OpenMed/multicare-articles huggingface dataset:
Leptospirosis as an important differential of pulmonary haemorrhage on the intensive care unit: a case managed with VV-ECMO
Authors: James Barnacle, Stefan Gurney, Stephane Ledot, Suveer Singh
Journal: J Intensive Care (2020)
Keywords: diffuse alveolar haemorrhage, extra-corporeal membrane oxygenation, leptospirosis, pulmonary haemorrhage, weil’s disease
MeSH terms: Case Reports

Background:
Leptospirosis is a potentially fatal zoonosis. It can cause a wide range of symptoms, including diffuse alveolar haemorrhage which occurs in a minority of cases but carries a mortality of over 70%. These patients may present with severe acute respiratory failure. The differential diagnosis for diffuse alveolar haemorrhage is broad whereas prompt diagnosis and treatment can be lifesaving.
Case presentation:
A 20-year-old previously fit and well trout farm worker presented with a 3-day history of malaise, fevers, diarrhoea, vomiting and jaundice. He developed haemoptysis, severe headaches, neck stiffness and photophobia on the day of emergency admission. He was anaemic and thrombocytopenic. Anuric acute kidney injury (urea 32, creat 507) required immediate haemofiltration. In view of progressive respiratory failure with four-quadrant lung infiltrates on imaging, he was given broad spectrum antibiotics and pulsed methylprednisolone empirically, in case of a vasculitic pulmonary-renal presentation. He was intubated within 48 h of admission. Despite attempted protective ventilatory management, he remained hypoxaemic and developed pneumomediastinum. He was retrieved to a specialist cardiorespiratory intensive care unit on femoro-femoral mobile VV-ECMO. Three days from admission, results showed positive Leptospira IgM and real-time PCR. Serial bronchoscopies showed old and fresh clots, but not the classical progressive late red tinge of the returned lavage fluid. After eight days, VV-ECMO was weaned, he was extubated three days later, and made a full recovery. At 9 months follow-up, he was clinically better, with resolution of the CT scan findings and near normal lung function, albeit with low normal gas transfer.
Conclusions:
Leptospirosis is a rare but important differential to be considered in diffuse alveolar haemorrhage presenting to the ICU, especially in young males. A thorough history for occupational or recreational risk factors may offer the diagnostic clue. Most patients recover fully with antibiotics. However, resulting acute severe respiratory failure can ensue. In this situation, early consideration for respiratory ECMO support offers time for clearance of endobronchial clot, parenchymal recovery, and prevention of ventilator-induced lung injury. Steroids have no clear evidence but may be used to avoid delay in treating suspected vasculitic or autoimmune causes of diffuse alveolar haemorrhage.
Pilomatricoma of the thigh: a case report
Authors: Rita Ait Benhamou, Maria Kharbouch, Hamza Tazi, Zineb Basri, Mohamed Amine Lakhdari, Oqbani Kenza, Mounia El Omari
Journal: Pan Afr Med J (2022)
Keywords: pilomatricoma, case report, pilomatrixoma, skin neoplasm
MeSH terms: Carcinoma / diagnosis, Hair Diseases / diagnosis, Hair Diseases / pathology, Hair Diseases / surgery, Pilomatrixoma / diagnosis, Pilomatrixoma / pathology, Pilomatrixoma / surgery, Skin Neoplasms / diagnosis, Skin Neoplasms / pathology, Skin Neoplasms / surgery, Case Reports, Diagnosis, Differential, Humans, Thigh

