Top of the Basilar Syndrome Presenting With Convulsions.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2016.3449
Abstract: A man in his 60s presented with impaired level of alertness, convulsive-like movements of the limbs, and vertical nystagmus. Initial imaging findings were consistent with top of the basilar artery occlusion (Figure 1). He received… read more here.
Keywords: neurology; presenting convulsions; top basilar; basilar syndrome ... See more keywords
Hypereosinophilic syndrome presenting with bilateral ear fullness.
Sign Up to like & getrecommendations! Published in 2019 at "European annals of otorhinolaryngology, head and neck diseases"
DOI: 10.1016/j.anorl.2018.03.009
Abstract: INTRODUCTION Hypereosinophilic syndrome is a rare disease with hypereosinophilia resulting in end-organ dysfunction. Patients present with organ-associated symptoms, and the targets frequently affected are heart, lung, skin, or the nervous system, and the middle ear… read more here.
Keywords: bilateral ear; hypereosinophilic syndrome; syndrome presenting; syndrome ... See more keywords
Seckel syndrome presenting with complete heart block
Sign Up to like & getrecommendations! Published in 2021 at "Baylor University Medical Center Proceedings"
DOI: 10.1080/08998280.2020.1871265
Abstract: Abstract Seckel syndrome is a rare autosomal recessive disorder characterized by facial dysmorphic features known as bird-headed dwarfism. Only about 100 cases have been reported. Cardiac anomalies have been described as a potential association with… read more here.
Keywords: complete heart; syndrome presenting; seckel syndrome; heart block ... See more keywords
An Infant with Crouzon Syndrome Presenting with Reversible Chronic Airway Obstruction.
Sign Up to like & getrecommendations! Published in 2020 at "Anesthesiology"
DOI: 10.1097/aln.0000000000003291
Abstract: Supplemental Digital Content is available in the text. read more here.
Keywords: infant crouzon; chronic airway; reversible chronic; crouzon syndrome ... See more keywords
A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema
Sign Up to like & getrecommendations! Published in 2019 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000000096
Abstract: vulva. Then she was taken to my hospital for further To the Editor: Noonan syndrome (NS) is a common genetic multisystem disorder caused by aberrant signal flux treatment. She had a heart operation when she… read more here.
Keywords: presenting bilateral; report girl; noonan syndrome; syndrome presenting ... See more keywords
Case report of hypereosinophilic syndrome presenting as severe ischaemic colitis
Sign Up to like & getrecommendations! Published in 2018 at "ANZ Journal of Surgery"
DOI: 10.1111/ans.14894
Abstract: A 55‐year‐old woman presented to the emergency department with abdominal pain and diarrhoea. The patient had no significant medical history and did not take medications. A computed tomography (CT) abdominal scan demonstrated thickening of the… read more here.
Keywords: severe ischaemic; hypereosinophilic syndrome; presenting severe; report hypereosinophilic ... See more keywords
Sleeping beauty syndrome presenting with insomnia
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-225873
Abstract: A young man previously diagnosed with Kleine-Levin syndrome (KLS) presented with abnormal behaviour over the last 8 days. This included decreased sleeping hours and appetite, hypersexuality, aggressiveness and visual hallucinations. All blood tests and investigations… read more here.
Keywords: insomnia; sleeping beauty; beauty syndrome; syndrome presenting ... See more keywords
Congenital long QT syndrome presenting as unexplained bradycardia
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-242362
Abstract: Congenital long QT syndrome (LQTS) is a genetically autosomal heterogeneous disorder of the ion channels and causes about 10% of sudden death infant syndrome in newborns. Its estimated prevalence is approximately 1 in 2500, probably… read more here.
Keywords: long syndrome; presenting unexplained; congenital long; unexplained bradycardia ... See more keywords
Mowat-Wilson syndrome presenting with Shone’s complex cardiac anomaly
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-246913
Abstract: A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be Shone’s complex postnatally, underwent bilateral pulmonary artery banding, patent ductus arteriosus stent insertion and balloon aortic valvuloplasty soon after birth. She… read more here.
Keywords: shone complex; mowat wilson; syndrome presenting; shone ... See more keywords
Hypereosinophilic syndrome presenting with gastrointestinal manifestations
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Case Reports"
DOI: 10.1136/bcr-2022-254388
Abstract: Hypereosinophilic syndrome (HES) is a spectrum of diseases characterised by an elevated eosinophilic count causing end-organ damage. Differential diagnoses of hypereosinophilia are vast and include drug hypersensitivities, allergies, infections, cancers, autoimmune disorders and rare eosinophilic… read more here.
Keywords: presenting gastrointestinal; gastrointestinal manifestations; hypereosinophilic syndrome; case ... See more keywords
PES Syndrome Presenting as Severe Hyponatremia in an Asymptomatic Septuagenarian
Sign Up to like & getrecommendations! Published in 2021 at "Case Reports in Endocrinology"
DOI: 10.1155/2021/8891881
Abstract: Background Hyponatremia is commonly seen in hospitalized patients. In euvolemic individuals, syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common differential. However, before establishing a diagnosis of SIADH, it is imperative to evaluate for… read more here.
Keywords: endocrine abnormalities; severe hyponatremia; hyponatremia; presenting severe ... See more keywords