RESUMEN
Familial hypokalaemic periodic paralysis (FHPP) is a rare neuromuscular disorder that is classified under periodic paralysis (PP), which is characterised by episodes of muscle weakness. Common triggers include intense exercise, fasting or consumption of carbohydrate-rich meals. Hypokalaemic PP has an incidence of 1 in 100 000; despite the temporal association, cardiac manifestations are exceedingly rare. We present a case of FHPP, a channelopathy presenting with severe refractory hypokalaemia. The challenges with our patient were maintaining potassium levels within normal ranges and initiating a close follow-up plan. Due to the lack of clinical guidance in our case, many aspects of care, including surveillance, medications and genetic testing, remain unaddressed. Medical management includes aggressive correction with supplements, potassium-sparing diuretics and carbonic anhydrase inhibitors. Severe cases of dysrhythmias, especially ventricular fibrillation, require electrophysiology evaluation and possible implantation of a defibrillator to prevent sudden cardiac death.
Asunto(s)
Hipopotasemia , Parálisis Periódica Hipopotasémica , Inhibidores de Anhidrasa Carbónica , Pruebas Genéticas , Humanos , Hipopotasemia/etiología , Parálisis Periódica Hipopotasémica/diagnóstico , Parálisis Periódica Hipopotasémica/tratamiento farmacológico , Parálisis Periódica Hipopotasémica/etiología , Parálisis , PotasioRESUMEN
Acute oesophageal necrosis, black oesophagus (BE) or Gurvits syndrome (GS) is a rare form of severe oesophagitis appearing as a striking circumferential discolouration of distal mucosa with various proximal extensions abruptly terminating at the gastro-oesophageal junction. It is most commonly associated with acute exacerbations of medical comorbidities, while associations with altered gut anatomy are rare. We present a unique constellation of BE, Cameron ulcers (CU), and gastric volvulus from a large paraesophageal hiatal hernia. Our patient recently recovered from COVID-19 and was malnourished and frail, while the expanding paraesophageal hiatal hernia turned into an acute organoaxial gastric volvulus with accompanying outlet obstruction. In low-flow post-COVID coagulopathic states, compensatory mechanisms may lack against gastric stunning and sudden massive reflux on the oesophagus. We additionally performed a systematic review and discovered additional cases with coexistent volvulus and paraesophageal hernia, although there are no previous reports of BE with CU, which makes this study the first.
Asunto(s)
COVID-19 , Esofagitis Péptica , Hernia Hiatal , Vólvulo Gástrico , Unión Esofagogástrica , Hernia Hiatal/complicaciones , Hernia Hiatal/diagnóstico por imagen , Humanos , SARS-CoV-2 , Vólvulo Gástrico/complicaciones , Vólvulo Gástrico/diagnóstico por imagen , Vólvulo Gástrico/cirugíaRESUMEN
Gastric and oesophageal variceal bleeding poses high morbidity and mortality in cirrhosis. Amongst all types, isolated gastric varices (IGV) carry the highest propensity to bleed. Successful outcomes combine endoscopic and interventional radiology approaches using ligation, coils, glue or sclerosants. Transjugular intrahepatic portosystemic shunt success is only seen in a subset of patients, while balloon-retrograde transvenous obliteration (BRTO) has demonstrated high efficacy in preventing rebleeding and morbidity in patients with a myriad of anatomies and shunts. The American Association for the Study of Liver disease guidelines do not favour any particular modality; however, recent trials and meta-analyses support BRTO as the first-line therapy. Despite promising results, BRTO adoption is limited by procedural time, patient length-of-stay and equipment compatibilities hindering scalability in academic and community settings. To address these concerns, we present a successfully treated case of IGV with a revised technique called accelerated BRTO.
Asunto(s)
Oclusión con Balón , Várices Esofágicas y Gástricas , Derivación Portosistémica Intrahepática Transyugular , Várices Esofágicas y Gástricas/complicaciones , Várices Esofágicas y Gástricas/terapia , Hemorragia Gastrointestinal/terapia , Humanos , Resultado del TratamientoRESUMEN
A 32-year-old woman who misused multiple substances, including nitrous oxide (N2O), sought medical advice after she subacutely developed bilateral lower extremity weakness without a sensory level but with ataxia-her significant other developed similar symptoms with vitamin B12 deficiency due to N2O intake. Laboratory results revealed macrocytic anaemia despite normal B12 and folate levels, with serum markers pointing towards functional cobalamin deficiency. Spinal MRIs and cerebrospinal fluid analysis were unremarkable. Our patient was treated with vitamin B12 supplementation with an encouraging response.
Asunto(s)
Óxido Nitroso , Deficiencia de Vitamina B 12 , Adulto , Femenino , Ácido Fólico , Humanos , Vitamina B 12 , Deficiencia de Vitamina B 12/complicaciones , Deficiencia de Vitamina B 12/tratamiento farmacológico , VitaminasRESUMEN
Serratia marcescens, time and again, has demonstrated its ability to easily adhere and infect vascular access catheters, making them a bona fide source of hospital outbreaks and contributing to adverse patient outcomes. We present a unique case of a severe recurrent Serratia infection, leading to persistent bacteria in the blood, haematogenous dissemination and subsequent development of abscesses, to a degree not reported in the literature before. These infections are exceedingly challenging to eradicate, owing to multiple virulence mechanisms and the deep seeding ability of this microorganism. Serratia infections require a multifaceted approach with intricacies in identification, therapeutics and surveillance, all of which are sparsely reported in the literature and reviewed in this report.
Asunto(s)
Infección Hospitalaria , Infecciones por Serratia , Catéteres , Brotes de Enfermedades , Humanos , Infecciones por Serratia/diagnóstico , Infecciones por Serratia/tratamiento farmacológico , Serratia marcescensRESUMEN
COVID-19 is well known for its respiratory symptoms, but severe presentations can alter haemostasis, causing acute end-organ damage with poor outcomes. Among its various neurological presentations, cerebrovascular events often present as small-vessel strokes. Although uncommon, in predisposed individuals, large-vessel occlusions (LVOs) can occur as a possible consequence of direct viral action (viral burden or antigenic structure) or virus-induced cytokine storm. Subtle presentations and complicated stroke care pathways continue to exist, delaying timely care. We present a unique case of COVID-19 LVO manifesting as an acute confusional state in an elderly man in April 2020. CT angiography revealed 'de novo' occlusions of the left internal carotid artery and proximal right vertebral artery, effectively blocking anterior and posterior circulations. Delirium can lead to inaccurate stroke scale assessments and prolong initiation of COVID-19 stroke care pathways. Future studies are needed to look into the temporal relationship between confusion and neurological manifestations.