Pilomatricoma, formerly known as calcifying epithelioma of Malherbe, is a rare, benign, annexic skin tumor developed from the cells of the pilar matrix. The cure without recurrence is the rule after complete surgical excision. Clinical diagnosis is challenging. Actually, differential diagnosis include malignant pilomatricoma or trichomatrical carcinoma with significant aggressive potential. However, the diagnosis of pilomatricoma must remain clinical and be confirmed histologically. We report the rare case of a pilomatricoma, in an unusual location in the thigh.
Transient Neonatal Diabetes Mellitus with the Rare Association of Nonsuppurative Sialadenitis and Genetic Defects in 6q24
Authors: Manal Mustafa, Nitin Ramdas, Mahmoud Elhalik, Arif Faquih
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Background:
Transient neonatal diabetes mellitus (TNDM) is the most common cause of diabetes in the first week of life, with an overall incidence of 1 in 90,000 to 160,000 live births. TNDM occurs soon after birth and undergoes spontaneous remission during infancy; however, it may relapse to a permanent form of diabetes mellitus in childhood or adolescence. We report a case of TNDM due to hypomethylation on chromosome 6q24, associated with a rare clinical finding of nonsuppurative submandibular sialadenitis managed by subcutaneous insulin, and who underwent remission by three months of age. Case Presentation. We report a male neonate of Arab ancestry delivered by caesarean section at 37 weeks of gestation. He had intrauterine growth retardation with a birth weight of 2.099 kg. He presented with hyperglycemia on the first day of life, which was managed with parenteral insulin infusion. Blood glucose control was initially difficult to achieve due to difficulties in preparing such small doses of insulin and the significant variations in blood glucose concentrations, without ketosis. Blood tests revealed low serum insulin and C-peptide levels. Genetic analysis revealed multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in chromosome 6q24 and two pathogenic heterozygous variants in the ZFP57 gene. Segregation analysis showed that both parents were heterozygous carriers of familial ZFP57 variants. The clinical course was associated with bilateral nonsuppurative sialadenitis, which is extremely rare among newborns.
Conclusion:
Sialadenitis is a well-known phenomenon that is rarely diagnosed in neonates. To the best of our knowledge, this is the first case report to describe the exceedingly rare association of nonsuppurative submandibular sialadenitis in a neonate with TNDM due to multiple loci hypomethylation of the PLAGL1/HYMAI-DMR in the TNDM region in 6q24 and heterozygous pathogenic variants in the ZFP57 gene.
Primary Angiitis of the Central Nervous System Mimicking Glioblastoma: A Case Report and Literature Review
Authors: Hang Jin, Yang Qu, Zhen-Ni Guo, Guo-Zhen Cui, Fu-Liang Zhang, Yi Yang
Journal: Front Neurol (2019)
Keywords: imaging diagnosis, malignant glioma, primary angiitis of the central nervous system, tumor-like lesion, vasculitis
MeSH terms: Case Reports

Primary angiitis of the central nervous system (PACNS) is a rare disorder resulting in idiopathic inflammation affecting the parenchymal and leptomeningeal vessels confined to the central nervous system (CNS), of which a tumor-like mass lesion is an even rare subtype. We described a case of PACNS initially misdiagnosed as glioblastoma. The patient was a 35 year-old female with right-sided weakness and expressive dysphasia. Brain MRI showed a tumor-like lesion highly suggestive of glioblastoma, therefor surgical removal was done. After a resection and an exhaustive workup, PACNS was ultimately diagnosed. The case illustrates a type of imaging presentation of PACNS that is often misdiagnosed as high-grade glioma. Differentiation between tumor-like PACNS lesions and actual CNS tumors is challenging due to similar MR images. To avoid unnecessary surgical interventions, we summarized previously reported mass-forming PACNS cases in adults from January 1, 2000, to December 31, 2018 and the imaging characteristics of PACNS. Some less commonly used diagnostic methods such as MR spectroscopy may also help clinicians distinguish PACNS from its mimics.
Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
Authors: Rita Genesio, Paolo Fontana, Angela Mormile, Alberto Casertano, Mariateresa Falco, Anna Conti, Adriana Franzese, Enza Mozzillo, Lucio Nitsch, Daniela Melis
Journal: Mol Cytogenet (2015)
Keywords: 9q2113 deletion syndrome, chromothripsis, gnaq
MeSH terms: Case Reports

