RESUMEN
Herein we present the fatal case of premature baby with coincidence of extreme form of ectopia cordis and hypoplastic left heart structures.
Asunto(s)
Ectopía Cordis , Humanos , Ectopía Cordis/patología , Ectopía Cordis/complicaciones , Recién Nacido , Resultado Fatal , Síndrome del Corazón Izquierdo Hipoplásico/complicaciones , Femenino , Masculino , Recien Nacido PrematuroRESUMEN
A relatively healthy male patient in his 60s presented with chest pain and shortness of breath in addition to a history of significant weight loss over the preceding months. He was admitted to the hospital and investigated with a CT pulmonary angiogram, which did not demonstrate a pulmonary embolus, but he subsequently went on to have an ultrasound and CT scan because of abnormal findings. His CT demonstrated some thickening of the mid-transverse colon, and, in addition, large volume liver metastases described as innumerable and probably replacing most of the liver.Initially, his liver function tests were only mildly deranged at the presentation. Flexible sigmoidoscopy was performed, and a transverse colonic malignancy was identified and biopsied, which demonstrated an extrapulmonary small cell carcinoma (EPSCC). He was admitted for urgent chemotherapy for newly diagnosed metastatic small-cell colonic cancer; he developed tumour lysis syndrome following his first dose of chemotherapy. He continued to decline following this and died soon after his admission. Metastatic small-cell colonic cancer is a rare diagnosis which is challenging to manage due to the lack of trial evidence to drive treatment strategies. The management largely follows the pulmonary small cell cancer pathway. We, therefore, present a colonic EPSCC case outlining the diagnostic and treatment strategies for this disease.
Asunto(s)
Carcinoma de Células Pequeñas , Neoplasias Hepáticas , Humanos , Masculino , Resultado Fatal , Neoplasias Hepáticas/secundario , Neoplasias Hepáticas/patología , Carcinoma de Células Pequeñas/patología , Carcinoma de Células Pequeñas/diagnóstico , Carcinoma de Células Pequeñas/secundario , Carcinoma de Células Pequeñas/complicaciones , Persona de Mediana Edad , Tomografía Computarizada por Rayos X , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/secundario , Neoplasias Pulmonares/diagnóstico , Neoplasias Colorrectales/patología , Neoplasias del Colon/patologíaRESUMEN
Two cases of neonatal splenic hemorrhage with acute cardiorespiratory failure are described in this report. The first case involves a full-term neonate who was found unresponsive without any witnesses and could not be successfully resuscitated. A postmortem diagnosis revealed a splenic hemorrhage. Second case is an extremely premature neonate who experienced a witnessed cardiovascular collapse on the 14th day of life. Rapid cardiovascular support was administered, resulting in a positive outcome. While splenic hemorrhage is commonly associated with traumatic events, these cases highlight the need of considering spontaneous splenic hemorrhages as a potential cause of acute neonatal compromise, even in the absence of birth-related trauma (e.g., asphyxia, prolonged labor, clavicle fractures, brachial plexus injuries). This report emphasizes the importance of including splenic hemorrhage timely in the differential diagnosis of neonatal cardiorespiratory instability, especially in the absence of more common diagnoses, and discusses the challenges associated with its recognition and treatment.
Asunto(s)
Hemorragia , Humanos , Recién Nacido , Resultado Fatal , Hemorragia/etiología , Hemorragia/diagnóstico , Masculino , Enfermedades del Bazo/complicaciones , Enfermedades del Bazo/etiología , Femenino , Recien Nacido Extremadamente Prematuro , Insuficiencia Cardíaca/etiología , Insuficiencia Cardíaca/complicaciones , Insuficiencia Respiratoria/etiologíaRESUMEN
Catatrophic antiphospholipid syndrome (CAPS), a rare variant of antiphospholipid syndrome (APS), is associated with rapid multiorgan failure. While APS is associated with single medium-to-large blood vessel occlusions, CAPS is most often associated with several, concurrent vascular occlusions of small vessels, commonly of the kidneys, heart, skin and brain. We present a case of a 21-year-old female patient with a history of immune thrombocytopenia purpura and APS, who eventually developed concurrent cerebral venous sinus thrombosis, diffuse alveolar haemorrhage, renal thrombotic microangiopathy, and a necrotic, vasculitic wound on her forearm. Despite hospitalisation and treatment, her condition worsened and the patient eventually died after succumbing to suspected CAPS.
