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.

178 results found
Article

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 the name implies, a benign enlargement of subarachnoid spaces seen in infancy. It usually involves the frontal lobe subarachnoid spaces, and it is characterised clini...
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Birth defects linked to antithyroid drug treatment in pregnancy

Birth defects linked to antithyroid drug treatment in pregnancy have for a long time been known to exist. A recent Danish register-based cohort study has assessed the degree of association of antithyroid drugs, such as methimazole (MMI) / carbimazole (CMZ) and propylthiouracil (PTU), and the spe...
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Blount disease

Blount disease refers to a local disturbance of growth of the medial proximal tibial epiphysis that results in tibia vara. The condition is commonly bilateral.  Epidemiology There is no recognised inheritance pattern.  Clinical presentation Clinically, the child often presents with leg bowin...
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Botryoid rhabdomyosarcoma

A botryoid rhabdomyosarcoma is a type of embryonal rhabdomyosarcoma and accounts for 5-10% of all rhabdomyosarcomas 6.  Epidemiology It tends to occur in paediatric population, often between birth and 15 years of age 7. Pathology Rhabdomyosarcomas generally have a nonspecific infiltrative ap...
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Brodie abscess

Brodie abscess is an intraosseous abscess related to a focus of subacute pyogenic osteomyelitis. Unfortunately, there is no reliable way radiographically to exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any age. It mi...
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Bronchogenic cyst

Bronchogenic cysts are congenital malformations of the bronchial tree (a type of bronchopulmonary foregut malformation). They can present as a mediastinal mass that may enlarge and cause local compression. It is also considered the commonest of foregut duplication cysts. Epidemiology Bronchoge...
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Bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop several weeks later in infants on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...
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Burkitt lymphoma

Burkitt lymphoma (BL) is an aggressive B-cell lymphoma that predominantly affects children. Epidemiology Burkitt lymphoma is the most common (40%) type of non-Hodgkin lymphoma in childhood. The median age of Burkitt lymphoma is eight years, and it has a male predominance (M:F = 4:1) 1. It is l...
Article

Café au lait spots

Café au lait spots are a type of pigmented skin lesions which are classically described as being light brown in colour.   Conditions associated with them include: neurofibromatosis type 1 (NF1) Jaffe-Campanacci syndrome McCune-Albright syndrome: typically irregular which has been likened to ...
Article

Canavan disease

Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterised by megalencephaly, severe mental and neurological deficits, and blindness.  Epidemiology Canavan...
Article

Caput succedaneum

Caput succedaneum is a manifestation of birth trauma, and it consists of a subcutaneous serosanguineous fluid collection beneath the newborn's scalp. The fluid collection is extra-periosteal. It may be imaged with ultrasound, CT, or MRI. Caput succedaneum results from pressure on the presenting...
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Cardiac rhabdomyoma

Cardiac rhabdomyomas are a type of benign myocardial tumour and are considered the most common fetal cardiac tumour. They have a strong association with tuberous sclerosis. Epidemiology Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumours in the paediatric pop...
Article

Cephalohaematoma

Cephalohaematomas are traumatic subperiosteal haematomas of the skull that are usually caused by birth injury. They are bound by the periosteum and, therefore, cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal haematoma, which can cross sutures. Epidemiology ...
Article

Cerebellar agenesis

Cerebellar agenesis is a rare congenital abnormality which can result from failure to develop normal cerebellar tissue or destruction of normally developed tissue. For a more general overview of cerebellar malformations, please refer to the article on classification systems for malformations of...
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Choanal atresia

Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral. Epidemiology It frequently presents in neonates where it is one of the commonest causes of nasal obstruction in this age group. There is a recognised female predilection. The incidence is ...
Article

Chondroblastoma

Chondroblastomas, also referred as Codman tumours, are rare benign cartilaginous neoplasms that characteristically arise in the epiphysis or apophysis of a long bone in young patients. Despite being rare, they are one of the most frequently encountered benign epiphyseal neoplasms in skeletally i...
Article

