OpenMed/multicare-articles huggingface dataset:
Case report: Dupilumab treatment improved type 2 disorders in a patient with IPEX syndrome diagnosis
Authors: C Caruso, L Laterza, C R Settanni, S Colantuono, C Di Mario, B Tolusso, F Castrì, E Gremese, F Scaldaferri, A Armuzzi, C De Simone, K Peris, A Chiricozzi, A Gasbarrini
Journal: Front Immunol (2023)
Keywords: ipex (immune dysregulation, x-linked), atopic dermatis, biomarker, cytokines, dupilumab, polyendocrinopathy, type2
MeSH terms: Dermatitis, Atopic, Diabetes Mellitus, Type 2, Eczema / complications, Eczema / diagnosis, Eczema / drug therapy, Case Reports, Humans, Male, Quality of Life, Young Adult, dupilumab, Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

We described a case of IPEX syndrome successfully controlled with dupilumab, an anti-IL4 receptor alpha subunit inhibitor. IPEX syndrome is a rare and generally fatal genetic disorder characterized by immune dysregulation, polyendocrinopathy and enteropathy, mostly diagnosed in early childhood. Nonetheless, cases reported in the last 20 years demonstrated that IPEX clinical spectrum encompasses more than the classical triad of early-onset intractable diarrhea, type 1 diabetes and eczema. Atypical cases of IPEX include patients with late-onset of symptoms, single-organ involvement, mild disease phenotypes or rare clinical features. A 21-year-old caucasian man presented with immune dysregulation (hypereosinophilia and elevated IgE), protein-losing enteropathy, polyendocrinopathy (thyroiditis, osteoporosis, delayed puberty), weight loss, eczema manifestations and celiac disease. IPEX syndrome was diagnosed because of the presence of a hemizygous mutation in FOXP3 gene (c.543C>T (p.S181S) in the exon 5). During the course of the disease, the patient developed erosive proctitis, pyoderma gangrenosum, and erythema nodosum. Symptoms improved only after enteral and parenteral corticosteroid therapy and the patient soon developed steroid-dependence. Notwithstanding various therapies including azathioprine, sirolimus, tacrolimus, adalimumab, vedolizumab, the patient failed to achieve a good control of symptoms without steroids. Almost exclusive enteral nutrition with a hypoallergenic, milk-protein free, amino acid-based food for special medical purposes. He continued to lose weight (BMI 14.5 kg/m2) with a consequent high limitation of physical activity and a progressive worsening of the quality of life. In consideration of the poor response to conventional immunosuppressants and the presence of type 2 inflammatory manifestations, treatment with dupilumab at an initial dose of 600 mg, followed by a maintenance dose of 300 mg every other week, according to atopic dermatitis labeled dose, was started and combined to oral budesonide 6 mg/day and 6-mercaptopurine 75 mg/day. The patient experienced a rapid improvement in bowel and skin symptoms, leading to a progressive tapering of steroids. By our knowledge, this is the first report of IPEX syndrome successfully treated by antiIL-4/IL-13 therapy. In this case dupilumab demonstrated to be an effective, safe and steroid-sparing option.
A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature
Authors: E Moussaly, J P Atallah
Journal: Case Rep Oncol Med (2015)

Malignant rhabdoid tumors were originally described in children. Subsequently, the same histological pattern was described in adults. Malignant rhabdoid tumors are aggressive neoplasms that have been reported in multiple organs. To our best knowledge, only 16 previous cases of rhabdoid tumor in the colon have been described in the literature. We present the case of an 87-year-old lady who was diagnosed with a rhabdoid tumor of the colon that relapsed rapidly after surgical resection. The literature concerning this unusual neoplasm was subsequently reviewed with comparison of all known cases in the literature.
Concomitant Vitamin B1 and Vitamin B12 Deficiency Mimicking Thrombotic Thrombocytopenic Purpura
Authors: Venu M Ganipisetti, Pratyusha Bollimunta, Nyi Nyi Tun, Ashok Kanugula, Vishwanath Anil, Anand Athavale, Babu Sriram Maringanti
Journal: Cureus (2023)
Keywords: hemolytic anaemia, microangiopathic haemolytic anemia, mimic disease, neuro-psychiatric, pseudo-ttp, thrombotic thrombocytopenic purpura (ttp)-like syndrome, vitamin b1 deficiency, vitamin b12 deficiency anemia, vitamin b12 deficiency symptoms, wernicke encephalopathy
MeSH terms: Case Reports