Asunto(s)
Síndrome Antifosfolípido , Humanos , Síndrome Antifosfolípido/complicaciones , Femenino , Adulto Joven , Resultado Fatal , Enfermedad Catastrófica , Trombosis de los Senos Intracraneales/etiología , Trombosis de los Senos Intracraneales/tratamiento farmacológico , Trombosis de los Senos Intracraneales/terapia , Microangiopatías Trombóticas/etiología , Púrpura Trombocitopénica Idiopática/terapia , Púrpura Trombocitopénica Idiopática/complicaciones , Púrpura Trombocitopénica Idiopática/diagnósticoRESUMEN
Paediatric acute liver failure (PALF) is a rare yet severe condition that is associated with high mortality. Apart from liver transplant, no specific therapy exists, particularly in developing countries. Evidence suggests that removal of damage-associated molecular patterns, cytokines, toxins, and other metabolites that accumulate due to impaired liver function can enhance natural recovery. Plasmapheresis can be used to remove these products; however, there is limited evidence to support this approach. This case series discusses three critically ill patients with acute liver failure who underwent plasmapheresis. The patients included a seven-year-old boy (Case 1), a 17-year-old boy (Case 2), and a 16-monthold boy (Case 3). Two patients showed significant improvement in bilirubin level, coagulation profile, inotropes requirement, and Glasgow coma scale score. Unfortunately, one patient with PALF, complicated with multi-organ dysfunction, died due to refractory shock on the fourth day of hospitalisation. Our findings illustrate that early use of therapeutic plasmapheresis in PALF can lead to improvement in clinical outcome. It may serve as a bridging therapy for liver transplant and for the spontaneous regeneration of the patient's liver.
Asunto(s)
Fallo Hepático Agudo , Plasmaféresis , Humanos , Plasmaféresis/métodos , Masculino , Fallo Hepático Agudo/terapia , Adolescente , Niño , Lactante , Resultado Fatal , Resultado del TratamientoRESUMEN
Cerebral vasculitis is a rare but severe complication of Systemic Lupus Erythematosus (SLE), presenting significant challenges in management due to its potential for devastating neurological consequences and poor prognosis. We present a case of an 18-year-old female with known SLE who presented with seizures, declining cognitive function, and unresponsiveness. Neurological examination, laboratory investigations, and radiological imaging supported the diagnosis of cerebral vasculitis secondary to SLE. Despite aggressive immunosuppressive therapy, the patient's neurological status continued to deteriorate, leading to respiratory failure and multiorgan dysfunction. Ultimately, the patient succumbed to multiorgan failure attributed to severe CNS vasculitis and its complications. This case underscores the importance of early recognition and aggressive management of cerebral vasculitis in SLE while highlighting the need for further research into more effective therapeutic strategies to improve patient outcomes.
Asunto(s)
Lupus Eritematoso Sistémico , Vasculitis del Sistema Nervioso Central , Humanos , Femenino , Adolescente , Lupus Eritematoso Sistémico/complicaciones , Vasculitis del Sistema Nervioso Central/etiología , Vasculitis del Sistema Nervioso Central/complicaciones , Resultado FatalRESUMEN
Mycobacterium abscessus complex (MAbc) is a rapidly growing nontuberculous mycobacterium that represents an increasingly prevalent cause of skin infections. This report describes an atypical presentation of MAbc to heighten physician awareness of the pathogen. A 69-year-old woman with immunocompromised status presented with a 4-month history of a solitary, nonhealing ulcer on her right lower extremity after an insect bite. After no improvement following oral amoxicillin/clavulanate and topical mupirocin for the initial diagnosis of cellulitis, biopsy and culture of the lesion revealed MAbc. Microscopic examination revealed reactive cutaneous inflammation without evidence of malignancy. Acid-fast bacteria (AFB) stain was negative, and no granulomas were noted histologically. Clarithromycin and doxycycline were initiated while awaiting susceptibility testing results. Final culture showed MAbc sensitive to amikacin, cefoxitin, and clarithromycin. Unfortunately, before antibiotic therapy could be modified, the patient died. The presentation of a solitary lower-extremity ulcer is rare compared with current literature. This case occurred after a suspected insect bite rather than instrumentation. In addition, this case demonstrated negative AFB stain and absence of granulomas on histologic analysis. The patient's death did not allow for evaluation of treatment efficacy. Existing literature characterizing MAbc is sparse. Most cases present as multiple papules, nodules, and abscesses with positive AFB staining and granulomas; it is possible for deviations to exist depending on host immune status. Considering the highly drug-resistant nature of M abscessus, prompt diagnosis and treatment are crucial. For this to occur, clinicians must maintain high clinical suspicion for M abscessus infection in any chronic, nonhealing wound failing to respond to initial treatment.
