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.
1,326 results found
Article
Complications of radiation therapy
Radiation therapy has the potential to cause complications in many organ systems, many of which, especially in the thorax, are important for radiologists to be aware of.
acute radiation syndrome
complications of cranial radiation therapy
radiation-induced cerebral vasculopathy
radiation-ind...
Article
Pediatric clavicle (AP view)
The anteroposterior clavicle view for pediatrics is part of a two view series examining the entirety of the clavicle and the sternoclavicular and acromioclavicular joints. This view is ideally performed erect, but supine may be necessary depending on the patient's level of distress and severity ...
Article
Effman Classification of urethral duplication
The Effman classification is a widely adopted system to classify the several distinct types of urethral duplication. It's considered to be the most complete classification from a clinical and functional point of view, but it's only based on male forms and does not distinguish sagittal from coron...
Article
Practical classification of forearm fractures
The practical classification of forearm fractures is a simple descriptive classification system commonly used when assessing forearm fractures, especially in the pediatric population.
Although simple, the classification provides a good guide to the management. These characteristics allow for a ...
Article
Scaphoid abdomen
Scaphoid abdomen is the term given to an inward concavity of the anterior abdominal wall. It is used both for the clinical appearance and its radiological equivalent.
In children it maybe a sign of congenital diaphragmatic hernia. In both adult and pediatric patients, it raises the possibility...
Article
Clavicle series (pediatrics)
The clavicle series for pediatrics is a two view series containing an anteroposterior and a cranially angled axial radiograph. Depending on the patient's level of distress and severity of the injury, adapting the radiographic technique to suit a child sitting in bed or lying supine may be necess...
Article
Mowat-Wilson syndrome
Mowat-Wilson syndrome is a rare disorder with a broad spectrum of congenital anomalies. It is caused by an abnormality in the ZFHX1B gene. Anomalies that may be recognized at birth or 1st year of life include:
CNS
seizures
intellectual disability
distinct facial profile
genitourinary abnor...
Article
Dragonfly sign
Dragonfly sign describes the appearance of the cerebellum on coronal images, which is seen secondary to cerebellar atrophy in pontocerebellar hypoplasia 1.
The sign is so called as the whole cerebellum resembles the shape of a dragonfly if one imagines the vermis is the body of the insect and t...
Article
Prognathism
Prognathism or mandibular prognathism refers to a type of morphological jaw positional anomaly in which the lower jaw protrudes ahead of the upper jaw. This results in an extended chin and dental malocclusion. It can be associated with certain conditions such as
acromegaly
syphilis - late cong...
Article
Pica
Pica refers to a psychiatric disorder in which patients report a craving for and compulsive consumption of substances that are not food. Substances consumed include earth, clay, plaster, paint chips, string, hair, animal feces and stones 1.
Epidemiology
Although the condition can present in a...
Article
CSF alpha-fetoprotein
Alpha-fetoprotein (AFP) in the cerebrospinal spinal fluid (CSF) has been reported as a tumor marker for some intracranial tumors with yolk sac elements, and teratoma 1.
Interpretation
Elevation
intracranial yolk sac tumor
intracranial embryonal carcinoma
congenital CNS tumors with yolk sac ...
Article
Pediatric shoulder (lateral view)
The lateral shoulder view in pediatrics is part of a two view series examining the shoulder joint, clavicle, scapula and proximal humerus.
Indications
This projection is an orthogonal view of the AP shoulder and is useful in pediatric imaging for identifying potential fractures or dislocation...
Article
Center edge angle of Wiberg
The center-edge angle (CEA) of Wiberg is a measurement in the pelvis which is the angle formed by Perkin line and a line from the center of the femoral head to the lateral edge of the acetabulum. It can be used to assess for conditions such as developmental dysplasia of the hip although only con...
Article
Suspected physical abuse - head injuries
Suspected physical abuse, also known as non-accidental injury (NAI), can result in a range of head injuries.
