Eponymous Syndromes Flashcards
LS
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
de Morsier syndrome
other term for septooptic dysplasia
Dyke-Davidoff-Masson syndrome
cerebral hemiatrophy typically caused by an in utero or early childhood cerebral insult; lack of ipsilateral brain growth causes the calvaria and diploic space to thicken, whereas the paranasal sinuses and mastoids become enlarged and hyperaerated
Fowler syndrome
rare AR disorder in which hydranencephaly is accompanied by glomeruloid vasculopathy of the CNS vessels and neurogenic muscular atrophy
Gardner syndrome
multiple osteomas occur together w/ skin tumors and colon polyps
Gardner’s syndrome
AD, consists of multiple osteomas, multiple colonic polyps, epidermoid and sebaceous cysts, desmoid tumors of the skin, and impacted supernumerary and permanent teeth
Ollier disease
multiple enchondromas or enchondromatosis
Maffucci syndrome
enchondromatosis, hemangiomas / enchondromas associated w/ soft tissue hemangiomas
Gorlin syndrome
aka basal cell nevus syndrome; associated with medulloblastomas + dense tentorial/falcine calcifications
Joubert syndrome, JS-related disorders
anomalies of the kidneys, eyes, extremities, liver, and bile ducts are common in the JSRD spectrum; hallmark: molar tooth sign
Kallman syndrome
olfactory aplasia/hypoplasia + hypogonadotropic hypogonadism; pituitary gland hypoplasia as well as visual and septal anomalies are common; neuronal migration disorder that results in hypoplastic or absent olfactory nerves and sulci
Lhermitte-Duclos disease
dysplastic cerebellar gangliocytoma; a major CNS manifestation of Cowden syndrome (multiple hamartoma syndrome; AD phacomatosis w/ vast majority of patients having hamartomatous neoplasms of the skin combined with neoplasms and hamartomas of multiple other organs; AD familial tumor syndrome that causes a spectrum of hamartomas and neoplasms; multiple hamartoma-neoplasia syndrome or PTEN hamartoma tumor syndrome; breast, thyroid, endometrium, and GI cancers are the most prevalent other neoplasms)
Cowden-Lhermitte-Duclos / COLD syndrome
LDD + CS
Lisch nodules
iris hamartomas
Liliequist membrane
prominent basal arachnoid membrane that forms trabeculae that cross the suprasellar cistern and cover the hypothalamus and diaphragm sellae
Luckenschadel
lacunar skull; focal calvarial thinning and scooped out appearance
malignant Triton tumors
histologically mixed neoplasms (malignant peripheral nerve sheath tumors with rhabdomyoblastic and other heterologous elements) that are very characteristic of NF1
Marchiafava-Bignami disease
rare disorder characterized by osmotic demyelination and later necrosis of the corpus callosum
Morel laminar necrosis
extracallosal lesion/cerebral cortical lesion seen in the frontolateral cortex in Marchiafava-Bignami disease
median prosencephalic vein of Markowski
persistent embryonic precursor of the vein of Galen
vein of Galen
formed by the union of the bilateral internal cerebral veins and basal veins of Rosenthal in the quadrigeminal cistern; unites with the inferior sagittal sinus at the falcotentorial junction to form the straight sinus
vein of Labbe
prominent posterior anastomotic vein that courses inferolaterally over the temporal lobe to drain into the transverse sinus - INFERIOR ANASTOMOTIC VEIN
vein of Trolard
dominant anastomotic superior cortical vein that receives the superficial middle cerebral vein and courses upward from the sylvian fissure to join the SSS - SUPERIOR ANASTOMOTIC VEIN
Miller-Dieker syndrome
classic lissencephaly + severe facial deformities; frontal bossing, hypertelorism, upturned nose, small jaw, and prominent upper lip with thin vermilion border
Nelson syndrome
rapid enlargement of a pituitary adenoma following bilateral adrenalectomy, presentation of corticotroph tumors
Pallister-Hall syndrome
digital malformations and other midline (epiglottis/larynx) and cardiac, renal, or anal anomalies in addition to the hypothalamic hamartomas
rhabdoid tumor predisposition syndrome