Asunto(s)
Huésped Inmunocomprometido , Infecciones por Mycobacterium no Tuberculosas , Mycobacterium abscessus , Humanos , Anciano , Femenino , Infecciones por Mycobacterium no Tuberculosas/diagnóstico , Infecciones por Mycobacterium no Tuberculosas/tratamiento farmacológico , Mycobacterium abscessus/aislamiento & purificación , Enfermedades Cutáneas Bacterianas/diagnóstico , Enfermedades Cutáneas Bacterianas/microbiología , Enfermedades Cutáneas Bacterianas/tratamiento farmacológico , Resultado Fatal , Antibacterianos/uso terapéuticoRESUMEN
Coronavirus disease (COVID-19), which broke out in China and caused a devastating pandemic worldwide, is associated with a significantly increased risk of thrombotic complications, especially pulmonary embolism. During the COVID-19 pandemic, investigations have reported a high incidence of venous thromboembolic (VTE) events in hospitalized patients with COVID-19, often despite thromboprophylaxis. Current recommendations for thromboprophylaxis are based on randomized clinical trials, which usually exclude patients at а potentially high risk of hemorrhagic complications. This category includes patients with liver cirrhosis complicated by variceal bleeding, thrombocytopenia, and coagulopathy. We present three patients who suffered severe covid pneumonia and were hospitalized with acute variceal bleeding, who developed fatal thromboembolic complications in the postoperative period.
Asunto(s)
COVID-19 , Hemorragia Gastrointestinal , Cirrosis Hepática , Complicaciones Posoperatorias , Humanos , COVID-19/complicaciones , Várices Esofágicas y Gástricas/etiología , Resultado Fatal , Hemorragia Gastrointestinal/etiología , Cirrosis Hepática/complicaciones , Cirrosis Hepática/cirugía , Complicaciones Posoperatorias/etiología , SARS-CoV-2 , Tromboembolia Venosa/etiologíaRESUMEN
A 72-year-old woman with relapsed FLT3-ITD-positive acute myeloid leukemia was treated with gilteritinib and achieved complete remission with incomplete hematological recovery. However, two months later, she developed optic nerve infiltration and lost vision in her right eye while maintaining hematological remission on gilteritinib. Intrathecal injection of cytotoxic drugs reduced the number of blasts in the cerebrospinal fluid (CSF), but her vision did not recover. At the onset of optic nerve infiltration, at a dose of 80 mg/day gilteritinib, the plasma trough and CSF levels of gilteritinib were 151.9 ng/ml and 1.9 ng/ml, respectively, with a central nervous system (CNS) penetration rate of 1.3%. Hematologic progressive disease (PD) was detected after 40 days, and the patient died one month later. Target sequencing at the time of hematologic PD revealed the FLT3 F691L mutation, which is known to confer resistance to gilteritinib. In this patient, pharmacokinetic (low CNS penetration of gilteritinib) and pharmacodynamic (acquisition of a drug resistance mutation) mechanisms were thought to be responsible for the CNS relapse and hematologic PD, respectively. We believe this is a valuable case to report considering the scarcity of data on CNS penetration of FLT3 inhibitors and their effects on CNS disease in the literature.