Pathology
Infants have a relatively large head size as compared to their body mass, weak neck muscles, large subarachnoid space, relatively flat skull base and pliable, thin skull. The ...
Article
Congenital pouch colon
Congenital pouch colons are an anomaly in which there is cystic dilation of a shortened colon. They can either partially or totally replace the colon.
Pathology
Associations
Congenital pouch colons can be associated with vaginal or vestibular fistulas and less frequently with other genitourin...
Article
Subhepatic appendicitis
Subhepatic appendicitis refers to inflammation of the appendix in which the appendix and cecum have failed to descend inferiorly during normal development; resulting in a "subhepatic" position.
Epidemiology
Presentation of an inflamed subhepatic appendix is exceedingly uncommon, representing o...
Article
Pediatric shoulder (AP view)
The anteroposterior shoulder view in pediatrics is part of a two view series examining the shoulder joint, clavicle, scapula and proximal humerus.
Indications
This projection demonstrates the shoulder joint in natural anatomical position and is used as an orthogonal view to the lateral should...
Article
Medulloepithelioma of the brain
Medulloepitheliomas of the brain are rare, highly malignant, primitive embryonic tumors derived from the primitive medullary plate and neural tube. These tumors, once considered distinct entities, are now thought to be a pattern of embryonal tumors with multilayered rosettes. Please refer to tha...
Article
Furuncle
A furuncle, also known as a boil, is an infected hair follicle with extension through the dermis into the subcutaneous soft tissues (cf. folliculitis, a more superficial hair follicle infection, with pus limited to the epidermis).
Epidemiology
Risk factors
Outbreaks of furunculosis are seen, ...
Article
Thalamo-occipital distance
The thalamo-occipital distance is a marker of ventricular size in infants. It is defined as the distance between the most posterior surface of the thalamus at its junction with the choroid plexus and the outermost point of the occipital horn in the parasagittal plane 1.
See also
ventricular in...
Article
Anterior horn width
The anterior horn width is a marker of ventricular dilatation. It is predominantly used in prenatal and neonatal imaging to determine ventriculomegaly.
Measurement
The anterior horn width is the diagonal width of the anterior horn at its widest point in the coronal plane 1. In neonates, this i...
Article
Lead pipe fracture
The term lead pipe fracture is the term for a radiographic appearance given to a simultaneous greenstick fracture of one side of the bone (usually metaphysis) with a buckle fracture of the opposing cortex of the same bone.
There are differing opinions in texts as to whether this term should be...
Article
Acute leukoencephalopathy with restricted diffusion
Acute leukoencephalopathy with restricted diffusion (ALERD) is a clinicoradiological spectrum of disease with clinical features of leukoencephalopathy and associated imaging findings where diffusion restriction is the dominant finding.
Radiographic features
The dominant radiological feature is...
Article
Doughnut sign (missed testicular torsion)
The doughnut sign, also known as the bull's-eye, halo or ring sign, is the name of a distinctive appearance of a missed testicular torsion on scrotal scintigraphy.
In a missed torsion (i.e. established testicular infarction), there is a reactive hyperperfusion of the ipsilateral dartos muscle ...
Article
Subependymal cyst
Subependymal cysts may either be postnatally acquired posthemorrhagic cysts or may be congenital (germinolytic). The congenital cysts may result from infection, ischemic injury, or hemorrhage.
Epidemiology
Most frequently seen in preterm infants, likely related to their persistent germinal mat...
Article
Intussusception (summary)
This is a basic article for medical students and other non-radiologists
Intussusception occurs when a loop of bowel is pulled into the lumen of a distal bowel loop, and is an important cause of acute abdominal pain, particularly in young children.
Reference article
This is a summary article; ...
Article
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
Clinical presentation
A few of the clinical features of this syndrome are:
syndactyly
zygomatic hypoplasia
delayed speech
microtia
hypoplastic nipples
excessive ...
