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.

168 results found
Article

Sheehan syndrome

Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume hemorrhage and hypovolemic shock, either during delivery or afterwards with resultant necrosis of anterior pituitary cells 4. Epidemiology Advances in ob...
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Sturge-Weber syndrome

Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterized by facial port wine stains and pial angiomas.  It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS). Epidemiology Sturge-Weber syndr...
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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...
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CEC syndrome

CEC syndrome refers to the combination of celiac disease, epilepsy and bilateral occipital calcifications. This is also known as Gobbi syndrome. Patients with cerebral calcifications and celiac disease without epilepsy are considered as having an incomplete form of CEC syndrome 1. Epidemiology ...
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Pantothenate kinase-associated neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN), historically also 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). Epidemiology Cla...
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POEMS syndrome

POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly hepatomegaly, splenomegaly or lymphadenopathy E: endocrinopathy diabete...
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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). Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after J...
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Lateral medullary syndrome

Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by an acute ischemic infarct of the lateral medulla oblongata. This is most commonly due to occlusion of the intracranial portion of the vertebral artery followed by PICA and its branches 1-3.  Epidemio...
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Superior orbital fissure syndrome

Superior orbital fissure syndrome (SOFS) (also known as Rochon–Duvigneaud syndrome) is a rare complication of craniofacial trauma with an orbital fracture that extends to the superior orbital fissure that results in injury to the cranial nerves III, IV, V (ophthalmic branch of the trigeminal ner...
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Bruns syndrome

Bruns syndrome occurs in patients with an obstructing intraventricular mass.It consists of abrupt paroxysms of: severe headache vertigo vomiting The symptoms are characteristically exacerbated with sudden movements of the head. Pathology There are two main theories as to the pathogenesis o...
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Alport syndrome

Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions. Clinical presentation hematuria sensorineural hearing loss: typically high frequency 2 ocular abnormalities anterior lenticonus: most common ...
Article

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...
Article

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS)

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative balance disorder characterized by cerebellar ataxia, sensory neuronopathy (ganglionopathy), and bilateral vestibular hypofunction. Epidemiology The epidemiology is yet to be defined, but CA...
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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 e...
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Acute spinal cord ischemia syndrome

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

Terson syndrome

  Terson syndrome refers to vitreous hemorrhage associated with subarachnoid hemorrhage, however some authors include retinal hemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid hemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-50...
Article

Wernicke encephalopathy

Wernicke encephalopathy, also referred as Wernicke-Korsakoff syndrome, is a form of thiamine (vitamin B1) deficiency, and is typically seen in alcoholics. On imaging, it is commonly seen on MRI as areas of symmetrical increased T2/FLAIR signal involving the mammillary bodies, dorsomedial thalam...
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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

Familial multiple cavernous malformation syndrome

Familial multiple cavernous malformation syndrome is 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 and ...
Article

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...
Article

Caudal regression syndrome

Caudal regression syndrome 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 vast m...
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Cauda equina syndrome

Cauda equina syndrome is considered an incomplete cord syndrome, even though it occurs below the conus, and refers to a collection of symptoms and signs that result from severe compression of the descending lumbar and sacral nerve roots. It is most commonly caused by an acutely extruded lumbar d...
Article

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...
Article

Central cord syndrome

Central cord syndrome is the most common type of incomplete spinal cord syndrome, usually the result of trauma, accounting for ~10% of all spinal cord injuries. As the name implies, this syndrome is the result of a damage to the central portion spinal cord and in the setting of trauma most commo...
Article

Ataxia telangiectasia

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

Paradoxical brain herniation

Paradoxical brain herniation, also known as sinking skin flap syndrome or syndrome of the trephined, is a rare and potentially fatal complication of decompressive craniectomy.  Pathology Atmospheric pressure exceeding intracranial pressure at the craniectomy results in displacement of the brai...
Article

Hypomelanosis of Ito

Hypomelanosis of Ito, 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 as between 1 per 8000 patients in a general pediatric hospital 3...
Article

Pituitary stalk transection syndrome

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

18q-deletion syndrome

18q-deletion 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 do their severity. Characteristic clinical features include short stature, mental retardation, hypotonia, facial and distal ske...
Article

Fahr syndrome

Fahr syndrome, also known as bilateral striatopallidodentate calcinosis, is characterized 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

Sjögren-Larsson syndrome

Sjögren-Larsson syndrome is a rare inherited autosomal recessive neurocutaneous syndrome and leukodystrophy characterized by the clinical triad of ichthyosis, intellectual disability, and spastic diplegia or tetraplegia. Epidemiology Although considered very rare, the exact prevalence is not k...
Article

Morning glory syndrome (eye)

