OpenMed/multicare-articles huggingface dataset:
A 69-year-old female with tiredness and a persistent tan
Authors: Petros Perros
Journal: PLoS Med (2005)
MeSH terms: Addison Disease / diagnosis, Fatigue / etiology, Hyperpigmentation / etiology, Hyponatremia / etiology, Lung Neoplasms / diagnosis, Case Reports, Addison Disease / complications, Aged, Diagnosis, Differential, Female, Humans, Lung Neoplasms / complications

In this case-based learning article, Perros discusses the work- up a woman who presented with palpitations, tiredness, shortness of breath, and a persistent tan.
Relatively Long Survival in Hepatocellular Carcinoma Presenting With Carcinoid Syndrome
Authors: Sylvester Chuks Nwokediuko, Ijoma Uchenna, Ofoegbu Esther, Okafor Okechukwu, Onuh Augustine, Ajuyah Charity
Journal: Gastroenterology Res (2010)
Keywords: carcinoid syndrome, hepatocelluar carcinoma, paraneoplastic syndrome, survival
MeSH terms: Case Reports

Hepatocelluar carcinoma is one of the commonest cancers in Nigeria. Some patients may manifest a variety of paraneoplastic syndromes. Carcinoid syndrome is an extremely rare presentation of hepatocellular carcinoma. A 57-year old man presented with recurrent facial flushing and diarrhea, tricuspid regurgitation, and very high level of urinary hydroxyindoleacetic acid (HIAA) as the first manifestation of a multicentric hepatic lesion which proved histologically to be hepatocellular carcinoma. The lesions also exhibited arterial hypervascularization on contrast enhanced computerized tomography. The patient is still alive after 6 years of symptoms.
Successful Expulsion of a Golf Ball from the Sigmoid Colon Using Volume Laxatives
Authors: James P Grantham, Amanda Hii, Tim Bright, David Liu
Journal: Case Rep Surg (2023)
MeSH terms: Case Reports

Background:
Rectal foreign bodies form a surprisingly frequent cause of presentation to the emergency department. The materials inserted constitute a wide range of size, shape, and texture with each presenting a unique set of challenges. Despite a seemingly innocuous presentation, if not recognised early and managed accordingly, significant complications can develop including obstruction, perforation, and sphincteric injury. The existing doctrines advocate endoscopic intervention after simple measures fail and advise against the use of laxative therapy due to concerns for complications that may arise. The authors of this study challenge this notion, provided certain conditions are met. Case Presentation. We report the case of a 14-year-old boy who inserted a golf ball into his rectum, which subsequently migrated proximally into the sigmoid colon on plain radiographic films. The patient was asymptomatic on presentation, and there was no clinical evidence of bowel injury or mechanical bowel obstruction. Endoscopic removal of the golf ball was pursued under general anaesthesia. Despite protracted efforts, the golf ball was not able to be retrieved endoscopically. In an attempt to avoid aggressive surgery, volume laxatives were administered with successful passage of the golf ball several hours later.
Conclusions:
This case discusses the unique technical challenges, which may be encountered when attempting to retrieve a large, spherical, and non-confirming foreign body entrapped above the rectosigmoid junction and how these factors can complicate endoscopic retrieval. The authors advocate that in the absence of a mechanical bowel obstruction, patients with foreign bodies possessing physical properties that are amenable to spontaneous passage, a trial of strong aperients, should be considered first line. The author's contention is that direct escalation to removal of foreign body in theatre can be resource draining and may expose the patient to additional risk.
Evidence of Direct Toxicological Effects of Scorpion Venom on Central Nervous System in Tunisian Children
Authors: Mabrouk Bahloul, Basma Souissi, Olfa Turki, Mariem Dlela, Khaireddine Ben Mahfoudh, Mounir Bouaziz
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Background:
Severe scorpion envenomation can lead to severe neurological manifestations, which are an indicator of the severity of the scorpion sting. The direct action of scorpion venom on the central nervous system can explain partly these neurological disorders.
Methods and findings:
We report a case of severe scorpion envenomation in 16-month-old boy with no pathological history admitted in ICU for severe scorpion envenomation. The result of cerebral MRI agrees with the hypothesis of direct action of scorpion venom on the central nervous system. Patient had improved; however, he has kept as neurological sequelae language disorders and blindness. The boy was discharged 21 days after ICU admission.
Conclusion:
Our observation confirms that severe scorpion envenomation can be complicated by severe neurological manifestations. Although one case report is not enough to conclude such important hypothesis regarding the direct effect of scorpion venom on central nervous system (especially that the age of patient is more than one year), our case agrees with this hypothesis.
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Authors: Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E Lin, Ralph S Lachman, Gen Nishimura, Giedre Grigelioniene
Journal: Front Genet (2023)
Keywords: axenfeld-rieger syndrome, de hauwere syndrome, foxc1, case report, genome sequencing, skeletal anomalies
MeSH terms: Case Reports

