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.

406 results found
Article

Eosinophilic granulomatosis with polyangiitis

Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as the Churg-Strauss syndrome (CSS), is a small to medium vessel necrotising pulmonary vasculitis. It is also classified under the spectrum of eosinophilic lung disease and as a type of pulmonary angiitis and granulomatosis. ...
Article

Hyper IgE syndrome

Hyperimmunoglobulin E (hyper IgE) syndrome (HIES), also known as Job syndrome, consists of heterogeneous group of complex hereditary combined B- and T-cell immune deficiency diseases characterised by recurrent Staph aureus chest infections, characteristic coarse facial appearance and dental prob...
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

Nutcracker syndrome

Nutcracker syndrome is a vascular compression disorder and refers to the compression of the left renal vein between the superior mesenteric artery (SMA) and aorta. This can lead to renal venous hypertension, resulting in rupture of thin-walled veins into the collecting system with resultant haem...
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.  It has many predisposing aetiologies, but is most often due to large osteophytes, atla...
Article

Robinow syndrome

Robinow syndrome is a rare heterogenous genetic disorder with at least two distinct forms. Clinical spectrum The syndrome can affects several systems which include: mesomelic limb shortening: mesomelia hemivertebrae characteristic facies anomalies fetal facies hypertelorism 3 frontal bos...
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

Klippel-Feil syndrome

Klippel-Feil syndrome (KFS) is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis. Epidemiology There is a recognised female predilection 1. KFS has an incidence of 1:40,000-42,000 2. Clin...
Article

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...
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

Phlegmasia cerulea dolens

Phlegmasia cerulea dolens (Greek: "inflamed blue oedema") is an uncommon complication of deep venous thrombosis, which results from extensive thrombotic occlusion of the major and collateral veins of an extremity (usually the legs). Clinical presentation It is characterised by severe pain, swe...
Article

Van der Woude syndrome

van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae / pits with cleft lip and / or palate. It is one of the most common clefting syndromes in humans 1.  VWS individuals have a high prevalence of hypodontia. Pathology Genetics It carries anautoso...
Article

Osteopathia striata with cranial sclerosis

Osteopathia striata with cranial sclerosis (OS-CS) is a clinically separate entity from osteopathia striata (Voorhoeve disease). Bony changes on their own are typically incidental and autosomal dominant, where OS-CS is a multi system, X-linked dominant disorder. Epidemiology OS-CS is extremely...
Article

Autonomic dysreflexia

Autonomic dysreflexia (AD) is a life-threatening condition prevalent amongst patients with high spinal cord injury (SCI) and may occur any time after injury. It is a syndrome characterized by an exaggerated reflex increase in blood pressure, usually accompanied by bradycardia in response to a st...
Article

Mazabraud syndrome

Mazabraud syndrome is a rare syndrome consisting of: fibrous dysplasia: usually polyostotic 2 multiple soft tissue myxomas (intramuscular myxomas): typically in large muscle groups Epidemiology It is most frequently seen in women (~70%) and usually present in middle age (mean age 46; range 1...
Article

Sjögren syndrome

Sjögren syndrome is an autoimmune condition of exocrine glands that produce tears and saliva. Epidemiology Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognised female predilection with F:M ratio of  ≈ 9:1. Patients typically present a...
Article

All trans retinoic acid syndrome

All trans retinoic acid (ATRA) syndrome (more recently known as differentiation syndrome (DS)8) is a condition that can occur with patients with acute promyelocytic leukemia who are on therapeutic all-trans-retinoic acid (ATRA). All-trans-retinoic acid (ATRA) is a normal constituent of plasma. ...
Article

Budd-Chiari syndrome

Budd-Chiari syndrome refers to the clinical picture that occurs when there is partial or complete hepatic venous outflow obstruction. It is characterised on imaging by ascites, caudate hypertrophy, peripheral atrophy, and prominent collateral veins.  Epidemiology Budd-Chiari syndrome is rare. ...
Article