Asunto(s)
Compuestos de Anilina , Leucemia Mieloide Aguda , Pirazinas , Recurrencia , Tirosina Quinasa 3 Similar a fms , Humanos , Tirosina Quinasa 3 Similar a fms/genética , Leucemia Mieloide Aguda/tratamiento farmacológico , Pirazinas/administración & dosificación , Pirazinas/uso terapéutico , Anciano , Femenino , Compuestos de Anilina/uso terapéutico , Compuestos de Anilina/administración & dosificación , Tiofenos/administración & dosificación , Tiofenos/uso terapéutico , Nervio Óptico/patología , Mutación , Resultado FatalRESUMEN
BACKGROUND: Nonalcoholic steatohepatitis (NASH) is an important etiology of hepatocellular carcinoma (HCC), and there is no established therapy for this syndrome. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor (ROHHAD(NET)) is an extremely rare syndrome considered to be life-threatening, with death occurring around 10 years of age. We present the oldest known autopsy case of this syndrome that developed HCC. This case provided important information on not only improving the course of this syndrome, but also understanding the natural history and therapeutic modalities of NASH and HCC. METHODS: The patient was diagnosed with ROHHAD(NET) syndrome in childhood, and liver cirrhosis due to NASH was diagnosed at age 17. HCC was detected at age 20, and embolization and irradiation were performed. At age 21, she died from accidental acute pancreatitis and subsequent liver failure and pulmonary hemorrhage. RESULTS: Rapid onset of obesity, hypoventilation, and hypothalamic disturbance appeared in childhood and was diagnosed as this syndrome. At age 17, liver cirrhosis due to NASH was diagnosed by liver biopsy, and at age 20, HCC was diagnosed by imaging. Transarterial chemoembolization and irradiation were performed, and the HCC was well controlled for a year. CONCLUSION: At age 21, she died from accidental acute pancreatitis, subsequent liver failure and pulmonary hemorrhage. Autopsy revealed that the HCC was mostly necrotized. This case was valuable not only for other ROHHAD(NET) syndrome cases, but also in improving our understanding of the natural history of NASH and HCC.
Asunto(s)
Autopsia , Carcinoma Hepatocelular , Enfermedades Hipotalámicas , Hipoventilación , Neoplasias Hepáticas , Enfermedad del Hígado Graso no Alcohólico , Humanos , Femenino , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/complicaciones , Neoplasias Hepáticas/terapia , Carcinoma Hepatocelular/patología , Carcinoma Hepatocelular/complicaciones , Carcinoma Hepatocelular/terapia , Hipoventilación/etiología , Hipoventilación/complicaciones , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Enfermedad del Hígado Graso no Alcohólico/patología , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/diagnóstico , Obesidad/complicaciones , Tumores Neuroendocrinos/complicaciones , Tumores Neuroendocrinos/patología , Tumores Neuroendocrinos/terapia , Resultado Fatal , Adulto Joven , Enfermedades del Sistema Nervioso Autónomo/etiología , SíndromeRESUMEN
Group A-streptococcal (GAS) infection can lead to various clinical presentations and is fulminant when it reaches the deep tissues, leading to a high morbidity and mortality. The severity of postpartum GAS infections is widely known. In this case report we describe the course of disease in a pregnant patient with GAS toxic shock syndrome with initial complaints of abdominal pain, diarrhea and fetal demise at first presentation. Within 10 hours this patient died. It is important to stay vigilant for a fulminant GAS infection in pregnant patients, to recognize it quickly and treat it adequately.
Asunto(s)
Complicaciones Infecciosas del Embarazo , Choque Séptico , Infecciones Estreptocócicas , Streptococcus pyogenes , Humanos , Embarazo , Femenino , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/microbiología , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/tratamiento farmacológico , Infecciones Estreptocócicas/complicaciones , Streptococcus pyogenes/aislamiento & purificación , Resultado Fatal , Adulto , Choque Séptico/microbiología , Muerte FetalRESUMEN
BACKGROUND: Group A Streptococcus causes a variety of human infections, including the life-threatening necrotizing fasciitis, which may be ignored by the patient. From hours to days, the infection may progress from an apparently benign skin lesion, usually mistaken for a spider or insect bite, to a highly lethal disease. We present a case of 57-year-old male with skin lesions on swelling left upper limb. METHODS AND RESULTS: The culture of secretion from epidermis and blood were positive for Group A Streptococcus (GAS), type ß hemolytic streptococcus. Intensive anti-infection therapy was applied. However, the necrosis of the limb deteriorated rapidly. He died from multiple organ failure, streptococcal toxic shock syndrome (STSS) and disseminated intravascular coagulation 13 days later. CONCLUSIONS: Necrotizing fasciitis is a rapidly progressive, destructive bacterial infection. Early recognition is the most important factor for survival.
