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.

437 results found
Article

Osteoporosis pseudoglioma syndrome

Osteoporosis pseudoglioma syndrome is a rare autosomal recessive disease that is characterised by severe osteoporosis and blindness. This disease is frequently mistaken for osteogenesis imperfecta.  Epidemiology This disease is encountered in approximately 1 in 2 million births.  Pathology T...
Article

Otopalatodigital syndrome type I

Otopalatodigital syndrome type I is a rare genetic disorder marked by the association of  skeletal dysplasia hearing loss cleft palate and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).  It is ...
Article

Ovarian vein syndrome

Ovarian vein syndrome is a relatively rare condition where a dilated ovarian vein causes notching, dilatation, or obstruction of the ureter. This is usually secondary to varicoses of the ovarian vein or ovarian vein thrombosis and occurs at the point where the ovarian vein crosses the ureter.
Article

Paget-Schrötter syndrome

Paget-Schrötter syndrome, alternatively spelled Paget-Schroetter syndrome and also known as effort thrombosis, refers to primary thrombosis of the axillary and/or subclavian vein. It can be thought of as a venous equivalent of thoracic outlet syndrome. Epidemiology It is associated with forced...
Article

Pancoast syndrome

Pancoast syndrome results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumour or, less commonly, from other tumours involving the superior pulmonary sulcus. The syndrome consists of: shoulder pain C8-T2 radicular pain Horner syndrome The classical syndrome is u...
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

Parsonage-Turner syndrome

Parsonage-Turner syndrome is an acute idiopathic brachial neuritis. Epidemiology There is male predominance (M:F 2:1 to 11.5:1) 1. Patients from 3 months to 85 years old have been reported, but the majority are between 3rd to 7th decade of life. Clinical presentation The presentation is typi...
Article

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. This along with Down syndrome (T21) and Edward syndrome (T18) are the only three trisomies to be compatible with extrauterine life. However, few infants live more than a few days.  Epidemiology The es...
Article

Pelvic congestion syndrome

Pelvic congestion syndrome (some prefer pelvic venous insufficiency 9) is a condition that results from retrograde flow through incompetent valves in ovarian veins. It is a commonly missed and potentially-treatable cause of chronic abdominopelvic pain.  Epidemiology It tends to be more common ...
Article

PELVIS syndrome

PELVIS or LUMBAR syndrome is the combination of pelvic haemangiomas with other extracutaneous abnormalities. The syndrome may be incomplete.   Pathology PELVIS perineal haemangiomas external genital malformations lipomyelomeningocele vesicorenal anomalies imperforate anus skin tag LUMBA...
Article

Pendred syndrome

Pendred syndrome is an autosomal recessively inherited disorder characterised by a euthyroid goitre associated with sensorineural hearing loss.  Epidemiology It is considered the most common form of syndromic hearing loss and accounts for upwards of 10% of hereditary deafness. Pathology Ther...
Article

Pepper syndrome

Pepper syndrome is of interest only (the term is not readily used in day-to-day practice), and refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). 
Article

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is one of the polyposis syndromes. It has an autosomal dominant inheritance and is characterised by: multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum), but also colon and stomach; mouth and oesophagus are spared mucocuta...
Article

PHACE syndrome

PHACE syndrome, also known as cutaneous haemangioma–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: haemangiomas A: arterial anomalies C: coarctation of the aorta and ...
Article

Phlegmasia cerulea dolens

Phlegmasia cerulea dolens (PCD) 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). Epidemiology Left leg is more commonly affected than the right 4. Risk factors Risk f...
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

Pinch off syndrome

Pinch-off syndrome is a spontaneous catheter fracture, which is seen as a complication of subclavian venous catheterisation. Epidemiology It is a known complication of central venous catheterisation with a much-reduced incidence in current practice and is generally considered to be rare. Radi...
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

Plummer-Vinson syndrome

Plummer-Vinson syndrome, also known as the Paterson-Brown-Kelly syndrome, predisposes to hypopharyngeal squamous cell carcinoma and consists of four features: dysphagia iron-deficiency anaemia weight loss oesophageal webs or hypopharyngeal webs The condition is more common in women.
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

Poland syndrome

Poland syndrome refers to a congenital unilateral absence of the pectoralis major and minor muscles and is a recognised cause of unilateral hyperlucent hemithorax.  Epidemiology Poland syndrome is usually sporadic, although rare familial cases have been described 1. It is rare, with an estimat...
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