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses. Epidemiology The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
Article

Kartagener syndrome

Kartagener syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterised by an abnormal ciliary structure or function, leading to impaired mucociliary clearance.  Epidemiology The prevalence of primary ciliary dyskinesia is approximately 1 in 12,000-60,000 ...
Article

Terson syndrome

Terson syndrome refers to vitreous haemorrhage associated with subarachnoid haemorrhage, however some authors include retinal haemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid haemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-5...
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

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

Medial patellar plica syndrome

Medial patellar plica syndrome is one of the conditions that can be associated with the presence of synovial plicae of the knee (in this instance a medial plica). It can be a common source of anterior knee pain. Epidemiology While it can affect those of any age, it typically involves the young...
Article

Multiple endocrine neoplasia type IIb

Multiple endocrine neoplasia (MEN) type IIb, also known as MEN type 3 (MEN3) 3 or mucosal neuroma syndrome 2, accounts for only 5% cases of MEN2 and is characterised by: pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal medullary thyroid cancer: 100% of patient...
Article

Multiple endocrine neoplasia type IIa

Multiple endocrine neoplasia (MEN) type IIa, also known as Sipple syndrome, accounts for most cases of MEN2 and is characterised by: pheochromocytomas: in 50% of patients, often bilateral, and can be extra-adrenal medullary thyroid cancer: 100% of patients, aggressive, and may secrete calciton...
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

Caffey disease

Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity ...
Article

Swyer-James syndrome

Swyer-James syndrome (SJS), also known as Swyer-James-MacLeod syndrome and Bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis.  Epidemiology The condition typically follows a viral respiratory infecti...
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...
Article

Zinner syndrome

Zinner syndrome is a triad of Wolffian duct anomalies that include unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed at 3rd or 4th decade of life and often present with perineal pain, recurren...
Article

Asplenia syndrome

Asplenia syndrome (also known as right isomerism or Ivemark syndrome) is a type of heterotaxy syndrome. Epidemiology There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates.4 Clinical manifestation In contrast to polysplenia syndrome, most patients die bef...
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

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

Pickwickian syndrome

Pickwickian syndrome, or obesity hypoventilation syndrome (OHS), comprises the triad of obesity (BMI ≥30 kg/m2), daytime hypoventilation (awake hypercapnia and hypoxemia), and sleep-disordered breathing in the absence of alternative explanations (e.g. severe parenchymal lung disease, mechanical ...
Article

Megacystis microcolon intestinal hypoperistalsis syndrome

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (also known as the Berdon syndrome) is a rare congenital disorder characterised by a dilated non-obstructive urinary bladder and hypoperistalsis of the gastrointestinal tract. Epidemiology There is recognised strong female predi...
Article

Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...
Article

Carpal tunnel syndrome

Carpal tunnel syndrome (CTS) results from compression of the median nerve within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndrome.  Epidem...
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...
Article

Wernicke-Korsakoff syndrome

Wernicke encephalopathy, also referred as Wernicke-Korsakoff syndrome, is due to 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 mamillary bodies, dorsomedial thalami, t...
Article

Levator ani syndrome

Levator ani syndrome (LAS) is a musculoskeletal pain syndrome involving the pelvic floor, thought to be caused by spasm or scarring of the levator ani muscles. Clinical presentation LAS is characterized by recurrent pain, pressure or discomfort in the region of the rectum, sacrum, and coccyx. ...
Article

Rhupus syndrome

Rhupus syndrome is a term traditionally used to describe patients uncommonly having the coexistence of systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA)
Article

1p36 deletion syndrome

1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterised most commonly by a deletion in the distal segment of the short arm of chromosome one 1. Epidemiology The 1p36 deletion syndrome is present in approximately 1 in 5000 live births. It is the most common terminal...
Article

