Diagnoses Flashcards
↑ Testosterone, ↑ LH
Defective androgen receptor
↑ Testosterone, ↓ LH
Testosterone-secreting tumor, exogenous steroids
↓ Testosterone, ↑ LH
Primary Hypogonadism
↓ Testosterone, ↓ LH
Hypogonadotropic Hypogonadism
Ovaries present, but external genitalia are virilized or ambiguous
Female pseudo-hermaphroditism (XX)
- due to excessive & inappropriate exposure to androgenic steroids during early gestation (i.e. congenital adrenal hyperplasia or exogenous administration of androgens during early pregnancy)
Testes present, but external genitalia are female or ambiguous
Male pseudo-hermaphroditism (XY)
- most common form is androgen insensitivity syndrome (testicular feminization)
<35 yr old woman w/ small, mobile, firm breast mass w/ sharp edges that ↑ size & tenderness w/ pregnancy
Fibroadenoma
(NOT a precursor to breast cancer)
(pregnancy = ↑ estrogen)
Small tumor that grows in lactiferous ducts. Typically beneath areola.
Serous or bloody discharge.
Intraductal papilloma
slight ↑ risk for carcinoma
Large bulky mass of connective breast tissue & cysts. “Leaf-like” projections. Age = 60s
Phylloides tumor
some may become malignant
Breast mass that fills ductal lumen & arises from ductal hyperplasia. No basement membrane penetration.
Ductal Carcinoma in situ (DCIS)
subtype w/ caseous necrosis = Comedocarcinoma
Firm, fibrous “rock hard” mass w/ sharp margins & small, glandular, duct-like cells. Classic “stellate” morphology
Invasive ductal tumor
worst & most invasive – also most common
Breast tumor w/ orderly row of cells (“Indian file”). Bilateral w/ multiple lesions in the same location
Invasive lobular tumor
Breast mass w/ fleshy, cellular lymphocytic infiltrate
Medullary tumor (invasive) (good prognosis)
Dermal lymphatic invasion by breast carcinoma. Peau d’orange; neoplastic cells block lymphatic drainage
Inflammatory breast cancer
50% survival @ 5 years
Eczematous patches on nipple. Paget cells = large cells in epidermis w/ clear halo.
Paget’s disease of breast.
Suggests underlying DCIS. Also seen on vulva.
Most common cause of acute mastitis
S. aureus
Elevated α-fetoprotein (AFP) & AChE in amniotic fluid during pregnancy
Neural tube defect (ass’d w/ low Folate)
- Spina bifida (Dura intact)
- Meningocele (meninges herniate)
- Meningmyelocele (meninges & SC herniate)
Acute paralysis & “locked-in syndrome” during correction of electrolytes in hospital
Central Pontine Myelinolysis
- Massive axonal demyelination in pontine white matter tracts due to iatrogenic, overly rapid correction of Na+ levels –hyponatremia
- apparent on MRI w/ FLAIR
Stroke causing voice hoarseness & dysphagia
Lateral medullary (Wallenberg’s) syndrome
- damage to nucleus ambiguous from PICA lesion
- don’t “PICk A” “HORSE” that “can’t eat”
Stroke causing Ataxia, Dysmetria
Middle & Inferior Cerebellar Peduncles
LMN lesions ONLY, causing flaccid paralysis (2 possible dxs)
Poliomyelitis
- LMN lesion w/ signs of infection (CSF)
Werdnig-Hoffman disease
- congenital - “floppy baby” w/ hypotonia & tongue fasciculations (AR)
(both due to destruction of Anterior Horn)
α-synuclein defect causes…
2 possible Dxs
Parkinson’s Disease
&
Lewy Body Dementia
(Parkinsonism w/ dementia & hallucinations)
Spherical tau protein aggregation in Frontotemporal lobe
Pick’s Disease
(dementia, aphasia, parkinsonian Sx;
change in personality)
Brain tumor w/ eosinophilic corkscrew fibers
Pilocytic Astrocytoma (Rosenthal fibers)
- Children, posterior fossa (cerebellum), benign
Brain tumor w/ Homer-Wright Rosettes
Medulloblastoma (also has small blue cells)
- highly malignant, cerebellar, compresses 4th ventricle – hydrocephalus
- primitive neuroectoderm
- can cause “dropped metastasis” to SC
Brain tumor w/ perivascular pseudorosettes & basal ciliary bodies
Ependymoma
Brian tumor w/ foamy cells & high vascularity
Hemangioblastoma
- ass’d w/ von Hippel Lindau when found w/ retinal angioma
- can produce EPO – polycythemia
Brain tumor w/ bitemporal hemianopia that is NOT a pituitary adenoma
Craniopharyngioma
- from remnants of Rathke’s pouch
- calcification common
Bone is replaced by fibroblasts, collagen, & irregular bony trabeculae
Polyostotic Fibrous Dysplasia
Female child w/ precocious puberty, multiple unilateral bone lesions, & cafe-au-lait spots
McCune-Albright Syndrome
a form of polyostotic fibrous dysplasia
Dry eyes, dry mouth, & parotid enlargement in a 40-60 yr-old female
Sjogren’s Syndrome
- autoantibodies to ribonucleoprotein antigens: SS-A (Ro), SS-B (La)
- Lymphocytic infiltration of exocrine glands
- ass’d w/ Rheumatoid Arthritis
Conjuctivitis, Urethritis, & Arthritis
Reactive Arthritis (Reiter’s Syndrome)
anti-Smith antibodies
Systemic Lupus Erythematosus
very specific, but not prognostic
Others: ANA, anti-dsDNA, & anti-histone (drug-induced)
Pain & stiffness in shoulders & hips w/ NO ass’d muscle weakness in woman >50 yrs.