FOXC1 is a ubiquitously expressed forkhead transcription factor that plays a critical role during early development. Germline pathogenic variants in FOXC1 are associated with anterior segment dysgenesis and Axenfeld-Rieger syndrome (ARS, #602482), an autosomal dominant condition with ophthalmologic anterior segment abnormalities, high risk for glaucoma and extraocular findings including distinctive facial features, as well as dental, skeletal, audiologic, and cardiac anomalies. De Hauwere syndrome is an ultrarare condition previously associated with 6p microdeletions and characterized by anterior segment dysgenesis, joint instability, short stature, hydrocephalus, and skeletal abnormalities. Here, we report clinical findings of two unrelated adult females with FOXC1 haploinsufficiency who have ARS and skeletal abnormalities. Final molecular diagnoses of both patients were achieved using genome sequencing. Patient 1 had a complex rearrangement involving a 4.9 kB deletion including FOXC1 coding region (Hg19; chr6:1,609,721-1,614,709), as well as a 7 MB inversion (Hg19; chr6:1,614,710-8,676,899) and a second deletion of 7.1 kb (Hg19; chr6:8,676,900-8,684,071). Patient 2 had a heterozygous single nucleotide deletion, resulting in a frameshift and a premature stop codon in FOXC1 (NM_001453.3): c.467del, p.(Pro156Argfs*25). Both individuals had moderate short stature, skeletal abnormalities, anterior segment dysgenesis, glaucoma, joint laxity, pes planovalgus, dental anomalies, hydrocephalus, distinctive facial features, and normal intelligence. Skeletal surveys revealed dolichospondyly, epiphyseal hypoplasia of femoral and humeral heads, dolichocephaly with frontal bossin gand gracile long bones. We conclude that haploinsufficiency of FOXC1 causes ARS and a broad spectrum of symptoms with variable expressivity that at its most severe end also includes a phenotype overlapping with De Hauwere syndrome.
6q24 Transient Neonatal Diabetes - How to Manage while Waiting for Genetic Results
Authors: Julie Fudvoye, Khaldoun Farhat, Virginie De Halleux, Corina Ramona Nicolescu
Journal: Front Pediatr (2016)
Keywords: chromosome 6q24, intrauterine growth restriction, transient neonatal diabetes
MeSH terms: Case Reports

