OpenMed/multicare-articles huggingface dataset:
Versatility of composite grafts for nasal defects - a case series
Authors: Caroline Asirvatham Gjorup, Michael Prangsgaard Moeller, Camilla Asklund, Lisbet Rosenkrantz Hölmich, Line Bro Breiting
Journal: Case Reports Plast Surg Hand Surg (2022)
Keywords: alar reconstruction, chondrocutaneous graft, composite graft, facial reconstruction, nasal reconstruction
MeSH terms: Case Reports

This retrospective study describes the reconstruction of 18 nasal defects with chondrocutaneous (composite) grafts. Composite grafts are versatile one-stage options for defects ≤2.5 cm at the lower third of the nose and are particularly useful in reconstruction of small full-thickness defects and superficial defects bordering or involving the alar rim.
Rapid development of a spinal epidural hematoma following thoracic epidural catheter removal in an esophageal carcinoma surgical patient: a case report
Authors: Takeshi Umegaki, Kiichi Hirota, Sayaka Ohira, Takeo Uba, Munenori Kusunoki, Akihisa Okamoto, Kenichiro Nishi, Takahiko Kamibayashi
Journal: JA Clin Rep (2016)
Keywords: esophageal carcinoma, spinal epidural hematoma, thoracic epidural catheter

Background:
The occurrence of spinal epidural hematomas associated with the use of epidural catheters is relatively rare. Furthermore, it is unusual for hematoma-associated neurological symptoms to occur within 15 min of removing a catheter. Here, we report our experience with an esophageal carcinoma surgical patient who developed an epidural hematoma almost immediately after catheter removal, resulting in paralysis of his lower extremities. The patient achieved full neurological recovery following prompt diagnosis and surgical intervention.
Case presentation:
A 68-year-old man was admitted with esophageal carcinoma and underwent video-assisted thoracoscopic esophagectomy followed by posterior mediastinal gastric tube reconstruction. During surgery, the patient was administered both general and epidural anesthesia. The epidural catheter was inserted approximately 5 cm into the epidural space at the Th6-7 level. The patient was extubated the following day in the general intensive care unit. Two days after surgery, the d-dimer level was high at 36.9 μg/mL (reference range 0-0.9 μg/mL), and we decided to administer an anticoagulant (enoxaparin sodium) to prevent thrombosis. The epidural catheter was removed 2 h prior to the scheduled administration of enoxaparin sodium. However, the patient reported a complete lack of strength in his lower extremities 15 min after catheter removal. Upon examination, the manual muscle testing score was 1 out of 5, and the patient experienced impaired touch sensation and cold sensation below Th4. An emergency magnetic resonance imaging scan was performed 2 h after catheter removal, which revealed a possible spinal epidural hematoma spreading from Th3 to Th6. Three hours after catheter removal, we began emergency surgery to evacuate the hematoma, which had spread to Th7. After surgery, the patient showed improvements in touch sensation, cold sensation, and motor function. The patient was able to walk 2 days after hematoma removal.
Conclusions:
It is highly unusual for a spinal epidural hematoma to develop so rapidly after the removal of an epidural catheter. This case emphasizes the need for vigilant patient monitoring, rapid diagnosis, and prompt surgery to ensure adequate neurological recovery in these patients.
A Rare Case Report of NEHI in a Preterm Infant with Review of the Literature
Authors: Chetna Mangat, Mikaela DeCoster, Natasa Milosavljevic, Lisa Hiskey, Elizabeth H Ristagno, Nadir Demirel
Journal: Case Rep Pediatr (2022)
MeSH terms: Case Reports

