Items tagged “syndrome”

Entrapment syndromes of the median nerve represent the median nerve being compressed at a number of distinct sites leading to a number of distinct clinical syndromes.  Entrapment is but one of the gamut of pathologies causing neuropathy, albeit one of the more common etiologies and, more import...

Anterior interosseous nerve syndrome (AINS), also known as Kiloh-Nevin syndrome, is one of three common median nerve entrapment syndromes, the other two being pronator teres syndrome and the far more common carpal tunnel syndrome. Epidemiology Anterior interosseous nerve syndrome is a rare ent...

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 (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: episodic vertigo sensorineural hearing loss tinnitus a sensation of fullness in the ear...

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, 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 (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 (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...

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 ...

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 syn...

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...