Chondrodysplasia punctata

Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. Pathology Subtypes It can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic c...
Article

Chondrolysis

Chondrolysis, also known as acute cartilage necrosis, is an acute cartilage destruction of the femoral head. It is one of the complications that are specifically associated with slipped capital femoral epiphysis (SCFE). It is a poorly understood phenomenon. Epidemiology The quoted incidence is...
Article

Choroid plexus papilloma

Choroid plexus papillomas are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumour which can occur in both the paediatric (more common) and adult population.  On imaging, these tumours are usually identified in the fourth ventricle in adults and in the lateral ventricles in...
Article

Chronic hip subluxation

Chronic hip subluxation most common occurs in paediatric patients with neuromuscular disorders (e.g. cerebral palsy). It is considered a form of developmental hip dysplasia.  Epidemiology Chronic hip subluxation occurs in ~45% of cerebral palsy patients who are not walking by 5 years of age 3....
Article

Clear cell sarcoma of the kidney

Clear cell sarcomas (CCS) of the kidney are a rare mesenchymal renal tumour that accounts for ~5% of primary renal neoplasms in paediatric population 1.  Epidemiology CCS is the second most common primary malignant renal neoplasm after Wilms tumour, with an annual incidence of 20 cases in the ...
Article

Congenital cataract

Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.  Epidemiology Incidence is ~3 per 100,000 in the United Kingdom 1. Will be higher in areas with increased rates of congenital infection 5. Risk factors low ...
Article

Congenital lobar overinflation

Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate's lung.  On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with o...
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Congenital muscular dystrophies (central nervous system manifestations)

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy.  Clinical presentation There is...
Article

Congenital portosystemic shunt

​Congenital portosystemic shunts are rare anatomical abnormalities linked to abnormal embryological venous development. They can be extrahepatic or intrahepatic. In either case, the underlying abnormality is shunting of blood from the portal venous system to the systemic venous system thus avoid...
Article

Congenital pseudoarthrosis of the clavicle

Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.  Clinical presentation Usually presents as a midclavicular swelling in the neonate or young child 1.  Pathology Congenital pseudoarthrosis of the clavicle is more commo...
Article

Congenital pseudoarthrosis of the tibia

Congenital tibial pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. Pathology The aetiology is unclear, how...
Article

Congenital radial head dislocation

Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes. Epidemiology Overall, congenital radial head dislocation is rare 2. Clinical presentation Congenital radial he...
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Congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound. Terminology While some use CTEV and club foot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes ...
Article

Congenital tracheo-oesophageal fistula

Congenital tracheo-oesophageal fistula is a congenital pathological communication between the trachea and oesophagus.   Epidemiology Tracheo-oesophageal fistula and oesophageal atresia have a combined incidence of approximately 1 in 3500 live births 1-3,5. There is only a minimal hereditary/ge...
Article

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great arteries, also known as levo- or L-loop transposition (L-TGA), is a rare cardiovascular anomaly with inversion of the ventricles and great arteries. Epidemiology This anomaly comprises less than 1% of all congenital heart diseases 1,2,7.  Clin...
Article

Cortical desmoid

Cortical desmoids, also known as cortical avulsive injuries or the Bufkin lesion, are a benign self-limiting entity. This is a classic "do not touch" lesion, and should not be confused with an aggressive cortical/periosteal process (e.g. osteosarcoma).  Terminology Cortical desmoid is a misnom...
Article

Craniosynostosis

Craniosynostosis refers to premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. Epidemiology There is a 3:1 male predominance. Pathology Primary forms are either sporadic or familial. Secondary craniosynosto...
Article

Cystic hygroma

Cystic hygroma, also known as cystic or nuchal lymphangioma, refers to the cystic variety of congenital lymphangioma which, most commonly, occur in the cervicofacial regions, particularly at the posterior cervical triangle.  Epidemiology  They usually occur in the fetal/infantile and paediatri...
Article