Background:
Neuroendocrine cell hyperplasia of infancy (NEHI) is a rare respiratory disorder. During infancy, it typically presents with hypoxemia, tachypnea, and respiratory distress, and is commonly misdiagnosed as common childhood illnesses such as pneumonia, reactive airway disease, or bronchiolitis. Lack of awareness about this relatively new and rare disorder in primary care and acute care settings lead to delayed diagnosis and unnecessary use of antibiotics. Case Presentation. We present a case of a 7-month-old girl, born prematurely at 32 weeks with tachypnea and respiratory distress who was initially diagnosed with viral pneumonia, then upper respiratory infection, and finally with community-acquired bacterial pneumonia, while the child never had any fever or upper respiratory symptoms. Failure of outpatient treatment with oral antibiotic and bronchodilator, with the persistence of respiratory symptoms such as retractions, bilateral crackles, and hypoxemia led to hospitalization for intravenous antibiotics. Given persistent symptoms, further evaluation was performed, and she was diagnosed with NEHI based on characteristic chest CT findings.
Conclusions:
Viral respiratory infections are the most frequent cause of respiratory illnesses in the first years of life. Primary care providers should be aware of less frequent causes of persistent respiratory symptoms in infancy like NEHI and other interstitial lung diseases in children. This may prevent unnecessary use of antibiotics and delayed diagnosis.
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature
Authors: Nicholas A Bascou, Maria L Beltran-Quintero, Maria L Escolar
Journal: Front Neurol (2020)
Keywords: krabbe disease (globoid cell leukodystrophy), genotype-phenotype correlation, later-onset, neurodevelopment, vision loss
MeSH terms: Case Reports

Background: Krabbe disease is an autosomal recessive demyelinating disorder resulting from deficiency of the lysosomal enzyme galactocerebrosidase. While blindness is often described as a characteristic finding of the disease, it is more common in the infantile phenotype, where vision loss typically arises in the late stages of disease. In comparison, reports of vision loss in late onset phenotypes are less well-described and may be subject to variation between genotypes. Methods: Charts of Krabbe patients with a confirmed diagnosis, who presented with substantial visual impairment, were retrospectively reviewed from a larger group of 199 Krabbe patients. Assessment of clinical status was obtained through review of neurological evaluations, neurodevelopmental assessments, ophthalmological evaluations, visual evoked potentials (VEP), electroretinogram (ERG), nerve conduction velocity (NCV) studies, auditory brainstem responses (ABR), and brain magnetic resonance imaging. Results: Five late onset patients with Krabbe disease (four juvenile and one late-infantile) were included. Three patients were homozygous for c.956A>G_p.Y319C, one was compound heterozygous for c.296+1G>T and c.956A>G_p.Y319C, and one was compound heterozygous for c.1186C>T_p.R396W and c.1901T>C_p.L634S. All patients were of Asian descent and presented initially with vision impairment. Notably, the patients did not present with marked appendicular spasticity or axial hypotonia and all five reached developmental milestones within the normal time frame. For neurophysiological testing, no patient showed abnormalities in NCV or ABR. However, abnormalities in VEP or ERG were seen in all patients. The one patient who underwent transplantation stabilized following treatment. Conclusions: Depending on their genotype, patients with late onset Krabbe disease may initially present with vision loss. Furthermore, patients with p.L634S and p.Y319C should be closely monitored for changes in vision and VEP. This knowledge will become increasingly important as physicians may otherwise overlook these signs and symptoms when monitoring children identified through newborn screening who have the variants described in this report.
Giant lumbar schwannoma with retroperitoneal extension and vertebral body invasion: a case report
Authors: Angky Saputra, Joshua Sutikno, Raka Janitra, Erliano Sufarnap, Centery, Roslan Yusni Hasan, Satyanegara, Harviandi Sumarsudi, Franky Yesaya Siahaan, Komaruddin Boenjamin
Journal: Pan Afr Med J (2023)
Keywords: schwannoma, case report, lumbar spine, retroperitoneal, surgery
MeSH terms: Low Back Pain, Nerve Sheath Neoplasms / pathology, Neurilemmoma / diagnosis, Neurilemmoma / pathology, Neurilemmoma / surgery, Case Reports, Female, Humans, Lumbar Vertebrae, Middle Aged, Retroperitoneal Space, Vertebral Body / pathology

Schwannoma is a type of peripheral nerve sheath tumor derived from Schwann cells. There have been only a few cases of giant lumbar schwannoma with retroperitoneal extension eroding the vertebral body documented. Thus, managing these tumors presents various challenges. This paper reports a case of a 59-year-old woman who experienced lower back radicular pain for a year. A lumbar magnetic resonance imaging revealed the presence of a giant extradural soft tissue tumor measuring 8.6x7.4x9.7 cm, compressing the right L5-S1 neural foramen and extending into the retroperitoneal space while eroding the L5 vertebral body. The patient underwent surgery via a retroperitoneal approach, and the tumor was successfully resected. Histopathological examination confirmed the diagnosis of schwannoma. In conclusion, giant retroperitoneal lumbar schwannomas with bone invasion are rare, and gross total resection is the preferred treatment option, but the size and location of the tumor can make the surgery challenging.
Kawasaki Disease with an Initial Manifestation Mimicking Bacterial Inguinal Cellulitis
Authors: Tsukasa Tanaka, Masaki Shimizu, Oshi Tokuda, Hiroko Yamamoto, Natsuki Matsunoshita, Kanae Takenaka, Keiichiro Kawasaki
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Background:
Kawasaki disease (KD) is typically characterized by fever, oral cavity erythematous changes, bilateral bulbar conjunctival injection, skin rash, erythema and edema of the hands and feet, and cervical lymphadenopathy. Some atypical patients with KD initially develop cervical and pharyngeal cellulitis; however, an initial presentation with inguinal cellulitis is extremely rare. In addition, to our knowledge, no report has documented the cytokine profile in a KD patient with cellulitis. Case presentation. A previously healthy 8-year-old Japanese girl was hospitalized following a 2-day history of fever and a 5-day history of pain and erythema in the left inguinal region. She was diagnosed with bacterial inguinal cellulitis and was administered antibiotics. The next day, a polymorphous rash emerged on her trunk. After 3 days of antibiotics, however, her fever continued and the cellulitis had spread over the entire lower abdomen. Simultaneously, the bilateral bulbar conjunctival injection without exudate became more prominent and her lips became erythematous. In addition, erythematous changes on her palms appeared a few hours later, which led to the diagnosis of KD. Since she had a high risk score that predicted no response to initial intravenous immunoglobulin (IVIG) at the initiation of treatment, she was treated with IVIG, intravenous prednisolone (PSL), and oral aspirin. The KD symptoms improved the next day, but the cellulitis did not completely resolve until 2 months after discharge. The patient's serum cytokine profile at admission had an IL-6 dominant pattern which was consistent with that of patients with KD despite her initial lack of KD symptoms, and the pattern observed at admission was sustained until IVIG and PSL administration.
Conclusion:
KD should be included in the differential diagnosis for patients presenting with inguinal cellulitis who are unresponsive to initial empiric antibiotics.
Fatal Outcome of European Tick-borne Encephalitis after Vaccine Failure
Authors: Parham Sendi, Cédric Hirzel, Stefan Pfister, Rahel Ackermann-Gäumann, Denis Grandgirard, Ekkehard Hewer, Arto C Nirkko
Journal: Front Neurol (2017)
Keywords: flavivirus, tick-borne encephalitis, tick-borne encephalitis vaccine, vaccine efficacy, vaccine failure
MeSH terms: Case Reports

Tick-borne encephalitis is a viral disease affecting the central nervous system. It is endemic in Switzerland with 200-250 notified cases annually. Active immunization is effective for persons in all age groups. Vaccine failure is rare, in particular after a completed vaccination course. Here, we describe the case of 67-year-old man with a fatal outcome despite vaccination. The diagnosis was confirmed by extensive postmortem analyses. The diagnostic challenges of vaccine failure in tick-borne encephalitis and the dynamics of the immune response in vaccination breakthrough are discussed.
Late Migration of an Adjustable-Loop Cortical Suspension Device in Anterior Cruciate Ligament Reconstruction
Authors: Brendan A Williams, Jorge Gil, Kevin W Farmer
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

