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Peroxisome biogenesis disorder

Peroxisome biogenesis disorders (PBDs) are autosomal recessive, inborn errors of peroxisomes, a eukaryotic cell organelle critical to the breakdown of very long chain fatty acids via beta-oxidation. Clinical presentation There are two main groups 1: Zellweger spectrum disorder (ZSD) Zellweg...

Robinow-Sorauf syndrome

Robinow-Sorauf syndrome (RSS) is a rare, autosomal dominant type of acrocephalosyndactyly syndrome (ACS). Rather than being a distinct ACS, it has now generally accepted that RSS is, in fact, part of the Saethre-Chotzen syndrome phenotypic spectrum 1. This is due to similar phenotype and both b...

Choroid (eye)

The choroid is part of the uveal layer of the eye along with the ciliary body and iris 1. Summary location: posterior aspect of the globe function: vascularization of the outer retina arterial supply: posterior ciliary arteries innervation: short ciliary nerves, long ciliary nerves relat...

Cingulate island sign

The cingulate island sign is a highly specific radiological sign described in dementia with Lewy bodies. It refers to the pattern of metabolism seen on FDG-PET in patients with dementia with Lewy bodies 1-3. On FDG-PET, there is occipital hypometabolism with relative sparing of the posterior ci...

Corticobulbar tract

The corticobulbar (or corticonuclear) tract originates primarily in Brodmann area 4 and exits at the brainstem to synapse on the lower motor neurons of the cranial nerves bilaterally. The exception to this bilateral connection is the facial nerve and hypoglossal nerve. Innervation to the lower h...

Anthrax

Anthrax is a zoonosis caused by Bacillus Anthracis. There are four types of anthrax: inhalational anthrax (also known as woolsorter's disease and ragsorter's disease), cutaneous anthrax, injection anthrax and intestinal anthrax. Epidemiology The disease burden of anthrax decreased so dramatica...

Osteolipoma

Osteolipomas, also known as ossified lipomas, are rare intracranial masses, typically located in the suprasellar cistern composed of mature adipocytes surrounding by calcified ossification 1. They are a variant of intracranial lipomas which elsewhere, with the exception of tubulonodular pericall...

Trigeminal nerve stimulator

Trigeminal nerve stimulators are devices intended for the treatment of trigeminal neuropathic pain (e.g. trigeminal neuralgia, post-herpetic, post-surgical, multiple sclerosis-associated trigeminal neuropathies), although evidence is lacking and implantation of devices, for this reason, is consi...

TDP-43 proteinopathy

The TDP-43 proteinopathies are a set of neurodegenerative disorders characterized pathologically by cytoplasmic inclusions composed of TDP-43. The pathology has been implicated in three major diseases: amyotrophic lateral sclerosis (vast majority of cases) frontotemporal lobar degeneration (sl...

Zika virus infection

Zika virus infection is a zoonosis which is associated with congenital birth defects, with microcephaly the most widely known. Epidemiology Zika was once isolated to Africa and Asia, however, it spread to the Americas in the last decade 1. There were thousands of cases confirmed in the America...

Human African trypanosomiasis

Human African trypanosomiasis, also known as African sleeping sickness, is an illness caused by one of two parasitic zoonoses: Trypanosoma brucei gambiense or Trypanosoma brucei rhodesiense. Epidemiology Human African trypanosomiasis is a disease endemic to sub-Saharan Africa. Within this regi...

Pickardt syndrome

Pickardt syndrome also known as Pickardt-Fahlbusch syndrome is a rare syndrome characterized by tertiary hypothyroidism, hyperprolactinemia and other pituitary hormone deficiencies resulting from interruption of the portal blood supply of the anterior pituitary via the infundibulum which drains ...

Limbic-predominant age-related TDP-43 encephalopathy (LATE)

Limbic-predominant age-related TDP-43 encephalopathy (LATE) is a common neurodegenerative disorder of elderly adults (usually >80 years old). It manifests clinically as amnestic dementia and pathologically as TDP-43 proteinopathy in limbic system structures such as the hippocampus. Terminology ...

Cerebellar mutism syndrome

Cerebellar mutism syndrome, also known as post-operative pediatric cerebellar mutism syndrome (pCMS), usually develops after resection of midline cerebellar or intraventricular tumors in the posterior cranial fossa. Typical features of this condition are transient mutism, ataxia, hypotonia and i...

