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 edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.
639 results found
Article
Interstitial cystitis
Interstitial cystitis (or painful bladder syndrome) refers to an inflammatory condition affecting the bladder. It is usually defined as urinary bladder pain and irritative symptoms of more than six months' duration. It usually represents a diagnosis of exclusion. Traditionally, it has been defin...
Article
Irritable bowel syndrome
Irritable bowel syndrome (IBS) is the commonest of the functional gastrointestinal disorders (FGIDs). Its key presenting features are recurrent abdominal pain and change in bowel habit (diarrhea and/or constipation), which may be severe, such that for an individual, there may be a marked negativ...
Article
Ischiofemoral impingement
Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur.
Clinical presentation
Ischiofemoral impingement is a rare cause of buttock pain, groin pain, or a snapping hip 6,7.
Epidemiology
Females are more affected t...
Article
Ischiopubic synchondrosis asymmetry
Ischiopubic synchondrosis asymmetry (also known as van Neck-Odelberg disease) is characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding.
However, some ...
Article
Jacobsen syndrome
Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article
Jaffe-Campanacci syndrome
Jaffe-Campanacci syndrome is characterized by:
multiple non-ossifying fibromas of the long bones and jaw
café au lait spots
intellectual disability
kyphoscoliosis
hypogonadism or cryptorchidism
ocular malformations
cardiovascular malformations
giant cell granuloma of the jaw
axillary an...
Article
Jarcho-Levin syndrome
The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
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
Juberg-Hayward syndrome
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterized by the association of the following:
growth retardation
microcephaly
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
thumb anomal...
Article
Juvenile hyaline fibromatosis
Juvenile hyaline fibromatosis is a rare autosomal recessive syndrome outlined by painful, abnormal, often deforming deposits of hyalinized fibrous material in the extracellular matrix of the skin, subcutaneous soft tissues and gums. It is listed under fibroblastic and myofibroblastic tumors in t...
Article
Juvenile polyposis syndrome
Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.
Epidemiology
Presentation in the second decade is most common 2.
Clinical presentation
Rectal bleeding, bowel obstruction and intussuscept...
Article
Kabuki syndrome
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Epidemiology
Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
Clinical presentation
cha...
Article
Kallmann syndrome
Kallmann syndrome is a rare genetic disorder characterized by hypogonadotropic hypogonadism associated with anosmia or hyposmia. When anosmia is absent, a similar syndrome is referred to as normosmic idiopathic hypogonadotropic hypogonadism.
Epidemiology
It is a rare disorder with an estimate...
Article
Kartagener syndrome
Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Epidemiology
The prevalence of primary ciliary dyski...
Article
Kasabach-Merritt syndrome
Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy.
Pathology
Vascular t...
Article
Keutel syndrome
Keutel syndrome is an extremely rare inherited condition characterized by
cartilage calcification which include
ears
nose
larynx
trachea - with resultant tracheobronchial stenosis
ribs
pulmonary arterial stenoses
brachytelephalangism (short fingers and nails that resemble drumsticks)
fa...
Article
Klinefelter syndrome
Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46.
Epidemiology
The estimated incidence is 0.15-0.2% of live births.
Clinical presentation
the testes are normal prior to puberty and small in post pubertal te...
Article
Klippel-Feil syndrome
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
Epidemiology
There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Article
Klippel-Trénaunay-Weber syndrome
Klippel-Trénaunay-Weber syndrome (KTWS) is a syndrome combination of capillary malformations, soft-tissue or bone hypertrophy, and varicose veins or venous malformations. It is considered an angio-osteo-hypertrophic syndrome.
KTS classically comprises a triad of:
port wine nevi
bony or soft t...
Article
Kyphomelic dysplasias
Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias. Entities included in a differential for the class are:
congenital bowing of the long bones
cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type)
...
Article
Lacunar stroke syndrome
Lacunar stroke syndrome (LACS) is a description of the clinical syndrome that results from a lacunar infarct.
Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressively, or in a fluctuating manner (e.g. the capsular warnin...
Article
Lady Windermere syndrome
Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...