Popliteal artery entrapment syndrome

Popliteal artery entrapment syndrome (PAES) refers to symptomatic compression or occlusion of the popliteal artery due to a developmentally abnormal positioning of the popliteal artery in relation to its surrounding structures such as with the medial head of gastrocnemius (MHG) or less commonly ...
Article

Post ablation syndrome

Post-ablation syndrome occurs from 24 to 48 hours following ablation, and lasts no longer than 10 days1. It is believed to occur following cytokine release and tumor necrosis, causing patient fever and flu-like symptoms. If symptoms persist following 10 days after the procedure, alternate diagn...
Article

Post-embolisation syndrome

Post-embolisation syndrome (PES) is one of the commonest side effects of transarterial embolisation and chemoembolisation. It comprises of a constellation of fever, nausea/vomiting, and pain. It usually occurs within the first 72 hours after embolisation (liver lesion or uterine fibroids) and th...
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

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 more commonly involves th...
Article

Post thrombotic syndrome

Post thrombotic syndrome (PTS) is a syndrome of chronic venous insufficiency following deep vein thrombosis (DVT) due to valvular incompetence, which results in chronic reflux and chronic venous hypertension. Epidemiology PTS is a common complication following extensive DVT of the limbs. Up to...
Article

PPP syndrome

PPP syndrome is the extremely rare association of pancreatitis, panniculitis, and polyarthritis. Epidemiology Most commonly affects middle-aged male patients with a history of heavy alcohol use 1,2.  Clinical presentation In the majority of cases, abdominal symptoms are mild or absent, makin...
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

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

Progeria

Progeria is a term used for any syndrome in which a person is prematurely aged, however, it most commonly refers to Hutchinson-Gilford progeria syndrome (HGPS). Radiographic features Although the primary clinical manifestations of progeria include short stature and skin changes, the disease is...
Article

Pronator teres syndrome

Pronator teres syndrome (also called pronator syndrome) is one of three common median nerve entrapment syndromes; the other two being anterior interosseous nerve syndrome and the far more common carpal tunnel syndrome. Signs and symptoms result from compression of the median nerve in the upper f...
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

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a systemic condition characterised by the degeneration of elastic fibres. It has multiorgan manifestations. Epidemiology Its prevalence is estimated to be around 1 in 25,000 9.  Clinical presentation Patients may ...
Article

PTEN-related disease

PTEN (phosphatase and tensin homolog) gene mutation is associated with a few conditions known as PTEN-related diseases, with relatively similar clinical and radiological manifestations. They include: Bannayan-Riley-Ruvalcaba COLD syndrome Cowden syndrome Lhermitte-Duclos disease Those not f...
Article

Quadrangular space syndrome

Quadrangular space syndrome also known as quadrilateral space syndrome is an uncommon diagnosis mainly because of lack of literature on the subject and possible misdiagnosis. Epidemiology Quadrangular space syndrome is present on ~1% of shoulder MRIs 6.  Clinical presentation Patients presen...
Article

Radial tunnel syndrome

Radial tunnel syndrome is an entity that refers to entrapment of the radial nerve in the forearm, as it occurs in the supinator syndrome. Some authors believe this is an early form of the posterior interosseous nerve syndrome 5. Clinical presentation The syndrome is characterized by pain along...
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...
Article

Raghib syndrome

Raghib syndrome is a rare developmental complex. It consists of: persistence of the left superior vena cava coronary sinus ostial atresia atrial septal defect It has also been associated with other congenital malformations including ventricular septal defects, enlargement of the tricuspid an...
Article

Raine Syndrome

Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications.  Many individuals with this disorder are stillborn or die as neonates 4. ...
Article

Ramsay Hunt syndrome

Ramsay Hunt syndrome (RMS), also known as herpes zoster oticus, is essentially shingles of the facial nerve. Latent infection is present in the geniculate ganglion with painful vesicles showing in the external acoustic meatus, tympanic membrane and pinna associated with facial palsy. There may b...
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 features Clinically, 2 subtypes have been reported 1: classic type abducens nerve ...
Article

Reactive arthritis

Reactive arthritis (ReA) is a sterile inflammatory arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy. Terminology Reactive arthritis was formerly known as Reiter syndrome/disease, which is the...
Article