Dandy-Walker continuum

Dandy-Walker continuum, also referred as Dandy-Walker spectrum or Dandy-Walker complex, corresponds to a group of disorders believed to represent a continuum spectrum of posterior fossa malformations, characterised by a combined posterior fossa cyst communicating with the fourth ventricle as wel...
Article

Diastematomyelia

Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) when there is a longitudinal split in the spinal cord.  Terminology Although traditionally it has been distinguished from diplomyelia (in which the cord is duplicated rather ...
Article

Diffuse brainstem gliomas

Diffuse brainstem gliomas, also known as diffuse intrinsic brainstem glioma (DIBG), is a term used to describe infiltrating astrocytomas, no longer recognised as a distinct entity in the 2016 update to the WHO classification of CNS tumours. It encompassed a variety of tumours, ranging from WHO g...
Article

Double outlet right ventricle

Double outlet right ventricle (DORV) is a congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the morphologically right ventricle. It is reported to account for ~2% of congenital cardiac defects 1. It is usually classed as a conotruncal anomaly. There is almost always ...
Article

Ebstein anomaly

Ebstein anomaly is an uncommon congenital cardiac anomaly, characterised by a variable developmental anomaly of the tricuspid valve. Epidemiology The anomaly accounts for only ~0.5% of congenital cardiac defects 6-7, although it is the most common cause of congenital tricuspid regurgitation. T...
Article

Ectodermal dysplasia

Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic disorders that cause abnormal ectoderm development. The effect is a non-progressive defect in the development of two or more tissues derived from embryonic ectoderm.  Epidemiology ED is rare with an estimated prevalence of 1:...
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Embryonal tumours with multilayered rosettes (ETMR)

Embryonal tumours with multilayered rosettes (ETMR) are rare small round blue cell tumour of the central nervous system and are one of the most aggressive brain tumours usually encountered in children.  Terminology Previously embryonal tumours with multilayered rosettes (ETMR) where known as e...
Article

Encephalocoele

Encephalocoele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocoele where brain tissue and overlying meninges herniate out through a defect in the cranium.  Terminology It should be distinguished from cranial meningocele in which the lesion contains o...
Article

Endocardial fibroelastosis

Endocardial fibroelastosis (EFE) is a rare cardiac condition which is classically described in the paediatric population (typically first two years). It is one of the causes for infants to present with unexplained heart failure.  Pathology The condition results from increasing amounts of fibro...
Article

Enterovirus rhomboencephalitis

Enterovirus rhomboencephalitis is the most common neurological complication of enterovirus infection 1. Clinical presentation Enterovirus rhomboencephalitis causes acute and severe neurologic disorders such as ataxia, nystagmus, oculomotor palsies, or bulbar palsy. In some cases, neurologic af...
Article

Epiglottitis

Epiglottitis is a life-threatening condition caused by inflammation of the epiglottis and aryepiglottic folds 1,  which can lead to acute airway obstruction. Hence, treatment should be urgent and performed by appropriately trained individuals, e.g. instrumentation of the trachea should be perfor...
Article

Epispadias

Epispadias is a rare congenital anomaly that is almost always associated with bladder exstrophy.  Epidemiology It occurs in 1 in 30,000 births, with a male: female ratio of 3:1. Clinical presentation In males, three types are described - glandular, penile and complete. Glandular form is most...
Article

Erb palsy

Erb palsy, also known as brachial plexus birth palsy, is a form of obstetric brachial plexus injury as a result of complications during delivery.  Clinical presentation The most common cause is due to excessive lateral traction or stretching of the fetal head and neck in opposite directions du...
Article

Ewing sarcoma

Ewing sarcoma is the second most common highly malignant primary bone tumour of childhood after osteosarcoma, typically arising from medullary cavity with invasion of Haversian system. They usually present as moth-eaten destructive permeative lucent lesions in the shaft of long bones with large ...
Article