Article
Lambert-Eaton myasthenic syndrome
Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology.
Epidemiology
LEMS is the second most common neuromuscular junction disease after myasthenia gravis.
Two-thirds of LEMS present as a paraneoplastic syndrome sec...
Article
Lane-Hamilton syndrome
Lane-Hamilton syndrome (LHS) refers to the rare concurrent association of idiopathic pulmonary hemosiderosis and celiac disease 1.
Epidemiology
It is typically seen in children under the age of 15 but can occasionally be seen in adults.
History and etymology
It was originally described by D ...
Article
Langer-Giedion syndrome
Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is an extremely rare autosomal dominant genetic disorder.
Pathology
The effects are seen mainly on the skeletal system and primarily involves
hair: tricho
nose: rhino
digits of the hands and feet: phalangeal
The...
Article
Large vestibular aqueduct syndrome
Large vestibular aqueduct syndrome (LVAS), also known as enlarged vestibular aqueduct (EVA) or large endolymphatic sac anomaly (LESA), refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct due to enlargement of the endolymphatic duct. It is thought ...
Article
Larsen syndrome
Larsen syndrome (LS) is an extremely rare disorder, often classified as a type of osteochondrodysplasia.
Epidemiology
The estimated incidence is thought to be at ~ 1 in 100,000 people. There may be an increased female predilection.
Clinical presentation
It is characterized by many features i...
Article
Lateral medullary syndrome
Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by an acute ischemic infarct of the lateral medulla oblongata. This is most commonly due to occlusion of the intracranial portion of the vertebral artery followed by PICA and its branches 1-3.
Epidemio...
Article
Lateral meningocele syndrome
Lateral meningocele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningoceles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies and ne...
Article
Lateral pontine syndrome
Lateral pontine syndrome, also known as Marie-Foix syndrome or Marie-Foix-Alajouanine syndrome, refers to one of the brainstem stroke syndromes of the lateral aspect of the pons.
Clinical presentation
There is a characteristic clinical picture1,2,4:
ipsilateral
limb ataxia: cerebellar tracts...
Article
Laurin-Sandrow syndrome
Laurin-Sandrow syndrome is a rare disorder characterized by tetrameric polysyndactlyly.
Radiographic features
polysyndactyly of the hands (both post-axial and pre-axial)
"cup-shaped" hands
mirror polysyndactyly of the feet
ulnar dimelia
absence of the radius and tibia
possible hypertelori...
Article
Leaky lung syndrome
Leaky lung syndrome refers to a form of non-cardiogenic pulmonary edema.
Pathology
Pulmonary edema due to increased capillary permeability.
Radiographic features
Leaky lung syndrome is considered a mild form of a part of the spectrum of acute lung injury with ARDS at the other end of the s...
Article
Legius syndrome
Legius syndrome is characterized by multiple café-au-lait spots, with or without freckles and macrocephaly.
Epidemiology
More than 200 cases were reported between 2007 and 2013 1,3.
Although rare, it is estimated that up to 2% of patients fulfilling diagnostic criteria for neurofibromatosis-1...
Article
Leigh syndrome
Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood.
Epidemiology
Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...
Article
Lemierre syndrome
Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic sepsis in the setting of initial oropharyngeal infection such as pharyngitis/tonsillitis with or without peritonsillar or retropharyngeal abscess.
Epidemio...
Article
Lemmel syndrome
Lemmel syndrome is defined as obstructive jaundice caused by a periampullary duodenal diverticulum compressing the intrapancreatic common bile duct with resultant bile duct dilatation.
Clinical presentation
Patients may present with recurrent episodes of jaundice, pancreatitis and/or cholangit...
Article
Lennox-Gastaut syndrome
Lennox-Gastaut syndrome is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological/ behavioral problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern.
Epidemiology
It often appears between the 2nd and 6th years ...
Article
Leontiasis ossea
Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...
Article
Leprosy
Leprosy, previously known as Hansen's disease, is a chronic infectious disease caused by Mycobacterium leprae and presents mainly in tropical developing countries.
Epidemiology
It is most common in tropical developing countries and is endemic in over 100 countries. Worldwide, there is a preval...