Vitamin B12 deficiency-induced pseudo-thrombotic thrombocytopenic purpura (pseudo-TTP) is a rare condition. In reported literature, most cases were due to pernicious anemia (confirmed by the presence of anti-parietal cells or anti-intrinsic factor antibodies). Nutritional vitamin B12 deficiency causing pseudo-TTP is a much rarer entity. Differentiating thrombotic thrombocytopenic purpura (TTP) cases from pseudo-TTP (from any cause) should be done as soon as possible since the etiology, treatment, and outcome are different. Hematological findings from pseudo-TTP (when associated with vitamin B12 deficiency) respond to B12 replacement but do not respond to plasmapheresis. Neurological symptoms are one of the criteria for TTP, and altered mentation or psychosis in these cases is presumed secondary to either TTP or vitamin B12 deficiency. However, neurological symptoms are more characteristic of TTP rather than pseudo-TTP. In the rarer subsets of patients concerned with nutritional deficiency and neuropsychiatric symptoms, prompt consideration of concomitant vitamin B1 deficiency and Wernicke encephalopathy is essential. Immediate empiric treatment with high-dose IV thiamine should be started. If unrecognized and left untreated, thiamine deficiency can cause rapid progression to irreversible neurological symptoms, coma, and death, despite hematological improvement with B12 replacement. We report a rare case of concomitant vitamin B12 and vitamin B1 deficiency presenting with confusion, severe hemolytic anemia, acute renal failure, diarrhea, and thrombocytopenia mimicking TTP.
Use of Osteofasciocutaneous Fibular Free Flap and Radial Head Arthroplasty in Trauma for Limb Salvage and Continued Elbow Function
Authors: Catherine Kilmartin, Katharine D Harper, Chirag Mehta, Joseph Thoder, Andrew Newman
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Reconstructive flaps have revolutionized the ability of surgeons to restore function and cosmesis for patients. While reconstructive flaps have been used to bridge large defects due to oncologic or congenital maladies necessitating large debridements, few cases have observed salvage flaps in traumas which provide additional challenges secondary to an injury trajectory. This case report details use of an osteofasciocutaneous fibular free flap and radial head prosthesis to restore forearm function in a 64-year-old female with a comminuted fracture of the proximal radius. The patient has sustained a 5.5 cm epiphyseal radial defect with an associated 20 × 15 cm overlying tissue defect after serial debridement. In review of the literature, only one nontraumatic case using a combined free flap and radial head prosthesis for proximal forearm defect to restore joint function has been reported. We suggest that, for proximal forearm fractures, this technique can be used to restore elbow joint function in limb salvage.
Campylobacteremia in stage IV gliosarcoma with bevacizumab treatment
Authors: Ping Liu
Journal: J Community Hosp Intern Med Perspect (2012)
Keywords: bevacizumab, campylobacter bacteremia, gliosarcoma, immunocompromise
MeSH terms: Case Reports

Primary campylobacter enteritis with secondary bacteremia was diagnosed in an immunocompromised patient with stage IV gliosarcoma. She developed mild diarrhea followed by systemic symptoms with transient generalized weakness and fever. She was treated with azithromycin and had a full recovery and without relapse through 2 months of follow-up. Her diagnosis was confirmed by a positive stool culture for Campylobacter sp. and blood culture for Campylobacter jejuni/coli.
Electronic Nicotine Delivery Systems and Serum Folate: A Case Study
Authors: Julie M Croff, Ashleigh L Chiaf, Micah L Hartwell, Erica K Crockett, Chibing Tan, Kent Teague
Journal: Tob Use Insights (2019)
Keywords: ends, electronic cigarettes, folate, folic acid
MeSH terms: Case Reports

Introduction:
In 2018, the US Surgeon General declared youth electronic nicotine delivery systems (ENDS) use as an epidemic. Combustible cigarettes have been shown to adversely affect folate status; however, no study to date has explored how ENDS impact folate status.
Methods:
In this case study, a white 18-year-old woman was followed for a 1-month period as part of a larger study. During her participation in the study, a self-report of dietary folate consumption and use of alcohol, tobacco, and other drugs (ATOD) was collected. Each week, dried blood spots were collected to assess red blood cell (RBC) and serum folate.
Results:
During the first 2 weeks of the study, she used ENDS and her serum folate values were depleted in the ranges of 1.91 to 4.39 µg/L. During the third week, when no ENDS were used, her serum folate value was measured at 29.44 µg/L. When ENDS use resumed during the fourth week, her serum folate value fell to 7.50 µg/L.
Conclusions:
This relationship suggests the need for additional studies on ENDS use and serum folate status, particularly among adolescent women who already have the lowest folate status nationally.
An Unusual Case of Metastatic Follicular Thyroid Cancer 40 Years after Initial Diagnosis
Authors: Lakshmi Pakath Menon, Spyridoula Maraka
Journal: Case Rep Endocrinol (2018)
MeSH terms: Case Reports