Diabetes, rare in the neonatal period, should be evoked in every newborn presenting with unexplained intrauterine and early postnatal growth retardation. This case report illustrates the clinical course and therapeutic approach of a newborn diagnosed with transient diabetes. The baby was born at 37 weeks of gestation with a severe intrauterine growth restriction. Except a mild macroglossia and signs of growth restriction, physical examination was normal. On the fifth day of life, hyperglycemia (180 mg/dl) was noted, and the next day, the diagnosis of diabetes was confirmed (high blood sugar, glucosuria, undetectable levels of insulin and C-peptide). Insulin infusion, initially intravenously and then subcutaneously, was started, tailored to assure the growth catch-up and normalize the blood sugar levels. At the age of 4 weeks, the baby returned at home under pump. At 8 weeks, the clinical impression of evolution to a transient diabetes (decreasing needs of insulin with very satisfactory weight gain) was genetically confirmed (paternal uniparental disomy of chromosome 6). There is no screening for neonatal diabetes, but the clinical suspicion avoids the metabolic decompensation and allows early initiation of insulin therapy. The genetic approach (for disease itself and its associated features) relies on timely clinical updates.
Osteochondritis Lesions of the Ischiopubic Area in Young Adolescents
Authors: Nikolaos Laliotis, Chrysanthos Chrysanthou, Panagiotis Konstandinidis, Lambrini Giannakopoulou, Anestis Moumtzouoglou
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Osteochondritis of the ischiopubic area is a rare disease of children that presents with hip pain and limping. Careful examination and appropriate investigations are essential to establish a definite diagnosis. We report a case series of four children, ages 10-14-year-old, with osteochondritis of the ischiopubic area. Plain X-ray examination showed an area of diffuse irregular calcification of the ischium in two of the children, while in the other two there was an asymmetrical enlargement of the ischiopubic synchondrosis. MRI investigation was the most helpful examination. Bone edema was found in all four children. A calcified mass separated from the host ischium was found in the first two children. The cortex was normal, without irregular destruction. Bone edema of both the ischium and pubic alongside the synchondrosis was found in the following two children, with intact cortices and asymmetrical enlargement. Osteochondritis lesions of the ischium and the ischiopubic area have radiological findings similar to several severe diseases. Bone edema on MRI investigation in children must be properly evaluated. Appropriate radiological examination enabled us to confirm the diagnosis of the osteochondritis and to avoid unnecessary procedures. We want to draw attention to the rare diagnosis of osteochondritis of the ischiopubic area, and the clinical significance, as a cause of hip pain and limping in children.
Primary Multifocal Recurrent Urinary Bladder Amyloidosis: A Rare Case Report from Syria
Authors: Leen Jamel Doya, Lama Doya, Khaled Al-Yousef, Ali Adib, Abedallah Al Shamali, Basel Al Deeb, Mohamad Kanan
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Primary urinary bladder amyloidosis is a rare disorder of protein metabolism characterized by the extracellular deposition of fibrillin. To date, fewer than 200 cases have been reported in the literature. We herein present a case of 59-year-old female with primary multifocal recurrent urinary bladder amyloidosis. The patient was treated with a new method (laser therapy) mentioned for the first time in the literature. After 18 months of treatment, the patient has no complaints. Our case illustrates a new procedure in the treatment of primary multifocal bladder amyloidosis.
Central Nervous System Hemangioblastoma in a Pediatric Patient Associated With Von Hippel-Lindau Disease: A Case Report and Literature Review
Authors: Bo Yang, Zhenyu Li, Yubo Wang, Chaoling Zhang, Zhen Zhang, Xianfeng Zhang
Journal: Front Oncol (2021)
Keywords: von hippel-lindau disease (vhl disease), central nervous system, hemangioblastoma, literature review, pediatric neurosurgery
MeSH terms: Review

Background:
Hemangioblastoma is a benign tumor of the central nervous system and may appear as a component of von Hippel-Lindau (VHL) disease. At present, approximately 40 cases of optic nerve HGBs have been reported in the literature. VHL disease is a rare autosomal-dominant inherited cancer syndrome with different phenotypes caused by variants in the VHL gene. Herein, the authors describe a case of a pediatric patient with VHL disease and with optic nerve HGB, a rare phenotypic expression. The purpose of this study was to explore the genotype-phenotype, clinical features, treatment and follow-up of VHL-associated hemangioblastomas in pediatric patients.
Case description:
A 12-year-old boy presented with vision loss, headache and dizziness at our hospital. Magnetic resonance imaging (MRI) revealed a large (19.8 mm*18.5 mm*23.5 mm) irregular mass located in the suprasellar region. The mass was successfully removed after craniotomy and microsurgical treatment. The pathological diagnosis was left optic nerve HGB. Genetic analyses showed p.Pro86Leu (c. 257C>T) heterozygous missense mutations in the VHL gene.
Conclusion:
This is the first reported pediatric case of VHL-associated optic nerve HGB. The genotype-phenotype correlation of VHL disease may provide new evidences for predicting tumor penetrance and survival. Gross tumor resection combined with stereotactic radiosurgery might be the most beneficial treatment.
The case report of MOG and NMDAR IgG double positive encephalitis treated with subcutaneous ofatumumab
Authors: Rui Zhang, Li Wang, Yongli Tao, Xiaofeng Zhang, Kai Liu, Bo Song, Yuming Xu
Journal: Front Immunol (2023)
Keywords: n-methyl-d-aspartate receptor, autoimmune encephalitis, isolated seizures, myelin oligodendrocyte glycoprotein, ofatumumab, overlap syndrome
MeSH terms: COVID-19, Encephalitis, Case Reports, Antibodies, Monoclonal, Humanized / therapeutic use, Humans, Male, Receptors, N-Methyl-D-Aspartate, ofatumumab, Receptors, N-Methyl-D-Aspartate, Antibodies, Monoclonal, Humanized