Article
Night sweats
Night sweats, also known as sleep hyperhidrosis, are a common clinical complaint and may herald malignancy, especially lymphoma, or infections. Patients typically report waking up in the night with sweating so severe that their clothes and bed sheets are soaked through ("drenching sweats") and n...
Article
Dent disease
Dent disease is a very rare inherited renal disorder that is characterized by proximal tubule dysfunction.
Clinical presentation
polyuria
hypercalciuria, renal stones and nephrocalcinosis
proteinuria, although not presenting with nephrotic syndrome
glucosuria
aminoaciduria
phosphaturia
c...
Article
Parkes weber syndrome
Parkes Weber syndrome is a rare disease, depicted by capillary malformation, venous malformation, arteriovenous malformation and lymphatic malformation in the affected limb, hypertrophy of the bone, as well as soft tissues of the involved limb. Multiple AV malformation of the affected limb will...
Article
Shoulder series (pediatric)
The shoulder series for pediatrics is a two view series containing anteroposterior and lateral radiographs. Depending on the patient's level of distress and severity of the injury, adapting the radiographic technique to suit a child sitting in bed or lying supine may be necessary.
Indications
...
Article
Precipitous labor
Precipitous labor, also known as precipitous birth, is labor that happens too quickly, and is formally defined as fetal expulsion three hours or less after the start of regular uterine contractions. Contradictory and somewhat limited data demonstrates a higher risk of pregnancy-related complicat...
Article
Deferoxamine-induced bone dysplasia
Deferoxamine-induced bone dysplasia refers to abnormal bone development that may be present in patients undergoing iron-chelation therapy with deferoxamine. Deferoxamine is often used in patients with β thalassemia major for the prevention and treatment of transfusion-related secondary hemochrom...
Article
Parastremmatic dysplasia
Parastremmatic dysplasia is a rare skeletal dysplasia that is characterized by shortening of the trunk, joint contractures, limb deformities, a short stiff neck, malformation of the pelvis, kyphosis of thoracic spine and urinary incontinence.
Pathology
Parastremmatic dysplasia belongs to a gro...
Article
Neonatal aortic thrombosis
Neonatal aortic thrombosis is a rare life-threatening condition that can affect neonates admitted to the neonatal intensive care unit (NICU).
Epidemiology
The incidence of neonatal aortic thrombosis is 0.2% of neonates admitted to the NICU.
Risk factors
umbilical arterial catheters (UAC): ~8...
Article
Mitrofanoff procedure
The Mitrofanoff procedure, also known as appendicovesicostomy, is a surgical procedure where a conduit is created using the appendix to form a connection between the urinary bladder and skin surface. Intermittent catheterization is performed through the surgically constructed conduit, thus provi...
Article
Omodysplasia
Omodysplasia is an extremely rare short-limb skeletal dysplasia characterized by 1:
frontal bossing
depressed nasal bridge
anteverted nares
low-set ears
long philtrum
rhizomelia
short Humerus with hypoplastic distal humeri
elbow dislocation
radio-ulnar diastasis
flared metaphyses
shor...
Article
Pediatric thumb (AP/PA view)
The anteroposterior (AP) or posteroanterior (PA) view of the thumb in pediatrics is part of a two view series and is orthogonal to the lateral view. Often the decision to choose between the AP or PA thumb depends on what the child can manage and how agitated they are. An AP thumb is ideal as the...
Article
Pediatric humerus (lateral view)
The lateral humerus view for pediatrics is part of the humerus series and is usually taken in a standing position. However, it can also be obtained in a supine position.
The projection demonstrates the humerus orthogonal to the AP view, allowing for adequate radiographic examination of the enti...
Article
Cerebral palsy
Cerebral palsy is a spectrum of developmental disorders that result from an insult to the developing brain in utero or early life. Characteristically, muscle tone and movement are affected but there is wide variation in the degree to which each individual is affected 1.
Epidemiology
The incide...