Thyroid cancer recurrence can occur decades after initial diagnosis despite excellent response to therapy. Thyroid cancer recurrence is evaluated using serum thyroglobulin (Tg) and imaging studies including I-131 WBS and neck ultrasound. Limitations in Tg measurement and WBS may result in failure to detect recurrence. We report the case of a 63-year-old man who was noted to have rhonchi during a routine visit. He had a past history of follicular thyroid cancer that was diagnosed 40 years ago and treated with total thyroidectomy and radioactive iodine. He had excellent response to therapy with undetectable Tg levels, normal neck ultrasounds, and multiple negative whole body scans (WBS) due to which he was discharged from endocrinology clinic after 37 years of follow-up. Chest X-ray revealed a left lung mass with biopsy positive for thyroid cancer. Tg remained undetectable with negative anti-Tg antibody. Left pneumonectomy was done which revealed a mix of 70% differentiated thyroid cancer and 30% poorly differentiated/anaplastic thyroid cancer. He received two cycles of Doxorubicin and Paclitaxel. At 4 months follow-up after surgery, he had 3 subcentimeter nodules in his right lung. This case highlights that physical exam remains an essential tool to evaluate for recurrence. Since the lungs are the most common site of metastasis in follicular thyroid cancer, a chest X-ray may help detect metastasis that is missed on other modalities.
Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients
Authors: Jes Sloth Mathiesen, Søren Grønlund Nielsen, Åse Krogh Rasmussen, Katalin Kiss, Karin Wadt, Anne Pernille Hermann, Morten Frost Nielsen, Stine Rosenkilde Larsen, Klaus Brusgaard, Anja Lisbeth Frederiksen, Christian Godballe, Maria Rossing
Journal: Front Endocrinol (Lausanne) (2020)
Keywords: flt3 r387q, l790f, rearranged during transfection, gene variants, medullary thyroid carcinoma, multiple endocrine neoplasia type 2, variability
MeSH terms: Carcinoma, Neuroendocrine / pathology, Germ-Line Mutation, Proto-Oncogene Proteins c-ret / genetics, Thyroid Neoplasms / pathology, Case Reports, Comparative Study, Research Support, Non-U.S. Gov't, Adolescent, Aged, Carcinoma, Neuroendocrine / blood, Carcinoma, Neuroendocrine / genetics, Female, Humans, Prognosis, Retrospective Studies, Thyroid Neoplasms / blood, Thyroid Neoplasms / genetics, Proto-Oncogene Proteins c-ret, RET protein, human, Thyroid cancer, medullary

Background: Previous studies have suggested that the variability in age of onset and aggressiveness of medullary thyroid carcinoma (MTC) in patients with multiple endocrine neoplasia type 2A (MEN 2A) carrying the same REarranged during Transfection (RET) mutation may be caused by additional RET germline variants or somatic variants. Methods: This study was a retrospective case comparison study of all MEN 2A index patients (n = 2) with the RET L790F germline mutation in Denmark. Whole blood and MTC tissue were analyzed for RET germline variants and other somatic variants (>500), respectively. Results: Patient 1 presented with MTC (T1aN1bM0) at age 14 years, while patient 2 presented with MTC (T1bN0M0) at age 70 years. No germline RET germline variants nor other variants were found to explain this MTC variability. Conclusions: We could not confirm the previously reported finding of a somatic RET variant as likely responsible for the early onset and aggressiveness of MTC in a RET germline mutation carrier. Also, we found no RET germline variants that could explain the MTC variability among our index patients. We did, however, identify a somatic FLT3 R387Q variant with an unknown potential as genetic modifier. Further large-scale studies are needed to investigate genetic modifiers in RET L790F carriers.
Autism and duplication of 17q12q21.2 by array-CGH: a case report
Authors: Alana Weingartner, Naiara Bozza Pegoraro, Rie Tiba Maglioni, Isabelle Caroline Fasolo Normandia Moreira, Gabriela Esmanhoto Rodrigues, Ana Clara Kunz, Caroline Brandão Piai, Aline Sauzem Milano, Salmo Raskin, Lilian Pereira Ferrari, Liya Regina Mikami
Journal: Rev Paul Pediatr (2023)
MeSH terms: Autism Spectrum Disorder / diagnosis, Autism Spectrum Disorder / genetics, Autistic Disorder, Case Reports, Child, Preschool, Comparative Genomic Hybridization, DNA Copy Number Variations, Humans, Infant, Male