Petalia

Petalia is an anatomic description of cerebral asymmetry where one of the cerebral hemispheres protrudes towards the other hemisphere and thereby causes an impression on the inner surface of the skull 1,2. Terminology The typical configuration in modern humans is the combination of a right fro...

Biotin deficiency

Biotin deficiency is very rare. Biotin is a vitamin which acts as an enzymatic cofactor with a key role in energy production and the synthesis of fats. Biotin is present in a diverse range of cereals, nuts, seeds and eggs. Hence, true deficiency is unusual. It has been observed in the following ...

Renal coloboma syndrome

Renal coloboma syndrome (also known as papillorenal syndrome) is a rare condition that primarily affects kidney and eye development. Affected individuals typically have hypoplastic kidneys, which can lead to end-stage renal disease. Approximately 10% of children with hypodysplastic kidneys have...

Subacute encephalopathy with seizures in alcoholics (SESA syndrome)

Subacute encephalopathy with seizures in alcoholics (SESA syndrome) is a rare complication of chronic alcohol use that can present with seizures and a variety of neurological deficits. Epidemiology SESA syndrome is rare and seen in alcoholics who are not undergoing withdrawal 1-3. Clinical ...

Spinal arteriovenous fistula

Spinal arteriovenous fistulas (spinal AVFs) are characterized by abnormal communication and shunting of blood from an artery to a vein of the spine that bypasses the capillary bed. Epidemiology Spinal arteriovenous fistulas represent approximately 70% of all spinal vascular malformations 1,2. ...

Abusive head trauma

Abusive head trauma is a term that is used for inflicted head injury that has occurred by either shaking, impact head trauma, or both, as part of the spectrum of non-accidental injury (NAI). Pathology Intracranial injuries Subdural hemorrhage in a child should be viewed with suspicion. Most o...

Vitamin B5 deficiency

Vitamin B5 deficiency, also known as hypovitaminosis B5, is extremely rare. Pantothenic acid (vitamin B5) is needed for the formation of coenzyme A, itself essential for the synthesis of acetylcholine and melatonin. Pantothenic acid is also required for normal functioning of the tricarboxylic ac...

Gluten ataxia

Gluten ataxia is a relatively common central nervous system manifestation of celiac disease and is usually encountered in individuals who do not have overt gastrointestinal symptoms. Epidemiology Gluten ataxia is encountered in both pediatric and adult celiac populations. It is a fairly commo...

Gluten-related disorders

Gluten-related disorders are a collection of conditions that are the result of a reaction to the consumption of gluten a protein found in wheat, barley and rye 1. Gluten-related disorders can be broadly divided into 1,2: celiac disease: most common and most widely recognized wheat allergy n...

Mercury

Mercury (chemical symbol Hg) is a liquid metallic element that historically was used in many medicines, but is now restricted due to legitimate concerns about mercury poisoning which is primarily found in seafood. Chemistry Basic chemistry Mercury is a silvery liquid at standard temperature a...

Oxygen

Oxygen (chemical symbol O) is one of the basic organic elements, and is a constituent of most of the known organic molecules - and therefore all lifeforms - on earth. Chemistry Basic chemistry Oxygen is a colourless odorless diatomic gas with an atomic number 8 and atomic weight 15.999. It h...

Dense vein sign

The dense vein sign refers to hyperattenuating thrombus within a cortical vein or dural venous sinus due to acute venous thrombosis. When located in the superior sagittal sinus, particularly posteriorly, it is sometimes referred to as the delta, triangle or pseudodelta sign. It is really the sa...

Time to peak (TTP)

Time-to-peak (TTP) is the time at which contrast concentration reaches its maximum. For example, for a particular dynamic susceptibility contrast (DSC) imaging acquisition in which images are acquired every 1.5 seconds, possible TTP values could include 20.0 seconds, 21.5 seconds, 23.0 seconds, ...

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses. Epidemiology More than 80 cases have been reported in the global literature since its f...

Granular cell tumor

Granular cell tumors are uncommon soft tissue tumors with the vast majority being benign (approximately 0.5-2.0% have been reported as malignant). Pathology Granular cell tumors have been reported in all organ systems, but most prominently are found in these sites 2,5: breast (granular cell ...

