RESUMO
A man in his 60s undergoing liver transplant assessment was referred to the respiratory team after a thoracic CT scan revealed diffuse tree-in-bud changes. He had a history of infertility, chronic pancreatitis and liver cirrhosis with portal hypertension. Broncho-alveolar lavage was positive for Pseudomonas aeruginosa Genetic screening found two cystic fibrosis transmembrane conductance regulator variants: Phe508del and Arg117His-7T. The patient was referred to the regional cystic fibrosis (CF) centre for follow-up but died from hepatobiliary complications. The atypical presentation with relatively late onset of pulmonary disease and hepatobiliary disease predominance created a diagnostic challenge. This case is a reminder that while CF is a monogenic disorder, its manifestation, natural history and extent can be highly variable. Taking a thorough medical history of any chronic illness is essential, and patients with the appropriate clinical presentation, regardless of age, should be investigated for CF.
Assuntos
Fibrose Cística , Infertilidade , Transplante de Fígado , Humanos , Masculino , Fibrose Cística/complicações , Fibrose Cística/genética , Fibrose Cística/diagnóstico , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Testes Genéticos , Infertilidade/complicações , Cirrose Hepática/complicações , Mutação , IdosoRESUMO
Although sarcoidosis is an established cause of multiorgan dysfunction, acute presentation with thrombotic microangiopathy resulting in severe renal and hematological sequelae has not been reported. We describe the case of a patient presenting with hypercalcemia, pancreatitis, and acute renal failure, followed by microangiopathic hemolytic anemia. Although there were no significant respiratory symptoms, thoracic radiology and mediastinal lymph node biopsy results were in keeping with sarcoidosis as the underlying cause of this multisystem presentation. Corticosteroids were commenced with clinical and biochemical improvement. This novel case highlights the need to consider sarcoidosis as part of the differential diagnosis for unusual multiorgan presentations and for early multidisciplinary involvement in such cases to permit optimal treatment.
Assuntos
Injúria Renal Aguda , Sarcoidose , Microangiopatias Trombóticas , Humanos , Microangiopatias Trombóticas/diagnóstico , Microangiopatias Trombóticas/etiologia , Rim , Injúria Renal Aguda/terapia , Biópsia/efeitos adversos , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/patologiaRESUMO
Tuberculosis remains a major global health issue affecting all countries and age groups. Radiology plays a crucial role in the diagnosis and management of pulmonary tuberculosis (PTB). This review aims to improve understanding and diagnostic value of imaging in PTB. We present the old, well-established findings ranging from primary TB to the common appearances of post-primary TB, including dissemination with tree-in-bud nodularity, haematogenous dissemination with miliary nodules and lymphatic dissemination. We discuss new concepts in active PTB with special focus on imaging findings in immunocompromised individuals. We illustrate PTB appearances borrowed from other diseases in which the signs were initially described: the reversed halo sign, the galaxy sign and the cluster sign. There are several radiological signs that have been shown to correlate with positive or negative sputum smears, and radiologists should be aware of these signs as they play an important role in guiding the need for isolation and empirical anti-tuberculous therapy.
RESUMO
Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services.
Assuntos
Pneumotórax , Humanos , Pneumotórax/diagnóstico por imagem , Pneumotórax/genética , Pneumotórax/terapia , Medicina de PrecisãoAssuntos
Infecções por Coronavirus/diagnóstico por imagem , Fígado Gorduroso/diagnóstico por imagem , Hemangioma/diagnóstico por imagem , Achados Incidentais , Neoplasias Hepáticas/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Neoplasias Primárias Múltiplas/diagnóstico por imagem , Pneumonia Viral/diagnóstico por imagem , COVID-19 , Teste para COVID-19 , Técnicas de Laboratório Clínico , Infecções por Coronavirus/diagnóstico , Imagem de Difusão por Ressonância Magnética , Fígado Gorduroso/complicações , Feminino , Hemangioma/complicações , Humanos , Neoplasias Hepáticas/complicações , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neoplasias Primárias Múltiplas/complicações , Pandemias , Pneumonia Viral/diagnóstico , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios XAssuntos
Encefalopatias/diagnóstico por imagem , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Sarcoidose/diagnóstico por imagem , Corticosteroides/uso terapêutico , Encefalopatias/tratamento farmacológico , Diagnóstico Diferencial , Humanos , Masculino , Pessoa de Meia-Idade , Sarcoidose/tratamento farmacológicoAssuntos
Aneurisma Intracraniano/diagnóstico por imagem , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Subaracnóidea/diagnóstico por imagem , Angiografia Cerebral , Diagnóstico Diferencial , Feminino , Escala de Coma de Glasgow , Humanos , Hipertensão Intracraniana/diagnóstico , Pessoa de Meia-Idade , Síndrome , Tomografia Computadorizada por Raios XRESUMO
Neurocysticercosis is a parasitic neurological infection caused by the ingestion of larvae from the adult tapeworm Taenia solium. We describe a man who presented with generalised tonic-clonic seizures. He had been previously diagnosed with epilepsy in Malawi, where he had emigrated from 2 years before this episode. An MRI was performed to further investigate the cause of his seizures, as no previous imaging had been performed. His initial MRI showed multiple characteristic cystic lesions in keeping with neurocysticercosis.
Assuntos
Encéfalo/patologia , Neurocisticercose/diagnóstico , Neuroimagem/métodos , Animais , Humanos , Masculino , Taenia/patogenicidade , Adulto JovemRESUMO
Three patients (2 women) 36, 45, and 49 years of age underwent cardiac transplantation for what was diagnosed clinically as nonischemic dilated cardiomyopathy. Examination of the transthoracic echocardiogram and explanted heart in each disclosed marked hypertrabeculation involving the free wall of the very dilated left ventricle, a finding consistent with what has been termed "isolated ventricular noncompaction" (IVNC). Although these 3 cases anatomically fulfilled the echocardiographic definition of IVNC, review of previous publications containing gross photographs of the heart suggests that IVNC is overdiagnosed at least morphologically.