Rett syndrome

Rett syndrome is a rare neurodegenerative disease seen in young girls in the 2nd to 4th months of life.  The majority of cases result from a mutation in the MECP2 gene; a more severe subset of the disease arises from a CDKL5 mutation1. Clinical presentation Following a period of normal develop...
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

Right middle lobe syndrome

Right middle lobe syndrome refers to chronic right middle lobe collapse, without an obstructing lesion, and usually with associated bronchiectasis.  Epidemiology Right middle lobe syndrome is usually encountered in older adults, with a predilection for women (see Lady Windermere syndrome). It ...
Article

Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth retardation failure to thrive thrombocytope...
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

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

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

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterised by mental retardation, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical pres...
Article

Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome characterised by: intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: pseudohydrocephalus clinodactyly/clinobrachydactyly of the small finger a typical triangular type fa...
Article

Ruvalcaba syndrome

Ruvalcaba syndrome (also known as Ruvalcaba-Myhre-Smith syndrome) is one of a group of disorders related to congenital skeletal disturbance. It is characterized by: macrocephaly hypoplastic genitalia mental (not invariably) and physical retardation short stature peculiar facies micrognathi...
Article

Sakati-Nyhan syndrome

The Sakati-Nyhan syndrome, also known as Sakati-Nyhan-Tisdale syndrome or acrocephalosyndactly type III, is an extremely rare type of acrocephalopolysyndactyly. Its main features include: craniofacial defects congenital limb abnormalities congenital heart defects History and etymology It w...
Article

Sampson syndrome

Sampson syndrome refers to a type of superficial endometriosis, where multiple superficial plaques may be seen scattered in the peritoneum and pelvic ligaments. Clinical presentation The patient may present with non-specific abdominal pain. Radiographic features At laparoscopy, they are typi...
Article

SAPHO syndrome

The SAPHO syndrome is an acronym that refers to a rare condition that is manifested by a combined occurrence of 2 S: synovitis A: acne P: pustulosis  H: hyperostosis O: osteitis Epidemiology It classically tends to present in young to middle-aged adults. Presentation in the paediatric pop...
Article

Schimmelpenning syndrome

Schimmelpenning syndrome is a rare and variable congenital multisystem condition characterised by extensive linear naevi sebacei and abnormalities in different neuroectodermal organ systems.  Clinical presentation Classical triad including sebaceous nevi, seizures, and intellectual disability....
Article

Sclerosing encapsulating peritonitis

Sclerosing encapsulating peritonitis is a rare benign cause of acute or subacute small bowel obstruction. It is characterised by total or partial encasement of the small bowel within a thick fibrocollagenous membrane. Terminology The condition was originally termed abdominal cocoon. It has als...
Article

Sclerosteosis

Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1. Epidemiology Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
Article

Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic injuries associated with three-point seatbelts: bowel perforation mesenteric tear sternal fracture lumbar spine fracture
Article

Seckel syndrome

Seckel syndrome is an autosomal recessive congenital dwarfing disorder. Epidemiology The estimated incidence is ~ 1:10,000. There is no recognised gender predilection. Clinical features It is clinically characterised by many features including intrauterine growth restriction (IUGR) postnat...
Article

Segmental arterial mediolysis

Segmental arterial mediolysis (SAM) is an increasingly recognised vascular disease of the middle-aged and elderly and a leading cause of spontanoeus intra-abdominal haemorrhage. It is characterised by fusiform aneurysms, stenoses, dissections and occlusions within splanchnic arterial branches. I...
Article

Serrated polyposis syndrome

Serrated polyposis syndrome (SPS), also called hyperplastic polyposis syndrome, is characterised by the presence of multiple serrated polyps or a mixture of serrated and hyperplastic polyps, with the exact number required for diagnosis dependent on location and family history. SPS has an hetero...
Article

Sezary syndrome

Sézary syndrome (SS) is a type of cutaneous T-cell lymphoma. It is sometimes considered an advanced and leukaemic form of cutaneous T-cell lymphoma (CTCL). Clinical presentation It is clinically characterised by an extensive erythematous rash covering most of the body as well as the presence o...
Article

Sheehan syndrome

Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume haemorrhage and hypovolaemic shock, either during delivery or afterwards. Clinical presentation pituitary failure 1 may be silent and present with dela...
Article