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative balance disorder and RFC1-related disease characterized by cerebellar ataxia, sensory neuronopathy (ganglionopathy), and bilateral vestibular hypofunction. Epidemiology The epidemiology is ...

Surgical positions

There are various classic surgical positions for patients to be placed in for procedures, which have been adopted/repurposed for interventional radiology and some diagnostic procedures: lithotomy position Trendelenburg position reverse Trendelenburg position lateral decubitus position Litho...

Transverse fissure

The transverse fissure (of Bichat) is the cerebral fissure that extends laterally from the ambient cistern towards the hippocampus. Gross anatomy The transverse fissure is the lateral extension of the ambient cistern that connects with the choroidal fissure superolaterally and hippocampal fiss...

Hippocampal sulcus

The hippocampal sulcus, or hippocampal fissure, is a sulcus within the hippocampal formation that separates the dentate gyrus from the subiculum. Gross anatomy The hippocampal sulcus is the inferior lateral extension of the transverse fissure (of Bichat), which in turn communicates with the am...

Ultrahigh field MRI

Ultrahigh field (UHF) magnetic resonance imaging refers to imaging done on any MRI scanner with a main magnetic field (B0) strength of 7 tesla or greater. Until recently purely a research tool, following the introduction of the first 7 T clinical scanner in 2017, there are now a slowly increasin...

Lysosomal storage disorders

Lysosomal storage disorders (LSDs) form a large group of clinical entities, more than forty now described, with the common etiological theme being the presence of dysfunctional lysosomal proteins, with the secondary accumulation of toxic metabolites inside the cellular lysosomes. Epidemiology ...

Intravenous drug user

Intravenous drug users (IVDU) are people who inject non-medical and controlled medical drugs (and may have substance use disorder) for non-medical purposes. Frequently injected drugs include heroin, cocaine, prescription opioids and methamphetamine 6. Terminology More neutral terms such as pe...

Saethre-Chotzen syndrome

Saethre-Chotzen syndrome (also known as type III acrocephalosyndactyly) is characterized by limb and skull abnormalities. Epidemiology It is the most common craniosynostosis syndrome and affects 1:25 - 50,000 individuals. Males and females are equally affected. Clinical presentation The spe...

Progressive postnatal pansynostosis

Progressive postnatal pansynostosis (PPP) is a rare form of craniosynostosis characterized by the late fusion of all cranial sutures. Epidemiology This type of craniosynostosis occurs insidiously after birth and presents later in life unlike other types of craniosynostosis which occur during t...

Emery-Dreiffus muscular dystrophy

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by childhood onset of contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Clinical course Weakness is slowly progressive, but there is a broad spectrum of clinical severity. P...

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy is rare form of muscular dystrophy characterized by ptosis and swallowing difficulties due to selective involvement of the muscles of the eyelid and pharynx. It can also affect other muscles such as the soleus and adductor magnus 1. Pathology It is thought to...

Decompression illness

Decompression illness (DCI) encompasses decompression sickness (DCS) and arterial gas embolism. The term decompression illness refers to inert bubble-induced dysbaric disease regardless of the location of the bubbles, which may be in the tissues or in the intravascular spaces. The bubbles arise ...

Vitamin B6 deficiency

Vitamin B6 deficiency (also known as hypovitaminosis B6) is rare, as the B6 vitamers are present in many commonly-consumed foodstuffs. It is most commonly seen in the context of chronic ethanol excess, although many other risk factors are known. In children, deficiency may manifest as seizures. ...

Muscular dystrophy

Muscular dystrophies refer to a broad group of conditions that result in increasing weakening and breakdown of skeletal musculature over time. These include Duchenne muscular dystrophy (considered most common) Becker muscular dystrophy facioscapulohumeral muscular dystrophy congenital musc...

Arterial vasocorona

The arterial vasocorona is part of the spinal cord blood supply and is formed by pial anastomoses between the anterior and posterior spinal arteries on the surface of the spinal cord. It encircles the cord and supplies the peripheral lateral aspect of the spinal cord. Engorgement of arterial v...

Expanded treatment in cerebral ischemia (eTICI) score

The expanded treatment in cerebral infarction (eTICI) score is a modified from the modified treatment in cerebral infarction (mTICI) and thrombolysis in cerebral infarction (TICI) scales. It was published by the HERMES investigators in 20191. Using modified Rankin scale (mRs) shift at 90 days a...

