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.

858 results found
Article

Increased bone age

A generalised acceleration in bone maturation can result from a number of aetiological factors. They include: endocrine disorders idiopathic isosexual precocious puberty hypothalamic or parathalamic lesion with sexual precocity: e.g. craniopharyngioma astrocytoma hypothalamic hamartoma hy...
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Infantile cervical ligament oedema

Infantile cervical ligament oedema can typically be seen when infants have suffered accidental or abusive head and neck trauma. The finding is best seen on sagittal STIR images. Terminology The posterior ligamentous complex refers to the ligamentum flavum and interspinous ligaments. The anteri...
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Infantile haemangioma

Infantile haemangiomas are benign vascular neoplasms that are the most common tumours of infancy. They can occur virtually anywhere, but the majority are found in the head and neck regions. This article aims to be a generic discussion of the condition, for detailed and more specific imaging fea...
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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...
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Ingested foreign bodies in children

Ingested foreign bodies in children are common as the world is a curious place to young children, who will put anything and everything into their mouth, and will often inadvertently swallow.  The usual practice is for plain films of the chest/abdomen to identify a foreign body. Epidemiology P...
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Innominate artery compression syndrome

Innominate artery compression syndrome, also known as brachiocephalic artery compression syndrome, is a rare cause of tracheal stenosis that occurs in the paediatric population. Pathology It can only occur in the presence of an aberrantly positioned thymus that forces the aortic arch or innomi...
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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 failure

Intestinal failure is when a patient's native bowel is unable to digest and absorb  the food, electrolytes and fluids needed for normal growth and development.  Clinical presentation This often includes intractable diarrhoea, weight loss, dehydration, electrolyte imbalance, and malnutrition. ...
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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...
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Intestinal nonrotation

Intestinal nonrotation is a congenital anomaly of the intestines that results in the small bowel occupying the right side of the peritoneal cavity and the colon predominantly on the left. It is sometimes thought of as a subtype of intestinal malrotation. Epidemiology Nonrotation is estimated ...
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Intestinal transplant

Intestinal transplantation is a surgical treatment for intestinal failure. It is one of the most rarely performed transplant procedures performed, exclusively involving the transplantation of donor small bowel to a recipient, with an ileostomy formation.  Due to the high risk of complications w...
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Intra-abdominal calcification (neonatal)

Intra-abdominal calcification in a neonate can be caused by a number of pathologies that cause calcification within the peritoneal space or within organs. Pathology Aetiology Meconium peritonitis The commonest cause is meconium peritonitis which is the result of aseptic peritonitis secondary...
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Intracranial cystic lesions in the perinatal period

Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes: Supratentorial cystic lesions cysts arachnoid cyst choroid plexus cyst connatal cyst holoprosencephaly multicystic encephalomalacia periventricular leukomalacia porencephalic cys...
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Intramembranous ossification

Intramembranous ossification describes the process of ossification from mesenchymal cells (stem cells) without a cartilaginous template and is involved in the healing process of fractures. The stages of intramembranous ossification osteogenesis are as follows: mesenchymal cells differentiate in...
Article

Intraventricular haemorrhage of the newborn

Intraventricular haemorrhage of the newborn is a distinct entity and considered separately from intraventricular haemorrhage (IVH) in adults. In neonates, IVH is the result of germinal matrix haemorrhage, which ruptures through the ependymal lining and into the lateral ventricles. Other causes...
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Intussusception

Intussusception occurs when one segment of bowel is pulled into itself or a neighbouring loop of bowel by peristalsis. It is an important cause of an acute abdomen in children and merits timely ultrasound examination and reduction to preclude significant sequelae including bowel necrosis. Intu...
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Intussusception reduction

Intussusception reduction is a procedure performed in paediatric patients who have an ileocolic intussusception. There are several ways that reduction can be achieved radiologically: air-reduction under fluoroscopic guidance water-reduction under fluoroscopic guidance physical reduction unde...
Article

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry is the characteristic enlargement of one of the ischiopubic synchondroses. While it most commonly a normal variant of the developmental process, it is sometimes thought to be syndromic (then called ischiopubic synchondrosis syndrome or van Neck-Odelberg diseas...
Article

Isolated inferior vermian hypoplasia

Isolated inferior vermian hypoplasia (IIVH), also referred as part of Dandy-Walker variant (DWV), is a congenital malformation characterised by partial absence of the inferior portion of the cerebellar vermis. Terminology The term Dandy-Walker variant was created to include those malformations...
Article

