PAGE 10 Flashcards
association of ascites and pleural effusion with ovarian fibromas
Meig / Meigs syndrome
mucinous tumors metastatic to the ovary from a mucinous gastric ca
Krukenberg tumor
remnant of the connection of the vitelline duct/omphalomesenteric duct to the distal ileum
Meckel diverticulum
AR; polydactyly with polycystic kidneys, midline CNS malformations (such as occipital encephalocele, Dandy-Walker malformation)
Meckel-Gruber syndrome
classic triad: occipital cephalocele, postaxial polydactyly, and dysplastic cystic kidneys; lethal
Meckel syndrome
oligohydramnios -> fetal compression: flattened faces, pulmonary hypoplasia, clubfeet, congenital hip dislocation, low-set ears, micrognathia
Potter sequence
congenital anomaly in which the scapula is hypoplastic and elevated
Sprengel deformity
Sprengel deformity + omovertebral vertebra, fused cervical vertebrae, hemivertebrae, kyphoscoliosis, and rib anomalies
Klippel-Feil syndrome
classic triad: short neck, low posterior hairline, and limited ROM due to fusion of cervical vertebrae
Klippel-Feil syndrome
capillary-lymphatic-venous malformation; Sturge-Weber syndrome + extensive cutaneous capillary malformations, limb hypertrophy, and vascular and/or
lymphatic malformations
Klippel-Trenaunay syndrome
triad of multiple hemangiomas, arteriovenous fistulas, and unilateral limb hypertrophy, due to bony and soft tissue overgrowth
Klippel-Trenaunay -Weber syndrome
C5 and C6 injury
Erb-Duchenne palsy
aka (massive) subchorionic thrombosis/hematoma; bulging protuberance that appears hypoechoic or cystic and that elevates and distorts the fetal surface of the placenta
Breus mole (misnomer–not a mole)
prevesical or retropubic space
space of Retzius
ovarian fossa
fossa of Waldeyer
part of the cranial end of the paramesonephric duct which may persist as a vesicular appendage to the fallopian tube
hydatid of Morgagni
raised protuberance projecting into the cyst cavity of mature cystic teratomas; aka dermoid plug
Rokitansky nodule
remnants of the embryologic wolffian duct system
Gartner duct cysts
spectrum, part is agenesis of the upper vagina and uterus
Mayer-Rokitansky-Kuster-hauser syndrome
aka PCOS
Stein-Levanthal syndrome
acute thrombophlebitis of the superficial veins of the breast
Mondor disease
primary adrenal insufficiency
Addison disease
co-existence of neonatal omphalocele or umbilical hernia in a large infant with organomegaly (liver, kidneys) and large tongue; some are more prone (although rarely) to Wilm’s tumor and liver or adrenal cortical tumors/adrenal cytomegaly
Addison disease
classic triad of macrosomia, omphalocele, and macroglossia
Beckwith-Wiedemann syndrome
gastric leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal pheochromocytoma
Carney triad (see Neuro)
primary aldosteronism; hypersecretion of aldosterone by adrenal adenoma
Conn’s syndrome
bilateral adrenal hyperplasia caused by unregulated ACTH production by a pituitary adenoma
Cushing’s disease
excessive serum cortisol (hydrocortisone and corticosterone); HTN, truncal obesity, easy bruisability, hirsutism, oligo/amenorrhea, generalized weakness, muscle atrophy, DM, and abdominal striae
Cushing’s syndrome
lipid storage disease, enlarged densely calcified adrenal glands and mild adrenocortical insufficiency; to distinguish from ordinary adrenal hemorrhage, this disease has marked hepatosplenomegaly
Wolman’s disease
rare lipidosis; plain films are usually diagnostic
Wolman disease
small kidney, predominantly because of cortical loss in the upper pole associated with cortical indentations; thought by some to be a variant of renal hypoplasia; currently thrught to be caused by scarring due to chronic pyelo rather than true congenital lesion
Ash-Upmark kidney
absence or hypoplasia of the uterus and absence or aplasia of the vagina
Rokitansky-Kuster-Hauser syndrome
form of inherited RCC also characterized by hair follicle hamartomas and frequent pneumotosis from rupture of thin-walled lung cysts; chromophobe tumors or mixed chromophobe tumors and oncocytomas
Birt-Hogg-Dube syndrome
aka tuberous sclerosis; syndrome includes epilepsy, mental retardation, and various hamartomas; renal angiomyolipomas and multiple renal cysts, retinal phakomas and cerebral hamartomas; small cutaneous angiofibromas on the face (adenoma sebaceum) / cutaneous, retinal, cardiac, cerebral hamartomas
Bourneville disease
male pseudohermaphroditism, glomerulonephritis, Wilms tumor
Drash syndrome
multiple renal cysts, multiple and bilateral RCC, adrenal pheochromocytomas, pancreatic cysts (serous cystadenomas), and pancreatic islet cell tumors/adenocarcinomas; retinal angiomas/hemangioblastomas and cerebellar hemangioblastomas; papillary cystadenomas of the epididymis
von Hippel-Lindau disease
mass effect against the kidney causing ischemia resulting to excess renin secretion and hypertension
Page kidney
hereditary nephritis/nephropathy and nerve deafness; cortical nephrocalcinosis may be seen
Alport syndrome
aka prune belly syndrome; rare; classic triad of absent abdominal musculature, undescended testicles, and urinary tract abnormalities
Eagle-Barrett syndrome
upper pole infundibulum is scissored between 2 vessels resulting in hydrocalyx and pain or, alternaltively, pressure from 1 crossing vessel resulting in