A unique case of late migration of an adjustable-loop femoral fixation button utilized during anterior cruciate ligament (ACL) reconstruction is presented. Imaging and physical examinations during the patient's postoperative course were unremarkable for graft or hardware failure. Two years postoperatively, symptomatic hardware migration occurred requiring arthroscopic removal. To our knowledge, this is the first reported case of late migration of an adjustable-loop femoral fixation button in ACL reconstruction. This case highlights that late loosening and migration of adjustable-loop femoral fixation devices in ACL reconstruction can occur despite demonstrated postoperative radiographic and clinical stability. Surgeons utilizing this fixation device should be aware of this potential complication to avoid delayed recognition and patient morbidity.
Carcinoma of gall bladder presenting as dermatomyositis
Authors: Deepti Akkihebbal Narasimhaiah, Jennifer Anne Premkumar, Viju Moses, Geeta Chacko
Journal: Ann Indian Acad Neurol (2011)
Keywords: dermatomyositis, carcinoma, gall bladder, paraneoplastic
MeSH terms: Case Reports

Cancer-related muscle diseases are usually paraneoplastic disorders. Dermatomyositis (DM) is a type of inflammatory myopathy that is strongly associated with a broad range of malignant disorders. The malignancy can occur before, concomitantly or after the onset of myositis. The malignancies most commonly associated with DM are carcinomas of ovary, lung, stomach, colorectal and pancreas, as well as non-Hodgkin's lymphoma. An association of DM with carcinoma of the gall bladder (GB) is extremely rare with only two previously reported cases in the literature. We report a case of carcinoma of GB with DM as the paraneoplastic manifestation.
The Role of RYR2 in Atrial Fibrillation
Authors: Bernhard M Boehm, Jochen Gaa, Petra Hoppmann, Eimo Martens, Dominik S Westphal
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background. Atrial fibrillation (AF) is a common arrhythmia in elderly patients and is associated with increased risk of mortality. The pathogenesis of AF is complex and based on multiple genetic and environmental factors. Genome-wide association studies identified several loci in AF patients, indicating the complex genetic architecture of this disease. In rare cases, familial forms of AF have been described. Today, pathogenic variants in at least 11 different genes are associated with monogenic AF. Case presentation. The 37-year-old male patient presented to our emergency department with AF. At the age of 35, he had already been diagnosed with paroxysmal AF. Additionally, his 34-year-old brother had also been diagnosed with AF as well as nonobstructive hypertrophic cardiomyopathy. Moreover, the patient's father was diagnosed with AF in his twenties. Transthoracic echocardiography and cardiac MRI revealed a reduced systolic left ventricular ejection without any signs of hypertrophic cardiomyopathy. Genetic testing identified the heterozygous missense variants c.3371C > T, p.(Pro1124Leu) in RYR2 (NM_001035.3) and c.2524C > A, p.(Pro842Thr) in HCN4 (NM_005477.3) in the patient's and his brother's DNA. Discussion. This case of familial AF helps to strengthen the role of RYR2 as a disease gene in the context of AF. Although the variant in RYR2 needs to be classified formally as variant of unknown significance, we regard it as probably disease-causing due to the previously published data. As RYR2 has already been identified as a possible target for prevention and therapy of AF, the knowledge of variants in RYR2 might become even more crucial for individual molecular therapies in the future.
Lung Abscess: An Early Complication of Lung Transplantation in a Patient with Cystic Fibrosis
Authors: I Markelić, M Jakopović, W Klepetko, F Džubur, A Hećimović, M J Makek, M Samaržija, A V Dugac
Journal: Int J Organ Transplant Med (2017)
Keywords: acinetobacter baumannii, cystic fibrosis, lung abscess, lung transplantation
MeSH terms: Case Reports