Article
Anterior vertebral body tether (AVBT)
Anterior vertebral body tethering (AVBT) is a fusionless technique for treating and managing idiopathic scoliosis in skeletally immature patients to reduce the typical side effects of rigid posterior fusion (such as loss of spinal motion and risks adjacent segment degeneration later in life) 1,3...
Article
Pediatric thumb (oblique view)
The oblique thumb view in pediatrics is an additional projection for thumb imaging. Typically, this view is not performed unless specified by the referring doctor or radiologist.
Indications
For pediatrics, this oblique view is only indicated when specifically requested. This view may help to...
Article
Vertical expandable prosthetic titanium rib (VEPTR) procedure
Vertical expandable prosthetic titanium rib (VEPTR) procedure is a surgical technique that was initially developed to treat thoracic insufficiency syndrome and then it was used in congenital scoliosis with rib abnormalities, and has since been successfully used to treat early-onset scoliosis wit...
Article
Pediatric appendicitis score
The Pediatric Appendicitis Score (PAS) is a clinical decision rule and predictor of the likelihood of acute appendicitis in the pediatric population 1.
Criteria
cough/percussion/hopping tenderness in right lower quadrant (+2)
anorexia (+1)
fever (+1)
nausea or emesis (+1)
tenderness in rig...
Article
Pediatric humerus (AP view)
The anteroposterior humerus view for pediatrics is part of the humerus series and is usually taken in a standing position. However, it can also be obtained in a supine position.
The projection demonstrates the humerus in its natural anatomical position allowing for adequate radiographic examina...
Article
Humerus series (pediatric)
The humerus series for pediatrics is a set of anteroposterior and lateral radiographs taken to investigate elbow joint pathology, often in the context of trauma.
As the elbow joint is also imaged in this series, being familiar with the order of elbow ossification is important in assessing the e...
Article
Anectasis
Anectasis is a term that describes primary atelectasis, as distinct from secondary atelectasis.
Anectasis refers to the failure of the lung to expand fully at birth.
See also
atelectasis
Article
Posterior instrumentation and fusion (scoliosis)
Posterior instrumentation and fusion is a surgical technique to improve spinal curvature in scoliosis patients.
Procedure
The vertebral column is manipulated into the desired position and held in place with metalwork namely pedicle screws and/or hooks transfixed with rods with or without in si...
Article
Congenital scoliosis
Congenital scoliosis refers to scoliosis resulting from a congenital abnormality of the vertebra, e.g. a segmentation or fusion defect.
Terminology
There are several definitions of congenital scoliosis. Some authors include neurological congenital causes. In this article, our focus will only ...
Article
Neuromuscular scoliosis
Neuromuscular scoliosis is a term that can be used to describe scoliosis that is caused by underlying brain, spine or muscular conditions. While the underlying conditions can be a very broad group of disparate conditions, they tend to result in similar spinal curves.
Radiographic features
Neur...
Article
Immune thrombocytopenia
Immune thrombocytopenia (ITP) was historically known as idiopathic thrombocytopenic purpura (see Terminology section). It is characterized by an immune-mediated decrease in platelet numbers to <100x109/L and in most cases is primary, i.e. no underlying cause is found.
Terminology
Historically,...
Article
Pediatric thumb (lateral view)
The lateral thumb view for pediatrics is part of a two view series examining the distal metacarpal, distal and proximal phalanges.
Indications
This projection is useful for diagnosing fractures and localizing foreign bodies in pediatric patients. It also presents as an orthogonal view of the ...
Article
Pediatric Appendicitis Risk Calculator
The Pediatric Appendicitis Risk Calculator (pARC) is a clinical decision rule and predictor of the likelihood of acute appendicitis in pediatric patients. Due to the non-categorical data of some variables within the criteria, an integrated calculator is required to use this tool.
Criteria 1,2
...