Background:
The chromothripsis is a biological phenomenon, first observed in tumors and then rapidly described in congenital disorders. The principle of the chromothripsis process is the occurrence of a local shattering to pieces and rebuilding of chromosomes in a random order. Congenital chromothripsis rearrangements often involve reciprocal rearrangements on multiple chromosomes and have been described as cause of contiguous gene syndromes. We hypothesize that chromothripsis could be responsible for known 9q21.13 microdeletion syndrome, causing a composite phenotype with additional features.
Case presentation:
The case reported is a 16- years-old female with a complex genomic rearrangement of chromosome 9 including the critical region of 9q21.13 microdeletion syndrome. The patient presents with platelet disorder and thyroid dysfunction in addition to the classical neurobehavioral phenotype of the syndrome.
Conclusions:
The presence of multiple rearrangements on the same chromosome 9 and the rebuilding of chromosome in a random order suggested that the rearrangement could origin from an event of chromthripsis. To our knowledge this is the first report of congenital chromothripsis involving chromosome 9. Furthermore this is the only case of 9q21.13 microdeletion syndrome due to chromothripsis.
Breaking Healthcare Barriers for Transgender Individuals With Rare Tumor Presentation
Authors: Christopher J Vaccaro, Margaret Grace McGrath, Erin McFadden
Journal: Cureus (2023)
Keywords: cancer, case report, cultural competency, germ cell tumor, testicular cancer, transgender
MeSH terms: Case Reports

Transgender persons can experience healthcare barriers and potentially suffer from preventable health disparities. Some challenges these individuals may face include the lack of provider education, social stigma, socioeconomic barriers to care, and insurance instability. Combating this problem requires systemic changes. Unfortunately, there are limited data on providers' perspective on taking care of transgender persons, and healthcare delivery systems are often unequipped to adequately manage these patients. This case presentation exemplifies many of these challenges. A 47-year-old transgender female with a history of testicular cancer, presented with bleeding from a lump on her neck. A computed tomography (CT) scan of the neck revealed a large mass suspicious of malignancy. Pathology identified metastatic colorectal adenocarcinoma. Esophagogastroduodenoscopy, colonoscopy, positron emission tomography scan, CT abdomen/pelvis, and serum tumor marker showed no evidence of a primary gastrointestinal malignancy. This presentation likely represents a late relapse of a residual, metastatic germ cell tumor with malignant somatic transformation. This case was greatly impacted by social determinants of health. The patient did not identify with her male anatomy, which delayed the detection of the initial testicular malignancy. In the post-operative period, the patient did not attend follow-up appointments to avoid discussing her male genitalia. When tumor relapse did occur, the patient experienced financial, insurance, and transportation instability; this delayed medical care and allowed the mass to grow to an extraordinary size.
Successful MRI-Guided Focused Ultrasound Uterine Fibroid Treatment Despite an Ostomy and Significant Abdominal Wall Scarring
Authors: Ronit Machtinger, Clare M C Tempany, Angela Kanan Roddy, Fiona M Fennessy
Journal: ISRN Obstet Gynecol (2011)
MeSH terms: Case Reports

We present a case of successful magnetic resonance imaging-guided focused ultrasound surgery (MRgFUS) of a uterine fibroid in a patient with extensive anterior abdominal wall surgical scars from two longitudinal laparotomies, a total colectomy and ileostomy. This case demonstrates that MRgFUS can be safely used in patients with an ostomy and significant abdominal wall scarring, but careful pretreatment planning and positioning during treatment is needed.
Missed opportunities for screening congenital syphilis early during pregnancy: A case report and brief literature review
Authors: Lei-Wen Peng, Yu-Jie Gao, Ya-Li Cui, Huang Xu, Zheng-Xiang Gao
Journal: Front Public Health (2023)
Keywords: treponema pallidum, awareness, congenital syphilis, pregnancy, prenatal screening, prevention
MeSH terms: Exanthema, Pregnancy Complications, Infectious / diagnosis, Syphilis / diagnosis, Syphilis, Congenital / diagnosis, Syphilis, Congenital / prevention & control, Case Reports, Female, Humans, Infant, Pregnancy, Treponema pallidum

Congenital syphilis is a significant public health problem. Pregnant women infected with Treponema pallidum present with various clinical manifestations, mainly including skin or visceral manifestations. The extensive clinical manifestations of T. pallidum infection mimic those of many other diseases during pregnancy, which may lead to delayed diagnosis and serious consequences. We report a case of fetal T. pallidum infection and premature delivery in a woman whose syphilis screening was negative at 16 weeks of gestation. Despite presenting to the dermatologist at 24 weeks of gestation with maculopapular rash which is usually associated with secondary syphilis, the diagnosis of syphilis was not considered. This case shows that even if early syphilis screening of pregnant women is negative, they may still get infected with T. pallidum later on in pregnancy. Therefore, in patients presenting with a rash without an obvious cause, T. pallidum infection should be excluded. The health status of patients' spouses should be assessed during pregnancy. Additionally, perinatal health education is necessary for women and their spouses during pregnancy. The abovementioned factors could reduce the probability of T. pallidum infection in pregnant women and their infants.
Along for the Ride: Intrahepatic Cholangiocarcinoma with Concomitant LECT2 Amyloidosis
Authors: Phoenix D Bell, Aaron R Huber, Tom C DeRoche
Journal: Case Rep Pathol (2020)
MeSH terms: Case Reports