Isomerism

Isomerism is a term which in general means 'mirror-image'. It is used in the context of heterotaxy and is of two types: left isomerism right isomerism Left isomerism Mirror image of the structures on the left side of the chest along the left-right axis of the body, i.e. patients with isomeri...
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Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
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Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder that can occur with variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologi...
Article

Jejunal atresia

Jejunal atresia is a congenital anomaly characterised by obliteration of the lumen of the jejunum. The site of the atresia can be anywhere from the ligament of Treitz to the jejunoileal junction. There can be more than one atretic segment. This article will focus on jejunal atresia alone but be...
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Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance. Clinical presentation There is a wide variability in the clinical presentation, but common features are: low birth weight hyp...
Article

Joubert syndrome

Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis.  Terminology When associated with anomalies of the kidneys, liver and/or eyes then the term Joubert ...
Article

J-shaped sella

A J-shaped sella is a variant morphology of the sella turcica, whereby the tuberculum sellae is flattened, thus forming the straight edge of the "J". The dorsum sellae remains rounded and forms the loop of the "J". Differential diagnosis Differential diagnosis for a J-shaped sella includes 1,2...
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Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:  growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomal...
Article

Juvenile granulosa cell tumour (ovary)

Juvenile granulosa cell tumours of the ovary (JGCT) are a less common subtype of granulosa cell tumour of the ovary (~5% of cases). They are classified as ovarian sex cord / stromal tumours. Epidemiology It typically occurs in premenarchal girls and young women. The mean age of presentation is...
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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 ...
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Juvenile nasopharyngeal angiofibromas (staging)

Staging of juvenile nasopharyngeal angiofibromas is performed with cross-sectional imaging and relies on the identification of local tumour extent, and invasion of adjacent spaces. For a discussion of this entity please refer to the parent article: juvenile nasopharyngeal angiofibroma.  The sta...
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Juvenile osteoporosis

Juvenile osteoporosis refers to osteoporosis occurring in children. Pathology Aetiology It can arise from a number of causes 1-4: primary conditions osteogenesis imperfecta Bruck syndrome osteoporosis pseudoglioma syndrome Ehlers-Danlos syndrome Marfan syndrome homocystinuria secondar...
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Juvenile polyposis syndrome

Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps. Epidemiology Presentation in the second decade is most common 2. Clinical presentation Rectal bleeding, bowel obstruction and intussuscept...
Article

Kabuki syndrome

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan. Epidemiology Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial. Pathology The cause for t...
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

Kasabach-Merritt syndrome

Kasabach-Merritt syndrome, also known as haemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumour is responsible for thrombocytopenia, microangiopathic haemolytic anaemia and consumptive coagulopathy. Pathology Vascul...
Article

Kasai classification

Kasai classification is used to describe the three main anatomical types of biliary atresia. Classification type I: obliteration of common bile duct (patent cystic and common hepatic duct) type II IIa: obliteration of common hepatic duct (patent cystic and common bile duct), sometimes with a...
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Kawasaki disease

Kawasaki disease 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 thoug...
Article

Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.  Clinical presentation The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...
Article

Kernicterus

Kernicterus, also known as chronic bilirubin encephalopathy, describes the chronic, toxic, permanent sequelae of high levels of unconjugated bilirubin on the central nervous system of infants. It is part of the spectrum of bilirubin-induced neurologic dysfunction, which also includes acute bilir...
Article

Keyhole sign (posterior urethral valves)

The keyhole sign is an ultrasonographic sign seen in boys with posterior urethral valves. It refers to the appearance of the proximal urethra (which is dilated) and an associated thick-walled distended bladder which on ultrasound may resemble a keyhole.
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...
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Klinefelter syndrome

Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal testes...
Article

Klippel-Feil syndrome

Klippel-Feil syndrome (KFS) is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis. Epidemiology There is a recognised female predilection 1. KFS has an incidence of 1:40,000-42,000 2. Clin...
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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...
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Köhler disease

Köhler disease is an eponymous term referring to childhood-onset osteonecrosis of the navicular bone in the foot. Mueller Weiss syndrome is the adult counterpart of navicular bone osteonecrosis 4,5 . Epidemiology It typically presents in the paediatric population (4-6 years of age) and there i...
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Krabbe disease

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

Kump's bump is a superior convexity of the growth plate located in the anteromedial quadrant of the distal tibia physis, which is the first site of physeal fusion. Closure usually occurs at about 12-13 years of age. The Kump's bump should not to be mistaken for a fracture or abnormal physeal fus...
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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...
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Labrune syndrome

Labrune syndrome, also known as leukoencephalopathy with calcifications and cysts, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and cysts. Epidemiology Labrune syndrome is an extremely rare condition, with no more than 10 cases reported in the li...
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Lacuna magna

