Articles
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1,430 results found
Article
Aicardi syndrome
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).
Terminology
Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named ...
Article
Nasal dermoid cyst
Nasal dermoids (or nasal dermoid sinus cysts) are the most common congenital midline nasal lesion typically presenting in early childhood.
Epidemiology
Nasal dermoids are rare and account for only 4-12% of all dermoid cysts of the head and neck, far less common than angular dermoids 1,2. They ...
Article
Rhinolith
Rhinoliths, also known as nasal calculi, are uncommon lesions that result from a chronic inflammatory response to complete or partial mineralized encrustation of intranasal foreign bodies. They are most commonly seen in children and cognitively impaired adults who insert foreign bodies into thei...
Article
Focal cerebral arteriopathy of childhood
Focal cerebral arteriopathy of childhood (FCA), also known as transient cerebral arteriopathy (TCA), is characteristically an acute monophasic disease, with unilateral stenosis of the distal internal carotid artery and/or the proximal middle/anterior cerebral arteries, causing infarction in the ...
Article
Pediatric benign liver tumors
Pediatric benign liver tumors are a relatively rare, but important group of conditions. Importantly, the commonest cause of a benign liver tumor is specific to the pediatric population. The list in descending order of frequency is:
infantile hepatic hemangioma (previously hemangioendothelioma)
...
Article
Congenital cerebral toxoplasmosis
Congenital cerebral toxoplasmosis is a manifestation of congenital toxoplasmosis and refers to development of cerebral toxoplasmosis in the fetus through maternal transmission.
Please refer to congenital toxoplasmosis for a broad discussion on epidemiology and pathology.
Radiographic features...
Article
Pediatric tibia fibula (lateral view)
The pediatric tibia fibula lateral view is part of a two-view series of the entire tibia, fibula, and both the knee and ankle joint.
Indications
The tibia fibula lateral view is performed for evaluation of the lower leg in pediatric patients. It allows for assessment of fractures in trauma or...
Article
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.
Epidemiology
Pituitary stalk interruption syndrome...
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 currently classified as distinct from tufted angiomas in the ISSVA classification of vascular anomalies. However, some consider it...
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 commonest childhood tumor after leukemia and b...
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
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
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
Hemimegalencephaly
Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth of all or part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2.
Epidemiology
Hemimegalencephaly is a cryptoge...
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
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
Colonic transit study
The colonic transit study is an older technique to estimate colonic transit time.
Terminology
Various names are used for this type of study including shapes study, colon motility test, Sitz marker study and Transit-Pelletsmethod, and variations thereof.
Indications
In constipation, it can ...
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