Search results for “also”
1,375 results found
Article
Focal cerebral arteriopathy of childhood
Focal cerebral arteriopathy of childhood (FCA), also known as transient cerebral arteriopathy (TCA), 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 ...
Article
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well a...
Article
Tubulinopathy
Tubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.
Clinical presentation
Some series report a high prevalence of seizures during infancy which may be the i...
Article
Polymorphous low grade neuroepithelial tumor of the young
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is an epileptogenic tumor of children and young adults. They are often considered part of the heterogeneous group of tumors known as long-term epilepsy-associated tumors (LEATs).
Terminology
First described in 2016 1, polymorpho...
Article
Hereditary spherocytosis
Hereditary spherocytosis (HS) (also known as Minkowski-Chauffard disease 1) is a group of hemolytic anemias due to a genetic abnormality of the erythrocyte cell membrane resulting in spherocytes. The clinical spectrum is broad, from a subclinical state to severe transfusion-dependant anemia.
Ep...
Article
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.
Epidemiology
Pituitary stalk interruption syndrome...
Article
Acetabular angle
The acetabular angle, also known as Sharp angle 6, is a radiographic measurement most commonly used to evaluate potential developmental dysplasia of the hip (DDH) in children and acetabular dysplasia in adults.
Usage
The acetabular angle is used in patients who have started to ossify the epiph...
Article
Diffuse brainstem glioma (historical)
Diffuse brainstem gliomas or diffuse intrinsic pontine gliomas was a term used to describe infiltrating astrocytomas arising in the brainstem, usually in children. It is no longer recognized as a distinct entity, removed from the 2016 update to the WHO classification of CNS tumors replaced by a ...
Article
Neuroblastoma
Neuroblastomas are tumors of neuroblastic origin. Although they may occur anywhere along the sympathetic chain, the vast majority arise from the adrenal gland.
They represent the most common extracranial solid childhood malignancy and are the third commonest childhood tumor after leukemia and b...
Case
Kartagener syndrome
Published
02 May 2024
92% complete
X-ray
CT
Article
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
Kartagener syndrome
Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Epidemiology
The prevalence of primary ciliary dyski...
Article
Waardenburg syndrome
Waardenburg syndrome is a rare neurocristopathy, with congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafn...
Article
Multicystic dysplastic kidney
Multicystic dysplastic kidney (MCDK) is a type of non-heritable pediatric cystic renal disease. It results in multiple cysts being formed in utero in the affected kidney.
Epidemiology
Unilateral incidence is estimated at 1:2500-4000. There may be a predisposition for the left kidney, a slightl...
Article
Pelviureteric junction obstruction
Pelviureteric junction (PUJ) obstruction/stenosis, also known as ureteropelvic junction (UPJ) obstruction/stenosis, can be one of the causes of obstructive uropathy. It can be congenital or acquired with a congenital pelviureteric junction obstruction being one of the commonest causes of antenat...
Article
Chiari I malformation
Chiari I malformation is the most common variant of the Chiari malformations and is characterized by a caudal descent of the cerebellar tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modality o...
Case
Vein of Galen malformation
Published
02 Nov 2015
92% complete
MRI
Article
Urethral duplication
Urethral duplication is a rare condition in which either a part of the entire urethra is duplicated. It usually occurs in the sagittal plane, and the more dorsal copy is usually the duplication.
Pathology
Urethral duplications may occur due to a variety of developmental anomalies. In females, ...
Case
Intussusception
Published
27 Mar 2024
94% complete
Ultrasound
Article
Bochdalek hernia
Bochdalek hernias , also known as pleuroperitoneal hernias, (alternative plural: herniae) are the commonest type of congenital diaphragmatic hernia. They occur posteriorly and are due to a defect in the posterior attachment of the diaphragm when there is a failure of pleuroperitoneal membrane cl...
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