RESUMEN
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic disease with no recognizable pattern of transmission. Sporadic CJD (sCJD) can present with rapid cognitive and functional decline, memory deficits, myoclonus, pyramidal and extrapyramidal signs, and visual deficits. The large spectrum of phenotypic variability has made the recognition of prion diseases difficult, and given the rare incidence, it is not uncommon for it to be missed as a potential diagnosis. We present a highly unusual case of a 76-year-old woman with rapidly progressive sCJD who died within five weeks of presentation. Our case demonstrates a typical sequence of symptoms, with rapidly progressive dementia and cerebellar signs at disease onset and myoclonus later in the disease course.
RESUMEN
Thyrotoxic periodic paralysis is a life-threatening complication characterized by acute paralysis of proximal muscles with severe hypokalemia in patients with a known or undiagnosed history of thyrotoxicosis. A 24-year-old man was brought to the emergency room with 1 month of progressively worsening lower-extremity weakness followed by urinary retention. He demonstrated severe motor weakness in proximal muscles with absent reflexes. Laboratory testing showed a dangerously low potassium of 1.3 mmol/L. Further testing to establish an etiology revealed a new diagnosis of thyrotoxicosis, and the patient was also started on the antithyroid medication methimazole and propranolol. Immediate oral and intravenous potassium supplementation was initiated to normalize the serum potassium levels to 4.7 mmol/L; that was followed by the gradual recovery of his motor function. This case report highlights the need for early consideration of endocrine and metabolic causes of acute flaccid paralysis.
RESUMEN
Elevated ammonia levels lead to cerebral edema, encephalopathy, seizures, coma, and death. Hyperammonemia is primarily associated with liver disease; however, there are rare cases without liver disease. Noncirrhotic hyperammonemia is primarily due to increased production and/or decreased elimination of ammonia. We present a rare case of a 35-year-old female with severe acute noncirrhotic hyperammonemia associated with gram-negative septic shock and a suspected undiagnosed partial urea cycle enzyme deficiency. She had elevated blood and urine amino acid levels speculated to be due to an underlying urea cycle defect, which was unmasked in the setting of septic shock with urea splitting bacteria leading to severely elevated ammonia levels. Ammonia levels were rapidly corrected with hemodialysis, as other conventional treatments failed. We highlight the importance of considering noncirrhotic causes of hyperammonemia in patients with elevated ammonia levels and intact liver function. Prompt treatment should begin with reducing the catabolic state, nitrogen scavenging, replacing urea cycle substrates, decreasing intestinal absorption, and augmented removal of ammonia with renal replacement therapy.
Asunto(s)
Hiperamonemia , Hepatopatías , Choque Séptico , Adulto , Amoníaco/metabolismo , Femenino , Humanos , Hiperamonemia/complicaciones , Hiperamonemia/terapia , Hepatopatías/complicaciones , Choque Séptico/complicaciones , Choque Séptico/terapia , Urea/metabolismoRESUMEN
Sarcoidosis is a systemic inflammatory disease of unknown etiology with a myriad of clinical presentations depending on the organ systems involved. Neurosarcoidosis is an uncommon entity which is characterized by non-caseating granuloma infiltration of the central nervous system. Dysphagia in sarcoidosis is even more uncommon, and can involve one or more pathophysiological mechanisms: central nervous system involvement (cranial nerves associated with swallowing), lower motor neuron involvement (invasion of the enteric nervous plexus), direct muscle infiltration (invasion of the skeletal muscle portion of the esophagus and posterior pharynx), or mechanical obstruction (extrinsic compression by mediastinal lymph nodes). We report a case of a middle-aged woman presenting with severe dysphagia due to neurosarcoidosis which markedly improved after starting corticosteroids. The purpose of this case report is to highlight an atypical presentation of this disease.
RESUMEN
Coronavirus disease 2019 (COVID-19) presented in December 2019 and has persisted since. The global pandemic has given rise to a novel acute disease process with a continually rapidly increasing prevalence of chronic disease and associated complications. There is minimal information on the long-term pulmonary complications of this disease. We present a series of 9 patient case reports and their respective imaging admitted with COVID-19 acute respiratory distress syndrome (ARDS) to highlight the cystic lung disease complications which may arise due to severity and disease progression. Our aim is to raise awareness of the sequela of COVID-19 ARDS, including its potentially catastrophic long-term consequences to the respiratory tract involving cystic lung disease.