Lacuna magna, also known as the sinus of Guérin, is a congenital blind-ended pouch located dorsal to navicular fossa of penis separated by fold and both share an external common opening to external urethral meatus. This diverticulum is located above and parallel to the urethra.  Epidemiology A...
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Ladd bands

Ladd bands are the most commonly encountered form of peritoneal bands in disarrangement of intestines, e.g. intestinal malrotation. Pathology Classically they extend from the abnormally positioned caecum to peritoneum and liver, crossing the duodenum in their course. Extension, however, can in...
Article

Langerhans cell histiocytosis

Langerhans cell histiocytosis (LCH) is a rare multi-system disease with a wide and heterogeneous clinical spectrum and variable extent of involvement.  Terminology Langerhans cell histiocytosis was previously known as histiocytosis X. The newer term is preferred as it's more descriptive of its...
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Langerhans cell histiocytosis (CNS manifestations)

The central nervous system (CNS) is an uncommonly involved organ system in Langerhans cell histiocytosis (LCH). Involvement of the CNS is related but distinct from involvement of the skull base or craniofacial structures, which are discussed separately in the article skeletal manifestations of L...
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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...
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Lasajunias classification of vein of Galen aneurysmal malformations

The Lasjaunias classification, at the time of writing (mid 2016), is one of the two commonly used systems for classifying vein of Galen malformations. It relies on dividing the entity into choroidal or mural types, depending on the number and origin of feeding arteries.  Classification choroid...
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Lateral epicondyle fracture

Lateral epicondyle fractures are rare epicondylar fractures. They are much rarer than medial epicondyle fractures and represent avulsion of the lateral epicondyle. They are usually seen in the setting of other injuries 1-3.  Epidemiology Incidence typically peaks in the paediatric age group (6...
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Lateral humeral condyle fracture

Lateral humeral condyle fractures also referred to simply as lateral condyle fractures (in the appropriate context), are relatively common elbow fractures that predominantly occur in children. They may be subtle but are hugely important to diagnose in a timely manner because if they are missed, ...
Article

Leaky lung syndrome

Leaky lung syndrome (LLS) refers to a form of non-cardiogenic pulmonary oedema. Pathophysiology  Pulmonary oedema due to increased capillary permeability.   Radiographic findings LLS is considered as mild form of a part of spectrum of acute lung injury with ARDS at the other end of spectrum ...
Article

Leg bowing in children

Leg bowing in children is common and often developmental. Differential diagnosis The differential includes: developmental bowing congenital bowing rickets scurvy Blount disease: tibia vara neurofibromatosis type 1 usually lateral bowing skeletal dysplasias  osteogenesis imperfecta ca...
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Legg-Calvé-Perthes disease (staging)

Staging of Legg-Calve-Perthes syndrome refers to x-ray abnormalities, and represents 4 phases of the disease: stage I: early asymmetric femoral epiphyseal size (smaller on the affected side) apparent increased density of the femoral head epiphysis widening of the medial joint space blurring...
Article

Leigh syndrome

Leigh syndrome, also known as subacute necrotising encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...
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Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological/ behavioural problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern. Epidemiology It is thought to often appear between the 2nd ...
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Lenticulostriate vasculopathy

Lenticulostriate vasculopathy also known as thalamostriate vasculopathy or mineralising vasculopathy 1, refers to the ultrasound appearance of hyperechogenic linear or branching tubular streaks in the thalami or basal ganglia of neonates. Epidemiology Lenticulostriate vasculopathy has been rep...
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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

Lethal omphalocele-cleft palate syndrome

Lethal omphalocele-cleft palate syndrome is, as the name suggests, characterised by the association of omphalocele and cleft palate.  Prevalence is assumed to be <1 per 1,000,000. It has been postulated that this syndrome is likely to be an autosomal recessive condition 1. History and etymolog...
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Leukodystrophies

The leukodystrophies are dysmyelinating disorders which typically, although not invariably, affect children. They include: lysosomal storage diseases globoid cell leukodystrophy (Krabbe disease) Fabry disease metachromatic leukodystrophy mucopolysaccharidoses Niemann-Pick disease peroxis...
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare inherited autosomal recessive leukodystrophy characterised by slowly-progressive pyramidal, cerebellar, and dorsal column dysfunction. Epidemiology Although considered rare, the exact prevalen...
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Liddle syndrome

