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.

899 results found
Article

Hunka classification of neonatal septic arthritis of the hip

Type I: Absent or minimal femoral head changes. Type II: A: deformity of the femoral head with intact physis. B: deformity of the femoral head with premature physeal closure. Type III: Pseudarthrosis of the femoral neck. Type IV: A:Complete destruction of the capital femoral epiphysis wit...
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Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). It carries an autosomal recessive inheritance and manifests in the first years of life. It is clinically characterised by mental retardation, corneal clouding, deafness and cardiac disease, with death resulting in the first decad...
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Hutchinson syndrome

Hutchinson syndrome is limping and irritability due to skeletal metastases from neuroblastoma. It should not be confused with: Hutchinson triad Hutchinson pupil Hutchinson freckle Hutchinson teeth Hutchinson sign History and etymology Described by Sir Robert Grieve Hutchison (1871-1960),...
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Hybrid lesion (paediatric chest)

A hybrid lesion in paediatric chest radiology refers to a combination of a congenital pulmonary airways malformation (CPAM) and a pulmonary sequestration (most commonly extralobar). It falls under a type of bronchopulmonary foregut malformation. Due to more sophisticated imaging, they are increa...
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Hydranencephaly

Hydranencephaly is a rare encephalopathy that occurs in-utero. It is characterised by destruction of the cerebral hemispheres which are transformed into a membranous sac containing cerebrospinal fluid and the remnants of cortex and white matter 1. Porencephaly is considered a less severe degree...
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Hydrocele of the canal of Nuck

Hydrocele 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 oblite...
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Hydronephrosis (grading)

Grading systems of hydronephrosis have been devised to communicate the degree of upper collecting system dilatation. The most common system used (Society of Fetal Ultrasound, SFU) was originally designed for grading neonatal and infant hydronephrosis: grade 0 no dilatation, calyceal walls are ...
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Hypertrophic pyloric stenosis (ultrasound measurements mnemonic)

Hypertrophic pyloric stenosis can be characterised in ultrasound studies by the measurements of the hypertrophic muscle. Although the criteria can vary from publication to publication, an easy way to keep in mind those values is remembering the first digits of the number "pi", also represented b...
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Hyperuricaemia

Hyperuricaemia is defined as elevated levels of uric acid (≥7 mg/dL) in the blood and may be caused by either urate overproduction or underexcretion. Clinical presentation Patients with hyperuricaemia may be asymptomatic or have symptoms and signs relating to one of the complications of hyperu...
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Hypervitaminosis A

Hypervitaminosis A results from an excess of vitamin A. It usually manifests in children, and one recognised cause is administration from 13-cis retinoic acid for treatment of cancers such as neuroblastoma. Pathology Manifestations can differ depending on whether it is an acute or chronic exce...
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Hypophosphatasia

Hypophosphatasia refers to a rare metabolic disorder characterised by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes). Epidemiology The true incide...
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Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...
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Hypoplastic right heart syndrome

Hypoplastic right heart syndrome is a congenital cardiac anomaly. It is characterised by an underdeveloped right side of the heart, including the right ventricle, tricuspid valve, pulmonary valve, and pulmonary arteries. Epidemiology It may be present in around 1.1% of stillbirths and is rarer...
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Hypospadias

Hypospadias refers to a type of congenital malformation affecting the male external genitalia. Epidemiology The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births. Pathology The urethral meatus is abnormally positioned proximally and ventrally to its normal position. It is thou...
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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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IgA vasculitis

IgA vasculitis (formerly known as Henoch-Schonlein purpura (HSP)) is a type of non-thrombocytopenic immune-mediated small vessel acute leukocytoclastic vasculitis. It tends to occur in the paediatric population (peak incidence 3-10 years) 3. In order to differentiate from other types of vascul...
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Ileal atresia

Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. This article will focus on ileal atresia alone but bear in mind that some cases correspond to jej...
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Imperforate hymen

Imperforate hymen is a congenital condition in which the hymen lacks a normal opening. Epidemiology It happens in 0.1% of the female population, usually an isolated finding.  Clinical features Primary amenorrhea with cyclic lower abdominal pain during menarche age. An imperforate hymen can b...
Article

Incomplete fracture

Incomplete fractures are a heterogeneous group of fractures that predominantly occur in the long bones of paediatric patients. Rang 1 describes a continuum of fractures that occur with increasing longitudinal force applied along the length of the bone. At the point where force exceeds the struct...
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Incomplete hippocampal inversion

Incomplete hippocampal inversion describes the situation where the normal inversion of the hippocampus fails to happen during development. Terminology Incomplete hippocampal inversion is the most correct description of this finding. Hippocampal malrotation is a term used by some authors 1 alth...
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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...
Article

Infantile haemangioma

Infantile haemangiomas are benign vascular neoplasms that are the most common head and neck 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 specif...
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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...
Article

Infectious mononucleosis

Infectious mononucleosis (also known as glandular fever) is the term for infection with Epstein-Barr Virus (EBV). The infection classically occurs in teenagers and young adults. It usually is diagnosed clinically supported by serum testing, but also may have suggestive imaging findings. Epidemi...
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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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Interatrial septal aneurysm

Interatrial septal aneurysm or atrial septal aneurysm (ASA) is defined as an abnormal protrusion of the interatrial septum. The exact length of the protrusion that defines an interatrial septal aneurysm varies in the literature, ranging from >11 mm to >15 mm beyond normal excursion in adults 4,5...
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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...
Article

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...
Article

Intracranial teratoma

Intracranial teratomas are uncommon intracranial neoplasms, which can have a bewildering variety of components and thus a wide range of appearances. They can be divided into two broad categories, intra- and extra-axial, which differ in epidemiology and clinical presentation. Another method of cl...
Article

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...
Article

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. When o...
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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 characteristic enlargement of one of the ischiopubic synchondroses. It is largely considered an anatomic variant of skeletal developmental, given that it is a common and usually asymptomatic finding. However, some cases are thought to be symptomatic and ma...
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...
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

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...
Article

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. Epidemiology Japan has the highest incidence in the world, with an annual incidence of 300/100,000 children under t...
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...
Article

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 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. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
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 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...
Article

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...
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

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...
Article

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...
Article

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...
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

Lasjaunias 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...
Article

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...
Article

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

Leg bowing in children

Leg bowing in children is common and often developmental. Differential diagnosis The differential includes: developmental bowing exaggeration of normal age-related angulation changes at the knee neonates and infants normally have varus angulation that gradually corrects within 6 months of w...
Article

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...
Article

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 ...
Article

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...
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

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...
Article

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...
Article

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...
Article

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy with calcifications and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and oedematous cysts. Epidemiology Leukoencephalopathy with calcifications and cysts is an extremely rare condition, w...
Article

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...
Article

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...

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