Exudative retinitis

Exudative retinitis (also known as retinal telangiectasis or Coats disease) is a rare congenital disease affecting the eyes and is a cause of leukocoria. Epidemiology The exact aetiology is unknown and the disease is a non hereditary disorder.  It occurs predominantly in young males, with the ...
Article

Febrile infection-related epilepsy syndrome

Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with status epilepticus in a previously normal child (or less commonly adult) after a febrile illness. Terminology FIRES has received several names in the literature: acute encep...
Article

Fibromatosis colli

Fibromatosis colli is a rare form of infantile fibromatosis that occurs within the sternocleidomastoid muscle (SCM). Epidemiology There may be a slight male predilection. It typically presents a few weeks after birth. Clinical presentation Presentation is usually with torticollis and is most...
Article

Fibrosing colonopathy

Fibrosing colonopathy a condition characterised by progressive submucosal fibrosis, particularly of the proximal colon. It is associated with high dose lipase supplementation used to treat exocrine insufficiency of the pancreas, such as in treatment for cystic fibrosis. Epidemiology It is more...
Article

Fibrous cortical defect

Fibrous cortical defects (FCD) are benign bony lesions and are a type of fibroxanthoma, histologically identical to the larger non-ossifying fibroma (NOF). Epidemiology Fibrous cortical defects typically occur in children (usually 2-15 years), and indeed are one of the most common benign bony ...
Article

Fibular hemimelia

Fibular hemimelia is a congenital lower limb anomaly characterised by partial or complete absence of fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1. Epidemiology Although rare in occurrence, it is the most common congenital absence of long bon...
Article

Ganglioneuroma

Ganglioneuromas are fully differentiated neuronal tumours that do not contain immature elements and potentially occur anywhere along the peripheral autonomic ganglion sites.  On imaging, usually, they present as well-defined solid masses and can be quite large at presentation. Generally, they a...
Article

Gastroschisis

Gastroschisis refers to extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions or the stomach and or liver) into the amniotic cavity through a para-umbilical abdominal wall defect.   Epidemiology The estimated incidence is at around 1-6 per 10,000...
Article

Germinal matrix haemorrhage

Germinal matrix haemorrhages, also know as periventricular-intraventricular haemorrhages (PVIH), correspond to the most common type of intracranial haemorrhage in neonates and are related to a perinatal stress affecting the highly vascularised subependymal germinal matrix. The majority of cases ...
Article

Granulocytic sarcoma

Granulocytic sarcoma (also called myeloid sarcoma and chloroma) is a rare neoplasm comprised of myeloid precursor cells. It can occur in association with: acute myeloid leukaemia (AML) chronic myeloid leukaemia (CML) other myeloproliferative disorders such as myelofibrosis with myeloid meta...
Article

Growth arrest lines

Growth arrest lines (also known as growth resumption lines or Harris lines) are alternating transverse rings of sclerosis at the metaphysis of a long bone. Pathology The radiographic finding occurs from alternating cycles of osseous growth arrest and growth resumption. This appears to result f...
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Hemimegalencephaly

Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth all or a part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2. Epidemiology Hemimegalencephaly is a cryptogen...
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Hepatic mesenchymal hamartoma

Hepatic mesenchymal hamartoma is an uncommon benign hepatic tumour. Some authors even consider this to be a developmental anomaly rather than a cystic neoplasm 9,12. Epidemiology It typically occurs in children and neonates, with most cases presenting within the first two years of life 3. Ther...
Article

Hepatoblastoma

Hepatoblastoma is the most common primary malignant liver tumour in children under four years of age who usually present with painless abdominal mass and raised AFP. It is tumour of embryonic origin. Epidemiology Most cases are seen during the first 18 months of life and diagnosis in adulthood...
Article

Hepatoblastoma histological classification

Although hepatoblastomas can be histologically classified into a variety of sub types, it is important to remember that with the possible exception of small cell undifferentiated sub type, prognosis is independent of histology when adjusted for stage gender and age 1. major categories epitheli...
Article