Flame sign (spinal cord metastasis)

The flame sign has been described as a helpful MRI sign of spinal cord metastases, enabling them to be distinguished from other enhancing spinal cord lesions (e.g. ependymoma, astrocytoma and hemangioblastoma) 1. Radiographic features MRI The flame sign is seen on sagittal post contrast T1 w...

Rim sign (spinal cord metastasis)

The rim sign has been described as a helpful MRI sign of spinal cord metastases, enabling them to be distinguished from other enhancing spinal cord lesions (e.g. ependymoma and astrocytoma). Radiographic features MRI The rim sign is seen on sagittal post contrast T1 weighted imaging of the s...

Medial pontomedullary membrane

The medial pontomedullary membrane is an arachnoid membrane located anterior to the lower brainstem, separating prepontine cistern (above) from the premedullary cistern (below) 1.

Lateral pontomesencephalic membrane

The lateral pontomesencephalic membrane is an arachnoid membrane located lateral to the brainstem at the level of the pontomesencephalic junction, separating the ambient cistern (above) form the cerebellopontine cistern (below) 1.

Anterior pontine membrane

The anterior pontine membrane is an arachnoid membrane located anteriorly in the posterior fossa to the side of the basilar artery, separating the prepontine cistern (medially) form the cerebellopontine cistern (laterally) 1. The abducens nerve (CN VI) travels within the membrane as it ascends...

Arachnoid membranes

Arachnoid membranes represent sheet-like connective tissue that crosses the subarachnoid space, from the pia mater to the arachnoid mater, dividing the subarachnoid space into cisterns. A number of these membranes are named 1: Liliequist membrane: separates the chiasmatic cistern and interpedun...

Disproportionately enlarged subarachnoid space hydrocephalus (DESH)

Disproportionately enlarged subarachnoid space hydrocephalus (DESH) is a pattern of communicating hydrocephalus characterized by crowding of the sulci superiorly near the vertex accompanied by enlargement of CSF spaces more inferiorly, particularly in the Sylvian fissures 1. It is a prominent fe...

Spinal subependymoma

Spinal subependymomas are very rare low-grade tumors (WHO I) of the spinal cord. Like intracranial subependymomas, that are far more common, spinal subependymomas are slow-growing, discrete tumors with little if any contrast enhancement. Epidemiology Due to the small number of cases reported ...

Pineal and tectal plate protocol (MRI)

MRI protocol for the pineal and tectal plate assessment is a group of MRI sequences put together to best approach tumors involving this region. The pineal region is best imaged with MRI although CT, angiography, and ultrasound (in infants) also play a role. Please refer to the article pineal r...

Boomerang sign (disambiguation)

Boomerang sign may refer to: boomerang sign (peroneus brevis tear) boomerang sign (medial meniscal tear) boomerang sign (splenium) History and etymology Boomerang is of course a curved projectile used originally by the Australian Aborigines, one of its various uses was as a hunting weapon 1.

White grey sign

White grey sign is useful for identifying the central sulcus on MRI images. It reflects that fact that primary motor and sensory cortex has more myelin in it than other cortices. This results in a whitening of the cortex on T1-weighted imaging, especially noticeable at higher field strengths. On...

Callen MS-ADEM criteria

The Callen MS-ADEM criteria can be useful in differentiating between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) in children, as the first attack of immune-mediated demyelination is a frequent diagnostic challenge. Given the diagnostic challenge, several diagnostic c...

Gamma Knife

Gamma Knife, also known as Gamma Knife radiosurgery (GKRS), is a form of radiosurgery historically employing 201 cobalt-60 sources arranged in a hemispheric array. The latest system, the Gamma Knife Perfexion, uses 192 cobalt-60 sources 1. The emitted gamma rays are focussed on a target point wh...

Circular sulcus

The circular sulcus, or peri-insular sulcus is a deep sulcus that surrounds the lateral surface of the insular cortex and separates it from the operculum of the frontal, temporal and parietal lobes. In this sulcus, the M2 segment of the middle cerebral artery (MCA) completes a downward turn at t...