We present a case of a 69-year-old Hispanic male with a past medical history of type II diabetes mellitus who presented with a two-month history of abdominal pain. A CT scan was performed which identified a liver mass. Biopsy of the liver mass revealed infiltration of normal liver parenchyma by atypical glands surrounded by pale eosinophilic material. The atypical glands were positive for CK7, while negative for CK20, CDX-2, and TTF-1, consistent with intrahepatic cholangiocarcinoma. A Congo red stain was performed, which highlighted salmon-orange areas, some with a globular appearance, around the glands and within the sinusoids and vasculature. Under polarized light, these areas displayed apple-green birefringence. These findings were consistent with amyloidosis, which was further supported by identification of ALECT2- (leukocyte chemotactic factor-2-) type amyloid on mass spectrometry. To our knowledge, this is the first documented case of intrahepatic cholangiocarcinoma arising in association with LECT2 amyloidosis.
Xanthogranulomatous salpingitis associated with a large uterine leiomyoma
Authors: Joanne Margaret Howey, Etienne Mahe, Jasim Radhi
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

A case of xanthogranulomatous salpingitis (XGS) associated with a large uterine leiomyoma in a 50-year-old woman is presented. Xanthogranulomatous inflammation is an uncommon form of chronic inflammation that is destructive to affected organs. It is characterized by the presence of lipid-filled macrophages with admixed lymphocytes, plasma cells, and neutrophils. A review of the literature revealed that most patients with XGS have a clinical history of long-standing pelvic inflammatory disease (PID) or, less often, endometriosis. We report a case lacking a history of either PID or endometriosis but with a concurrent large uterine leiomyoma. Although the exact etiology in this case was not clear, the leiomyoma may have played a contributory role in pathogenesis.
Perioperative management of acute myocardial infarction in the 31st week of pregnancy: A case report and literature review
Authors: Pei Sun, Xin-Quan Liang, Tao Hong, Hong Zhang
Journal: Front Surg (2022)
Keywords: anesthesia management, case report, multidisciplinary collaboration, pregnancy, pregnancy-related acute myocardial infarction (pami)
MeSH terms: Case Reports

Pregnancy-related acute myocardial infarction (PAMI) is rare but life-threatening. The incidence of PAMI is growing over time for multiple reasons, and the management of parturients with acute myocardial infarction is challenging in terms of diagnosis and treatment. To date, there are still no clear guidelines on the best practice for PAMI. We present a case of a 41-year-old woman with PAMI at 31 weeks of pregnancy. Through multidisciplinary collaboration, successful outcomes were achieved for both the mother and fetus.
Dual-balloon assisted super-selective embolisation of high flow arterial venous fistula within a transplant kidney
Authors: Sara Ffrench-Constant, Nisal Weerakoon, Rahul Amin, Luke Dixon, David Taube, Mohamad Hamady
Journal: CVIR Endovasc (2018)
Keywords: balloon assisted embolisation, embolisation, high flow arteriovenous fistula, iatrogenic fistula, renal transplant