AD familial cancer syndrome characterized by a markedly increased risk of developing malignant rhabdoid tumors (MRT) including AT/RT; may develop AT/RT w/ a synchronous renal or extrarenal MRT; other CNS tumors assoc w/ RTPS: choroid plexus carcinoma and rhabdoid meningioma
Richter syndrome
transformation of CLL into diffuse large non-Hodgkin lymphoma
Pot puffy tumor
fluctuant (doughy), tender erythematous swelling of the frontal scalp; specific sign for frontal bone osteomyelitis w/ a subperiosteal asbscess; most occur in the setting of untreated frontal sinusisits; epidural empyema may for if posterior table of frontal sinus is breached;
Sheehan syndrome
ischemic necrosis of anterior pituitary due to severe postpartum hemorrhage, which may result to secondary empty sella; rare variant of pituitary apoplexy
Sneddon syndrome
antiphospholipid syndrome with widespread livedo reticularis and ischemic cerebrovascular episodes
Sturge-Weber syndrome
encephalo-trigeminal angiomatosis
Taylor cortical dysplasia
other term for focal cortical dysplasia
Walker-Warburg syndrome
triad of congenital muscular dystrophy, brain anomalies (primarily cobblestone cortex), and ocular abnormalities
Wyburn-Mason syndrome
AVMs are found in both the retina and brain
Richter hernias
involve only a portion of the antimesenteric wall of the bowel in the hernia sac
main duct of Wirsung
joins CBD at the sphincter of Oddi to enter the duodenum
accessory duct of Santorini
drains the anterior and superior portions of the pancreatic head; drains into the duodenum via the minor papilla
Caroli disease
rare congenital anomaly of the biliary tract characterized by sacular dilatation of the intrahepatic biliary tree, cholangitis, and gallstone formation in the absence of cirrhosis or portal hypertension
Caroli syndrome
Caroli disease + congenital hepatic fibrosis
Klippel-Trenaunay-Weber syndrome
cutaneous hemangioma, venous varicosities, soft tissue and bony hypertrophy of an extremity; associated with multiple splenic hemangiomas that appear strikingly cystic
Klippel-Trenaunay-Weber syndrome
associated with cavernous hemangioma of the colon
Von Hippel-Lindau disease
rare AD disorder characterized by cerebellar, spinal cord, and retinal hemangioblastomas, renal and pancreatic cysts, clear cell RCC, and pheochromocytoma
Von Hippel-Lindau disease
AD; cerebellar hemangioblastoas, retinal angiomatosis, RCCs, pheochromocytoma, or spinal hemangioblastomas
Birt-Hogg-Dube syndrome
hereditary cancer syndrome associated with early development of multicentric and bilateral RCCs - just like vHL but RCC is of chromophobe type
Gerota fascia
anterior renal fascia; one layer of connective tissue; thin
Zuckerkandl fascia
posterior renal fascia; consists of 2 layers of connective tissue; thicker than the anterio renal fascia
Hasselbach triangle
inguinal triangle; lateral - inferior epigastric vessels, medial - edge of rectus, inferior - pubic bone
Petit triangle
inferior lumbar triangle; small triangle of internal oblique musculature just above the iliac crest, exposed as the EO muscle attaches anteriorly to the iliac crest and tendon of lat dorsi passes posteriorly; the site of spontaneous lumbar hernias
Spigelian hernia
classic site is in the aponeuroses of the transversus abdominis and IO muscles just lateral to the rectus abdominis near the level of the arcuate line; not apparent when small because they are confined deep to the strong EOM
Morgagni hernia
anterior hernia; retrosternal or just lateral to the xiphoid on either side; weakness at the site of penetration of the diaphragm by superior epigastric vessels
Bochdalek hernia
posterior hernia; incomplete closure of pleuroperitoneal canal; as likely on the right as on the left
Richter hernia
partial hernia involving only one side of the bowel wall
Boerhaave syndrome
violent vomiting leading to a distal esophageal tear
Nissen fundoplication
complete 360 deg wrap
Toupet fundoplication
partial 270 deg wrap
smooth muscle pacemaker cells of Cajal
from where GISTs arise
Krukenberg tumor
drop mets to the ovaries by gastric ca?