Article
Lesch-Nyhan syndrome
Lesch-Nyhan syndrome is a rare X-linked genetic disease caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Epidemiology
Affects 1 per 380,000 individuals, which are nearly all male given the X-linked inheritance 1.
Clinical presentation
hyperuricemia-...
Article
Lethal omphalocele-cleft palate syndrome
Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterized by the association of omphalocele and cleft palate.
Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1.
History and etymolog...
Article
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy with calcification and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcification and edematous cysts.
Epidemiology
Leukoencephalopathy with calcification and cysts is an extremely rare condition, with ...
Article
Levator ani syndrome
Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles.
Clinical presentation
Levator ani syndrome is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sac...
Article
Li-Fraumeni syndrome
Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1.
Associated malignancies
sarcomas
osteosarcoma
rhabdomyosarcoma
CNS tumors
gliomas...
Article
Little league shoulder
Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers.
Epidemiology
Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...
Article
Locked-in syndrome
Locked-in syndrome is one of the brainstem stroke syndromes and can occur as a result of a pontine stroke that damages the ventral brainstem, pyramidal bundles and corticobulbar tracts 5.
Clinical presentation
Individuals who are "locked-in" are conscious with preserved cognitive function but ...
Article
Löffler syndrome
Simple pulmonary eosinophilia (also known as Löffler syndrome) is a type of pulmonary eosinophilia that typically presents with transient radiographic infiltrates, minimal constitutional upset, and an elevated eosinophil count in peripheral blood.
Pathology
Etiology
The cause is not usually i...
Article
Löfgren syndrome
Löfgren syndrome is a specific acute clinical presentation of systemic sarcoidosis that usually manifests with lymphadenopathy, fevers, erythema nodosum, and polyarticular arthritis.
Terminology
It is important to not confuse this syndrome with Löffler syndrome, as the names are quite similar...
Article
Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
Article
Low phospholipid-associated cholelithiasis syndrome
Low phospholipid-associated cholelithiasis (LPAC) syndrome is one of the syndromes associated with ABCB4/MDR3 mutation. Characteristics of this syndrome include 1,2:
intrahepatic microlithiasis/sludge
symptomatic cholesterol stones with early onset (<40 years)
recurrent symptoms post cholecys...
Article
LUMBAR syndrome
LUMBAR, PELVIS, or SACRAL syndrome is the association of infantile hemangiomas in the lower body with other extracutaneous congenital abnormalities in the region. The syndrome may be incomplete.
Pathology
LUMBAR 1
lower body hemangiomas
urogenital anomalies and ulceration
myelopathy
bony...
Article
Lutembacher syndrome
Lutembacher syndrome refers to the association of an atrial septal defect (ASD) with mitral stenosis. Both the defects can be either congenital or acquired.
History and etymology
It is named after Rene Lutembacher 4.
Article
Madelung disease
Madelung disease, also known as Madelung-Launois-Bensaude syndrome or neck lipomatosis or multiple symmetric lipomatosis, is a rare benign entity clinically characterized by the presence of multiple and symmetric, non-encapsulated masses of fatty tissue, usually involving the neck and the upper ...
Article
Maffucci syndrome
Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations (hemangiomas).
On imaging, it is usually portrayed by a short limb with metaphyseal distortions due to multiple enchondromas, which may appear grotes...
Article
Mainzer-Saldino syndrome
Mainzer-Saldino syndrome (also known as conorenal syndrome (CRS)) is a rare condition and is one of the ciliopathies. It is due to mutations in the IFT140 gene, whose protein product is one of the six parts of the intraflagellar transport complex A.
The syndrome's key characteristics are:
phal...
Article
Manganism
Manganism (also known as acquired hypermanganesemia) is the clinical syndrome resulting from acute or chronic overexposure to the transition metal manganese, one of the essential trace elements. It primarily manifests as parkinsonism and is frequently clinically, radiologically and histopatholog...
Article
Man-in-the-barrel syndrome
Man-in-the-barrel syndrome is a neurological syndrome characterized by bilateral brachial muscular weakness.
