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.

119 results found
Article

18q syndrome

18q syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as does their severity. Characteristic features include short stature, mental retardation and hypotonia, facial and distal skeletal abnorma...
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Acute spinal cord ischaemia syndrome

Acute spinal cord ischaemia syndrome (ASCIS) is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor.  Epidemiology Acute spinal cord ischaemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demographic o...
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Adie syndrome

Adie syndrome was named after the British physician and neurologist William John Adie (1886 - 1935).  It consists of a classic triad of: diaphoreseis absent deep tendon reflexes, e.g. ankle jerk an Adie pupil: tonically dilated and responds poorly or not at all to light It is thought to res...
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Aicardi syndrome

Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47-XXY cases). Clinical features The typical presentation in infancy is with a triad of: infantile spasms: salaa...
Article

Anterior choroidal artery syndrome

Anterior choroidal artery syndrome is a rare entity characterised by the triad of hemiplegia, hemianaesthesia and contralateral hemianopia as a result of cerebral infarction in the anterior choroidal artery territory. The syndrome may also be associated with neuropsychological disorders, includ...
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Anterior cord syndrome

Anterior cord syndrome (also known as Beck's syndrome or anterior spinal artery syndrome) is a clinical subset of spinal cord injury syndromes, due to ischaemia/infarction of the anterior two-thirds of the spinal cord, typically sparing the posterior third. Clinical presentation Patient presen...
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Antiphospholipid syndrome

Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischaemic events occurring in patients who have circulating antiphospholipid antibodies. Pathology Patients have circulating antiphospholipid antibodies cross-re...
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Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)

Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies. Radiographic features markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound. inter...
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Ataxia telangiectasia

Ataxia telangiectasia is a rare multisystem disorder which carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterised by multiple telangiectasias, cerebellar ataxia, pulmonary infections and immunodeficiency.  On brain imaging, it usually demonstrate...
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Babinski-Nageotte syndrome

Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome) 1,2. It is considered to be a spreading of the “Wallenbergian” lateral lesion, often due to occlusion...
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Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome. There are no formal diagnostic criteria for this disease, but characterist...
Article

Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition. Clinical presentation The clinical spectrum includes: retinal anomalies: similar to that of retinitis pigmentosa mental retardation renal str...
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Benedikt syndrome

Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus resulting in an ipsilateral CN III palsy and crossed hemiataxia and choreoathetosis 1-4. Using imaging alone, it is difficult to distinguish ...
Article

Benign paroxysmal positional vertigo

Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The aetiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posteri...
Article

Biotinidase deficiency

Biotinidase deficiency is a rare autosomal recessive condition in which the body is unable to break down the conjugated form of the vitamin B7 (biotin), resulting in low levels of available biotin. Epidemiology Profound deficiency (<10% of normal level) is estimated at ~1:100,000 of newborns. ...
Article

Brown-Séquard syndrome

Brown-Séquard syndrome is the result of a hemicord lesion (i.e. damage or impairment to the left or right side of the spinal cord). Clinical presentation Due to some fibres crossing within the cord whilst others cross in the brainstem, the neurology is bilateral, namely 1:  ipsilateral ascen...
Article

Cauda equina syndrome

Cauda equina syndrome refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is considered a diagnostic and surgical emergency.  Epidemiology Cauda equina syndrome is rare with prevalence estimated at approximately 1...
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Caudal regression syndrome

Caudal regression syndrome (CRS) represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The ...
Article

CEC syndrome

CEC syndrome refers to the combination of coeliac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and coeliac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1. Epidemiolog...
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Central cord syndrome

Central cord syndrome is the most common type of incomplete spinal cord injury, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of a contusion of the central portion of the cervical spinal cord. Epidemiology Most often central cord syndrome occ...
Article

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease, also known as hereditary motor and sensory neuropathy (HMSN), is the most commonly inherited neuropathy of lower motor (to a lesser degree sensory) neurons. Clinical presentation Signs and symptoms usually become first evident in childhood. Typically this sta...
Article

Chinese paralytic syndrome

Chinese paralytic syndrome also known as acute motor axonal neuropathy (AMAN) is characterised progressive symmetric flaccid paralysis with areflexia. It is a pure motor axonopathy and a variant of Guillain-Barré syndrome
Article

Claude syndrome

Claude syndrome is one of the brainstem stroke syndromes in which there is infarction of the dorsomedial aspect of the midbrain secondary to occlusion of the small perforating branches of the posterior cerebral artery supplying this area 1-4. The infarction involves the medial aspect of red nucl...
Article

Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome imaging studies hav...
Article

Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.  Epidemiology It occurs more frequently in females (with a M:F of ~4:1). Pathology Genetics It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined. Cli...
Article

Conus medullaris syndrome

Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome. Pathology The conus medullari...
Article

Cortical blindness syndrome

Cortical blindness is a condition resulting from lesions in the primary visual cortex (V1) characterised by visual impairment but with an intact anterior visual pathway (normal pupillary reflexes and fundal appearance). Clinical features The degree of visual impairment is related to the extent...
Article

Dandy-Walker variant

Dandy-Walker variant (DWv) is a less severe posterior fossa anomaly than the classic Dandy-Walker malformation (DWM) and is considered being on the lesser end of the disease spectrum in the Dandy-Walker continuum. Terminology This term was created to include those malformations that do not mee...
Article

Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed. Clinical presentation Injuries involving the teg...
Article

Down syndrome

Down syndrome (or trisomy 21) is the most common trisomy and also the commonest chromosomal disorder. It is a major cause of intellectual disability, and also has numerous multi-system manifestations. Epidemiology According to the world health organisation (WHO), the approximate worldwide inci...
Article

Dyke-Davidoff-Masson syndrome

Dyke-Davidoff-Masson syndrome (DDMS) was initially described as changes in the skull seen on skull x-ray in patients with cerebral hemiatrophy but is now applied more broadly to cross-sectional imaging also. It is characterised by: thickening of the skull vault (compensatory) enlargement of th...
Article

Facial colliculus syndrome

Facial colliculus syndrome refers to a constellation of neurological signs due to a lesion at the facial colliculus, involving: abducens nerve (CN VI) nucleus facial nerve (CN VII) fibres at the genu medial longitudinal fasciculus Clinical presentation lower motor neuron facial nerve palsy ...
Article

Fahr syndrome

Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterised by abnormal vascular calcium deposition, particularly in the basal ganglia, cerebellar dentate nuclei, and white matter, with subsequent atrophy. It can be either primary (usually autosomal dominant) or se...
Article

Familial multiple cavernous malformation syndrome

Familial multiple cavernous malformation syndrome(s) are uncommon, accounting for only a minority of cavernous malformations. Epidemiology It has been more frequently reported in patients of Hispanic descent 1. Clinical presentation The presentation is most commonly with seizures (38-55%) 1 ...
Article

Foster Kennedy syndrome

Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilloedema caused by an ipsilateral compressive mass lesion. Clinical presentation The syndrome consists of two cardinal features: ipsilateral optic nerve atrophy presenting with central s...
Article

Gerstmann-Straussler-Scheinker disease

Gerstmann-Straussler-Scheinker disease is a very rare type of human transmissible spongiform encephalopathy. It manifests with dementia and/or ataxia and is due to a mutation in the prion protein (PRNP) gene, which is inherited in an autosomal dominant pattern. 
Article

Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.  History and etymology It is named after Manuel ...
Article

Gradenigo syndrome

Gradenigo syndrome consists of the triad of: petrous apicitis abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary divisions of the trigeminal nerve, due to extensi...
Article

Granulomatosis with polyangiitis (CNS manifestations)

CNS manifestations of granulomatosis with polyangiitis (GPA) (previously known as Wegener's granulomatosis) are rare. Granulomatosis with polyangiitis (Wegener granulomatosis), is a multi-system systemic necrotizing non-caseating granulomatous vasculitis affecting small to medium-sized arteries,...
Article

Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is defined as a heterogeneous group of autoimmune polyradiculopathies, involving sensory, motor and autonomic nerves. It is the most common cause of rapidly progressive flaccid paralysis. It is believed to be one of a number of related conditions, sharing a similar ...
Article

Heerfordt syndrome

Heerfordt(-Waldenström) syndrome or uveoparotid fever is a variant of sarcoidosis, comprising of: fever parotid enlargement facial palsy ocular involvement (anterior uveitis) Epidemiology The exact prevalence is unknown, as only isolated case reports exist. Neurologic involvement may occur...
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

Hemimedullary syndrome

Hemimedullary syndrome, also known as Reinhold syndrome, occurs as a result of the occlusion of the ipsilateral vertebral artery proximal to the posterior inferior cerebellar artery and its anterior spinal artery branches 1-3. This situation causes lateral medullary infarct and medial medullary ...
Article

Hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterised by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevale...
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Horizontal gaze palsy with progressive scoliosis

HGPPS is a rare autosomal recessive AR congenital anomaly caused by mutation of ROBO3 gene on chromosome 11. Clinical presentation Abnormal horizontal gaze while normal vertical gaze and kyphoscoliosis. Horizontal gaze requires the action of ipsilateral abducent nerve and contralateral oculomo...
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Hyperperfusion syndrome after carotid endarterectomy

Hyperperfusion syndrome after carotid endarterectomy (CEA) or carotid artery stenting (CAS) is a rare complication.  Epidemiology Hyperperfusion occurs in ~7.5% (range 1-14%) of patients but only a minority (~1.5%) of patients are symptomatic 1,2, with incidence being reported slightly more af...
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Hypomelanosis of Ito

Hypomelanosis of Ito (HI), also known as incontinentia pigmentiachromians, is the third most frequent phakomatosis, involving a wide spectrum of defects in multiple organ systems. Epidemiology The prevalence is unknown, being reported since 1 per 8000 patients in a general pediatric hospital 3...
Article

Immune reconstitution inflammatory syndrome

Immune reconstitution inflammatory syndrome (IRIS) is paradoxical deterioration of a pre-existing illness following abrupt improvement in an individual's immune function. It is classically seen in HIV/AIDS patients following initiation of highly active anti-retroviral therapy (HAART). Increasing...
Article

Incontinentia pigmenti

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare condition that can affect many body systems, specially 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 pre...
Article

Inferior medial pontine syndrome

Inferior medial pontine syndrome, also known as Foville syndrome, is one of the brainstem stroke syndromes occurring when there is infarction of the medial inferior aspect of the pons due to occlusion of the paramedian branches of the basilar artery 1-3. This infarction involves the following 1-...
Article

Internuclear ophthalmoplegia

Internuclear ophthalmoplegia (INO) describes a clinical syndrome of impaired adduction in one eye with dissociated horizontal nystagmus of the other abducting eye, due to a lesion in the medial longitudinal fasciculus (MLF) ipsilateral to the eye unable to adduct. It is a common finding in multi...
Article

Jaffe-Campanacci syndrome

Jaffe-Campanacci syndrome is characterised by: multiple non-ossifying fibromas of the long bones and jaw café au lait spots intellectual disability kyphoscoliosis hypogonadism or cryptorchidism ocular malformations cardiovascular malformations giant cell granuloma of the jaw History and...
Article

Labrune syndrome

Labrune syndrome (LS) is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and cysts. Epidemiology LS is an extremely rare condition, with no more than 10 cases reported in literature 2. The onset occurs from early infancy to adolescence; few cases have...
Article

Lacunar stroke syndrome

Lacunar stroke syndrome (LACS) is a description of the clinical syndrome that results from a lacunar infarct.  Each of the five classical lacunar syndromes has a relatively distinct symptom complex. Symptoms may occur suddenly, progressively, or in a fluctuating manner (e.g. the capsular warnin...
Article

Large vestibular aqueduct syndrome

Large vestibular aqueduct syndrome (LVAS) refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct. It is thought to be one of the most common congenital causes of sensorineural hearing loss (SNHL).  Clinical presentation SNHL starts in childhood and...
Article

Lateral medullary syndrome

Lateral medullary syndrome, (or Wallenberg syndrome) is an acute ischemic infarct due to occlusion of the vessels supplying the lateral medulla oblongata; most commonly occlusion of intracranial portion of the vertebral artery followed by PICA and its branches 1-3. This syndrome is characterised...
Article

Lateral meningocele syndrome

The lateral meningocele syndrome is an extremely rare hereditary connective tissue disorder characterized by multiple lateral lumbar meningoceles, distinctive facial features, joint hypermobility, hypotonia, skeletal abnormalities, congenital cardiovascular malformations, urogenital anomalies an...
Article

Lateral pontine syndrome

Lateral pontine syndrome, also known as Marie-Foix syndrome or Marie-Foix-Alajouanine syndrome, refers to one of the brainstem stroke syndromes which occurs due to occlusion of perforating branches of the basilar and anterior inferior cerebellar (AICA) arteries 1,2. This results in infarction of...
Article

