Articles
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704 results found
Article
Middle East respiratory syndrome coronavirus (MERS-CoV) infection
Middle East respiratory syndrome coronavirus (MERS-CoV) infection is an uncommon coronavirus infection (<1000 cases) with the first case reported in Saudi Arabia in 2012. It most commonly causes pneumonia and acute renal failure with a mortality rate of ~40%. MERS-CoV raises concern because of i...
Article
Achenbach syndrome
Achenbach syndrome, also known as paroxysmal finger hematomas or acute idiopathic blue finger, is a rare disorder characterized by spontaneous rupture of digital arteries with resultant hematomas 1-3.
Epidemiology
Achenbach syndrome is more common in women, typically in middle to older age (30...
Article
Platypnoea-orthodeoxia syndrome
Platypnoea-orthodeoxia syndrome refers to the concomitant occurrence of dyspnea and hypoxemia, respectively, which are precipitated by assuming an upright position and alleviated by assuming a recumbent position 4.
Clinical presentation
As the name of the syndrome suggests, the hallmark clinic...
Article
Pallister Killian syndrome
Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly.
Epidemiology
It may be more prevalent in births from women of advanced age 4.
Clinical presentation
Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...
Article
Neonatal encephalopathy
Neonatal encephalopathy is a clinical syndrome referring to signs and symptoms of abnormal neurological function in the first few days of life in a neonate born at or beyond 35 weeks of gestation. It is described as decreased level of consciousness, difficulty with initiating and maintaining re...
Article
Cerebral hypoventilation syndrome
Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of the cardiorespiratory system. There is a decrease in the depth of breathing.
It is also known as central sleep apnea, congenital central hypoventilatio...
Article
Chromosomal anomalies
There are a large number of recognized chromosomal anomalies (many with eponyms). When there is a change in the absolute number of chromosomes these are subgrouped as aneuploidic anomalies.
They can cause a variable degree of disability with outcomes ranging from no effect (in some balanced tra...
Article
Congenital high airway obstruction syndrome
Congenital high airway obstruction syndrome or sequence (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterized by obstruction to the fetal upper airway.
Epidemiology
Associations
Fraser syndrome
Pathology
CHAOS can be of three possible ty...
Article
Non-steroidal anti-inflammatory drug exacerbated respiratory disease
Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2:
hypersensitivity to aspirin (and other NSAIDs)
nasal polyposis / rhinosinusitis
asthma
Terminology
Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...
Article
Maffucci syndrome
Maffucci syndrome is a congenital nonhereditary, sporadic, mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas 6,7, generally caused by somatic mutations in IDH1 or IDH2 6.
On imaging, it is usually portrayed by a sho...
Article
Ovarian hyperstimulation syndrome
Ovarian hyperstimulation syndrome (OHSS) is a complication of controlled ovarian stimulation, which is an assisted reproduction technique used for in vitro fertilisation (IVF). Rarely, it may also occur spontaneously in pregnancy (see below). It consists of ovarian enlargement with an extravascu...
Article
Failed back syndrome
Failed back syndrome refers to persistent leg and/or lumbar back pain after a surgical procedure. The pathophysiology of this syndrome is complex, as often the operation was technically successful.
Terminology
Other names for failed back syndrome include failed back surgery syndrome, post-lam...
Article
Whipple triad
Whipple triad is the clinical presentation of pancreatic insulinoma and consists of:
fasting hypoglycemia (<50 mg/dL or <2.7 mmol/L)
symptoms of hypoglycemia
immediate relief of symptoms after the administration of intravenous glucose
History and etymology
The triad and also the Whipple pro...
Article
Cavernous sinus syndrome
Cavernous sinus syndromes refer to constellations of clinical signs and symptoms referable to pathology within or adjacent to the cavernous sinus.
Clinical presentation
Patients present with multiple unilateral cranial neuropathies involving any combination of the following:
ophthalmoplegia (...
Article
Tietze syndrome
Tietze syndrome is a benign condition characterized by a self-limiting inflammation of the costal cartilages often with hypertrophy. Although often described as such, it is not a costochondritis 9.
Epidemiology
The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...
Article
Neurofibromatosis type 1 (thoracic manifestations)
Thoracic manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis.
For thoracic manifestations involving the skeleton, such as focal thora...
Article
Trisomy 8 mosaic
Trisomy 8 mosaicism or Warkany syndrome is a less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exh...
Article
Perlman syndrome
Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4.
Clinical presentation
Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramni...
Article
Patau syndrome
Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...
Article
Subclavian steal syndrome
Subclavian steal syndrome and subclavian steal phenomenon both result from severe proximal subclavian artery stenosis or occlusion resulting in retrograde flow in the ipsilateral vertebral artery.
Terminology
Subclavian steal phenomenon refers to steno-occlusive disease of the proximal subclav...
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