Articles
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More than 200 results
Article
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
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
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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
Biliary atresia
Biliary atresia is a congenital biliary disorder that is characterized by an absence or severe deficiency of the extrahepatic biliary tree. It is one of the most common causes of neonatal cholestasis, often causing cirrhosis immediately and leading to death and accounts for over half of children...
Article
Kaposiform hemangioendothelioma
Kaposiform hemangioendotheliomas are rare, locally invasive vascular tumors that often present in infancy, most commonly as an enlarging cutaneous mass 1,2. They are classified as distinct from tufted angiomas in the ISSVA classification of vascular anomalies. However, some consider it to be on ...
Article
Neuroblastoma
Neuroblastomas are tumors of neuroblastic origin. Although they may occur anywhere along the sympathetic chain, the vast majority arise from the adrenal gland.
They represent the most common extracranial solid childhood malignancy and are the third most common childhood tumor after leukemia and...
Article
Congenital diaphragmatic hernia
Congenital diaphragmatic herniation (CDH) accounts for a small proportion of all diaphragmatic herniae. However, it is one of the most common non-cardiac fetal intrathoracic anomalies.
Epidemiology
Congenital diaphragmatic hernias are seen in 1 of every 2000-4000 live births. 84% are left-side...
Article
Ascites
Ascites (hydroperitoneum is a rare synonym) is defined as an abnormal amount of intraperitoneal fluid.
Terminology
Ascites (plural is the same word) tends to be reserved for relatively sizable amounts of peritoneal fluid. The amount has not been defined formally. It is noted physiologically, h...
Article
Echogenic fetal bowel
Echogenic fetal bowel is an observation in antenatal ultrasound imaging, in which fetal bowel appears to be brighter than it is supposed to be. It is a soft marker for trisomy 21 and has several other associations. When observed, it needs to be interpreted in the context of other associated abno...
Article
Crohn disease
Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common.
Epidemiology
The diagnos...
Article
Hirschsprung disease
Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized by a short segment of colonic aganglionosis affecting term neonates, especially boys.
Epidemiology
Hirschsprung disease affects approximately 1:5000-8000 live births. In short-...
Article
Hemimegalencephaly
Hemimegalencephaly is a rare congenital disorder of cortical formation characterized by hamartomatous overgrowth of all or part of a cerebral hemisphere. This overgrowth results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2.
Epidemiology
Hemimegal...
Article
Ciliopathies
Ciliopathies refer to diseases due to malfunctioning cilia (singular: cilium). Cilia are organelles that are external extensions of the cell membrane. Cilia fall into two main types: primary (or immotile) cilia and motile cilia.
Clinical presentation
Primary cilia are found in virtually every...
Article
Meningocele
Meningoceles (also spelled meningocoele) are protrusions of the meninges through a defect or weak point in the skull or spine, usually involving the soft tissues beneath the surface of the skin. They are typically categorized into congenital, iatrogenic (e.g. following a craniotomy, sinus surger...
Article
Midgut volvulus
Midgut volvulus is a complication of bowel malrotation usually seen in neonates and infants. Presentation is usually with proximal small bowel obstruction and bilious vomiting. Without prompt treatment, there is a real and significant risk of small bowel ischemia, significant associated morbidit...
Article
Neurofibroma
Neurofibromas are benign (WHO grade 1) peripheral nerve sheath tumors that are usually solitary and sporadic. There is, however, a strong association with neurofibromatosis type 1 (NF1), particularly for the plexiform subtype.
Neurofibromas are generally divided into five morphological forms 1...
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