Article
Idiopathic scoliosis
Idiopathic scoliosis describes scoliosis that has no clinically or radiologically identifiable underlying cause. It is the dominant type of scoliosis with ~80% of all scolioses being idiopathic.
Pathology
Idiopathic scoliosis can be classified by age into:
adolescent idiopathic scoliosis (>11...
Article
Pediatric finger (oblique view)
The oblique finger view for pediatrics is an additional view examining the distal metacarpal, distal, middle and proximal phalanges of the finger of interest.
Indications
To minimize radiation dose, only the PA and lateral finger views are typically performed for pediatrics. However, the obli...
Article
Dentomaxillofacial Radiology
Dentomaxillofacial Radiology (DMFR) is the official journal of the International Association of Dentomaxillofacial Radiology (IADMFR) and is published by the British Institute of Radiology (BIR); it was first published in 1972. Its primary focus is head and neck imaging and oral radiology.
Its ...
Article
Iris sign
The iris sign is the imaging appearance of deep medullary venous thrombosis/congestion-related white matter injury in neonates created by fan-shaped, outwards radiating hemorrhages or cytotoxic edema in the subcortical and periventricular cerebral white matter. The appearance resembles the flowe...
Article
Focal cerebral arteriopathy of childhood
Focal cerebral arteriopathy of childhood, also known as transient cerebral arteriopathy, is characteristically an acute monophasic disease, with unilateral stenosis of the distal internal carotid artery and/or the proximal middle/ anterior cerebral arteries, causing infarction in the lenticulost...
Article
P sign
The alphabet P sign, or just P sign, is a sonographic finding in acute epiglottitis. Using point of care ultrasound (POCUS), on a longitudinal view at the level of the thyrohyoid membrane, a P-shaped hypoechogenicity is apparent. The curved portion of the P is formed from the edematous epiglotti...
Article
Fuhrmann syndrome
Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by 1,2:
hypoplasia of pelvis
bowing of femur bone
polydactyly
hypoplastic fibula
symmetrical fingernail deficiency 4
tooth anomalies 5
malformed thumbs 8
It is a syndrome in which there is a partial l...
Article
Odontoid process agenesis
Odontoid process agenesis is rare, occuring due to a lack of failure of ossification of the odontoid process. It is seen in patients with spondyloepiphyseal and spondylometaphyseal dysplasia 1,2.
Radiographic features
Plain radiograph
On plain film, odontoid process agenesis appears small, as...
Article
Kasai portoenterostomy
Kasai portoenterostomy is the surgery that comprises exposing the porta hepatis by radical excision of all bile duct tissue up to the liver capsule and attaching a Roux-en-Y loop of jejunum to the uncovered liver capsule above the bifurcation of the portal vein creating a portoenterostomy 1.
In...
Article
Thyroid nodules in pediatric patients
Thyroid nodules in pediatric patients are much less common than in adults but raise greater concern due to higher rates of malignancy.
Epidemiology
Thyroid nodules are much less common in children, with an estimated prevalence of around 1-2% 4, compared with adults but have higher rates of ma...
Article
Megalocornea
Megalocornea is a rare bilateral congenital ocular defect characterized by a corneal diameter of more than 13 mm with the deep anterior chamber and normal intraocular pressure 1-3.
Epidemiology
Megalcornea is associated with Chordin-like 1 (CHRDL1) gene mutation 1,2. It is associated with mult...
Article
Mercedes Benz craniosynostosis syndrome
Mercedes Benz pattern craniosynostosis also known as pure bilateral lambdoid and sagittal synostosis (BLSS) is a pattern of craniosynostosis 1,2.
Epidemiology
The estimated incidence is at around 0.3 - 0.7 % 3.
Clinical presentation
Cognitive function is grossly normal. Dolichocephalic hea...
Article
Connective tissue disease
The connective tissue diseases or disorders (CTDs), also known as collagen vascular diseases, form a large heterogeneous group of conditions that are linked by a disease process that primarily involves the connective soft tissues of the body and often the vasculature too, due to shared structura...
