126 results found
Article
Friedreich ataxia
Friedreich ataxia is the most common hereditary progressive ataxia.
Epidemiology
Thought to have an estimated prevalence of ~1:50,000. There is no recognized gender predilection.
Typically present in childhood to adolescence 11. Those with a higher number of trinucleotide repeats (>500) are t...
Article
Frontal lobe
The frontal lobe is by far the largest of the four lobes of the cerebrum (other lobes: parietal lobe, temporal lobe, and occipital lobe), and is responsible for many of the functions which produce voluntary and purposeful action.
Gross anatomy
The frontal lobe is the largest lobe accounting fo...
Article
Fucosidosis
Fucosidosis is a rare inherited autosomal recessive lysosomal storage disorder, hypomyelinating disorder, and mucopolysaccharidosis-like disorder, characterized by multiorgan accumulation of fucose-containing products.
Epidemiology
It is considered very rare, with approximately only 100 cases ...
Article
Galloway-Mowat syndrome
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly.
Epidemiology
Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
Article
Global cortical atrophy scale
The global cortical atrophy (GCA) scale, also known as the Pasquier scale, is a qualitative rating system developed to assess cerebral atrophy, especially in the context of neurodegenerative diseases. It evaluates atrophy in 13 brain regions assessed separately in each hemisphere and resulting i...
Article
Hemorrhagic shock and encephalopathy syndrome
Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare pediatric encephalopathy syndrome with a high mortality rate.
Epidemiology
Hemorrhagic shock and encephalopathy syndrome is considered rare, although the exact global incidence and prevalence is not known. The condition occurs in i...
Article
Hemiconvulsion-hemiplegia epilepsy syndrome
Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy.
It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Article
HIV-associated dementia
HIV-associated dementia (HAD), previously referred to as AIDS dementia complex (ADC), corresponds to a neurological clinical syndrome seen in patients with HIV infection. The associated imaging appearance is generally referred to as HIV encephalopathy.
Terminology
The terms HIV dementia comple...
Article
Hot cross bun sign (pons)
The hot cross bun sign refers to the MRI appearance of the pons when T2 hyperintensity forms a cross on axial images, representing selective degeneration of transverse pontocerebellar tracts and median pontine raphe nuclei 1.
It has been described in a variety of neurodegenerative and other con...
Article
HTLV-1-associated myelopathy
HTLV-1-associated myelopathy, also known as tropical spastic paraparesis, is primarily seen in Japan, Melanesia and the Caribbean and presents with chronic spastic paraparesis.
Terminology
This condition has been independently described in Japan (HTLV-1 associated myelopathy) and in the Caribb...
Article
Hurler syndrome
Hurler syndrome is one of the mucopolysaccharidoses (MPS type I).
Epidemiology
The estimated incidence is ~1:100,000.
Clinical presentation
It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Article
Hydrocephalus
Hydrocephalus denotes an increase in the volume of CSF, causing the distension of cerebral ventricles (ventriculomegaly) due to insufficient passage of the CSF from its point of production in the ventricles into the systemic circulation 7.
Terminology
Although hydrocephalus is typically referr...
Article
Hydrocephalus ex vacuo
Hydrocephalus ex vacuo, also known as compensatory enlargement of the CSF spaces, is a term used to describe the increase in the volume of CSF, characterized on images as an enlargement of cerebral ventricles and subarachnoid spaces, caused by encephalic volume loss.
Terminology
It can be clas...
Article
Hyperostosis frontalis interna
Hyperostosis frontalis interna is characterized by benign overgrowth of the inner table of the frontal bone. The etiology is unknown. The condition is generally an incidental finding of no clinical significance. It is typically bilateral and symmetrical and may extend to involve the parietal bon...
Article
Hypomelanosis of Ito
Hypomelanosis of Ito, also known as incontinentia pigmenti achromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems.
Epidemiology
The prevalence is unknown, being reported as between 1 per 8000 patients in a general pediatric hospital ...
Article
Incontinentia pigmenti
Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, especially the skin. As an X-linked dominant genetic disorder, it occurs much more often in females than in males.
Epidemiology
Incontinentia pigmenti is rare and the true pr...
Article
International panel for NMO diagnosis criteria
The 2015 International Panel for NMO Diagnosis criteria is, as the name implies, a set of criteria used to diagnose neuromyelitis optica spectrum disorder (NMOSD) 1. They are based on a combination of clinical, laboratory, and neuroimaging findings.
Criteria
Diagnostic criteria for NMOSD with ...
Article
Interpeduncular angle
The interpeduncular angle is defined as the angle formed by the posterior half of the cerebral peduncles on axial images. The interpeduncular angle has been proposed as a sensitive and specific measure of intracranial hypotension (reduced) and progressive supranuclear palsy (PSP) (increased)1,2....
Article
Interseptal distance
The interseptal distance (ISD) is a measurement used to assess septal area atrophy as a marker for neurodegenerative conditions in patients with memory problems 1.
It is proposed that atrophy of the septal nuclei can commonly be seen in conditions associated with hippocampal atrophy, particular...
Article
Kabuki syndrome
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Epidemiology
The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
Clinical present...
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