Zollinger-Ellison syndrome
increased gastric acid secretion secondary to the neuroendocrine tumor, gastrinoma; diffuse rugal fold thickening can be seen in this condition
Meckel diverticulum
remnant of omphalomesenteric duct; approximately 30 cm from ileocecal valve along the antimesenteric border of the ileum; seldom diagnosed on CT except for rare cases of complication
Whipple disease
malabsorptive state caused by gram+ bacillus; jejunal fold thickening and very low density bulky mesenteric lymphadenopathy
Whipple disease
multiorgan disorder caused by Trophermyema whippleii; multiple low-attenuation lymph nodes or diffuse mediastinal infiltration. Abnormal phagocystosis of bacteria results in extensive accumulation of macrophages w/ fatty vacuoles in affected organs.
SMA syndrome
mechanical obstruction of 3rd duodenum as it passes b/n aorta and SMA; usually setting of rapid weight loss to the point of cachexia; CT: abrupt tapering of 3rd duodenum as it crosses midline
Riedel’s lobe
MC congenital anomaly of the liver; excessive development; more common in women; senile accessory lobe that extends caudally from the inferior aspect of the right lobe and often has a bulbous configuration
von Meyenburg complexes
biliary hamartomas; benign malformations of bile ducts which present as small, cyst-like deformed bile ducts embedded within dense connective tissue
von Gierke disease
glycogen storage disease type I; hepatic adenomas are common
Budd-Chiari syndrome
rare; obstruction of hepatic venous outflow, at the level of the large hepatic veins or the IVC
Ivemark syndrome
congenital asplenia syndrome; right isomerism
Bouveret’s syndrome
obstruction at the level of the duodeum in whom a gallstone has gained access to the GIT via GB perforation
Rokitanksy-Aschoff sinuses
formed by overgrown mucosa protruding through the thickened muscular layer in adenomyomatosis
Caroli disease
type V choledochal cysts; communicating cavernous ectasia of the intrahepatic bile ducts; multiple cystic dilatations of the intrahepatic bile ducts
Mirrizzi syndrome
obstruction of CBD or CHD, usually in the setting of gallbladder neck or cystic duct obstruction by one or more impacted stones; propensity is enhanced in patients in whom the cystic duct parallels the CHD; definition has been expanded to include variants in w/c stones pass into CHD via a cholecystocholedochal fistula
Gamna-Gandy bodies
small siderotic nodules in the spleen that contain varying amounts of hemosiderin, fibrous tissue, and calcium
Gaucher disease
AR deficiency of the lysosomal enzyme glucocerebrosidase; accumulation within macrophages of glucocerebroside (a breakdown product from cell membranes)
Gaucher cells
lipid-laden macrophages
Santorini
dorsal duct
Wirsung
ventral duct
Schwachmann-Diamond syndrome
2nd mcc of exocrine pancreatic insufficiency in children; lipomatosis of the pancreas is the typical pathologic feature of the syndrome
Schwachmann-Diamond syndrome
AR hereditary pancreatic disease; exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism; fatty replacement of the pancreas
Johansen-Blizzard syndrome
congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption; pancreatic insufficiency. Total lack of normal panc and fatty replacement of pancreatic bed is the characteristic CT finding. DM will develop (in contrast to Schwachman-Diamond syndrome).