Nephrotic syndrome

Nephrotic syndrome (NS) results from loss of plasma proteins in the urine and characterised by hypoalbuminemia, hyperalbuminuria, hyperlipidemia, and oedema. It may be caused by primary (idiopathic) renal disease or by a variety of secondary causes. Clinical presentation Patients present with ...
Article

Chilaiditi syndrome

Chilaiditi syndrome is the anterior interposition of the colon to the liver reaching the under-surface of the right hemidiaphragm with associated upper abdominal pain; it is one of the causes of pseudopneumoperitoneum. Colonic gas in this position may be misinterpreted as true pneumoperitoneum ...
Article

Currarino triad

The Currarino triad (not to be confused with Currarino-Silverman syndrome, the eponymous name for pectus carinatum type 2 deformity) or ASP triad, is characterised by: anorectal malformation or congenital anorectal stenosis sacrococcygeal osseous defect presacral mass e.g anterior sacral men...
Article

Mucopolysaccharidoses

Mucopolysaccharidoses (MPS) constitute a group of hereditary disorders, one of a number of lysosomal storage disorders, having in common an excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes (lysosomal hydrolases) responsible for degradation of mucopolysa...
Article

Carotidynia

Carotidynia, also known as Fay syndrome, is a rare syndrome characterised by neck pain in the region of the carotid bifurcation. There is confusion in the literature as to what this term actually refers to, with some authors suggesting that the term should be reserved for a pain syndrome with n...
Article

HIV-associated nephropathy

HIV-associated nephropathy (HIVAN) is commonly seen in patients with HIV/AIDS and leads to end stage renal disease (ESRD). The diagnosis is not imaging-based and must be confirmed by renal biopsy. Epidemiology HIVAN is seen in patients at advanced stages of HIV and AIDS, but it can also be see...
Article

Androgen insensitivity syndrome

Androgen insensitivity syndrome (AIS), also known as the testicular feminisation syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.  Epidemiology The incidence may vary depending on whether it i...
Article

Low phospholipid-associated cholelithiasis syndrome

Low phospholipid-associated cholelithiasis (LPAC) syndrome is one of the syndromes associated with ABCB4/MDR3 mutation. Characteristics of this syndrome include 1,2: intrahepatic microlithiasis/sludge symptomatic cholesterol stones with early onset (<40 years) recurrent symptoms post cholecys...
Article

Lemmel syndrome

Lemmel syndrome is defined as an obstructive jaundice caused by a periampullary duodenal diverticulum (of the second part of the duodenum) compressing the intrapancreatic part of the common bile duct with resultant upstream dilatation of the extra- and intrahepatic bile ducts. Clinical presenta...
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

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

Thoracic outlet syndrome

Thoracic outlet syndrome (TOS) refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture.  Clinical presentation Clinical presentation will depend on the structure compre...
Article

Blue rubber bleb naevus syndrome

Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterised by multifocal venous anomalies. Patients often have multiple soft blue skin lesions associated with multiple bowel venous malformations, which could lead to lower gastrointestinal bleeding.  Path...
Article

≤11 ribs (differential)

≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including: Down syndrome campomelic dysplasia kyphomelic dysplasias asphyxiating thoracic dysplasia (Jeune syndrome) short rib polydactyly syndromes trisomy 18 chromosome 1q21.1 deletion syndrome​ a...
Article

Superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of superior mesenteric artery (SMA) results in compression of the third part of the duodenum leading to obstruction. It should not be confused wit...
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

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

Kyphomelic dysplasias

Kyphomelic dysplasias (also known as "pseudocampomelia") is thought to be a heterogeneous class of "bent bone" skeletal dysplasias.  Entities included in a differential for the class are: congenital bowing of the long bones cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type) ...
Article

Post-pneumonectomy syndrome

Post-pneumonectomy syndrome is delayed complication of pneumonectomy characterised by respiratory compromise caused by severe mediastinal shift and counterclockwise rotation of the heart and great vessels. Epidemiology Rare delayed complication of pneumonectomy, which is more common on the rig...
Article