Radionuclide shuntography

Radionuclide cisternography is a nuclear medicine imaging technique that uses 99mTc-DTPA (diethyletriaminepentaacetic acid; pentetate) injected into CSF shunt reservoirs to evaluate their patency. Imaging is performed at 2-6 hours after injection of the radiopharmaceutical into the shunt reserv...

Radionuclide cisternography

Radionuclide cisternography is a nuclear medicine imaging technique that uses intrathecal 111In-DTPA (diethyletriaminepentaacetic acid; pentetate) to visualize the flow of cerebrospinal fluid (CSF). There are a few indications 1: localization of CSF leak, such as in spontaneous intracranial hy...

Arc sign (CARASIL)

The arc sign has been described in late-stage CARASIL and is seen on axial T2 weighted images. It describes high signal extending from one middle cerebellar peduncle, across the pons, to the contralateral middle cerebellar peduncle 1.

Venous circle of Trolard

The anastomotic venous circle of the base of the brain 1, also referred to as the venous circle of Trolard 2,3,5, is an inconsistently found venous homologue of the better-known arterial circle of Willis. It should not be confused with other venous structures also described by Trolard such as t...

Pyrexia

Pyrexia (or fever) is a clinical sign, indicated by an abnormally elevated core body temperature, which is defined by several medical societies as ≥38.3°C (≥≈101°F). The temperature elevation may be persistent or episodic. If the body temperature is greater than 41.5°C - a rare phenomenon - it i...

JC virus granule cell neuronopathy

JC virus granule cell neuronopathy results from the reactivation of the John Cunningham virus (JC virus), infecting granule cell neurons in the cerebellum, in patients with compromised immune systems. Epidemiology JC virus granule cell neuronopathy is considered a rare manifestation of JC viru...

Cavernous sinus syndrome

Cavernous sinus syndromes refer to constellations of clinical signs and symptoms referable to pathology within or adjacent to the cavernous sinus. Clinical presentation Patients present with multiple unilateral cranial neuropathies involving any combination of the following: ophthalmoplegia (...

Thiamine deficiency

Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi. There are two main forms: wet beriberi: high-output cardiac failure predominates Shoshin beriberi 3: severe acute wet form with high mortality d...

Deafness

Deafness (also known as hearing loss or impairment) is the partial or complete loss of the sense of hearing. It may be subdivided etiologically into conductive: impairment of the passage of sound waves from the auricle to the inner ear sensorineural: impairment localizes to the inner ear, in...

Manganism

Manganism. or hypermanganesemia, is the inherited or acquired clinical syndrome resulting from acute or chronic overexposure to the transition metal manganese, one of the essential trace elements. It primarily manifests as parkinsonism and may be clinically, radiologically and histopathologicall...

Transcranial Doppler sonography (ultrasound)

Transcranial Doppler (TCD), also known as transcranial color-coded duplex sonography (TCCS) is a sonographic study of intracranial structures and blood vessels, used most commonly to identify the hemodynamic state present in the vertebrobasilar circulation and the circle of Willis. Termin...

Giant axonal neuropathy

Giant axonal neuropathy is a rare, autosomal recessive neurodegenerative disease of both the peripheral nervous system (PNS) and the central nervous system (CNS). It is one of the inherited leukodystrophies. Epidemiology Approximately 50 affected families have been reported in the literature;...

Zinc toxicity

Zinc toxicity (also rarely known as zincalism) is rare as the body is remarkably efficient at excreting excess zinc. Typically oral zinc poisoning manifests primarily as: acute GI symptoms: vomiting, diarrhea, abdominal pain secondary copper deficiency zinc competes with copper for absorption...

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 ...

Trigeminal ganglion

The trigeminal ganglion, also known as the Gasser, Gasserian or semilunar ganglion, is the large crescent-shaped sensory ganglion of the trigeminal nerve located in the trigeminal cave (Meckel cave) surrounded by cerebrospinal fluid. The ganglion contains the cell bodies of pseudounipolar senso...

Trident appearance (disambiguation)

The trident appearance (or sign) can refer to a variety of entities: trident acetabulum trident hand trident sign (osmotic demyelination) trident sign (neurosarcoidosis) trident sign (persistent trigeminal artery) History and etymology The trident is a three-pronged lance employed for spe...