Background:
In this case report, we describe a novel application of the technique of 'dual-balloon assisted' cannulation and embolisation of a high flow arterial venous fistula (AVF) in transplant kidney, where attempts at standard and previously described embolisation techniques were proving difficult to achieve.
Case presentation:
Seventy year old gentleman with renal transplant presenting with high output cardiac failure and deteriorating renal function. Angiography demonstrated high flow traumatic AV fistula within transplanted kidney, secondary to multiple biopsies. Attempts at guidewire and guiding sheath placement and stability for occlusion plug deployment were failing due to combination of very high back-flow pressures within the AVF and challenging vascular anatomy; with an aneurysmal, tortuous iliac artery as well as intra renal transplanted vessels. A combination of angioplasty and remodeling aortic balloons in the transplant artery and the host external iliac vein respectively, facilitated stabilization of guiding sheath and hence controlled delivery of an occlusion plug from the venous side of the fistula. The fistula was successfully embolised, leading to complete resolution of patient symptoms and improvement of renal function beyond his previous baseline.
Conclusions:
Percutaneous embolisation is an established technique to treat iatrogenic AVF in transplant kidneys. High flow pressure through an AVF, as demonstrated in this case, can cause difficulty and raise safety issues in accessing and embolising the AVF using previously described techniques. This case report describes an effective and novel application of the technique of using a second balloon in the host common iliac vein to; lower flow pressure, stabilise the guidewires during plug deployment and prevent displacement of wires and/or plug into the common iliac vein.
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature
Authors: Brian P Brooks, Jeanne M Meck, Bassem R Haddad, Claude Bendavid, Delphine Blain, Jeffrey A Toretsky
Journal: BMC Med Genet (2006)
MeSH terms: Abnormalities, Multiple / genetics, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 16, Developmental Disabilities / genetics, Factor VII Deficiency / genetics, Translocation, Genetic, Case Reports, Review, Abnormalities, Multiple / diagnosis, Child, Developmental Disabilities / diagnosis, Factor VII Deficiency / diagnosis, Humans, Karyotyping, Male, Monosomy, Trisomy

Background:
Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments.
Case presentation:
A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, multiple midline abnormalities (agenesis of the corpus callosum, imperforate anus, bilateral optic nerve hypoplasia), developmental delay, hypopigmented macules, short 5th fingers, and sleep apnea due to enlarged tonsils. Cytogenetic and fluorescence in situ hybridization analyses revealed an unbalanced translocation involving the segment distal to 16p13 replacing the segment distal to 13q33 [46, XY, der(13)t(13;16)(q33;p13.3)]. Specific BAC-probes were used to confirm the extent of the 13q deletion.
Conclusion:
This unique unbalanced chromosomal translocation may provide insights into genes important in midline development and underscores the previously-reported phenotype of Factor VII deficiency in 13q deletions.
Fusion Surgery Required for Recurrent Pediatric Atlantoaxial Rotatory Fixation after Failure of Temporary Fixation with Instrumentation
Authors: Yoshiyuki Matsuyama, Tetsuhiro Ishikawa, Ei Ozone, Masaaki Aramomi, Seiji Ohtori
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

In cases of chronic irreducible and recurrent unstable atlantoaxial rotatory fixation (AARF), closed reduction and its maintenance are often unsuccessful, requiring surgical treatment. The purpose of the present report is to describe a rare case of pediatric AARF that required multiple treatments. A 6-year-old boy was diagnosed as having type 2 AARF. After conservative treatment, the patient was treated with temporary fixation surgery (C1-C2 Magerl) without a bone graft in consideration of motion preservation after screw removal. AARF recurred after the screw removal and required fusion surgery (Magerl-Brooks) with an iliac bone graft. Ultimately, bone union was achieved and the screws were removed 11 months after the surgery. We recommend surgeons be cautious when choosing temporary fixation surgery for AARF in small children. Further investigation is needed to determine the optimal time before screw removal.
An unusual presentation of neurosarcoidosis with progressive hearing loss
Authors: Abdellah Taous, Maha Aït Berri, Mohamed Sinaa, Issam En-Nafaa, Karim Nadour, Abdelhadi Rouimi
Journal: Pan Afr Med J (2017)
Keywords: hearing loss, neurosarcoidosis, rare complication
MeSH terms: Central Nervous System Diseases / diagnosis, Hearing Loss / etiology, Sarcoidosis / diagnosis, Case Reports, Central Nervous System Diseases / complications, Disease Progression, Female, Humans, Middle Aged, Sarcoidosis / complications, Neurosarcoidosis

Sarcoidosis is a granulomatous disease of unknown etiology that can involve several organ system. Neurological manifestations are not common and mostly include cranial neuropathies. However, auricular disorders are rare and exceptionally inaugural. We describe the case of a 46-year-old lady presented with hearing loss as the initial manifestation of sarcoidosis, and aim to raise awareness of this condition, that is often associated with significant morbidity.