Hirschsprung disease

Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterised 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

Hydrocoele of the canal of Nuck

Hydrocoele of the canal of Nuck is a rare condition in female children caused by a failure of complete obliteration of the canal of Nuck 1. The canal of Nuck is an abnormal patent pouch of peritoneum extending anterior to the round ligament of the uterus into the labia majora 2. Incomplete oblit...
Article

Hypovitaminosis A

Hypovitaminosis A results from inadequate intake of vitamin A, fat malabsorption, or liver disorders and produces a variety of epithelial alterations.   Epidemiology The World Health Organization currently estimates that 45-122 countries have a vitamin A deficiency of public health significanc...
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Hypovitaminosis C (scurvy)

Scurvy (also known as Barlow disease in infants) is a condition characterised by an increased bleeding tendency and impaired collagen synthesis resulting in osteoporosis and impaired wound healing. It is caused by a dietary lack of vitamin C (ascorbic acid). Epidemiology Scurvy in adults is ra...
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Infantile haemangioma

Infantile haemangiomas are benign vascular neoplasms that correspond to the most common tumours of infancy. They virtually can occur anywhere, but the majority has a head and neck distribution. Characteristic growth and subsequent involution observed during the early childhood is the usual natur...
Article

Infantile hepatic haemangioma

Infantile hepatic haemangiomas (IHH) are a liver lesion composed of large endothelial-lined vascular channels seen in fetuses and neonates. It should not be confused with a hepatic epithelioid haemangioendothelioma, which occurs in older patients. Terminology Those benign tumours were previous...
Article

Interrupted aortic arch

Interrupted aortic arch (IAA) is an uncommon congenital cardiovascular anomaly where there is a separation between the ascending and descending aorta. It can either be complete or connected by a remnant fibrous band. An accompanying large ventricular septal defect (VSD) and/or patent ductus arte...
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Intestinal malrotation

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Although some individuals live their entire life with malrotated bowel without symptoms, the abnormality does predispose to mid...
Article

Intussusception

Intussusception occurs when one segment of bowel is pulled into itself or a neighbouring loop of bowel by peristalsis. It is also known as bowel telescoping into itself. It is an important cause of an acute abdomen in children and merits timely ultrasound examination and reduction to preclude s...
Article

Juvenile idiopathic arthritis

Juvenile idiopathic arthritis (JIA), also known as juvenile rheumatoid arthritis, is the most common chronic arthritic disease of childhood and corresponds to a group of different subtypes. Epidemiology The estimated incidence is ~13 per 100,000 per annum 3. By definition, symptoms must start ...
Article

Kartagener syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Article

Kawasaki disease

Kawasaki disease (KD) is a small to medium vessel vasculitis predominantly affecting young children. It can affect any body organ but there is a predilection for the coronary vessels. Pathology An autoimmune aetiology has been postulated. It is generally self limiting but acute fatalities are ...
Article

Kirner deformity

Kirner deformity is characterised by a curvature of the distal phalynx of the 5th digit in both a palmar and radial direction. Epidemiology The deformity typically presents in late childhood to early adolescence, although a mild deformity may be present at birth. Both sexes are affected, altho...
Article

Kniest dysplasia

Kniest dysplasia is rare type of short limbed skeletal dysplasia. Pathology Genetics It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a prote...
Article

Köhler disease

Köhler disease is an eponymous term referring to chilhood onset avascular necrosis of the navicular bone in the foot. Mueller Weiss syndrome is the adult counterpart of navicular bone avascular necrosis. 4,5 Epidemiology It typically presents in the paediatric population (4-6 years age) and th...
Article

Krabbe disease

Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive leukodystrophy.  Clinical presentation Can vary and depends on age of onset 5. hypertonia irritability delayed milestones loss of developed milestones fever myoclonus opisthotonus nystagmus Pathology ...
Article