Hockey stick sign (disambiguation)

The hockey stick sign can refer to a variety of different signs and appearances: hockey stick sign (thyroid hemiagenesis) hockey stick sign (Creutzfeldt-Jakob disease) hockey stick sign (ureters)

Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency, also known as pseudo-neonatal adrenoleukodystrophy or just pseudoadrenoleukodystrophy, is a very rare autosomal recessive inborn error of metabolism due to deficiency of the enzyme Acyl-Coa oxidase (encoded by ACOX1 gene, 17q25.1) that results in the accu...

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)

Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare neurodegenerative hypomyelinating disease of infancy and childhood. Epidemiology Due to the small number of reported cases, detailed epidemiological data is unavailable. The age of onset is usually within the f...

Pandystrophies

Pandystrophies are neurological diseases that demonstrate both white and grey-matter involvement, as opposed to leukodystrophies (dominated by white matter involvement) or poliodystrophies (dominated by grey matter involvement). Most metabolic diseases with central nervous system involvement fa...

Poliodystrophies

Poliodystrophies are neurological disease dominated by grey-matter involvement as opposed to leukodystrophies (dominated by white matter involvement) or pandystrophies (both white and grey matter involved). The poliodystrophy group are defined by predominant grey matter involvement, but some de...

Dentatorubral–pallidoluysian atrophy

Dentatorubral–pallidoluysian atrophy (DRPLA) is a clinically heterogenous autosomal dominant CAG repeat expansion disorder that is particularly prevalent within the Japanese population. Epidemiology The majority of case reports are in patients of Japanese origin, where disease prevalence is 1...

Alpers syndrome

Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1. Epidemiology Alpers syndrome is incredibl...

Huntington disease-like 2

Huntington disease-like 2 (HDL2) is a rare trinucleotide repeat expansion disorder that closely resembles Huntington disease. It is considered as one of the core neuroacanthocytosis syndromes (NAS). Epidemiology HDL2 occurs at a median age of 41 years, range 12 to 66 years, and typically affe...

Artery of Bernasconi and Cassinari

The artery of Bernasconi and Cassinari, also known as medial or marginal tentorial artery (of Bernasconi–Cassinari), commonly arises from the cavernous segment of the internal carotid artery. Gross anatomy The artery of Bernasconi and Cassinari is ~2 cm long and is an important branch of the m...

Chorea-acanthocytosis

Chorea-acanthocytosis (ChAc) is an autosomal recessive, progressive neurological disorder. It is the commonest of the four core neuroacanthocytosis syndromes (NAS). Symptomatology includes movement disorder, acanthocytosis, elevated creatinine kinase, and atrophy of the basal ganglia. Epidemio...

Pseudo-TORCH syndrome

Pseudo-TORCH syndrome is a term used to denote cases that clinically resemble congenital infection (see congenital TORCH infections) but where no organisms or serological, microbiological or immunological evidence of infection can be identified 1. It is now believed that pseudo-TORCH syndrome is...

Aicardi-Goutières syndrome

Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy as a systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...

Neuroacanthocytosis syndromes

Neuroacanthocytosis syndromes (NAS), previously known collectively as Levine-Critchley syndrome, are characterized by basal ganglia degeneration, acanthocytosis, and normal serum lipoprotein. There are four core NAS: chorea-acanthocytosis (ChAc) McLeod syndrome (MLS) Huntington disease-like ...

Rhomboid fossa (disambiguation)

The rhomboid fossa can refer to two different structures: rhomboid fossa of the clavicle rhomboid fossa of the floor of the fourth ventricle

Jet hematoma

A jet or flame-shaped hemorrhage is a term sometimes used to describe an intraparenchymal hematoma adjacent to a ruptured arterial vascular malformation, such as aneurysms (most common) or dural arteriovenous fistulae or arteriovenous malformations 1,2. It usually is seen in combination with sub...

Interthalamic adhesion

The interthalamic adhesion, or massa intermedia, is a small variably present connection between the medial apposing surfaces of the two thalami that passes through the third ventricle. It is not a commissure as once thought, as it does not contain neurons; instead, it is composed of glial tissue...

Supraoptic commissure

The supraoptic commissure consists of: Gudden commissure Meynert commissure Gasner commissure

Suprapineal recess

The suprapineal recess is a small angular recess or diverticulum that forms the posterior wall of the third ventricle superior to the habenular commissure and the larger pineal recess. Some anatomists describe a single pineal recess rather than separate pineal and suprapineal recesses.

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