Articles
Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and continuously improved upon by countless contributing members. Our dedicated editors oversee each edit for accuracy and style. Find out more about articles.
704 results found
Article
Neurofibromatosis type 1 (mnemonic)
Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1.
These diagnostic criteria can be remembered with the mnemonic:
CAFE SPOT
Mnemonic
C: café-au-lait spots (greater than six seen during one year)
A: axillary or ingui...
Article
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
Clinical presentation
A few of the clinical features of this syndrome are:
syndactyly
zygomatic hypoplasia
delayed speech
microtia
hypoplastic nipples
excessive ...
Article
Fat pad impingement syndromes of the knee
In fat pad impingement syndromes, the etiologies are different for each knee fat pad.
In anterior suprapatellar fat pad impingement syndrome, the cause is usually due to either a developmental cause related to the anatomy of the extensor mechanism or may be related to abnormal mechanics. In thi...
Article
Lutembacher syndrome
Lutembacher syndrome refers to the rare combination of congenital atrial septal defect with acquired mitral stenosis.
History and etymology
It is named after Rene Lutembacher 4.
Article
Grisel syndrome
Grisel syndrome is a rare cause of torticollis that involves subluxation of atlanto-axial joint from inflammatory ligamentous laxity following an infectious process in the head and neck, usually a retropharyngeal abscess.
Epidemiology
It usually occurs in infants or young children.
Clinical p...
Article
Babinski-Nageotte syndrome
Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome), but distinct to that of Cestan-Chenais syndrome 1,2.
Terminology
In many texts this eponymous syn...
Article
Cortical blindness syndrome
Cortical blindness is a condition resulting from lesions in the primary visual cortex (V1) characterized by visual impairment but with an intact anterior visual pathway (normal pupillary reflexes and fundal appearance).
Clinical presentation
The degree of visual impairment is related to the ex...
Article
Allgrove syndrome
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
achalasia
alacrima
ACTH insensitivity
Article
Stiff person syndrome
Stiff person syndrome, previously known as stiff man syndrome, is a very rare neuromuscular disease.
Epidemiology
Onset is usually between 30 and 50 years of age.
Associations
An association with autoimmune disease, in particular type 1 diabetes mellitus, and various malignancies is describe...
Article
Zellweger syndrome
Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys.
Epidemiology
The condition typically presents in neonates with poor feeding and/or seizures. ...
Article
Johanson-Blizzard syndrome
Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with wide variability in its manifestations. It is thought to have an autosomal recessive inheritance.
Clinical presentation
There is wide variability in the clinical presentation, but common features are:
low birth weight
hypo...
Article
Stauffer syndrome
Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement of the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.
History and etymology
It is named after Maurice ...
Article
Middle clunal nerve entrapment
Middle clunal nerve entrapment is a potential cause of low back pain. The middle clunal nerves travel beneath the long posterior sacroiliac ligament and this is a potential space for nerve entrapment 1.
Clinical presentation
Low back pain and leg pain can be caused by entrapment of these nerve...
Article
Broca aphasia
Broca aphasia, also known as expressive aphasia or motor aphasia, is a type of non-fluent aphasia thought to be caused by injury (e.g. stroke) to Broca's area and the surrounding frontal fields 1,2, although there is controversy regarding the exact localization that leads to Broca aphasia 3.
Cl...
Article
Carney-Stratakis syndrome
Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastrointestinal stromal tumor (GIST).
Terminology
It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney co...
Article
Neuroferritinopathy
Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19.
Epidemiology
Neuroferritinopathy is a rare disorder first described in 2001 ...
Article
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features.
Epidemiology
The estimated incidence is 1 in 100,000-125,000 live births 5.
Clinical...
Article
Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome is characterized by asthma, eosinophilia and small vessel necrotizing vasculitis and involves the lungs and other organs.
Epidemiology
The incidence typically peaks in middle age, 30-50 years of ag...
Article
Frontonasal dysplasia
Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system.
Epidemiology
Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
Article
Neu-Laxova syndrome
Neu-Laxova syndrome is a lethal autosomal recessive multiple malformation syndrome with a heterogeneous phenotype.
Clinical presentation
The clinical spectrum can be quite wide and includes:
dermal / cutaneous
severe skin restriction
ichthyosis
decreased fetal movement
marked intrauterine...
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