Pathology
This syndrome is usually caused by bilateral cerebral lesions in the border zone between the anterior and middle cerebral arteries.
Etiology
The syndrome has been described ...
Article
Marchiafava-Bignami disease
Marchiafava-Bignami disease (MBD) is a rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves the corpus callosum with necrosis and demyelination.
Epidemiology
MBD is in most instances seen in chronic alcoholics, and as such the epidem...
Article
Marfan syndrome
Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease.
Epidemiology
The estimated prevalence is aro...
Article
Marine-Lenhart syndrome
Marine-Lenhart syndrome refers to a variant of Graves disease where there are coexistent autonomous thyroid nodules. It is better described as Graves disease with coexistent multinodular goiter or nodular Graves disease 1.
Epidemiology
The syndrome is rare with reported prevalence somewhere b...
Article
Marshall-Smith syndrome
Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases, however, have a wider clinical spectrum.
Clinical presentation
general
fetal macrosomia
failure to thrive
skelet...
Article
May-Thurner syndrome
May-Thurner syndrome refers to a chronic compression of the left common iliac vein (CIV) against the lumbar vertebrae by the overlying right common iliac artery (CIA), with or without deep venous thrombosis 2.
Although both left and right CIVs lie deep to the right common iliac artery, the left...
Article
Mazabraud syndrome
Mazabraud syndrome is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas 1-3.
Epidemiology
Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. T...
Article
McCune-Albright syndrome
McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the association of:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'café au lai...
Article
McKusick Kaufman syndrome
McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterized by
hydrometrocolpos - vaginal atresia
post-axial polydactyly
congenital heart disease
Article
Meckel-Gruber syndrome
Meckel-Gruber syndrome (MGS) is classically characterized by the triad of:
renal cystic dysplasia: multiple renal cysts (present most cases)
occipital encephalocoele/holoprosencephaly (~70%)
postaxial polydactyly: usually hexadactyly (~65%)
Additional hepatic developmental defects and hepati...
Article
Meconium plug syndrome
Meconium plug syndrome refers to a functional colonic obstruction in a newborn due to an obstructing meconium plug. It is usually transient and affects the left colon with meconium plugging the bowel distal to this segment. In this situation, it is also termed the small left colon syndrome.
Pat...
Article
Medial medullary syndrome
Medial medullary syndrome, also known as Déjerine syndrome, is secondary to thrombotic or embolic occlusion of small perforating branches from vertebral or proximal basilar artery supplying the medial aspect of medulla oblongata1,2.
Epidemiology
Represents less than 1% of brainstem stroke sy...
Article
Medial patellar plica syndrome
Medial patellar plica syndrome is one of the conditions that can be associated with the presence of synovial plicae of the knee (in this instance a medial plica). It can be a common source of anterior knee pain.
Epidemiology
While it can affect those of any age, it typically involves the young...
Article
Medial tibial stress syndrome
Medial tibial stress syndrome (MTSS), also known as shin splints, describes a spectrum of exercise-induced stress injury that occurs at the medial tibial mid-to-distal shaft. This term is often incorrectly used to indicate any type of tibial stress injury but more correctly refers to the earlier...
Article
Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterized by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract.
Epidemiology
There is recognized strong female predi...
Article
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...
Article
Megalocornea
Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.
Epidemiology
Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with mult...
Article
MEGDEL syndrome
MEGDEL syndrome (3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a recently described syndrome with infantile onset. These patients typically initially receive a diagnosis of Leigh syndrome, based on clinical and biochemical features and an abnormal basal ganglia s...
Article
Mendelson syndrome
Mendelson syndrome or peptic pneumonia refers to acute chemical pneumonitis caused by the aspiration of stomach contents in patients under general anesthesia.
Clinical presentation
This syndrome develops rapidly (2-12 hours after aspiration) and within hours the patient may become
tachypnei...
Article
Menkes disease
Menkes disease, also known as trichopoliodystrophy or kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper-dependent mitochondrial enzymes.
Epidemiology
Menk...