A 22-year-old woman with cystic fibrosis (CF) developed lung abscess, as a rare complication caused by multidrug-resistant (MDR) Acinetobacter baumannii infection, after lung transplantation (LT). After 6 months of long-term antibiotic therapy, the abscess was successfully eliminated. In reviewed published literature, no previous report was found describing this kind of complication caused by MDR A. baumannii in post-LT patient with CF. In our experience, lung abscess in LT recipients with CF can be successfully treated with prolonged antibiotic therapy.
Primary Vasculitis in Childhood: GPA and MPA in Childhood
Authors: Mehul P Jariwala, Ronald M Laxer
Journal: Front Pediatr (2018)
Keywords: anca—associated vasculitis, childhood vasculitis, granulomatosis with polyangiitis, microscopic polyangiitis, small vessel vasculitis
MeSH terms: Review

Childhood onset anti-neutrophilic cytoplasmic antibody (ANCA) associated vasculitis (AAV) is a rare group of primary systemic vasculitides affecting medium and small blood vessels. AAV includes granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA), and renal limited ANCA vasculitis. These disorders are associated with severe clinical manifestations, frequent relapses and a high cumulative morbidity, and often present with multisystem involvement. Renal involvement is common in the pediatric age group, characterized by pauci-immune necrotizing and crescentic glomerulonephritis which frequently progresses to chronic kidney disease in adulthood. ANCAs against proteinase 3 (PR3-ANCA) or myeloperoxidase (MPO) (MPO-ANCA) remain the hallmark of AAV and are integral to the disease pathogenesis. Newer understanding of neutrophil extracellular traps and complement activation have provided better insights into disease pathogenesis. A pediatric vasculitis working group has developed and validated childhood vasculitis classification criteria and disease activity and damage scores. No specific pediatric treatment recommendations exist due to rare nature of the illness in pediatric population. Smaller case series have been published on the efficacy of adult treatment regimens in pediatric patients. The prognosis often remains guarded with frequent relapses and a high cumulative morbidity. The aim of this article is to provide a comprehensive review on pediatric AAV with a focus on recent observations regarding epidemiology, disease pathogenesis, treatment, and prognosis.
Pulmonary sarcoidosis with arterial involvement
Authors: Adriane Souza da Paz, João Carlos Coelho, Bartira Melo, Ana Luísa Pedreira, Mittermayer Barreto Santiago
Journal: Autops Case Rep (2021)
Keywords: granuloma, granulomatosis with polyangiitis, sarcoidosis
MeSH terms: Case Reports

Necrotizing sarcoid granulomatosis (NSG) is a rare and under-recognized cause of granulomatous disease, described as a variant of typical nodular sarcoidosis. It can be asymptomatic when the patient has a single pulmonary nodule or may be accompanied by cough, fever, and dyspnea, or even symptoms due to the involvement of other organs such as the eyes, liver, and central nervous system. The histopathological analysis is essential for the differential diagnosis of other infectious and non-infectious causes of granuloma and to determine the appropriate treatment. NSG is characterized by the presence of a granuloma with extensive coagulative necrosis associated with the occurrence of vasculitis. We present the case of a patient diagnosed with NSG who had an unusual outcome with recurrent pulmonary thromboembolisms followed by hemodynamic instability and death.
ALK-Negative Anaplastic Large Cell Lymphoma Presenting as Disseminated Intravascular Coagulation and Hemophagocytic Lymphohistiocytosis: A Potentially Fatal Presentation
Authors: Uroosa Ibrahim, Amina Saqib, Maryam Rehan, Jean Paul Atallah
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder that can be familial in etiology or a result of infections, malignancy, and autoimmune or inflammatory disorders. Disseminated intravascular coagulation (DIC) is common in patients admitted to intensive care units and can confound and delay the diagnosis of HLH. We present a case of a 69-year-old female who presented with dyspnea and malaise. Her condition declined rapidly with laboratory parameters consistent with DIC. In addition, she had a ferritin of 32,522 ng/mL, low haptoglobin, and elevated LDH, and bone marrow biopsy showed hemophagocytic lymphohistiocytes. She was started on HLH-directed therapy, and later, a diagnosis of ALK-negative anaplastic large cell lymphoma was made on an excisional inguinal lymph node biopsy specimen. Our case emphasizes the importance of prompt recognition, diagnosis, and treatment of HLH while workup for a primary disorder is still being pursued.