The phenotypic spectrum of myelin oligodendrocyte glycoprotein (MOG)- IgG-associated disorders (MOGAD) has broadened in the past few years, and atypical phenotypes are increasingly recognized. Isolated seizures and MRI-negative brainstem and cerebellar symptoms or encephalitis have rarely been reported as a feature of MOGAD and represent a diagnostic challenge. Meanwhile, the coexistence of MOG IgG and other CNS autoimmune antibodies is infrequent. We report a patient presented with isolated epileptic onset, relapsed with MRI-negative brainstem symptoms and MRI-negative encephalitis. He was positive for MOG IgG throughout the disease course while concomitant NMDAR IgG was not detected positive until second relapse. He showed decreasing response to conventional first-line therapy. The last relapse was during a COVID-19 epidemic with limited inpatient resources. Fortunately, he was ultimately controlled on subcutaneous ofatumumab, a novel fully humanized anti-CD20 mAb. This is the first report about subcutaneous ofatumumab treatment in MOG and NMDAR IgG double positive encephalitis with 12-month follow-up, depicting its potential as a therapeutic option.
Cluster-Like Headache Secondary to Sphenoid Sinus Mucocele
Authors: Mariana Branco, Rita Rodrigues, Marta Lopes, Luís Ruano
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

Background:
The great majority of cases of cluster headache (CH) are primary, but there are several reported cases of CH secondary to underlying structural lesions. The identification of these lesions is crucial for the achievement of an effective treatment and favorable outcome, although the determination of a cause-effect relationship between the two entities may be challenging.
Case report:
We present the first case of CH secondary to sphenoid sinus mucocele.
Discussion:
This case reinforces the need to perform neuroimaging studies in CH patients in order to identify lesions that can constitute its cause, especially if atypical features are present. Activation of the trigeminovascular system due to direct contact between the lesion and the trigeminal nerve or by local edema and inflammation possibly plays a role in the pathophysiology of this CH secondary to sphenoid sinus mucocele.
Misdiagnosed myocarditis in arrhythmogenic cardiomyopathy induced by a homozygous variant of DSG2: a case report
Authors: Xuwei Liu, Yue Zhang, Wenjuan Li, Qian Zhang, Letao Zhou, Yimin Hua, Hongyu Duan, Yifei Li
Journal: Front Cardiovasc Med (2023)
Keywords: acm, dsg2, case report, genetic sequencing, myocarditis
MeSH terms: Case Reports

Background:
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy that is rarely diagnosed in infants or young children. However, some significant homozygous or compound heterozygous variants contribute to more severe clinical manifestations. In addition, inflammation of the myocardium and ventricular arrhythmia might lead to misdiagnosis with myocarditis. Here, we describe an 8-year-old patient who had been misdiagnosed with myocarditis. Timely genetic sequencing helped to identify this case as ACM induced by a homozygous variant of DSG2.
Case presentation:
The proband of this case was an 8-year-old boy who initially presented with chest pain with an increased level of cardiac Troponin I. In addition, the electrocardiogram revealed multiple premature ventricular beats. Cardiac magnetic resonance revealed myocardial edema in the lateral ventricular wall and apex, indicating localized injuries of the myocardium. The patient was primarily suspected to have acute coronary syndrome or viral myocarditis. Whole-exome sequencing confirmed that the proband had a homozygous variation, c.1592T > G, of the DSG2 gene. This mutation site was regulated by DNA modification, which induced amino acid sequence changes, protein structure effects, and splice site changes. According to MutationTaster and PolyPhen-2 analyses, the variant was considered a disease-causing mutation. Next, we used SWISS-MODEL to illustrate the mutation site of p.F531C. The ensemble variance of p.F531C indicated the free energy changes after the amino acid change.
Conclusion:
In summary, we reported a rare pediatric case initially presenting as myocarditis that transitioned into ACM during follow-up. A homozygous genetic variant of DSG2 was inherited in the proband. This study expanded the clinical feature spectrum of DSG2-associated ACM at an early age. Additionally, the presentation of this case emphasized the difference between homozygous and heterozygous variants of desmosomal genes in disease progression. Genetic sequencing screening could be helpful in distinguishing unexplained myocarditis in children.
Anti-IL-17A antibody-associated de novo vitiligo: Case report and review of literature
Authors: Hsing-Jou Su, Yu-Pei Chan, Peng-Chieh Shen, Cheng-Lung Ku, Chau Yee Ng
Journal: Front Immunol (2023)
Keywords: anti-il17a-antibody, anti-il17 agents, de novo, paradoxical reaction, psoriasis, vitiligo
MeSH terms: Arthritis, Psoriatic / therapy, Psoriasis / drug therapy, Vitiligo / chemically induced, Vitiligo / drug therapy, Review, Case Reports, Research Support, Non-U.S. Gov't, Biological Factors, Female, Humans, Phototherapy, Biological Factors