Article
Mercedes Benz craniosynostosis syndrome
Mercedes Benz pattern craniosynostosis also known as pure bilateral lambdoid and sagittal synostosis (BLSS) is a pattern of craniosynostosis. 1-2
Epidemiology
The estimated incidence is at around 0.3 - 0.7 % 3.
Clinical presentation
Cognitive function is grossly normal. Dolichocephalic head...
Article
Metabolic syndrome
The metabolic syndrome, also known as syndrome X, is a set of five conditions, which together increase a patient's risk of developing cardiovascular disease 1.
Clinical presentation
There are five central components of metabolic syndrome:
hyperinsulinemia
impaired glucose tolerance
dyslipid...
Article
Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia.
Pathology
Classification
Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets
Pena and Vaandrager type - intermedi...
Article
Metronidazole central nervous system toxicity
Metronidazole, which is used to treat a wide variety of bacterial and protozoal infections can, in exceedingly rare cases, lead to central nervous system toxicity.
Epidemiology
In a review of the case literature 1, affected patients range widely in age, with the peak incidence occurring in the...
Article
Midaortic syndrome
Midaortic syndrome is an uncommon entity affecting children and young adults. It is characterized by progressive narrowing of the abdominal aorta and its major branches.
Clinical presentation
The onset of symptoms is usually during childhood or young adulthood 2:
hypertension (most common)
i...
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
Mikulicz syndrome
Mikulicz syndrome was considered a form of Sjögren syndrome (type 1), however, more recently it is considered to be on the IgG4-related disease spectrum.
Terminology
It may also be referred to by numerous other eponyms as well as the rather verbose: sicca syndrome without a connective tissue ...
Article
Milk-alkali syndrome
Milk-alkali syndrome is the combination of:
hypercalcemia
renal failure
metabolic alkalosis
It is due to a large amount of calcium and alkali being ingested (e.g. milk and antacids for peptic ulcer disease treatment or calcium carbonate for osteoporosis). It is a cause of medullary nephrocal...
Article
Millard-Gubler syndrome
Millard-Gubler syndrome, also known as ventral pontine syndrome, is one of the crossed paralysis syndromes, which are characterized by cranial nerves VI and VII palsies with contralateral body motor or sensory disturbances 1-3.
Clinical presentation
ipsilateral facial and contralateral body he...
Article
Milwaukee shoulder
Milwaukee shoulder refers to a destructive shoulder arthropathy due to deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis.
Epidemiology
Milwaukee shoulder frequently affects older women, often with a history of trauma t...
Article
Mirizzi syndrome
Mirizzi syndrome refers to an uncommon phenomenon that results in extrinsic compression of an extrahepatic biliary duct from one or more calculi within the cystic duct or gallbladder. It is a functional hepatic syndrome but can often present with biliary duct dilatation and can mimic other hepat...
Article
Möbius syndrome
Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterized by the absence or underdevelopment of the nuclei of the abducens (CN VI) and facial nerve (CN VII).
Epidemiology
Möbius syndrome is rare with an estimated incidence of ~1 case per 1...
Article
Morgagni-Stewart-Morel syndrome
Morgagni-Stewart-Morel syndrome consists of the triad of:
hyperostosis frontalis interna
obesity
excessive hair growth (virilism/hirsutism)
and is also associated with neuropsychiatric conditions. The cause is unclear.
History and etymology
It was first described in 1765 by the Italian ...
Article
Morning glory syndrome (eye)
Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1.
Epidemiology
Morning glory disc anomaly is rare and is more commonly found in female...
Article
Morquio syndrome
Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.
Epidemiology
Incidence estimated at ~1:40,000.
Clinical presentation
Many cases present at ~2 years of age and have normal intelligence. Cl...
Article
Morvan syndrome
Morvan syndrome, also known as Morvan fibrillary chorea, is a rare syndrome thought to be either paraneoplastic or autoimmune in origin.
Clinical presentation
It is characterized by:
neuromyotonia
pain
hyperhydrosis
weight loss
severe insomnia
hallucinations
Pathology
Voltage gated pot...
Article
Moyamoya syndrome
Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease. These conditions include 1-4 :
vessel wall abnormalities
athe...