Objective:
Autism spectrum disorder (ASD) affects cognitive development and social interaction on different levels. Genetic and environmental factors are associated with secondary ASD. Genetic inheritance is mainly polygenic, and 10% are copy number variations (CNVs). Array comparative genomic hybridization (array-CGH) is used to identify CNVs. This report aimed to discuss autism spectrum disorder and its diagnosis by array comparative genomic hybridization, highlighting the association with the pathogenic duplication of 17q12q21.2.
Case description:
A male baby was born at 37 weeks' gestation by cesarean section. The child showed strabismus, cryptorchidism, hypertelorism, frontal bossing, and developmental delay, walking at 25 months and talking at 4 years. At the age of 2 years, array-CGH of peripheral blood revealed a 5.6-Mb 17q12q21.2 duplication or arr 17q12q21.2 (34,815,527-40,213.109)x3 encompassing 190 genes, including HNF-1B and LHX1. The child was clinically diagnosed with ASD.
Comments:
Changes in the 17q12 segment, such as the duplication found, have been associated with the development of several problems in previous studies, mainly kidney diseases and behavioral disorders. Located at this chromosome region, HNF1's homeobox B codes a member of the superfamily containing homeodomain of transcription factors. Another gene associated with abnormalities in neurological development regarding 17q12 deletions is LHX1, as shown in this case study. LHX1 plays a role in the migration and differentiation of GABA neurons, modulating the survival of pre-optical interneurons, thus affecting cellular migration and distribution in the cortex. Changes in this control result in flaws in interneuron development, contributing to the pathophysiology of psychiatric diseases.
Childhood-onset Caroli's disease as a cause of recurrent fever: A case report
Authors: Jing Sun, Sheng Wang, Biquan Chen
Journal: Front Pediatr (2022)
Keywords: caroli’s disease, case report, intrahepatic bile duct dilatation, pediatrics, recurrent fever
MeSH terms: Case Reports

Caroli's disease is a rare congenital bile duct malformation characterized by intrahepatic bile duct dilatation. This kind of situation is seldom encountered in clinical work. We report such a case who presented to our emergency department with recurrent fever as initial symptom. According to the clinical manifestation and imaging examination, a 13-year-old boy was diagnosed with suppurative cholangitis and sepsis caused by Caroli's disease. The symptoms were got relieved after antibiotic therapy upgraded from cephalosporins to carbapenems. After 5 months of follow-up, he did not have fever, abdominal pain or any other discomfort. We believe the present report is of medical significance since it serves as a reminder that Caroli's disease may have atypical presentations and be masked by non-specific clinical findings. The report hopes to enlighten our pediatric colleagues by providing more knowledge on such rare congenital disease.
Aseptic Meningitis as an Immune-Related Adverse Event after Pembrolizumab
Authors: Gian Lima, Adriana Kahn, Shashank Sama, Jacqueline Savage
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Introduction:
The management of patients with advanced malignancies is challenging, although recent advances with immunotherapy have shown better outcomes. Pembrolizumab has been associated with a variety of immune-related side effects, but the occurrence of aseptic meningitis is rare.
Case:
A 55-year-old male with a history of metastatic lung adenocarcinoma previously treated with pembrolizumab presented with persistent severe headaches and photophobia. Subsequent workup with cerebrospinal fluid analysis showed elevated opening pressure, increased nucleated cells with 30% lymphocytes, elevated protein levels, and normal glucose levels. The patient was started on high doses of IV steroids and progressed with significant improvement of his symptoms.
Discussion:
Given the rarity of this side effect, this case is a reminder that immune checkpoint inhibitors can cause aseptic meningitis and its early recognition is important for initiation of therapy with steroids and prompt discontinuation of the immunotherapy agent.
Optical Coherence Tomography Angiography of Macular Telangiectasia Type 2 with Associated Subretinal Neovascular Membrane
Authors: Victor M Villegas, Jaclyn L Kovach
Journal: Case Rep Ophthalmol Med (2017)
MeSH terms: Case Reports