Interleukin (IL)-17 inhibitor is a biological therapy approved for moderate to severe psoriasis and psoriatic arthritis. The common adverse events of IL-17 inhibitor include injection site reaction, infections, nasopharyngitis, and headache. However, vitiligo associated with the use of IL-17 inhibitors was rarely reported in the previous literature. Here we described a woman who developed de novo vitiligo after 4 months of IL-17A inhibitor treatment for psoriasis and psoriatic arthritis. Upon discontinuation of IL-17A inhibitor and shifting to a broader T cell inhibitor-cyclosporine, our patient had control of both psoriasis and vitiligo and achieved 75% repigmentation after 3 months of oral cyclosporine without phototherapy. Due to the increasing use of anti-IL-17 biologics in psoriasis patients, clinicians should inquire about vitiligo's history before treatment and inform patients of the possible adverse effects.
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia
Authors: Michiko Takimoto-Sato, Toshinari Miyauchi, Masaru Suzuki, Hideyuki Ujiie, Toshifumi Nomura, Tomoo Ikari, Tomohiko Nakamura, Kei Takahashi, Machiko Matsumoto-Sasaki, Hirokazu Kimura, Hiroki Kimura, Yuichiro Matsui, Takashi Kitagataya, Ren Yamada, Kazuharu Suzuki, Akihisa Nakamura, Masato Nakai, Takuya Sho, Koji Ogawa, Naoya Sakamoto, Naoko Yamaguchi, Noriyuki Otsuka, Utano Tomaru, Satoshi Konno
Journal: Front Genet (2022)
Keywords: fam111b, poiktmp, case report, interstitial pneumonia, liver cirrhosis
MeSH terms: Case Reports

Background: Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is an extremely rare disease caused by mutations in FAM111B, and only approximately 30 cases have been reported worldwide. Some patients develop interstitial pneumonia, which may lead to progressive pulmonary fibrosis and poor prognosis. However, no effective treatment for interstitial pneumonia associated with POIKTMP has been reported. Here, we report an autopsy case of POIKTMP, wherein interstitial pneumonia was improved by corticosteroids. Case Presentation: A 44-year-old Japanese man was referred to our hospital due to poikiloderma, hypotrichosis, and interstitial pneumonia. He developed progressive poikiloderma and muscle weakness since infancy. He also had tendon contractures, short stature, liver cirrhosis, and interstitial pneumonia. Mutation analysis of FAM111B revealed a novel and de novo heterozygous missense mutation, c.1886T > G (p(Phe629Cys)), through which we were able to diagnose the patient with POIKTMP. 3 years after the POIKTMP diagnosis, interstitial pneumonia had worsened. After 2 weeks of administrating 40 mg/day of prednisolone, his symptoms and lung shadows improved. However, he subsequently developed severe hepatic encephalopathy and eventually died of respiratory failure due to bacterial pneumonia and pulmonary edema. Autopsy revealed an unclassifiable pattern of interstitial pneumonia, as well as the presence of fibrosis and fatty degeneration in several organs, including the liver, kidney, skeletal muscle, heart, pancreas, and thyroid. Conclusions: We report a case of POIKTMP in which interstitial pneumonia was improved by corticosteroids, suggesting that corticosteroids could be an option for the treatment of interstitial pneumonia associated with this disease.
Bosworth Dislocation without Associated Fracture
Authors: Austin D Williams, Matthew Blue, Christian Douthit, Cyrus Caroom
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

One of the rarest ankle injuries is the Bosworth fracture-dislocation, whereby the distal fibula fractures and is lodged behind the tibia and is often unable to be reduced in a closed fashion. Even more rarely, a Bosworth dislocation without any accompanying fractures may occur. In this case, a 19-year-old male presented with a Bosworth dislocation, with the ipsilateral tibia having previously undergone intramedullary nailing. After closed reduction was attempted, open reduction and fixation was performed, directly reducing the fibula and fixing the unstable syndesmosis with 2 quadricortical screws. Bosworth injuries are rare, yet severe, and should be treated in a timely manner. We were able to provide good reduction and fixation without requiring removal of the intramedullary nail, and we support the use of 2 quadricortical screws as a valid treatment option for the fixation of Bosworth dislocations.