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...
Article

Morgagni-Stewart-Morel syndrome

Morgagni-Stewart-Morel syndrome​ consists of the triad of: hyperostosis frontalis interna obesity excessive hair growth (virilism/hirsutism) and is also associated with neuropsychiatric conditions. The cause is unclear.  History and etymology It was first described in 1765 by the Italian ...
Article

Wildervanck syndrome

Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of: Klippel-Feil syndrome congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness. Duane syndrome: an ocular motility disturbance due to fibrosis of the extraocu...
Article

Locked-in syndrome

Locked-in syndrome is a condition that can occur as a result of a stroke involving the brainstem; the stroke damages the ventral brainstem, corresponding to the pyramidal bundles. Clinical presentation The infarct is pontine; the midbrain is preserved. The oculomotor nerve III is intact so the...
Article

Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at presentation of 21 years. There may be...
Article

Multiple system atrophy

Multiple system atrophy (MSA) is a sporadic neurodegenerative disease (one of the synucleinopathies) characterized by varying degrees of cerebellar ataxia, autonomic dysfunction, parkinsonism and corticospinal dysfunction.  Epidemiology Multiple systemic atrophy is a sporadic disease, with a p...
Article

Opsomyoclonus

Opsomyoclonus (OMS), also known as dancing eyes-dancing feet syndrome and opsoclonus-myoclonus syndrome, is a clinical syndrome which has a strong association with neuroblastoma. Clinical presentation The “opso-“ refers to the presence of intermittent jerky eye movements (dancing eyes) and the...
Article

SMART syndrome

SMART syndrome, an acronym for stroke-like migraine attacks after radiation therapy, is an uncommon delayed complication of cerebral radiation therapy. Clinical presentation Patients usually present years after radiation therapy (6-30 years in a case series) with seizures and subacute stroke-l...
Article

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 (...
Article

Lennox-Gastaut syndrome

Lennox-Gastaut syndrome is a form of refractory childhood-onset epilepsy and is often accompanied by developmental delay and psychological/ behavioral problems. An electroencephalogram (EEG) often shows a slow spike and wave pattern. Epidemiology It often appears between the 2nd and 6th years ...
Article

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 dr...
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.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3
Article

Cortical blindness syndrome

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

Manganism is the clinical syndrome resulting from acute or chronic overexposure to the transition metal manganese. It primarily manifests as parkinsonism and is frequently clinically, radiologically and histopathologically indistinguishable from classic idiopathic Parkinson disease 1.  Clinical...
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Adie syndrome

Adie syndrome, also known as Holmes-Adie syndrome, is a rare neurological disorder. Epidemiology Adie syndrome is a rare condition which is most commonly seen in young females in their fourth decade of life 2,3. Clinical presentation Patients most commonly present with a classic triad of: d...
Article

Gerstmann syndrome

Gerstmann syndrome, also known as angular gyrus syndrome, is a dominant hemisphere stroke syndrome affecting the left parietal lobe in the region of the angular gyrus, consisting of four components:  agraphia or dysgraphia acalculia or dyscalculia finger agnosia left-right disorientation Pu...
Article

Vernet syndrome

Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a glomus jugulare tumor, schwannoma, or metastasis 2. Clinical presentation It consists of motor paralysis of: glossopharyngeal nerve ...
Article

Medial medullary syndrome

Medial medullary syndrome, also known as Déjerine syndrome,  is secondary to  thrombotic or embolic occlusion of small perforating branches from vertebral or proximal basilar artery supplying the medial aspect of medulla oblongata1,2. Epidemiology Represents less than 1% of brainstem stroke sy...
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Neurofibromatosis type 1 (mnemonic)

Clinical diagnosis requires the presence of at least two criteria to confirm the presence of neurofibromatosis type 1 (NF1) 1. These diagnostic criteria can be remembered with the mnemonic: CAFE SPOT Mnemonic C: café-au-lait spots (greater than six seen during one year) A: axillary or ingui...
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Niacin deficiency

Niacin (vitamin B3) deficiency, also known as pellagra, is a multisystem disease which involves 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 was practically era...
Article

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;...
Article

Myoclonic epilepsy with red ragged fibers (MERRF)

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

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy with calcifications and cysts, also known as Labrune syndrome, is a rare condition that consists of a triad of leukoencephalopathy, cerebral calcifications and edematous cysts. Epidemiology Leukoencephalopathy with calcifications and cysts is an extremely rare condition, wi...
Article

Aicardi-Goutières syndrome

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

Large vestibular aqueduct syndrome

Large vestibular aqueduct syndrome, also known as large endolymphatic sac anomaly, refers to the presence of congenital sensorineural hearing loss with an enlarged vestibular aqueduct due to enlargement of the endolymphatic duct. It is thought to be one of the most common congenital causes of se...
Article

