Eponymous Syndromes Flashcards
LS (258 cards)
Currarino syndrome / Currarino triad
association of 3 major features: (partial) sacral agenesis, anorectal stenosis (or other low anorectal malformation), and presacral masses, including meningocele, teratoma, enteric cyst, or combination of these
Guillain-Barre syndrome
characterized by peripheral polyneuropathy affecting all 4 limbs, w/ or w/o CN involvement, w/c causes acute neuromuscular failure, clinically characterized by symmetric weakness/paralysis, assoc w/ loss of tendon reflexes, w/ little or no sensory loss, as well as elevated proteins in CSF w/o pleocytosis
Klippel-Feil syndrome
congenital malformation characterized by failure in the segmentation of 2 or more cervical vertebrae
Sharpey fibers
fibers in the outer ring of the annulus fibrosus that originate and insert in the compact cortical bone in the ring apophysis
Sharpey’s fibers
anchors the annulus to the adjacent vertebral bodies / attaches the disks to the vertebral bodies
Tarlov cysts
enlarged root pouches
multipotential cells of Hensen’s node
where sacrococcygeal teratomas arise; these migrate to lie within the coccyx
Brown-Sequard syndrome
ipsilateral paralysis, decreased tactile, and deep sensation, and a contralateral deficit in pain and temperature sensation
Brown-Sequard syndrome
purely unilateral transverse lesion above midlumbar spinal cord levels
Beckwith-Wiedemann syndrome
inherited disorder w/ macrosomia, macroglossia, visceromegaly, omphalocele, embryonal tumors, adrenocortical cytomegaly, and renal abnormalities; neonatal hypoglycemia may also occur
Beckwith-Wiedemann syndrome
omphalocele, macroglossia, gigantism, macrosomia, hemihypertrophy; Wilms tumor is associated
Canavan disease
NAA aciduria and NAA accumulation in the brain
Terson syndrome
intraocular (subhyaloid - MC, retinal, or vitreous) hemorrhage that is found in 12-13% of patients with aSAH
Kernohan notch
As the herniating temporal lobe pushes the midbrain toward the opposite side of the incisura, the contralatral cerebral peduncle is forced against the hard, knife-like edge of the tentorium, forming a Kernohan notch
Duret hemorrhage
secondary hemorrhagic midbrain infarct caused by occlusion/compression of the perforating arteries that arise from the top of the basilar artery during severe descending transtentorial herniation when the midbrain is inferiorly displaced and the midbrain-pontine angle is closed
Charcot-Bouchard aneurysms
lenticulostriate microaneurysms; aka bleeding globes
Weston-Hurst disease
aka acute hemorrhagic leukoencephalopathy, hemorrhagic form of ADEM; multifocal hemorrhages confined to the WM in a patient with a history of febrile illness followed by sudden neurologic deterioration are most likely secondary to this disease
Aicardi syndrome
X-linked, triad: CC agenesis, pathognomonic chorioretinal lacunae, and infantile spasms; choroid plexus papillomas are also a part of this syndrome
Bochdalek’s flower basket
bulbous tufts of choroid plexus in the CPA cistern extending from the 4th ventricle through its lateral recesses (normal finding)
Carney complex / syndrome
rare AD syndrome characterized by lentiginous facial pigmentation / spotty pigmented lesions of the skin and mucosa, cardiac, cutaneous, and other myxomas, and multiple endocrine tumors (such as pituitary adenoma) / endocrine overactivity, and Cushing syndrome; melanotic schwannomas occurs in 10% of cases; GH-producing pituitary tumors; adrenal involvement causing ACTH-independent Cushing syndrome
McCune-Albright syndrome
polyostotic FD w/ endocrinopathy; classic triad: endocrine dysfunction (precocious puberty/gonadotropin-independent sexual precocity), cutaneous hyperpigmentation (cafe au lait spots), and multiple fibrous dysplasia lesions; tumors or nodular hyperplasia of a number of endocrine glands lead to hypersecretory syndromes such as acromegaly, hyperprolactinemia, and Cushing syndrome
Albright’s syndrome
polyostotic, unilateral form of FD w/ ipsilateral cafe-au-lait spots and endocrine dysfunction that produces precocious puberty in girls
Albright’s syndrome
polyostotic FD + pigmented skin macules and sexual precocity. Skin pigmentations have irregular margins (“coast of Maine”) as opposed to the smoother-bordered pigmentations (“coast of California”) of neurofibromatosis. Young girls
Dawson fingers
centripetal perivenular extension radiating outward from the lateral ventricles, seen in MS