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Posterior reversible encephalopathy syndrome

Posterior reversible encephalopathy syndrome (PRES), also known as reversible posterior leukoencephalopathy syndrome (RPLS), 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 wi...

Piriformis syndrome

Piriformis syndrome is a rare entrapment neuropathy resulting in radicular pain radiating into the buttock and hamstrings. The entity is controversial as are the putative causes. Clinical presentation Sciatic pain reproduced on passive internal rotation/adduction of a flexed hip is considered ...

Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...

Parsonage-Turner syndrome

Parsonage-Turner syndrome, also known as neuralgic amyotrophy or idiopathic brachial plexitis, is an acute idiopathic and self-limited brachial neuritis. Epidemiology There is a male predominance (M:F 2-11.5:1) 1. Patients from 3 months to 85 years old have been reported, but the majority are ...

Pancoast syndrome

Pancoast syndrome (historically known as Ciuffini-Pancoast-Tobías syndrome, Hare syndrome or variation thereof) results from involvement of the brachial plexus and sympathetic chain by a Pancoast tumor or, less commonly, from other tumors - or even non-malignant disease - involving the lung apex...

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 (i.e. venous thoracic outlet syndrome). Epi...

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...

Nutcracker syndrome

Nutcracker syndrome is a vascular compression disorder that refers to the compression of the left renal vein, most commonly between the superior mesenteric artery (SMA) and aorta, although other variations can exist 1. This can lead to renal venous hypertension, resulting in the rupture of thin-...

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....

Nail-patella syndrome

Nail-patella syndrome, also known as Fong disease, is a rare autosomal dominant condition which results from symmetrical mesodermal and ectodermal abnormalities. Radiologically, the classic findings are the abnormal patellae and posterior iliac horns, the latter is said to be pathognomonic. Ter...

Möbius syndrome

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

Milwaukee shoulder

Milwaukee shoulder refers to a destructive shoulder arthropathy due to the deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis. Epidemiology Milwaukee shoulder frequently affects older women, often with a history of trau...

Maffucci syndrome

Maffucci syndrome is a congenital nonhereditary mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas 6,7, generally caused by somatic mutations in IDH1 or IDH2 6. On imaging, it is usually portrayed by a short limb wit...

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 characterized by: pheochromocytoma(s): in 50% of patients, often bilateral, and can be extra-adrenal medullary thyroid cancer: 100% of patient...

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1), also known as Wermer syndrome, is an autosomal dominant genetic disease that results in proliferative lesions in multiple endocrine organs, particularly the pituitary gland, pancreas, and parathyroid glands. There are other multiple endocrine neoplas...

Multiple endocrine neoplasia type IIa

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

Hereditary non-polyposis colorectal cancer

Hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome, is an autosomal dominant condition which predisposes to a host of malignancies, including colorectal cancer. It is considered the most frequent form of hereditary colorectal cancer. Diagnosis requires evaluation us...

Lemierre syndrome

Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic anaerobic septicemia in the setting of initial bacterial oropharyngeal infection such as pharyngitis/tonsillitis into lateral pharyngeal spaces of the neck ...

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood. Epidemiology Leigh syndrome is encountered in approximately 1 in 40,000 births, although some popu...

Kasabach-Merritt syndrome

Kasabach-Merritt syndrome, also known as hemangioma thrombocytopenia syndrome, is a rare life-threatening disease found in infants in which a rapidly growing vascular tumor is responsible for thrombocytopenia, microangiopathic hemolytic anemia and consumptive coagulopathy. Pathology Vascular t...

Jaffe-Campanacci syndrome

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

Hypothenar hammer syndrome

Hypothenar hammer syndrome occurs from trauma to the distal ulnar artery or proximal portion of superficial palmar arch as a result of repetitive trauma to the hypothenar eminence. Originally described in patients using hammers and screwdrivers, it is also seen in various athletes such as basket...

Hereditary multiple exostoses

Hereditary multiple exostoses/osteochondromas, also known as diaphyseal aclasis, osteochondromatosis, or simply multiple osteochondromas, is an autosomal dominant condition, characterized by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an ...

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare inherited disorder characterized by abnormal blood vessel formation in the skin, mucous membranes, and organs including the lungs, liver, and central nervous system. Epidemiology Worldwide prevalen...

Heerfordt syndrome

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

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...

Haglund syndrome

Haglund syndrome refers to the triad (Haglund triad) of: insertional Achilles tendinopathy retrocalcaneal bursitis Haglund deformity (i.e. posterosuperior calcaneal exostosis) Terminology Haglund syndrome is a painful condition of the heel and its diagnosis requires a combination of clinica...

Gradenigo syndrome

Gradenigo syndrome consists of the triad of: suppurative otitis media with persistent otorrhea and ear pain 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 div...

Edwards syndrome

Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three autosomal trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so. Epidemiology ...

Complex regional pain syndrome

Complex regional pain syndrome (CRPS), also known as Sudeck atrophy, is a condition that can affect the extremities in a wide clinical spectrum. No one imaging study is sensitive or specific to rule in or rule out the syndrome. Terminology Two forms of complex regional pain syndrome have been...

Celiac artery compression syndrome

Celiac artery compression syndrome, also known as median arcuate ligament syndrome, Dunbar syndrome, celiac axis syndrome or Harjola-Marable syndrome, is a rare condition characterized by upper abdominal pain in the setting of compression of the celiac trunk by the diaphragmatic crura. Although...

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...

Osmotic demyelination syndrome

Osmotic demyelination syndrome refers to acute demyelination seen in the setting of osmotic changes, typically with the rapid correction of hyponatremia. It is the more recent term replacing central pontine myelinolysis, recognizing that extrapontine structures can also be affected, previously k...

Carney triad

Carney triad is a rare syndrome defined by the coexistence of three tumors: extra-adrenal paraganglioma initially, only functioning extra-adrenal paragangliomas were included, but subsequent work includes non-functioning extra-adrenal paragangliomas 1 gastric gastrointestinal stromal tumors (...

Carney complex

Carney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by 1-4: cardiac myxoma often multiple seen in two-thirds of patients with Carney complex skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera M...

CREST syndrome

CREST syndrome (also known as limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for C - calcinosis R - Raynaud phenomenon E - oesophageal dysmotility S - sclerodactyly T - telangiectasia See also systemic sclerosis

CHARGE syndrome

CHARGE syndrome is a phenotype associated with CHD7 gene mutation originally defined by a constellation of congenital anomalies: C: coloboma H: heart defects A: atresia choanae R: retarded growth and development G: genital hypoplasia E: ear abnormalities and/or deafness According to updat...

Budd-Chiari syndrome

Budd-Chiari syndrome, also known as hepatic venous outflow obstruction (HVOO), refers to the clinical picture that occurs when there is partial or complete obstruction of the hepatic veins. There is no clear consensus regarding the number of occluded veins, some authors claim that there should...

Acute respiratory distress syndrome

Acute respiratory distress syndrome (ARDS) is a form of acute lung injury and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury. This is a disti...

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