolysis bullosa, exome sequencing, molecular characteristics, newborns, pyloric atresia
MeSH terms: Case Reports

Objective:
This article aims to explore the diagnosis, molecular characteristics, treatment, and prognosis of epidermolysis bullosa with pyloric atresia (EB-PA).
Methods:
The clinical manifestations, diagnosis and treatment, and genetic characteristics of a patient with EB-PA admitted to our hospital were analysed. The disease subtypes, concomitant abnormalities, molecular characteristics, and prognosis of patients with EB-PA were summarized by searching the EB-PA-related literature since 2011.
Results:
We present a very low birth weight female infant with skin blisters and pyloric obstruction. Exome sequencing revealed heterozygous mutations in the ITGB4 gene: c.794dupC (p. S265fs*5) and c.2962G > A (p.A988T). This infant was diagnosed with EB-PA. Coverage of the wounds and Penicillin were used to prevent infection, but the patient eventually developed severe sepsis. A literature review was carried out including 49 cases of EB-PA; among these cases, 34 were preterm infants, weighing between 930 and 3,640 g. Of these EB-PA patients, 28 had accompanying malformations, including urinary system malformations and aplasia cutis congenita (ACC). Thirty-two patients identified the subtype of EB-PA, of whom 25 were diagnosed with junctional epidermolysis bullosa (JEB), 6 with epidermolysis bullosa simplex (EBS), and 1 with dystrophic epidermolysis bullosa (DEB). Genetic testing was conducted on 23 patients, of whom 15 carried Integrin Beta-4 (ITGB4) gene mutations and one JEB patient carried an Integrin Alpha-6 (ITGA6) gene mutation; 4 of the 5 EBS patients had Plectin (PLEC) gene mutations, and the other had an ITGB4 mutation. ITGB4 mutation cases involved 29 mutation sites, primarily concentrated in the region encoding the integrin beta subunit; PLEC mutation cases involved 7 mutation sites. Among all cases, 43 underwent pyloric atresia surgery, of whom 24 died postoperatively, and 6 without surgery therapy died within a short period.
Conclusion:
EB-PA is a rare genetic disorder characterized by increased skin fragility and PA involving mutations in the ITGB4, PLEC, or ITGA6 genes. EB-PA has a high incidence of complications and mortality, surgery and supportive therapy are currently the most common treatment options.
Magnetic resonance imaging changes in a 69-year old man with hypoglycemia induced brain injury: case report and literature review
Authors: Pranitha Reddy Arrabyru, Ihtesham Aatif Qureshi, Lauren Skalomenos, Gustavo Jose Rodriguez
Journal: Pan Afr Med J (2019)
Keywords: hypoglycemia, icu, mri, focal deficits, glucose, hippocampus, stroke
MeSH terms: Coma / etiology, Hypoglycemia / complications, Magnetic Resonance Imaging / methods, Case Reports, Review, Aged, Brain / diagnostic imaging, Brain / pathology, Coma / diagnostic imaging, Hippocampus / pathology, Humans, Hypoglycemia / diagnostic imaging, Hypoglycemia / therapy, Intensive Care Units, Male, Severity of Illness Index, Stroke / diagnosis

We present the case of a 69-year old man who was brought to the hospital after being found unconscious; last seen at baseline 9 hours prior. On admission he was found to be severely hypoglycemic and received prompt glucose administration, with no immediate neurological improvement. Stroke was suspected. A brain MRI revealed abnormal hyperintense signal involving the head and tail of the left hippocampus. After close neurological monitoring and supportive care in the ICU, his condition improved over time, leaving no residual focal deficits. This case highlights the presence of MRI changes in patients with severe hypoglycemia as it happens in hypoglycemic coma.
Coexistence of Relapsing Polychondritis and Sickle Cell Disease in a Child
Authors: Bernard Ofoe Tetteh, Florence-Barbara Yebuah, Maame-Boatemaa Amissah-Arthur, Dzifa Dey
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Relapsing polychondritis (RP) is a rare, severe connective tissue disease of unknown etiology affecting cartilaginous and proteoglycan-rich structures in an episodic and inflammatory manner. Approximately a third of RP cases occur in conjunction with another disease usually systemic autoimmune rheumatic disease, or myelodysplastic syndrome. Sickle cell disease (SCD) is a common inherited hematologic condition characterized by the inheritance of two abnormal hemoglobins, of which one is a hemoglobin S, presenting with severe acute and chronic complications from vaso-occlusive phenomena, which can be difficult to differentiate from RP. The pathogenesis of RP is poorly understood but suggests an autoimmune mechanism with a link to sickle cell disease yet to be established. Treatment is empiric with steroids, anti-inflammatory, and disease-modifying antirheumatic drugs being the mainstay of therapy. Severe complications occur despite treatment, with respiratory involvement being the most catastrophic. This case report reviews a complex case of RP in an 11-year-old girl with sickle cell disease (SF genotype) presenting with bilateral red painful eyes, a painful swollen left ear, and knee pain. Laboratory findings revealed elevated inflammatory markers with negative immune serology. A diagnosis of RP was made based on the patient's symptomatology, presentation, and fulfillment of 5 out of the 6 clinical features using McAdam's criteria. Management was instituted with a myriad of conventional and biologic DMARDs and other anti-inflammatory medications with no significant improvement and the development of complications of airway obstruction from disease activity and osteoporotic fracture from steroid therapy and underlying hemoglobinopathy. In children, the diagnosis of RP is delayed or overlooked due to its low incidence, variability in clinical symptoms, or sharing similar clinical features with other coexisting disease entities. This article reports its occurrence in the pediatric population and highlights the difficulty in managing such cases as there are no defined standard treatment protocols.
A PD-L1 Negative Advanced Gastric Cancer Patient With a Long Response to PD-1 Blockade After Failure of Systematic Treatment: A Case Report
Authors: Fangyuan Zhang, Jieying Zhang, Lei Zhao, Menglan Zhai, Tao Zhang, Dandan Yu
Journal: Front Immunol (2021)
Keywords: mss, pd-l1, advanced gastric cancer, immunotherapy, lymph node metastasis, pmmr
MeSH terms: B7-H1 Antigen / immunology, Stomach Neoplasms / immunology, Case Reports, Research Support, Non-U.S. Gov't, Adult, B7-H1 Antigen / antagonists & inhibitors, Humans, Immune Checkpoint Inhibitors / therapeutic use, Male, Stomach Neoplasms / diagnosis, Stomach Neoplasms / drug therapy, B7-H1 Antigen, CD274 protein, human, Immune Checkpoint Inhibitors