Article
Multisystem inflammatory syndrome in children
Multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome (PIMS) is an emerging pediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic.
Terminology
The World Health Organiz...
Article
Wassel classification for radial polydactyly
The Wassel classification system is used to classify pre-axial polydactyly, also called radial polydactyly.
The classification system is based on the level of duplication from distal to proximal.
I: bifid distal phalanx
II: duplicated distal phalanx
III: bifid proximal phalanx
IV: duplicate...
Article
Pediatric finger (lateral view)
The lateral finger view for pediatrics is part of a two view series examining the distal metacarpal, distal, middle and proximal phalanges of the finger of interest. The patient position can vary depending on which finger is being imaged.
Indications
This projection is useful for diagnosing f...
Article
Catel-Manzke syndrome
Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
Article
Orbital lymphangioma
Orbital lymphangiomas, also known as orbital venous lymphatic malformations, are congenital benign orbital vascular malformations composed of variable venous and lymphatic components.
Epidemiology
Orbital lymphangiomas are common in children.
Clinical presentation
orbital swelling and propto...
Article
Pseudoachondroplasia
Pseudoachondroplasia (PSACH) refers to a type of osteochondrodysplasia.
Clinical presentation
It is characterized by:
rhizomelic dwarfism
limb and vertebral deformities
joint laxity
early onset osteoarthrosis
Furthermore, typically there is an absence of abnormality and a normal craniofac...
Article
Calcifying aponeurotic fibroma
Calcifying aponeurotic fibromas, also known as juvenile aponeurotic fibromas or just aponeurotic fibromas are superficial benign potentially recurrent fibroblastic soft tissue tumors usually seen in the palms and soles of children and adolescents 1,2.
Epidemiology
Calcifying aponeurotic fibro...
Article
Inclusion body fibromatosis
Inclusion body fibromatosis is a superficial benign myofibroblastic tumor characterized by eosinophilic intracytoplasmatic inclusions, which is typically seen in infancy and features a propensity for local recurrence.
Terminology
Acceptable alternative terms include infantile digital fibroma o...
Article
Juvenile hyaline fibromatosis
Juvenile hyaline fibromatosis, also known as hyaline fibromatosis syndrome or infantile systemic hyalinosis is a rare autosomal recessive syndrome outlined by painful, abnormal, often deforming deposits of hyalinized fibrous material in the extracellular matrix of the skin, subcutaneous soft tis...
Article
Lipofibromatosis
Lipofibromatosis refers to a rare unspecified/borderline slow-growing soft tissue tumor prone to recurrence, which is often found in the hands and feet of children.
Terminology
Infantile or juvenile fibromatosis variant is an alternative term, which has been used but is now discouraged 1.
Ep...
Article
Gardner fibroma
Gardner fibromas are benign fibrous plaque-like soft tissue masses formed by a haphazard arrangement of collagen fibers.
Terminology
An acceptable alternative term for Gardner fibroma is Gardner associated fibroma, the term desmoid precursor lesion is now discouraged 1.
Epidemiology
Gardner ...
Article
Infantile fibrosarcoma
Infantile fibrosarcomas are locally aggressive rarely metastasizing fibroblastic tumors found in the pediatric population.
Terminology
Other acceptable terms include congenital fibrosarcoma, infantile fibrosarcoma-like tumor, cellular congenital mesoblastic nephroma 1.
Epidemiology
Infantile...
Article
Absent posterior limb sign
The absent posterior limb sign is one of the main MRI findings of prognostic significance in term neonates with suspected hypoxic-ischemic brain injury. An absent posterior limb sign is defined as loss of the normally distinct hyperintensity on T1-weighted images in the posterior part of the pos...
Article
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome is a rare X-linked recessive disorder of pre- and postnatal overgrowth syndrome represented by mild to severe intellectual disability 3,7, anomalies of the musculoskeletal system, cardiovascular system, central nervous system, renal and gastrointestinal tract were ...
