A generalised acceleration in bone maturation can result from a number of aetiological factors. They include:
idiopathic isosexual precocious puberty
hypothalamic or parathalamic lesion with sexual precocity: e.g.
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.
The posterior ligamentous complex refers to the ligamentum flavum and interspinous ligaments. The anteri...
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...
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.
Those benign tumours were previous...
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.
Innominate artery compression syndrome, also known as brachiocephalic artery compression syndrome, is a rare cause of tracheal stenosis that occurs in the paediatric population.
It can only occur in the presence of an aberrantly positioned thymus that forces the aortic arch or innomi...
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...
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.
This often includes intractable diarrhoea, weight loss, dehydration, electrolyte imbalance, and malnutrition.
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...
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.
Nonrotation is estimated ...
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...
Intra-abdominal calcification in a neonate can be caused by a number of pathologies that cause calcification within the peritoneal space or within organs.
The commonest cause is meconium peritonitis which is the result of aseptic peritonitis secondary...
Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes:
Supratentorial cystic lesions
choroid plexus cyst
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...
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.
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.
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...
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...
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.
The term Dandy-Walker variant was created to include those malformations...
Isomerism is a term which in general means 'mirror-image'. It is used in the context of heterotaxy and is of two types:
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...
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...
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...
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...
Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance.
There is a wide variability in the clinical presentation, but common features are:
low birth weight
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.
When associated with anomalies of the kidneys, liver and/or eyes then the term Joubert ...
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 for a J-shaped sella includes 1,2...
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:
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
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.
It typically occurs in premenarchal girls and young women. The mean age of presentation is...
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.
The estimated incidence is ~13 per 100,000 per annum 3. By definition, symptoms must start ...
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.
Juvenile osteoporosis refers to osteoporosis occurring in children.
It can arise from a number of causes 1-4:
osteoporosis pseudoglioma syndrome
Juvenile polyposis syndrome, also referred as familial juvenile polyposis, is one of the polyposis syndromes and consists of hundreds of juvenile polyps.
Presentation in the second decade is most common 2.
Rectal bleeding, bowel obstruction and intussuscept...
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
The cause for t...
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.
The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
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.
Kasai classification is used to describe the three main anatomical types of biliary atresia.
type I: obliteration of common bile duct (patent cystic and common hepatic duct)
IIa: obliteration of common hepatic duct (patent cystic and common bile duct), sometimes with a...
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.
An autoimmune aetiology has been postulated. It is generally self-limiting but acute fatalities are thoug...
Kearns-Sayre syndrome (KSS), also known as oculocraniosomatic disorder, is a rare multisystem mitochondrial disorder.
The patient often presents with progressive external ophthalmoplegia 1. Neurologic symptoms develop in childhood or adolescence, usually before 20 years ...
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...
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.
Kirner deformity is characterised by a curvature of the distal phalynx of the 5th digit in both a palmar and radial direction.
The deformity typically presents in late childhood to early adolescence, although a mild deformity may be present at birth. Both sexes are affected, altho...
Klinefelter syndrome (KS) is a chromosomal anomaly, which in most cases is characterised by 47 chromosomes instead of the usual 46.
The estimated incidence is 0.15-0.2% of live births.
the testes are normal prior to puberty and small in post pubertal testes...
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.
There is a recognised female predilection 1. KFS has an incidence of 1:40,000-42,000 2.
Kniest dysplasia is rare type of short limbed skeletal dysplasia.
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...
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 .
It typically presents in the paediatric population (4-6 years of age) and there i...
Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive leukodystrophy.
Can vary and depends on the age of onset 5.
loss of developed milestones
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...
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.
As it is inherited in an autosomal recessive fashion, consanguineous marriag...
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.
Labrune syndrome is an extremely rare condition, with no more than 10 cases reported in the li...
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.
Ladd bands are the most commonly encountered form of peritoneal bands in disarrangement of intestines, e.g. intestinal malrotation.
Classically they extend from the abnormally positioned caecum to peritoneum and liver, crossing the duodenum in their course. Extension, however, can in...
Langerhans cell histiocytosis (LCH) is a rare multi-system disease with a wide and heterogeneous clinical spectrum and variable extent of involvement.
Langerhans cell histiocytosis was previously known as histiocytosis X. The newer term is preferred as it's more descriptive of its...
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...
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...
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.
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.
Incidence typically peaks in the paediatric age group (6...
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, ...
Leaky lung syndrome (LLS) refers to a form of non-cardiogenic pulmonary oedema.
Pulmonary oedema due to increased capillary permeability.
LLS is considered as mild form of a part of spectrum of acute lung injury with ARDS at the other end of spectrum ...
Leg bowing in children is common and often developmental.
The differential includes:
Blount disease: tibia vara
neurofibromatosis type 1
usually lateral bowing
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
Leigh syndrome, also known as subacute necrotising encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood.
Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...
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.
It is thought to often appear between the 2nd ...
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.
Lenticulostriate vasculopathy has been rep...
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.
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...
The leukodystrophies are dysmyelinating disorders which typically, although not invariably, affect children. They include:
lysosomal storage diseases
globoid cell leukodystrophy (Krabbe disease)
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.
Although considered rare, the exact prevalen...
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...
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...
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...
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.
Lipoblastomatosis consists of immature adipose tissue surrounding myxomatous...
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.
Affected individuals are usually asymptomatic at birth, but many (~ 50%)...
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.
Lipomyelomeningoceles may ...
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...
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...
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...
Lithopaedions, also referred as stone babies, are a rare phenomenon which occurs most commonly when a fetus dies during an ectopic pregnancy.
The estimated incidence is at ~ 1.5 to 1.8% of abdominal ectopic pregnancies 4.
If the deceased fetus is too large to be re-abs...
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
There are differing frequencies of both beni...
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 ...
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
bifid uvula or cleft palate
It is caused by mutations in the gene...
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...
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...
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...
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.
lytic skeletal metastases
epidermoid - scalloped border with a sclerotic rim
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...
Macroglossia means an enlarged tongue. It may be absolute (greater than the 95th centile) or relative (enlarged compared with oral cavity).
Recognised associations include:
tends to be a relative macroglossia
may also have intermi...
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 ...
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.
Embryologically, the intersegmental arteries regress with the no...
Paediatric malignant liver tumours are rare, some of which occur only in children but that are similar to those that occur in adults.
Malignant liver tumours account for ~1% of paediatric malignancies 2.
Broadly, any malignant liver mass can be defined as a metastasis ...
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.
Manifests itself in the first few days of life (12-24 hours) with ...
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.
overgrowth - fetal macrosomia
failure to thriv...
McKusick Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome primarily characterised by
hydrometrocolpos - vaginal atresia
congenital heart disease
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.