isolated hydrocalyx
Fraley syndrome
ulceration near the bladder dome that cracks and bleeds with bladder distention, which is a typical finding of interstitial cystitis at cystocopy
Hunner ulcer
nonneurogenic neurogenic bladder
Hinmann syndrome
bladder/paraureteral diverticulum occuring as a result of congenital deficiency in bladder musculature adjacent to the UVJ and commonly associated with VUR located lateral and cephalad to the ureteral orifice
Hutch diverticulum
congenital bladder diverticulum that occurs in close relationship to the ureteral orifice typically opening just above and lateral to it
Hutch diverticulum
pea-sized accessory sex glands within the urogenital diaphragm on either side of the membranous urethra
Cowper glands
connective tissue disorder which produces plaques in the tunica albuginea resulting in penile curvature and deformity
Peyronie disease
rapidly progressive polymicrobial necrotizing fasciitis involving the scrotum and perineum
Fournier gangrene
X-linked, triad: CC agenesis, chorioretinal lacunae, and infantile spasms; chroid plexus papillomas are also a part of this syndrome
Aicardi syndrome
through which pelvic tumors hematogenously spread resulting in subdural spinal lesions; through which prostate ca, just like infection, may preferentially ascend to the lumbar region/lower spine to reach the vertebrae
Batson’s venous plexus
ecchymosis over the mastoid process
Battle sign
one of the other terms for small vessel ischemic change; multi-infarct dementia
Binswanger disease
pulmonary chondromas, gastric stromal neoplasms (leiomyosarcomas), and pheochromocytoma
Carney’s syndrome
markedly elevated NAA levels (pathognomonic MR spectra) as a result of deficient aspartoacylase that metabolizes it, causing subsequent myelin destruction
Canavan’s / Canavan disease
bulbous tufts of choroid plexus in the CPA cistern extending from the 4th ventricle through its lateral recesses (normal finding)
Bochdalek’s flower basket
myxomas of the heart, breast, and skin as well as psammomatous melanotic schwannomas and osteochondromyxomas; associated with primary pigmented nodular adrenal dysplasia
Carney complex
rare AD syndrome characterized by lentiginous facial pigmentation / 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
Carney complex / syndrome
cerebellar hypoplasia with cyst
Dandy-Walker complex
aka “bleeding globes”; small pseudoaneurysms due to weakening of the lenticulostriate arteries
Charcot-Bouchard aneurysms
rare; transmissible spongioform encephalopathy caused by an infectious proteinaceous particle/prion
Creutzfeldt-Jakob disease
characeristic secondary brain stem lesion; midline hematoma in the tegmentum of the rostral pons and midbrain seen in association with descending transtentorial herniation
Duret hemorrhage
centripetal perivenular extension radiating outward from the lateral ventricles, seen in MS
Dawson fingers
cloverleaf skull due to bicoronal AND bilambdoid synostoses; bulging temporal bones, towering skull, and shallow orbits
Kleeblattschadel
aka basal cell nevus syndrome; associated with medulloblastomas + dense tentorial/falcine calcifications
Gorlin 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
Dyke-Davidoff-Masson syndrome
other term for septooptic dysplasia
de Morsier syndrome
anomalies of the kidneys, eyes, extremities, liver, and bile ducts are common in the JSRD spectrum; hallmark: molar tooth sign
Joubert syndrome, JS-related disorders
rare AR disorder in which hydranencephaly is accompanied by glomeruloid vasculopathy of the CNS vessels and neurogenic muscular atrophy
Fowler syndrome
rare; seen in uncal herniation as a focal impression on the contralateral cerebral peduncle against the tentorial margin due to displacement of the brain stem, resulting in peduncular hemorrhage or infarction; mass effect on CN III and compression of the contralateral cerebral peduncle cause characteristic blown pupil with ipsilateral hemiparesis
Kernohan notch
proton MRS images obtained from the basal ganglia, occipital cortex, and brainstem show elevations in lactate, which are most pronounced in regions where abnormalities are seen with routine T2 MRI
Leigh syndrome
olfactory aplasia/hypoplasia + hypogonadotropic hypogonadism; pituitary gland hypoplasia as well as visual and septal anomalies are common
Kallman syndrome
intracorneal deposit of copper, which is virtually diagnostic of Wilson disease
Kayser-Fleischer ring
prominent basal arachnoid membrane that forms trabeculae that cross the suprasellar cistern and cover the hypothalamus and diaphragm sellae
Liliequist membrane
lacunar skull; focal calvarial thinning and scooped out appearance
Luckenschadel
mitochondrial enzyme defect
Leigh disease
aka dysplastic cerebellar gangliocytoma
Lhermitte-Duclos disease
iris hamartomas
Lisch nodules
histologically mixed neoplasms (malignant peripheral nerve sheath tumors with rhabdomyoblastic and other heterologous elements) that are very characteristic of NF1
malignant Triton tumors
Brant: rare form of demyelination usually involving the medial zone of the corpus callosum seen most frequently in alcoholics, Osborn: rare disorder characterized by osmotic demyelination and later necrosis of the corpus callosum
Marchiafava-Bignami disease