Marchiafava-Bignami disease

Marchiafava-Bignami disease (MBD) is a rare CNS disorder usually seen in the context of alcoholism and malnutrition. The condition classically involves the corpus callosum with necrosis and demyelination.  Epidemiology MBD is in most instances seen in chronic alcoholics, and as such the epidem...
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Medial medullary syndrome

Medial medullary syndrome, also known as Dejerine syndrome, represents less than 1% of brainstem stroke syndromes 1,2. Thrombotic or embolic occlusion of small perforating branches from vertebral or proximal basilar artery supplying the medial aspect of medulla oblongata cause this rare syndrome...
Article

Megalencephaly-capillary malformation syndrome

Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterised by early brain overgrowth and body morphogenesis an...
Article

Meningothelial hyperplasia

Meningothelial hyperplasia is a poorly defined and likely reactive process characterised by a non-invasive, multicentric proliferation of meningothelial arachnoid cap cells. It is one of the causes of pachymeningeal dural thickening. It is not thought to a neoplastic process or even a precursor ...
Article

Menkes disease

Menkes disease, also known as trichopoliodystrophy or Kinky hair kinky vessel syndrome, is an X-linked recessive disorder that results in a derangement in copper handling. It results in low copper levels and subsequently, deficiency in copper dependant mitochondrial enzymes.  Epidemiology Menk...
Article

MERRF

MERRF (myoclonic epilepsy with red ragged fibres) is a rare, multisystem mitochondrial disorder.  Clinical presentation Patients usually present in late adolescence or early adulthood with 1,2,3 myoclonus epilepsy cerebellar ataxia intellectual disability vision and/or hearing loss cardi...
Article

Metronidazole central nervous system toxicity

Metronidazole, which is used to treat a wide variety of bacterial and protozoal infections can, in exceedingly rare cases, lead to central nervous system toxicity. Epidemiology In a review of the case literature 1, affected patients range widely in age, with the peak incidence occurring in the...
Article

Möbius syndrome

Möbius syndrome, also known as congenital facial diplegia syndrome, is a rare congenital condition characterised by the absence or underdevelopment of the abducens nerve (CN VI) and facial nerve (CN VII) nuclei. Epidemiology Möbius syndrome is rare with an estimated incidence of ~1 case per 10...
Article

Morgagni syndrome

Morgagni syndrome consists of the triad of: hyperostosis frontalis interna obesity virilism and hirsutism History and etymology It was first described in 1765 by the Italian anatomist and pathologist Giovanni Battista Morgagni (1682-1771)
Article

Multiple endocrine neoplasia type I

Multiple endocrine neoplasia type I (MEN1) is also known as Wermer syndrome. Clinical presentation Primary hyperparathyroidism is one of the commonest presentations. Pathology The abnormality is related to a tumour suppressor gene located in chromosome 11q13. MEN type I is an autosomal domin...
Article

Neck tongue syndrome

Neck tongue syndrome (NTS) is rare and comprises altered sensation in one side of the tongue aggravated by neck movement, with ipsilateral neck pain 1.  Epidemiology NTS is seen in a wide range of ages but is more commonly reported in older children and young adults 1-3.  Clinical presentatio...
Article

Neurocutaneous melanosis

Neurocutaneous melanosis or neurocutaneous melanomatosis, is a rare sporadic phakomatosis characterised by multiple congenital cutaneous nevi and meningeal melanocytosis / meningeal melanomatosis.  Epidemiology Neurocutaneous melanosis tends to be diagnosed in the first few years of life with ...
Article

Neuroferritinopathy

Neuroferritinopathy, also known as neurodegeneration with brain iron accumulation type 2 (NBIA type 2), is a disorder of iron metabolism caused by a mutation in the ferritin light chain 1 gene (FTL1) on chromosome 19. Epidemiology Neuroferritinopathy is a rare disorder first described in 2001 ...
Article

Neurofibromatosis type 1

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a multisystem neurocutaneous disorder, the most common phakomatosis, and a RASopathy. Additionally, it is also one of the most common inherited CNS disorders, autosomal dominant disorders and inherited tumour syndromes....
Article

Neurofibromatosis type 1 (cutaneous manifestations)

Cutaneous manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are the heralding features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. Nowadays genetic testing permits the laboratory diagnosis of NF1 in as many as 95%, although ...
Article

Neurofibromatosis type 1 (thoracic manifestations)

Thoracic manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. For other thoracic manifestations as focal thoracic scoliosis, enlarged...
Article