Article
Cerebellar cleft
Cerebellar clefts are rare congenital abnormalities of the posterior fossa, where cerebellar grey matter extends from the surface into the parenchyma, in some cases even reaching the fourth ventricle.
Clinical presentation
Language and speech disorders, cognitive impairment, truncal ataxia, o...
Article
Perlman syndrome
Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4.
Clinical presentation
Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramni...
Article
Pediatric finger (PA view)
The posteroanterior finger view for pediatrics is part of a two view series examining the distal metacarpal, distal, middle and proximal phalanges of the finger of interest.
Indications
This projection demonstrates the metacarpal and interphalangeal joint spaces in their natural anatomic posi...
Article
Legius syndrome
Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterized by multiple café-au-lait spots, with or without freckles and macrocephaly.
Epidemiology
More than 200 cases were reported between 2007 and 2013 1,3.
Although rare, it is estimated that up to 2% of patien...
Article
Riley-Day syndrome
Riley-Day syndrome, also known as familial dysautonomia, is a rare neurodevelopmental genetic autosomal recessive disorder that primarily affects the autonomic nervous system 1,9.
Epidemiology
Familial dysautonomia is more common in Ashkenazi Jews 1.
Clinical presentation
Recurrent aspiratio...
Article
Pediatric opioid use‐associated neurotoxicity with cerebellar edema (POUNCE) syndrome
Pediatric opioid use‐associated neurotoxicity with cerebellar edema (POUNCE) syndrome is a toxic encephalopathy in children with opioid overdose that features prominent cerebellar edema. Cerebellar predominance, along with variable supratentorial involvement, appears to be a distinct pattern of ...
Article
Van Wyk Grumbach syndrome
The Van Wyk Grumbach syndrome is characterized by chronic hypothyroidism with high levels of thyroid-stimulating hormone (TSH), delayed bone age, precocious puberty but lacking pubic and axillary hair growth 1.
Epidemiology
The acquired form of hypothyroidism is seen in children caused by chr...
Article
Ossification centers of the hand
Primary ossification centers present at birth
Visible on x-ray from birth:
metacarpal diaphyses: 9 weeks in utero
phalangeal diaphyses: 9-12 weeks in utero
Primary ossification centers developing after birth
Ossification of the carpal bones occurs in a predictable sequence, starting with th...
Article
Levene index
The Levene index or ventricular index is a marker of ventricular size in infants. It is defined as the distance between the falx and the lateral wall of the anterior horn of the lateral ventricle in the coronal plane 1.
Usage
The Levene index is a marker of ventricular volume and thus can be...
Article
Keutel syndrome
Keutel syndrome is an extremely rare inherited condition.
Clinical presentation
It is characterized by:
cartilage calcification of:
ears
nose
larynx
trachea - with resultant tracheobronchial stenosis
ribs
pulmonary arterial stenoses
brachytelephalangism (short fingers and nails that re...
Article
Pituitary blastoma
Pituitary blastomas are a very rare type of pituitary tumor.
Epidemiology
Pituitary blastomas typically affect children under 2 years old. They are almost pathognomonic for DICER1 syndrome and warrant testing for germ-line DICER1 mutation if found 1,2.
Clinical presentation
Pituitary blastom...
Article
Claustrum sign
The claustrum sign refers to the bilateral claustral involvement seen in febrile infection-related epilepsy syndrome (FIRES).
This sign is described on T2 and FLAIR sequences, seen as hyperintensity of both claustra during the acute phase and posterior hypointensity during the chronic phase if ...
Article
Juvenile recurrent parotitis
Juvenile recurrent parotitis (JRP) is a form of recurrent inflammatory parotitis occurring in childhood.
Epidemiology
JRP is considered the second most common cause of parotitis in childhood and commonly begins between 3 and 6 years of age.
Clinical presentation
Multiple episodes of parotid...