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102 Cards in this Set

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Abetalipoproteinemia
AR. Deficiency of apolipoprotein B–48 and B100. malabsorption due to defective chylomicron formation, absent plasma VLDL and LDL. Fat accumulates in the enterocytes.
Abetalipoproteinemia
AR. Deficiency of apolipoprotein B–48 and B100. malabsorption due to defective chylomicron formation, absent plasma VLDL and LDL. Fat accumulates in the enterocytes.
Alport syndrome
Mutation in type IV collagen ––thinning and splitting of glomerular basement membrane. Most commonly X–linked. Family history of: eye problems (e.g., retinopathy, lens dislocation), glomerulonephritis, and sensorineural deafness; “can’t see, can’t pee, can’t hear a buzzing bee.” “Basket–weave” appearance on EM.
Androgen insensitivity syndrome (46, XY)
Defect in androgen receptor resulting in normal appearing female; female external genitalia with scant sexual hair, rudimentary vagina; uterus and fallopian absent. Patients develop testes (often found in labia majora; surgically removed to prevent malignancy). Increased testosterone, estrogen, LH (vs. sex chromosome disorders).
Ataxia–Telangectiasia
AR. ATM gene def– DNA break repair. Cerebellar ataxia, telangiectasias (superficial blanching nests of distended capillaries), IgA def– increased risk of sinopulmonary infection (B and T cell disorder). Increased AFP, decreased IgA, IgG, IgE
Bartter syndrome
Reabsorptive defect in thick ascending loop of Henle. AR. Affects Na+/K+/2Cl– cotransporter. Results in hypokalemia and metabolic alkalosis with hypercalciuria.
Bernard–Soulier syndrome
genetic GP1b deficiency; platelet adhesion is impaired. Blood smear shows mild thrombocytopenia with enlarged platelets (immature platelets– Big Suckers). Defect in adhesion Large platelets. decreased GpIb–– defect in platelet adhesion. No agglutination on ristocetin cofactor assay.
Bloom syndrome
AR. Hypersensitivity to UV damage and chemotherapeutic agents
Boerhaave syndrome
Transmural, usually distal esophageal rupture with air in the mediastinum, crackling air bubbles. due to violent retching; surgical emergency.
Brenner tumor
(Surface epithelial tumor) Looks like bladder– like epithelium, usually benign. Solid tumor that is pale yellow–tan and appears encapsulated. “Coffee bean”nuclei on H&E stain.
Budd–Chiari syndrome
Thrombosis or compression of hepatic veins with centrilobular congestion and necrosis–– congestive liver disease (hepatomegaly, varices, abdominal pain, eventual liver failure). Absence of JVD. Associated with hypercoagulable states, polycythemia vera, postpartum state, HCC. May cause nutmeg liver (mottled appearance).
Buerger disease (thromboangiitis obliterans)
Medium Vessel Vasculitis. Heavy smokers, males < 40 years old. Necrotizing vasculitis of the digits. Intermittent claudication may lead to gangrene. Raynaud's phenom
Chagas disease
(T. cruzi infection)– can cause achalasia
Charcot–Marie–Tooth disease
AD. Also known as hereditary motor and sensory neuropathy (HMSN). Group of progressive hereditary nerve disorders related to the defective production of proteins involved in the structure and function of peripheral nerves or the myelin sheath. Associated with scoliosis and foot deformities (high or flat arches).
Chédiak–Higashi syndrome
AR. Defect in lysosomal trafficking regulator gene (LYST). Microtubule dysfunction in phagosome–lysosome fusion. Recurrent pyogenic infections by staphylococci and streptococci, partial albinism, peripheral neuropathy, progressive neurodegeneration, infiltrative lymphohistiocytosis. Giant granules in granulocytes and platelets. Pancytopenia. Mild coagulation defects.
Choriocarcinoma of the ovary
GCT. