Articles

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More than 200 results
Article

Bottom of sulcus focal cortical dysplasia

Bottom of sulcus focal cortical dysplasia, or simply bottom of sulcus dysplasia, refers to a highly epileptogenic and localized focal cortical dysplasia that is anatomically restricted to, and maximal at, the bottom of a cortical sulcus. Epidemiology The true incidence is not known given botto...
Article

Catel-Manzke syndrome

Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
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Central tegmental tract T2 hyperintensity

High T2 signal of the central tegmental tract, which connects the red nucleus and inferior olivary nucleus, is an uncommon finding typically encountered in early childhood.  The central tegmental tract refers mainly to the extrapyramidal tracts connecting between the red nucleus and the inferio...
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Pyrexia of unknown origin

A pyrexia of unknown origin, commonly shortened to PUO, and also known as a fever of unknown origin (FUO), was originally defined in 1961 as the condition in which the core body temperature is >38.3oC for a period of three weeks or more, with no diagnosis reached after one week of inpatient inve...
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Salter-Harris type III fracture

Salter-Harris type III fractures are an uncommon, intraarticular fracture physeal fractures that occur in children.  The fracture line is often obliquely oriented through the epiphysis to the physis where it will take a horizontal orientation extending to the edge of the physis.  The prognosis...
Article

Neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs), occasionally known collectively as Batten disease, are a group of genetic neurodegenerative disorders of childhood in which there is excessive accumulation of lipofuscin. Terminology The use of Batten disease as an umbrella term for neuronal ceroid lipofu...
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Raccoon eyes sign (base of skull fracture)

Raccoon eyes sign (or panda eyes in the UK and Ireland) refers to periorbital ecchymosis with sparing of the tarsal plate 3 and is a physical examination finding indicative of a base of skull fracture of the anterior cranial fossa. However it is not pathognomonic for trauma, and there are sever...
Article

Triphalangeal thumb

Triphalangeal thumb is considered a form of preaxial polydactyly. Epidemiology Triphalangeal thumbs have an incidence of 1 in 25,000 7.  Associations There is a long list of associations 1-6:  Aase syndrome anatomic variant: isolated anomaly Diamond-Blackfan syndrome DOOR syndrome Duane...
Article

Enchondromatosis

Enchondromatosis, also known as Ollier disease (see Terminology section), is a non-hereditary, sporadic, skeletal disorder characterized by multiple enchondromas principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromato...
Article

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by refractory childhood-onset epilepsy accompanied by intellectual disability and psychiatric/behavioral disturbance. Epidemiology Lennox-Gastaut syndrome is thought to represent 1-2% of all patients with epilepsy 6. The cond...
Article

Croup

Croup, also known as acute laryngotracheobronchitis, is due to viral infection of the upper airway by parainfluenza virus or respiratory syncytial virus (RSV). Although imaging findings are not required for the diagnosis, classic findings of narrowing of the subglottic airway and dilatation of ...
Article

Dravet syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life. Clinical presentation The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures (includ...
Article

Fibrous dysplasia

Fibrous dysplasia (FD) is a developmental benign medullary fibro-osseous process characterized by the failure to form mature lamellar bone and arrest as woven bone that can be multifocal. It can affect any bone and occur in a monostotic form involving only one bone or a polyostotic form involvin...
Article

Rasmussen encephalitis

Rasmussen encephalitis, also known as chronic focal encephalitis, is a chronic inflammatory disease of unknown origin, usually affecting one brain hemisphere. It is not to be confused with a Rasmussen aneurysm. Epidemiology Most cases (85% of cases) occur in children under the age of 10 years...
Article

Pseudocyst

A pseudocyst is an abnormal fluid-filled cavity which is not lined by epithelium.  It is this fact that distinguishes it pathologically from a cyst, which is lined by epithelium. Examples of pseudocysts include: adrenal pseudocyst auricular pseudocyst intraspinal epidural gas pseudocysts me...
Article

Antral nipple sign (pyloric stenosis)

The antral nipple sign refers to redundant pyloric mucosa protruding into the gastric antrum and is seen in hypertrophic pyloric stenosis on ultrasound examination. See also cervix sign (pyloric stenosis) target sign (pyloric stenosis)
Article

Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. It can occur as part of Shwachman-Diamond syndrome (SDS). Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cuppe...
Article

Embryonal rhabdomyosarcoma

The embryonal subtype of rhabdomyosarcoma is the most common variety of rhabdomyosarcoma, accounting for 50-70% of cases 1,2. It is typically seen in children below the age of 15. Pathology Embryonal rhabdomyosarcomas are further divided into three subtypes 1: spindle cell rhabdomyosarcoma r...
Article

Freiberg disease

Freiberg disease, also known as Freiberg infraction, is osteochondrosis of the metatarsal heads. It commonly affects the 2nd or 3rdmetatarsal head (in ~2/3 and ~1/4 of all cases, respectively) or rarely, the 4th or 5th metatarsal head 13. It can be bilateral in up to 10% of cases. Epidemiology ...
Article

Intracranial teratoma

Intracranial teratomas are uncommon intracranial neoplasms, which can have a bewildering variety of components and thus a wide range of appearances. They can be divided into two broad categories, intra- and extra-axial, which differ in epidemiology and clinical presentation. Another method of cl...

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