Shone syndrome

Shone syndrome, also known as Shone complex, is a rare syndrome characterised by left-sided, obstructive congenital heart defects. Epidemiology Shone syndrome is thought to be very rare, accounting for less than 1% of all congenital heart disease 1. Clinical presentation Patients, usually ne...
Article

Short rib polydactyly syndrome

Short rib polydactyly syndrome(s) (SRPS) comprise a rare group of severe osteochondrodysplasias. There are four major recognised types present: type I: Saldino-Noonan type type II:: Majewski type type III: Verma-Naumoff type type IV: Beemer-Langer type There may also be other very rare type...
Article

SHORT syndrome

SHORT syndrome refers to an acronym which primarily comprises of the following features: S: short stature H: hyperextensibility of joints and/or inguinal hernia O: ocular depression R: Rieger anomaly T: teething delay In a addition to these there can be numerous associated minor features w...
Article

Shwachman-Diamond syndrome

The Shwachman-Diamond syndrome (SDS) or Shwachman-Bodian-Diamond syndrome (SBDS) is a rare autosomal recessive disorder characterised by 1 : exocrine pancreatic insufficiency metaphyseal chondroplasia bone marrow hypoplasia (cyclic neutropenia) Clinical presentation Patients with Shwachman-...
Article

Shy-Drager syndrome

The Shy-Drager syndrome is a neurodegenerative disease, and one of the manifestations of multiple systemic atrophy (MSA). Terminology It is important to note that the current belief that olivopontocerebellar degeneration, Shy-Drager syndrome and striatonigral degeneration are different manifes...
Article

Silent sinus syndrome

The silent sinus syndrome represents maxillary sinus atelectasis that results in painless enophthalmos, hypoglobus and facial asymmetry 1-3. Some authors restrict the term to patients with no history of sinusitis, trauma or surgery 2. Epidemiology Silent sinus syndrome usually presents in the ...
Article

Sinus tarsi syndrome

Sinus tarsi syndrome (STS) is the clinical syndrome of pain and tenderness of the lateral side of the hindfoot, between the ankle and the heel. Imaging often demonstrates the ligaments and soft tissues in the sinus tarsi are injured. Epidemiology Sinus tarsi syndrome has been described in danc...
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

Slit ventricle syndrome

Slit ventricle syndrome is defined as the radiological appearance of slit-like ventricles on CT and MRI images in patients with ventriculoperitoneal shunt. Mild forms are seen in adults and more severe forms are seen in children. Patients must be symptomatic to be diagnosed with slit ventricle s...
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

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency is an inborn error of cholesterol synthesis.  Epidemiology The estimated incidence is at 1:20000-40000 live births. Prevalence may be greater in Nordic countries. Pathology The condition often results f...
Article

Snapping hip syndrome

Snapping hip syndrome is simply an audible snapping sound produced during motion of the hip. It has both intra- and extra-articular causes. Pathology Extra-articular causes lateral iliotibial band snapping over the greater trochanter (iliotibial band syndrome - not always audible) gluteus ...
Article

Sotos syndrome

Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterised by the prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known, but is estima...
Article

Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.  Pathology It is reported that ~50% (range 28-75%) range of paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.  Along with Spigelian hernia and cryptorch...
Article

Spinal cord injury

Spinal cord injury (SCI) can be traumatic or non-traumatic (i.e. neoplastic/stenosis) but the syndromes associated with spinal cord injury can be seen in all aetiologies. Injury to the spinal cord can be incomplete or complete and depends upon the mechanism of injury. This is important as diffe...
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

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centres.  Clinical presentation short neck short trunk with protruding abdomen  normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly l...
Article

Stauffer syndrome

Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.  History and etymology It is named after Maurice H. ...
Article

Stevens Johnson syndrome

Stevens Johnson syndrome (SJS) is an acute inflammatory skin condition.  Terminology SJS is on a spectrum of disease with toxic epidermal necrolysis (TEN) at the more severe end. Terminology depending on how much surface area is involved 1,2: SJS: <10% SJS-TEN overlap: 10-30% TEN: >30% Epi...

Updating… Please wait.
Loadinganimation

Alert accept

Error Unable to process the form. Check for errors and try again.

Alert accept Thank you for updating your details.