Articles

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More than 200 results
Article

Cervical thymus

The cervical thymus (plural: cervical thymi) refers to an ectopic location of the thymus in the neck above the level of the brachiocephalic veins. Clinical presentation A cervical thymus usually presents before adolescence as a painless unilateral midline or lateral neck mass. Pathology Etio...
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Wolman disease

Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs. This presents on imaging by hepatosplenomegaly and enlarged calcified adrenals. Clinical presentation Patients with Wolman disease typically present during the first ...
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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...
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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 ...
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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...
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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...
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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...
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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...
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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

Brainstem glioma

Brainstem gliomas are primary tumors most frequently involving the pons and are typically diagnosed in children. Terminology Brainstem glioma is not a formal diagnosis but rather a catch-all term encompassing a heterogeneous group that varies greatly in histology and prognosis. It was useful, ...
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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...
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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...
Article

Bent bone dysplasias (differential)

Bent bone dysplasias are a class of skeletal dysplasia included in a 2010 classification of genetic skeletal disorders 1: campomelic dysplasia Stuve-Weidemann dysplasia kyphomelic dysplasias, a diverse class, including congenital bowing of the long bones cartilage-hair hypoplasia (CHH; meta...
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Benign enlargement of the subarachnoid space in infancy

Benign enlargement of the subarachnoid spaces in infancy (BESS or BESSI) also known as benign external hydrocephalus (BEH) is, as per the name, a benign enlargement of the subarachnoid spaces in infants. It usually involves the frontal lobe subarachnoid spaces, and it is characterized clinically...
Article

Distal humerus physeal separation

Distal humerus physeal separation is seen in children under 3 years and is often associated with non-accidental injury 1. Clinical presentation The child will usually present with a reduced range of motion with swelling and ecchymosis around the joint 2. Pathology The injury can occur durin...
Article

Retinoblastoma

Retinoblastomas are the most common intraocular neoplasm found in childhood and with modern treatment modalities, are, in most cases, curable. On imaging, they are generally characterized by a heterogeneous retinal mass with calcifications, necrotic components and increased vascularization on D...

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