Asunto(s)
Fascitis Necrotizante , Choque Séptico , Infecciones Estreptocócicas , Streptococcus pyogenes , Fascitis Necrotizante/diagnóstico , Fascitis Necrotizante/microbiología , Humanos , Masculino , Persona de Mediana Edad , Streptococcus pyogenes/aislamiento & purificación , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/microbiología , Infecciones Estreptocócicas/tratamiento farmacológico , Resultado Fatal , Choque Séptico/microbiología , Choque Séptico/diagnóstico , Insuficiencia Multiorgánica/diagnóstico , Insuficiencia Multiorgánica/etiología , Insuficiencia Multiorgánica/microbiología , Antibacterianos/uso terapéutico , Coagulación Intravascular Diseminada/diagnóstico , Coagulación Intravascular Diseminada/microbiología , Coagulación Intravascular Diseminada/etiologíaRESUMEN
BACKGROUND: Glioblastoma is a highly malignant disease with limited treatment options. Ibrutinib, a covalent Bruton tyrosine kinase inhibitor, is an oral agent with manageable side effects used for hematological diseases including Waldenström macroglobulinemia. We present the case of a 69-year-old Caucasian male patient treated with ibrutinib for suspected Bing-Neel syndrome (BNS), which following a biopsy, was reclassified as glioblastoma. CASE PRESENTATION: In December 2018, a 69-year-old Caucasian male patient was diagnosed with Waldenström macroglobulinemia. As the patient was asymptomatic, without bone marrow failure or high M-component count, watchful waiting was initiated. Due to increasing neurological symptoms, the patient, based on magnetic resonance imaging, was diagnosed with Bing-Neel syndrome in May 2019. The patient received different treatments before starting ibrutinib monotherapy in August 2019 due to disease progression, both on magnetic resonance imaging and clinically. The patient remained clinically stable for 7 months. In March 2020, the patient developed headaches, and both magnetic resonance imaging and a biopsy revealed glioblastoma IDH-wildtype. Treatment was changed in line with the new diagnosis, but the patient died at the end of 2020. CONCLUSION: We present a case in which a patient with glioblastoma IDH-wildtype remained clinically stable for 7 months when treated with ibrutinib monotherapy, which is similar to what would be expected for the standard treatment for glioblastoma. To our knowledge, this is the first patient receiving ibrutinib for a glioblastoma IDH-wildtype with a meaningful clinical outcome. Our case may therefore support previous nonclinical findings, indicating a therapeutic value of ibrutinib in patients with glioblastoma and support for further investigation of ibrutinib as a possible treatment for glioblastoma.
Asunto(s)
Adenina , Glioblastoma , Imagen por Resonancia Magnética , Piperidinas , Macroglobulinemia de Waldenström , Humanos , Adenina/análogos & derivados , Adenina/uso terapéutico , Masculino , Glioblastoma/tratamiento farmacológico , Glioblastoma/patología , Anciano , Piperidinas/uso terapéutico , Macroglobulinemia de Waldenström/tratamiento farmacológico , Resultado Fatal , Neoplasias Encefálicas/tratamiento farmacológico , Neoplasias Encefálicas/secundario , Inhibidores de Proteínas Quinasas/uso terapéuticoRESUMEN
An 84-year-old woman underwent laparoscopic partial hepatectomy for a single 3.0-cm-diameter nodule of hepatocellular carcinoma at segment 5. Although the postoperative condition was uneventful, multiple recurrences were observed six months after hepatic resection. Transcatheter arterial chemoembolization (TACE) was the second-line therapy. However, she was later diagnosed as TACE refractory due to residual tumor and presence of portal vein tumor thrombus. Third-line therapy was the combination of atezolizumab and bevacizumab, which was discontinued after 22 courses due to disease progression. Two months after the conclusion of chemotherapy, sudden onset of purpura was observed around her eyes and on her lower legs. Laboratory tests revealed severe thrombocytopenia, and she was diagnosed with secondary immune thrombocytopenic purpura. Steroids and immunoglobulin therapy were then administered. Although the immature platelet fraction increased after treatment, the platelet count did not. The patient died of intracranial hemorrhage 10 days after initiation of steroid and immunoglobulin therapy.