Asunto(s)
COVID-19 , Síndrome de Dificultad Respiratoria , COVID-19/complicaciones , Progresión de la Enfermedad , Humanos , Síndrome de Dificultad Respiratoria/etiologíaRESUMEN
Severe acute respiratory syndrome coronavirus-2 infection (SARS-CoV-2), commonly known as COVID-19 (coronavirus disease-2019), began in the Wuhan District of Hubei Province, China. It is regarded as one of the worst pandemics, which has consumed both human lives and the world economy. COVID-19 infection mainly affects the lungs triggering severe hypoxemic respiratory failure, also providing a nidus for superimposed bacterial and fungal infections. We report the case of a 73-year-old male who presented with progressive dyspnea; diagnosed with SARS-CoV-2-related severe acute respiratory distress syndrome and complicated with lung cavitations growing Aspergillus sp. COVID-19, to our knowledge, has rarely been associated with subacute invasive pulmonary aspergillosis with aspergillomas. Subacute invasive pulmonary aspergillosis as a superimposed infection in patients with SARS-CoV-2 is a rare entity. By reporting this case, we would like to make the readers aware of this association.
Asunto(s)
Betacoronavirus , Infecciones por Coronavirus/complicaciones , Aspergilosis Pulmonar Invasiva/etiología , Neumonía Viral/complicaciones , Enfermedad Aguda , Anciano , Antifúngicos/uso terapéutico , Aspergillus/aislamiento & purificación , COVID-19 , Infecciones por Coronavirus/diagnóstico , Infecciones por Coronavirus/epidemiología , Diagnóstico Diferencial , Humanos , Aspergilosis Pulmonar Invasiva/diagnóstico , Aspergilosis Pulmonar Invasiva/tratamiento farmacológico , Masculino , Pandemias , Neumonía Viral/diagnóstico , Neumonía Viral/epidemiología , Radiografía Torácica , SARS-CoV-2 , Tomografía Computarizada por Rayos XAsunto(s)
Insuficiencia Cardíaca/tratamiento farmacológico , Inhibidores de Agregación Plaquetaria/efectos adversos , Trombocitopenia/inducido químicamente , Tirofibán/efectos adversos , Anciano , Insuficiencia Cardíaca/sangre , Humanos , Infusiones Intravenosas , Masculino , Inhibidores de Agregación Plaquetaria/administración & dosificación , Recuento de Plaquetas , Trombocitopenia/sangre , Trombocitopenia/diagnóstico , Tirofibán/administración & dosificaciónAsunto(s)
Colitis Isquémica/inducido químicamente , Mucosa Intestinal/efectos de los fármacos , Descongestionantes Nasales/efectos adversos , Obstrucción Nasal/tratamiento farmacológico , Seudoefedrina/efectos adversos , Biopsia , Colitis Isquémica/diagnóstico , Colitis Isquémica/tratamiento farmacológico , Colitis Isquémica/patología , Colon/diagnóstico por imagen , Colon/efectos de los fármacos , Colon/patología , Colonoscopía , Femenino , Humanos , Mucosa Intestinal/diagnóstico por imagen , Mucosa Intestinal/patología , Persona de Mediana Edad , Morfina/uso terapéutico , Pantoprazol/uso terapéutico , Inhibidores de la Bomba de Protones/uso terapéutico , Tomografía Computarizada por Rayos XRESUMEN
A 44-year-old woman presented with progressively worsening neurological symptoms of 1 week duration. Physical examination revealed absent reflexes of the lower extremities and proximal muscle weakness, bilaterally. Cerebrospinal fluid analysis and electrophysiological studies were consistent with the diagnosis of Guillain-Barré syndrome (GBS) and the patient was started on intravenous immunoglobulin infusion. Along with positive neurological findings, rheumatological work up revealed elevated antinuclear antibody titres, positive double-stranded DNA and anti-Smith antibodies. These results, in conjunction with positive clinical findings, confirmed an underlying diagnosis of systemic lupus erythematosus (SLE). The patient's hospital course was complicated by an episode of severe left upper quadrant abdominal pain, fever, tachycardia and elevated inflammatory markers. CT scan of the abdomen revealed a splenic infarct following completion of IVIg infusion, making this a contributor to thrombus formation in the setting of an already thrombophilic state, and a rare complication of an approved method of treatment.