Bouveret syndrome

Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.  Clinical presentation Bouveret syndrome occurs most commonly in elderly women. The presenting...
Article

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...
Article

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

Hemifacial microsomia

Hemifacial microsomia (HFM) is the second most common congenital facial anomaly after cleft lip/palate. The condition may vary from mild to severe. Goldenhar syndrome has been described as a variant of HFM, in which vertebral anomalies and epibulbar dermoids were present. Terminology HFM is al...
Article

Trotter syndrome

Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of: unilateral conductive hearing loss due to middle ear effusion trigeminal neuralgia due to perineural spread soft palate immobility
Article

Dressler syndrome

Dressler syndrome (DS) is a delayed immune-mediated or secondary pericarditis developing weeks to months after a myocardial infarction (MI). Terminology Dressler syndrome is not to be confused with pericarditis epistenocardica (which is seen earlier in the post-MI period) and is considered a r...
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

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

Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome. Clinical presentation Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarise the clinical feat...
Article

Hamman syndrome

Hamman syndrome, also known as Macklin syndrome, refers to spontaneous pneumomediastinum along with subcutaneous emphysema. Epidemiology It is a rare entity most often encountered in young adults. It is a known entity peri- and postpartum 3. Clinical presentation The condition is most common...
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

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

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

Fitz-Hugh-Curtis syndrome

Fitz-Hugh-Curtis syndrome (FHCS) refers to the development of a perihepatitis in association with pelvic inflammatory disease (PID).  Epidemiology The prevalence in adults with mild to moderate PID (gonorrhoic) may approximate 4% 10. The prevalence may be higher in genital tuberculosis 12. It ...
Article

Asherman syndrome

Asherman syndrome, also known as uterine synechiae, is a condition characterised by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility. Epidemiology There is a tendency for the condition to develop soon af...
Article

Chromosome 1q21.1 deletion syndrome

Chromosome 1q21.1 deletion syndrome is a condition caused by the deletion of a short portion of the long arm (q) of chromosome 1 at a locus called q21.1. The disorder demonstrates a heterogenous spectrum of manifestations including delayed milestones, learning difficulties, physical anomalies, c...
Article

Polycystic ovarian syndrome

Polycystic ovarian syndrome (PCOS), recently referred also as hyperandrogenic anovulation, is a chronic anovulation syndrome associated with androgen excess.  The diagnosis is made on the combined clinical, biochemical and sonographic grounds. The revised 2003 ASRM/ESHRE Rotterdam consensus cri...
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

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

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

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...
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 characterised by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing l...
Article

Cubital tunnel syndrome

Cubital tunnel syndrome is a type of ulnar nerve compression neuropathy which can occur from a pathological compression of the ulnar nerve at the cubital tunnel. Epidemiology It is the second most common peripheral neuropathy of the upper extremity 1,3. Clinical presentation Ulnar nerve comp...
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

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

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

HELLP syndrome

HELLP syndrome is a pregnancy-related condition and is an abbreviation for: haemolysis elevated liver enzymes and  low platelets It is considered a severe and life threatening form of pre-eclampsia although it can occur without co-existing pre-eclampsia.  Epidemiology The estimated inciden...
Article

Spondylocostal dysostosis

Spondylocostal dysostosis (SCDO) is a rare condition characterised by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
Article

Carcinoid syndrome

Carcinoid syndrome refers to a spectrum of symptoms that result from excessive hormone (mainly serotonin) secretion.  Epidemiology Occurs equally between the sexes, most commonly in the 40-70 year age group 3. Clinical presentation Diarrhoea is the most common and earliest symptom but others...
Article

Pre-axial polydactyly

Pre-axial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially). Epidemiology Pre-axial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000. Pathology Associations Pre...
Article

Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance of defect in fibrillin 1 gene. The affected patients are tall with long disproportionate extremities and have pectus excavatum, arachnodactyly, and may also experience upward and lateral optic lens dis...

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