Asunto(s)
Anticuerpos Monoclonales Humanizados , Bevacizumab , Carcinoma Hepatocelular , Neoplasias Hepáticas , Púrpura Trombocitopénica Idiopática , Humanos , Femenino , Neoplasias Hepáticas/tratamiento farmacológico , Anciano de 80 o más Años , Bevacizumab/administración & dosificación , Bevacizumab/efectos adversos , Anticuerpos Monoclonales Humanizados/efectos adversos , Anticuerpos Monoclonales Humanizados/administración & dosificación , Carcinoma Hepatocelular/tratamiento farmacológico , Resultado Fatal , Hemorragias Intracraneales/inducido químicamente , Hemorragias Intracraneales/etiología , Hemorragias Intracraneales/diagnóstico por imagen , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversosRESUMEN
Multidrug therapy has significantly reduced the global burden of Hansen's disease; however, complications from long-term treatment persist. A male resident of southern Kentucky, in his 30s and of Micronesian descent, presented with worsening abdominal pain associated with anorexia, fatigue, functional decline and occasional haemoptysis. He was compliant with multidrug therapy for leprosy. Laboratory investigations revealed pancytopenia. He was initially treated under a sepsis protocol and later switched to high-dose steroids due to a suspected immune reaction from missed corticosteroid doses. Despite aggressive treatment for refractory pancytopenia, the patient's condition deteriorated, and he passed away from cardiac arrest. Posthumous bone marrow biopsy revealed haemophagocytic lymphohistiocytosis secondary to disseminated histoplasmosis with bone marrow infiltration. This case highlights the importance of proactive fungal screening in immunocompromised leprosy patients, particularly in endemic regions, as early detection and timely intervention can prevent severe complications.
Asunto(s)
Histoplasmosis , Linfohistiocitosis Hemofagocítica , Humanos , Linfohistiocitosis Hemofagocítica/diagnóstico , Linfohistiocitosis Hemofagocítica/tratamiento farmacológico , Linfohistiocitosis Hemofagocítica/etiología , Histoplasmosis/diagnóstico , Histoplasmosis/complicaciones , Histoplasmosis/tratamiento farmacológico , Masculino , Adulto , Resultado Fatal , Lepra/complicaciones , Lepra/diagnóstico , Lepra/tratamiento farmacológico , Huésped InmunocomprometidoRESUMEN
Familial hyperinsulinaemic hypoglycaemia-1 arises from mutations within the genes of pancreatic beta cells, resulting in unregulated insulin secretion from pancreatic beta cells. A 4.06 kg female neonate, born to a second-degree consanguineously married couple, presented with repeated asymptomatic hypoglycaemia. There was a significant history of a previous sibling's death from nesidioblastosis. Despite treatment with intravenous glucose, diazoxide, hydrochlorothiazide and octreotide, she continued to experience hypoglycaemic episodes. Despite efforts to manage sepsis, including antibiotics, antifungals and intravenous immunoglobulin/granulocyte-macrophage colony-stimulated factor, her condition worsened. She succumbed on day 34. This case underscores the complexities of managing congenital hyperinsulinaemic hypoglycaemia, especially in the context of concurrent infections and the need for multidisciplinary care. Early genetic diagnosis proved invaluable in facilitating timely and effective treatment. Furthermore, the genetic results enabled us to counsel the parents regarding the recurrence risk in subsequent pregnancies and the necessity for antenatal diagnosis.
Asunto(s)
Hiperinsulinismo Congénito , Receptores de Sulfonilureas , Humanos , Femenino , Recién Nacido , Receptores de Sulfonilureas/genética , Hiperinsulinismo Congénito/genética , Hiperinsulinismo Congénito/diagnóstico , Mutación , Resultado Fatal , Hipoglucemia/genética , Hipoglucemia/diagnóstico , Hipoglucemia/etiología , Diazóxido/uso terapéuticoRESUMEN
Acute mesenteric ischaemia (AMI) is a life-threatening gastrointestinal complication uncommonly described in premature infants. The diagnosis of AMI is challenging and may be delayed due to the limitation of accurate diagnostic imaging and non-specific clinical signs. Furthermore, AMI can be misdiagnosed as necrotising enterocolitis (NEC) due to the overlapping clinical and radiological features. Though known to be associated with high mortality rates, early recognition and intervention can improve the survival rates in infants with AMI. We describe a case of a premature infant who presented with an acute abdomen and haemodynamic collapse, initially treated for NEC but later diagnosed with AMI intraoperatively. Due to the extensive bowel necrosis, surgical intervention was rendered futile and the infant finally succumbed to the disease.