Background:
It was widely accepted that programmed death-ligand 1 (PD-L1) positive, tumor mutational burden-high (TMB-H) or microsatellite instability-high (MSI-H) tumor are prone to have better treatment response to immune checkpoint blockade. The value of immune checkpoint blockade in PD-L1 negative gastric cancer patients has been questioned due to lower objective response rate (ORR).
Case presentation:
We report an unusual case of a PD-L1 negative, proficient mismatch repair (pMMR)/microsatellite stability (MSS), tumor mutational burden-low (TMB-L) gastric cancer patient who achieved good response to immune checkpoint blockade after failure of systematic treatment. Multiple lymph nodes and bone metastases are the main characteristics of this patient. The patient survived for more than 30 months after diagnosis.
Conclusions:
This case suggested that PD-L1 negative gastric cancer patient may also benefit from immune checkpoint blockade. In gastric cancer, patients with lymph node metastasis may be potential beneficiaries.
Fatal Septicaemia Following Suprapubic Cystostomy in a Paraplegic Patient: Never Do a Cystostomy without Prior Urine Culture and Appropriate Antibiogram!
Authors: Subramanian Vaidyanathan, Bakul M Soni, Tun Oo, Peter L Hughes, Gurpreet Singh
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Neuropathic urinary bladder is often colonised by multidrug-resistant bacteria. We report a 64-year-old male spinal cord injury patient with paraplegia, who received gentamicin on empirical basis before undergoing suprapubic cystostomy, as antibiotic sensitivity report of urine was not available. This patient developed fulminate septicaemia. Although appropriate antibiotic therapy (meropenem) was started when this patient manifested features of sepsis, acute renal failure occurred and he expired. Inappropriate initial antimicrobial therapy was the major contributory factor for this patient's mortality. Learning points from this case are (1) never do a cystostomy without prior urine culture and appropriate antibiogram; (2) in a chronic spinal cord injury patient, full blood count, liver function tests, albumin level, and albumin to globulin ratio should be performed before any surgical procedure.
Does pseudohypoaldosteronism mask the diagnosis of congenital adrenal hyperplasia?
Authors: Sebahat Yılmaz Ağladıoğlu, Zehra Aycan, Havva Nur Peltek Kendirci, Nilgün Erkek, Veysel Nijat Baş
Journal: J Clin Res Pediatr Endocrinol (2011)
MeSH terms: Adrenal Hyperplasia, Congenital / diagnosis, Pseudohypoaldosteronism / diagnosis, Case Reports, Adrenal Hyperplasia, Congenital / drug therapy, Adrenal Hyperplasia, Congenital / genetics, Adrenocorticotropic Hormone, Diagnosis, Differential, Fludrocortisone / therapeutic use, Humans, Hyponatremia / etiology, Infant, Male, Pseudohypoaldosteronism / genetics, Adrenocorticotropic Hormone, Fludrocortisone

Hyponatremia and hyperpotassemia occurring in the first few weeks of life primarily indicate aldosterone deficiency due to salt-losing congenital adrenal hyperplasia (SL-CAH), while mineralocorticoid deficiency and insensitivity are the main causes of hyponatremia and hyperpotassemia in older infants. Some patients who present with vomiting and poor sucking, who have hyponatremia and hyperpotassemia and are initially diagnosed as CAH, during follow-up, are found to suffer from pseudohypoaldosteronism (PHA). This situation has been reported several times before. The cases described here represent the opposite situation: they presented with hyponatremia and hyperpotassemia, thus PHA was considered as aldosterone levels were very high, but subsequent investigation and genetic analysis led to the diagnosis of SL-CAH.
Robot-Assisted Excision of a Urachal Cyst Causing Dyspareunia and Dysorgasmia: Report of a Case
Authors: Patrick S Kilday, David S Finley
Journal: J Endourol Case Rep (2016)
MeSH terms: Case Reports

Background:
Urachal remnants are a group of rare anatomical anomalies that include cysts, diverticula, and tumors. We present a case of a young female patient with dyspareunia and dysorgasmia related to a urachal cyst.
Case:
A patient with unique presentation of urachal cyst treated robotically. Patient had complete resolution of symptoms postoperatively.
Conclusion:
Robot-assisted excision of the urachal remnant provided durable symptom relief.