Items tagged “syndrome”

274 results found
Article

Pepper syndrome

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...
Article

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...
Article

Ménière disease

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...
Article

Li-Fraumeni syndrome

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...
Article

Locked-in syndrome

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 ...
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

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...
Article

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...
Case

Jeune syndrome

 Diagnosis almost certain
Dr Micheál Breen
Published 18 Nov 2013
79% complete
X-ray
Case

Boerhaave syndrome

 Diagnosis almost certain
RMH Core Conditions
Published 08 Dec 2013
80% complete
CT
Case

Birt-Hogg-Dubé syndrome

Multiple, thin-wa...
 Diagnosis probable
Dr Luke Danaher
Published 10 Dec 2013
70% complete
MRIX-rayCT
Case

Budd-Chiari syndrome

 Diagnosis certain
Dr Henry Knipe
Published 03 Mar 2014
95% complete
CT
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 ...
Case

Jeune syndrome

 Diagnosis almost certain
Dr Daniel M Conroy
Published 18 Nov 2014
75% complete
X-ray
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...
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

Hemimedullary syndrome

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 ...
Article

Yunis-Varón syndrome

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...
Article

Preaxial polydactyly

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...
Article

Heyde syndrome

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...