Asunto(s)
Enterocolitis Necrotizante , Recien Nacido Prematuro , Isquemia Mesentérica , Humanos , Enterocolitis Necrotizante/diagnóstico , Enterocolitis Necrotizante/cirugía , Isquemia Mesentérica/diagnóstico , Isquemia Mesentérica/cirugía , Isquemia Mesentérica/diagnóstico por imagen , Isquemia Mesentérica/etiología , Diagnóstico Diferencial , Recién Nacido , Resultado Fatal , Masculino , Enfermedades del Prematuro/diagnóstico , Abdomen Agudo/etiología , Enfermedad AgudaRESUMEN
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is an interstitial lung disease. In ACDMPV, respiratory impairment with severe pulmonary hypertension occurs from the early hours of life. Anomalies in the cardiovascular, gastrointestinal and genitourinary systems have been reported. However, little is known about upper airway abnormalities. We encountered a genetically diagnosed ACDMPV infant who presented with subglottic and bronchial stenosis. The prenatal diagnosis was hypoplastic left heart syndrome. Her respiratory condition worsened at 16 hours of life. We found subglottic stenosis when intubating. She died on day 7. Autopsy imaging with CT scan showed bilateral main bronchial stenosis. Chromosomal microarray revealed a 531 kb deletion in chromosome 16q24.1, including FOXF1.
Asunto(s)
Laringoestenosis , Síndrome de Circulación Fetal Persistente , Alveolos Pulmonares , Humanos , Femenino , Recién Nacido , Síndrome de Circulación Fetal Persistente/complicaciones , Síndrome de Circulación Fetal Persistente/genética , Laringoestenosis/etiología , Resultado Fatal , Alveolos Pulmonares/anomalías , Alveolos Pulmonares/patología , Constricción Patológica , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Factores de Transcripción ForkheadRESUMEN
The glomus tumor is a rare neoplasm that is typically found subungually in the extremities and functions as a specialized neurovascular organ. An extremely rare site for glomus tumors is the breast, with only a few reported cases. Breast glomus tumors present with three typical clinical signs: dull pain, focal tenderness, and cold sensitivity. Less than 10% of all glomus tumors are malignant. We herein present a case of a malignant glomus tumor originating in the breast. Distant metastasis was ruled out, and the tumor was completely resected. However, the patient unexpectedly developed rapid systemic metastasis, detected 5 weeks after tumor removal. Despite the administration of analgesics and targeted therapy, the patient died 1 month later. When treating patients with undiagnosed breast tumors, clinicians should pay attention to unexplained and repeatedly reported symptoms and consider the possibility of a rare disease. Our literature search revealed no cases of malignant glomus tumors originating in the breast, making this case the first of its kind.
Asunto(s)
Neoplasias de la Mama , Tumor Glómico , Humanos , Tumor Glómico/patología , Tumor Glómico/diagnóstico , Tumor Glómico/cirugía , Femenino , Neoplasias de la Mama/patología , Neoplasias de la Mama/cirugía , Neoplasias de la Mama/diagnóstico , Persona de Mediana Edad , Resultado Fatal , Progresión de la EnfermedadRESUMEN
BACKGROUND: Elephant endotheliotropic herpesvirus (EEHV) infection is the most common cause for lethal hemorrhagic disease in captive juvenile Asian elephants (Elephas maximus). Although EEHV1 is known as the most likely cause of fatal haemorrhagic disease in Asian elephants, EEHV5 was lately involved in lethal cases of haemorrhagic disease in captive elephants. CASE PRESENTATION: Here we report the first death of a four-year old Asian elephant diagnosed with EEHV5 in Germany. Molecular diagnosis yielded detection of EEHV5 DNA in all tested tissues. Histopathological examination revealed typical features of hemorrhagic disease in all examined organs. EEHV5 was sequenced from total DNA isolated from heart tissue by Illumina and Nanopore sequencing. Sequencing data showed 3,881 variants, distributed across the entire genome, compared to the published EEHV5 sequence. CONCLUSIONS: We have detected EEHV5 in a fatal disease case of a male Asian elephant. Whole genome sequencing revealed substantial differences of our DNA isolate compared to available EEHV5 sequences. This report of fatal haemorrhagic disease associated with EEHV5 infection should raise awareness for EEHV5 as an important elephant pathogen. Genome sequencing and downstream SNPs analysis will further encourage future research to understand genetic diversity, pathogenesis and virulence of EEHVs with respect to developing new diagnostic methods, prophylactic strategies, and implementation of surveillance and control measures.