Liddle's syndrome is an autosomal dominant condition which inhibits the normal degradation of the ENaC sodium channel, resulting in findings that mimic Conn's syndrome (hyperaldosteronism); hypernatraemia, hypokalaemia and elevated serum bicarbonate. Typically patients are asymptomatic other tha...
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Line of Klein

The line of Klein describes a line along the superior edge of the neck of the femur. It is useful in detecting early slipped upper femoral epiphysis​ in adolescents. The line should normally intersect the lateral part of the superior femoral epiphysis. If the line of Klein fails to intersect the...
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...
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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%)...
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Lipomyelomeningocele

Lipomyelomeningoceles are one of the forms of closed spinal dysraphism. They usually present as a subcutaneous fatty mass just above the intergluteal cleft. However, some lipomyelomeningoceles may occur at other locations along the spinal canal. Clinical presentation Lipomyelomeningoceles may ...
Article

Lissencephaly-pachygyria spectrum

The lissencephaly-pachygyria spectrum is useful in describing the spectrum of diseases that cause relative smoothness of the brain surface and includes: agyria: no gyri pachygyria: broad gyri lissencephaly: smooth brain surface It is a basket term for a number of congenital cortical malforma...
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Lissencephaly type II

Lissencephaly type II is characterised by reduction in normal sulcation, associated with a bumpy or pebbly cortical surface (thus the term cobblestone lissencephaly), absent in lissencephaly type I. Unlike type I lissencephaly which is the result of neuronal undermigration, type II is due to ove...
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Lissencephaly type I - subcortical band heterotopia spectrum

Lissencephaly type I, also known as classic lissencephaly, is a heterogeneous group of disorders of cortical formation characterised by a smooth brain, with absent or hypoplastic sulci and is strongly associated with subcortical band heterotopia (see classification system for cortical malformati...
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 deceased fetus is too large to be re-abs...
Article

Liver lesions (paediatric)

Paediatric liver lesions are a heterogeneous group that include infiltrative lesions and those that demonstrate mass effect. Moreover, they may be solitary or multiple, benign or malignant: benign liver tumours malignant liver tumours Epidemiology There are differing frequencies of both beni...
Article

Lobar holoprosencephaly

Lobar holoprosencephaly is the least severe of the classical subtypes of holoprosencephaly (HPE), characterised by the presence of the inter-hemispheric fissure along almost the entire midline, and with the thalami being completely or nearly completely separated 5. As with all types of HPE, it ...
Article

Loeys-Dietz syndrome

Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic syndrome which has many features similar to Marfan syndrome. The syndrome features a classical triad of 1: arterial tortuosity and aneurysms hypertelorism bifid uvula or cleft palate Pathology It is caused by mutations in the gene...
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

Lumbar Scheuermann disease

Lumbar Scheuermann disease is a type of variant Scheuermann disease where there are some radiological features of Scheuermann's disease without an abnormal kyphosis. On radiographs, affected individuals can have vertebral end plate changes, disc space narrowing, and anterior Schmorl's nodes, bu...
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

Lytic skull lesion

Lytic skull lesions have a relatively wide differential that can be narrowed, by considering if there are more than one lesion and whether the mandible is involved. Pathology Causes lytic skeletal metastases multiple myeloma epidermoid - scalloped border with a sclerotic rim eosinophilic g...
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, macrosomia, and limited gigantism 3. It is worth noting that  m...
Article

Macroglossia

Macroglossia means an enlarged tongue. It may be absolute (greater than the 95th centile) or relative (enlarged compared with oral cavity). Pathology Associations Recognised associations include: chromosomal anomalies Down syndrome tends to be a relative macroglossia may also have intermi...
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

Malignant liver tumours (paediatric)

Paediatric malignant liver tumours are rare, some of which occur only in children but that are similar to those that occur in adults. Epidemiology Malignant liver tumours account for ~1% of paediatric malignancies 2. Pathology Broadly, any malignant liver mass can be defined as a metastasis ...
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

Marshall-Smith syndrome

Marshall-Smith syndrome (MSS) is a rare genetic syndrome primarily comprising of the triad of facial dysmorphism, failure to thrive and accelerated osseous maturation 5. Many cases however have wider clinical spectrum. Clinical spectrum general overgrowth - fetal macrosomia failure to thriv...
Article

McKusick Kaufman syndrome

McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by hydrometrocolpos - vaginal atresia post-axial polydactyly congenital heart disease
Article

Meckel diverticulum

Meckel diverticulum is a congenital intestinal diverticulum due to fibrous degeneration of the umbilical end of the omphalomesenteric (vitelline) duct that occurs around the distal ileum. It is considered the most common structural congenital anomaly of the gastrointestinal tract. Epidemiology ...

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