L-2-hydroxyglutaric aciduria

L-2-hydroxyglutaric aciduria is a rare organic aciduria but has characteristic MRI findings especially in the early stages 1. This can allow for early diagnosis, often prior to biochemical investigations. Epidemiology As it is inherited in an autosomal recessive fashion, consanguineous marriag...
Article

Langerhans cell histiocytosis (skeletal manifestations)

The skeleton is the most commonly involved organ system in Langerhans cell histiocytosis (LCH) and is by far the most common location for single-lesion LCH, often referred to as eosinophilic granuloma (EG) (the terms are used interchangeably in this article). For a general discussion of this dis...
Article

Leptomeningeal cyst

Leptomeningeal cysts, also known as growing skull fractures, are an enlarging skull fracture that occurs near post-traumatic encephalomalacia. The term cyst is actually a misnomer, as it is not a cyst, but an extension of the encephalomalacia. Hence, it is usually seen a few months post-trauma. ...
Article

Lipoblastoma

Lipoblastoma is a rare, benign, encapsulated tumour arising from embryonic white fat.  It occurs primarily in infancy and early childhood (more than 90% before age 3). It most often occurs in the extremities and trunk, although it can be seen in other areas 1. The entity was originally describe...
Article

Lipoblastomatosis

Lipoblastomatosis is an uncommon presentation of a benign fatty neoplasm. The condition is more common in infants and young children. It differs from a lipoblastoma in that it is extensive and infiltrative.  Pathology Lipoblastomatosis consists of immature adipose tissue surrounding myxomatous...
Article

Lipomyelocele

Lipomyelocele is one of the most common closed spinal dysraphism. It is seen in thoracolumbar region and usually presents as a fatty subcutaneous mass. It is twice as common as lipomyelomeningocele. Clinical presentation Affected individuals are usually asymptomatic at birth, but many (~ 50%)...
Article

Lithopaedion

Lithopaedions, also referred as stone babies, are a rare phenomenon which occurs most commonly when a fetus dies during an ectopic pregnancy. Epidemiology The estimated incidence is at ~ 1.5 to 1.8% of abdominal ectopic pregnancies 4. Pathology If the dead fetus is too large to be re-absorbe...
Article

Luckenschadel skull

Luckenschadel skull, also known as lacunar skull or craniolacunae, is a dysplasia of the membranous skull vault and is associated with Chiari II malformations (seen in up to 80% of such cases). The inner table is more affected than the outer, with regions of apparent thinning (corresponding to n...
Article

Lymphangioma

Lymphangiomas are benign lesions of vascular origin that show lymphatic differentiation. It is considered the lymphatic equivalent of a haemangioma of blood vessels.  This article focuses the general features of lymphangiomas. For a specific discussion in other locations, please refer to the ar...
Article

Macrodystrophia lipomatosa

Macrodystrophia lipomatosa is a rare form of localised gigantism, and many terms have been used interchangeably, with resulting confusion. They include macrodactyly, megalodactyly, digital gigantism, macromelia, partial acromegaly, macrosomy, and limited gigantism 3. It is worth noting that  ma...
Article

Madelung deformity

Madelung deformity is due to premature closure or defective development of the ulnar third of the distal epiphysis of the radius.  This deformity results in a radial shaft that is bowed with increased interosseous space and dorsal subluxation of the distal radioulnar joint. It can be bilateral ...
Article

Major aortopulmonary collateral arteries

Major aortopulmonary collateral arteries (MAPCAs) are persistent tortuous fetal arteries that arise from the descending aorta and supply blood to pulmonary arteries in the lungs usually at the posterior aspect of hilum. Pathology Embryologically, the intersegmental arteries regress with the no...
Article

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a very rare metabolic disorder. It is an inborn error of amino acid metabolism, which classically affects the brain tissue resulting in impairment or death if untreated. Clinical presentation Manifests itself in the first few days of life (12-24 hours) with ...
Article

Meconium aspiration

Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, and usually in term or post-term infants. Pathology Aspirated meconium can cause small airways obstruction and a chemical pneumonitis. Radiographic features P...

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