Items tagged “syndrome”
274 results found
Pepper syndrome is a term not readily used in day-to-day practice and usually refers to primary adrenal neuroblastoma with extensive liver metastases 1. In essence, it refers to stage 4S neuroblastoma (see staging of neuroblastoma). Cohen syndrome, a genetic disorder, is sometimes referred to a...
Blueberry muffin syndrome
Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis. The syndrome was originally described in congenital...
Ménière disease (or idiopathic endolymphatic hydrops) is an inner ear disorder and as such can affect balance and hearing. Clinical presentation One or both ears can be affected. The chief symptoms are: vertigo (often attacks which can be incapacitating) hearing loss tinnitus a sensation o...
Li-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age 1. Associated malignancies sarcomas osteosarcoma rhabdomyosarcoma CNS tumors gliomas...
Locked-in syndrome is one of the brainstem stroke syndromes and can occur as a result of a pontine stroke that damages the ventral brainstem, pyramidal bundles and corticobulbar tracts 5. Clinical presentation Individuals who are "locked-in" are conscious with preserved cognitive function but ...
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...
Wilson Mikity syndrome
Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia. History and etymology Almost 51 years ago, Wilson...
Beta-propeller protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare subtype of neurodegeneration with brain iron accumulation disease (NBIA). It was previously known as static encephalopathy with neurodegeneration in childhood (SENDA), but it was renamed after the underlying genetic abnormalit...
Diagnosis almost certain
Published 18 Nov 2013
Diagnosis almost certain
Published 08 Dec 2013
Published 10 Dec 2013
Published 03 Mar 2014
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 ...
Diagnosis almost certain
Published 18 Nov 2014
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...
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-...
Hemimedullary syndrome, also known as Reinhold syndrome, occurs as a result of the occlusion of the ipsilateral vertebral artery proximal to the posterior inferior cerebellar artery and its anterior spinal artery branches 1-3. This situation causes lateral medullary infarct and medial medullary ...
Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment include small cerebellar vermis and dandy walker malformation cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognath...
Preaxial polydactyly refers to polydactyly where the additional digit is towards the first digit of the hand (radial side) or foot (medially). Epidemiology Preaxial polydactyly is less common than post-axial polydactyly, with an estimated incidence of 1 in 7000. Associations Preaxial polydac...
Heyde syndrome is an association between aortic valve stenosis and gastrointestinal hemorrhage. The etiology of the gastrointestinal bleeding in this setting is uncertain, but it is thought to be related to intestinal angiodysplasia. The strength of this association independent of age-related d...