Polymyalgia Rheumatica
- ass’d w/ Temporal Giant Cell Arteritis
- inc’d ESR, normal CK
Metaplasia “mass” of skeletal muscle to bone @ site of previous trauma (Jake’s shoulder)
Myositis ossificans
Young child with fatty diarrhea, failure to thrive (malabsorption), & neurologic manifestations. Labs show decreased cholesterol in blood.
Abetalipoproteinemia
- dec’d synthesis of apolipoprotein B leads to inability to generate chylomicrons, & therefore dec’d secretion of cholesterol & VLDL into bloodstream. Fat accumulates in the enterocytes.
Gastric hypertrophy w/ protein loss, parietal cell atrophy, & inc’d mucous cells.
Rugae of stomach look like brain gyri.
Menetrier’s Disease (precancerous)
rugae of stomach are so hypertrophied they look like brain gyri
Stomach cancer often presents w/ what skin condition?
Acanthosis nigricans
Stomach wall grossly looks thickened & leathery. Histology shows signet ring cells.
Diffuse Stomach Cancer
(not ass’d w/ H. pylori, in contrast to intestinal stomach cancer which commonly presents on lesser curvature)
- Gross appearance otherwise known as “Linitis Plastica”
Recurrent abdominal pain that improves w/ defecation and frequent diarrhea
Irritable bowel syndrome
Recurrent abdominal pain ass’d w/ at least 2 of following:
- pain improves w/ defecation
- change in stool frequency
- change in appearance of stool
Bilious vomiting in newborn w/ proximal stomach distention & “double bubble” appearance on X-ray
Duodenal atresia
failure of recanalization of small bowel. Ass’d w/ Down Syndrome
Multiple hamartomas throughout GI tract along w/ hyperpigmented mouth, lips, hands, & genitalia
Peutz-Jeghers Syndrome
- AD
- single polyps are not malignant
- ass’d w/ inc’d risk of CRC & other visceral malignancies
Multiple polyps in GI tract of child <5 yrs. w/ 80% of polyps located in rectum.
Juvenil Polyposis Syndrome
- inc’d risk of adenocarcinoma (CRC)
Pancolonic involvement of multiple (thousands) colonic polyps, osseous & soft tissue tumors, & congenital hypertrophy of retinal pigment epithelium
Gardner’s Syndrome
FAP (AD mutation of APC gene on chromosome 5q)
+
Osseous & soft tissue tumors, congenital hypertrophy of retinal pigment epithelium
FAP + Malignant CNS tumor
Turcot’s Syndrome
a) Inherited CRC; rectum always involved
b) Inherited CRC; proximal colon always involved
a) Familial Adenomatous Polyposis (FAP) – AD mutation of APC gene (tumor suppressor, 2-hit)
b) Hereditary Nonpolyposis Colorectal Cancer (HNPCC/Lynch Syndrome) – AD mutation of DNA mismatch repair genes; ~80% progress to CRC
Wheezing, right-sided heart murmur, diarrhea, flushing. “Dense core bodies” seen on EM.
Carcinoid tumor that has metastasized outside of GI system
liver metabolizes 5HT, so if confined to GI then no carcinoid symptoms
Newborn with absent UDP-glucuronyl transferase
Crigler-Najjar Syndrome
- Jaundice, kernicterus (bilirubin deposits in brain), inc’d unconjugated bilirubin
- Type 1: presents early in life, patients die w/in a few years
- Type 2: less severe, responds to Phenobarbitol, which inc’s liver enzyme synthesis
Mildly decreased UDP-glucuronyl transferase
Gilbert’s Syndrome (also caused by dec’d bilirubin uptake by liver cells)
- bilirubin inc’s w/ fasting & stress
Normocytic, Normochromic anemia – Intravascular or Extravascular?