Niacin deficiency

Niacin (vitamin B3) deficiency, also known as Pellagra, is a multisystemic disease with manifestations from the skin, gastrointestinal tract and central nervous system.  Epidemiology It use to be widespread until the early twenty century, but after fortification of flour with niacin it is prac...
Article

Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability.  Clinical and genetic features The cause is  considered a founder mutation in the NBS1 gene (c.657_661del5) on chromosome 8q21. It is most common in West Slavic populations. The role of NBS1 is ...
Article

Nothnagel syndrome

Nothnagel syndrome is a rare midbrain stroke syndrome that involves the tectum of the midbrain, including the quadrigeminal plate 1-4. Although it can be caused by stroke, especially haemorrhages rather than infarctions, it is more commonly seen due to neoplasm 1-4. Classically, the syndrome inv...
Article

Ophelia syndrome

Ophelia syndrome is the association of Hodgkin lymphoma with an autoimmune limbic encephalitis, as a result of anti-metabotropic glutamate receptor 5 antibodies  (mGluR5) 1. 
Article

Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN), previously known as Hallervorden-Spatz syndrome, is an autosomal recessive disorder causing involuntary spasticity and progressive dementia. It is a subset of neurodegeneration with brain iron accumulation (NBIA). Clinical presentation D...
Article

Paradoxical brain herniation

Paradoxical brain herniation, also known as sinking skin flap syndrome (SSFS), is a rare and potentially fatal entity complicating decompressive craniectomy.  Pathology Atmospheric pressure exceeding intracranial pressure at the craniectomy results in displacement of the brain across various i...
Article

Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...
Article

Parinaud syndrome

Parinaud syndrome, also known as the dorsal midbrain syndrome, is a supranuclear vertical gaze disturbance caused by compression of the tectal plate. It is characterised by a classic triad of findings: upward gaze palsy, often manifesting as diplopia pupillary light-near dissociation (pupils ...
Article

Parkinson-plus syndrome

Parkinson-plus syndrome refers to a loose group of neurodegenerative disorders that are characterised by features of Parkinson disease but with other neurological symptoms/signs. They have a poor response to levodopa, and mostly have fairly characteristic neuroimaging features.  Conditions incl...
Article

Parry-Romberg syndrome

Parry-Romberg syndrome (PRS), also known as progressive facial hemiatrophy (PFH), is a rare progressive craniofacial disorder (phakomatosis). It is classically characterised by a slow progressive degeneration (atrophy) of the soft tissues of half of the face (hemifacial atrophy). This involves ...
Article

Pituitary stalk transection syndrome

Pituitary stalk transection syndrome, also known as pituitary stalk interruption syndrome, is a syndrome characterised by absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. Epidemiology Patients with pituitary stalk transectio...
Article

POEMS syndrome

POEMS syndrome is an acronym for a rare multisystem disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly E: endocrinopathy M: monoclonal gammopathy S: skin changes (including hyperpigmentation and sk...
Article

Poland-Möbius syndrome

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  Etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3
Article

Posterior choroidal artery stroke

Posterior choroidal artery occlusion uncommonly presents as an isolated stroke syndrome.  It usually coexists with posterior cerebral artery and often superior cerebellar artery involvement.  When seen in isolation damage is characteristically limited to the: lateral geniculate body pulvinar ...
Article

Posterior cord syndrome

Posterior cord syndrome (also known as posterior spinal artery syndrome) is a rare syndrome associated with spinal cord injury. It is caused due to a lesion in the posterior column of spinal cord or occlusion of the posterior spinal artery. The syndrome is clinically characterized by isolated l...
Article

Posterior reversible encephalopathy syndrome

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state that occurs secondary to the inability of the posterior circulation to autoregulate in response to acute changes in blood pressure. Hyperperfusion with resultant disruption of the blood brain barrier results in vasogenic o...
Article

Primary progressive aphasia

Primary progressive aphasia was first described in 1982 and is the umbrella term for the language-variant frontotemporal dementias associated with frontotemporal lobar degeneration (FTLD) 3. Clinical presentation It is an insidious disorder characterised by gradual impairment of speech and lan...
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer. It is suspected to be a genetic condition, but a particular ...
Article

Radiologically isolated syndrome

Radiologically isolated syndrome (RIS) is defined by MRI findings suggestive of multiple sclerosis (MS) in asymptomatic ("clinically silent") patients. Radiological progression usually occurs in approximately 66% of patients with RIS, while ~ 33% per 5 year period will subsequently develop neuro...

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