Anterior choroidal artery syndrome

Anterior choroidal artery (AchA) syndrome is a rare entity characterized 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,...
Article

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...
Article

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...
Article

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 ...
Article

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...
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

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

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. Epidemiology The prevalence of CMT in one Norwegian study was 82.3 cases per 100,000 people 4.  Clini...
Article

Subclavian steal syndrome

Subclavian steal syndrome (SSS) and subclavian steal phenomenon both result from occlusion or severe stenosis of the proximal subclavian artery resulting in retrograde flow in the ipsilateral vertebral artery. Terminology Subclavian steal phenomenon refers to steno-occlusive disease of the pro...
Article

Subependymal hamartomas

Subependymal hamartomas are seen in patients with tuberous sclerosis. They are located along the ventricles and are mostly asymptomatic. As with other hamartomas, they grow at the same rate as the surrounding tissues. On imaging, they appear as small intraventricular mass, smaller than 1 cm, an...
Article

Fowler syndrome

Fowler syndrome, also known as proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH), is a rare inherited condition. Terminology Not to be confused with Fowler syndrome of urinary retention, a condition caused by primary failure of urethral sphincter relaxation resulting ...
Article

Muscle-eye-brain disease

Muscle-eye-brain disease is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal h...
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 tumor syndromes. ...
Article

Foster Kennedy syndrome

Foster Kennedy syndrome describes the clinical syndrome of unilateral optic atrophy with contralateral papilledema caused by an ipsilateral compressive mass lesion. Clinical presentation The syndrome consists of two cardinal features 1,2: ipsilateral optic nerve atrophy presenting with centra...
Article

Ramsay Hunt syndrome

Ramsay Hunt syndrome (RMS), also known as herpes zoster oticus, is shingles of the facial nerve. It is due to reactivation of the varicella zoster virus in the geniculate ganglion. Clinical presentation Ramsay Hunt syndrome classically presents with a triad of 3,4: otic pain facial nerve pal...
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 organization (WHO), the approximate worldwide inci...
Article

Schimmelpenning syndrome

Schimmelpenning syndrome is a rare and variable congenital multisystem condition characterized by extensive linear sebaceous nevi and multisystem neuroectodermal abnormalities. It is an epidermal nevus syndrome (ENS). Clinical presentation Classical triad including sebaceous nevi, seizures, an...
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...
Article

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

Slit ventricle syndrome

Slit ventricle syndrome refers to cerebrospinal fluid shunt-related symptoms in the setting of small ventricles demonstrated on radiologic studies. Clinical presentation The presence of characteristic symptoms is required to diagnose slit-ventricle syndrome and must be distinguished from slit-...
Article

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...
Article

Nijmegen breakage syndrome

Nijmegen breakage syndrome, also known as Seemanova syndrome or Berlin breakage syndrome, is a rare autosomal recessive syndrome of chromosomal instability.  Clinical presentation microcephaly present at birth and progressive with age dysmorphic facial features mild growth retardation mild...
Article

Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized 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

Occipital horn syndrome

Occipital horn syndrome is a rare X-linked disorder of copper metabolism resulting in connective tissue abnormalities. Menkes disease is the severe form of this disease, with patients rarely surviving past 3 years of age. Occipital horn syndrome (also known as X-linked cutis laxa or Ehlers Danl...
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-dependent mitochondrial enzymes.  Epidemiology Menk...
Article

PHACE syndrome

PHACE syndrome, also known as cutaneous hemangioma–vascular complex syndrome or Pascual-Castroviejo type II syndrome, is a phakomatosis that comprises of: P: posterior fossa malformations (e.g. Dandy-Walker malformation) H: hemangiomas A: arterial anomalies C: coarctation of the aorta and ca...
Article

Raymond syndrome

Raymond syndrome is a posterior circulatory stroke syndrome due to a lesion in the ventral medial mid-pons. It is an extremely rare condition, with only a handful of cases described in the literature. Clinical presentation Clinically, 2 subtypes have been reported 1: classic type abducens ne...
Article

Susac syndrome

Susac syndrome (SS), also known as SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-age women that is clinically characterized by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing l...
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

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

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 neurol...
Article

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...
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 characterized by gradual impairment of speech and lan...
Article

Brown-Séquard syndrome

Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...
Article

Rotational vertebral artery occlusion syndrome

Rotational vertebral artery occlusion syndrome, also known as bow hunter's syndrome, is a rare form of vertebrobasilar insufficiency secondary to dynamic compression of the usually-dominant vertebral artery.  Pathology It has many predisposing etiologies, but is most often due to large osteoph...
Article

Alpha thalassemia/mental retardation syndrome X-linked (ATRX)

Alpha-thalassemia/mental retardation syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX wild-type) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion and p53 expression 1,2.  ATRX and ID...
Article

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.  Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaic...

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