Optical coherence tomography angiography (OCTA) is a recently established noninvasive technology for evaluation of the retinal and choroidal vasculature. The literature regarding the findings in macular telangiectasia type 2 (MacTel2) is scarce. We report the OCTA findings associated with a subject with MacTel2 and secondary subretinal neovascularization (SNV). The commercially available Cirrus 5000 with AngioPlex (Zeiss, Jena, Germany) was used, without any subsequent image modification or processing. Subretinal neovascularization was detectable with OCTA at the level of the outer retina and choriocapillaris. Microvascular abnormalities associated with MacTel2 were present mostly in the deep capillary plexus of the retina temporally.
Peripherally Embolizing Aortic Thrombus: The Work-Up, Management, and Outcome of Primary Aortic Thrombus
Authors: Ramy Mando, Robert Gemayel, Ashish Chaddha, Julian J Barbat, Elvis Cami
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Background:
Primary aortic thrombus is an uncommon entity and not frequently reported in the literature. Herein, we discuss the presentation and management of a patient with a primary thoracic mural thrombus.
Case summary:
A 46-year-old female with past medical history of tobacco dependence presented for low-grade fever and sudden onset, severe right upper quadrant abdominal pain with associated nausea and vomiting. Computed tomography (CT) revealed an intraluminal polypoid filling defect arising from the isthmus of the aorta projecting into the proximal descending aorta and findings consistent with infarction of the spleen and right kidney. Infectious, autoimmune, hematologic, and oncologic work-up were all unyielding. The patient was started on heparin and later transitioned to apixaban 5 mg twice a day and 81 mg of aspirin daily. She was also counseled regarding smoking cessation. Two months follow-up CT revealed resolution of the thrombus. Patient had no further thromboembolic complications.
Discussion:
We present a unique case of primary aortic thrombus. To our knowledge, this is the first reported case managed successfully with a NOAC. This diagnosis is one of exclusion and through work-up should be completed. Our aim is to raise awareness of this condition and successful management with apixaban in low-risk patients.
Extensive polyostotic fibrous dysplasia evaluated for malignant transformation with 99mTc-MDP bone scan and 18F-FDG PET/CT
Authors: William Makis, Stephan Probst
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Fibrous dysplasia accounts for approximately 7% of benign bone tumours and is a developmental disorder of unknown aetiology. Malignant transformation has been reported in 0.4% of all cases of fibrous dysplasia, and the use of 18F-fludeoxyglucose positron emission tomography/CT scan in the evaluation of malignant transformation has not yet been established. A 72-year-old male with a long-standing history of polyostotic fibrous dysplasia presented with chest and back pain and was evaluated with a 99mTc-methylene diphosphonate bone scan as well as an 18F-fludeoxyglucose positron emission tomography/CT scan to define the extent of bone involvement and assess for possible malignant transformation. We present the imaging findings as well as the long-term follow-up of this case.
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure
Authors: Bernd Gruhn, Joerg Seidel, Felix Zintl, Raymonda Varon, Holger Tönnies, Heidemarie Neitzel, Astrid Bechtold, Holger Hoehn, Detlev Schindler
Journal: Orphanet J Rare Dis (2007)
MeSH terms: Bone Marrow Diseases / surgery, Bone Marrow Transplantation / methods, DNA Ligases / deficiency, Case Reports, Adolescent, Bone Marrow Diseases / complications, Bone Marrow Diseases / diagnosis, Bone Marrow Diseases / physiopathology, Child, Child Development, Child, Preschool, DNA Ligase ATP, DNA Repair-Deficiency Disorders / diagnosis, Diagnosis, Differential, Female, Fetal Growth Retardation / etiology, Humans, Infant, Infant, Newborn, Microcephaly / etiology, Pregnancy, Prenatal Diagnosis, Treatment Outcome, LIG4 protein, human, DNA Ligases, DNA Ligase ATP

Background:
DNA Ligase IV deficiency syndrome is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA ligase IV gene (LIG4). The clinical phenotype shows overlap with a number of other rare syndromes, including Seckel syndrome, Nijmegen breakage syndrome, and Fanconi anemia. Thus the clinical diagnosis is often delayed and established by exclusion.
Methods:
We describe a patient with pre- and postnatal growth retardation and dysmorphic facial features in whom the diagnoses of Seckel-, Dubowitz-, and Nijmegen breakage syndrome were variably considered. Cellular radiosensitivity in the absence of clinical manifestations of Ataxia telangiectasia lead to the diagnosis of DNA ligase IV (LIG4) deficiency syndrome, confirmed by compound heterozygous mutations in the LIG4 gene. At age 11, after a six year history of progressive bone marrow failure and increasing transfusion dependency the patient was treated with matched sibling donor hematopoietic stem cell transplantation (HSCT) using a fludarabine-based conditioning regimen without irradiation.
Results:
The post-transplantation course was uneventful with rapid engraftment leading to complete and stable chimerism. Now at age 16, the patient has gained weight and is in good clinical condition.
Conclusion:
HSCT using mild conditioning without irradiation qualifies as treatment of choice in LIG4-deficient patients who have a matched sibling donor.