↓ Haptoglobin
↑ LDH
Hemoglobin in urine
Intravascular hemolysis
PNH, mechanical destruction
Normocytic, Normochromic anemia – Intravascular or Extravascular Hemolysis?
↑ LDH
↑ UCB (jaundice)
Extravascular Hemolysis
Normocytic Anemia ↓ Iron ↓ TIBC ↑ Ferritin ↑ FEP
Anemia of chronic disease
can become microcytic, hypochromic
Hemolytic anemia in a newborn
Pyruvate Kinase deficiency
- AR
- ↓ ATP → rigid RBCs
Hemolytic anemia, pancytopenia, & venous thrombosis
Paroxysmal Nocturnal Hemoglobinuria (classic triad)
Labs: CD55/59-negative RBCs
Tx = Eculizumab
↓ Iron
↑ Transferrin (or TIBC, same thing)
↓ Ferritin
↓↓ Transferrin saturation (serum iron/TIBC)
Primary iron deficiency
look at Ferritin to diff. from anemia of chronic disease
↑ Iron
↓ TIBC
↑ Ferritin
↑↑ Transferrin saturation
Hemochromatosis
↑ Transferrin
↓ Transferrin saturation
Pregnancy or OCP use
primary = ↑ Transferrin
Painful abdomen, port-wine colored urine, polyneuropathy, psychological disturbances, precipitated by drugs
Acute Intermittent Porphyria (5 Ps)
- Defect = Porphobilinogen Deaminase
- Porphobilinogen, Δ-ALA, uroporphyrin (urine) buildup
Blistering cutaneous photosensitivity. Most common porphyria.
Porphyria cutanea tarda
Defect = Uroporphyrinogen Decarboxylase Uroporphyrin buildup (tea-colored urine)
Homovanillic Acid present in urine
Neuroblastoma
Homovanillic acid is a breakdown product of Dopamine
Child w/ kidney tumor, lack of irises, genitourinary malformation, & mental retardation
Wiedemann Syndrome or WAGR complex:
- Wilms tumor
- Aniridia
- Genitourinary malformation
- Mental retardation
Painless hematuria
Bladder cancer
Transitional Cell Carcinoma
Facies, cold (non-inflamed) staphylococcal abscesses, retained primary teeth, eczema
Hyper IgE Syndrome (Job’s Syndrome)
- Th1 cells fail to produce IFN-γ → inability of neutrophils to respond to chemotactic stimuli
Triad: Thrombocytopenic purpura, Infections, Eczema
Wiskott-Aldrich Syndrome
- X-linked, WAS gene → T-cells unable to reorganize actin skeleton
- Findings: ↑IgE, ↑IgA, ↓IgM, & Thrombocytopenia
UTI that shows Clue cells, or vaginal epithelial cells covered w/ bacteria under the microscope
Gardnerella vaginalis
- gray vaginal discharge, fishy smell
- ass’d w/ sexual activity, but NOT an STD
Class Triad: Headache, Fever, & Rash that starts at wrists & ankles, then spreads to trunk, palms, & soles
Rocky Mountain Spotted Fever
- Rickettsia rickettsii
- Obligate intracellular organisms that need CoA & NAD+
Breath sounds: ↓
Percussion: Dull
Fremitus: ↓
Tracheal Deviation: None
Pleural Effusion
Breath sounds: ↓
Percussion: Dull
Fremitus: ↓
Tracheal Deviation: Toward side of lesion
Atelectasis (bronchial obstruction)
Breath sounds: ↓
Percussion: Hyperresonant
Fremitus: ↓
Tracheal Deviation: Toward side of lesion
Spontaneous Pneumothorax
Breath sounds: ↓
Percussion: Hyperresonant
Fremitus: ↓
Tracheal Deviation: Away from side of lesion
Tension Pneumothorax
Breath sounds: Bronchial breath sounds; late inspiratory crackles
Percussion: Dull
Fremitus: ↑
Tracheal Deviation: None
Consolidation
lobar pneumonia, pulmonary edema
Pneumoconiosis w/ “ivory white” calcified pleural plaques
Asbestosis
affects lower lobes
Hilar mass arising from bronchus
- Cavitation
- Hypercalcemia
- Smoker
Squamous cell carcinoma
produces PTHrP
Retired shipworker w/ hemorrhagic pleural effusions & pleural thickening
Mesothelioma (w/ Hx of asbestosis)
Lung tumor w/ Psammoma bodies
Mesothelioma
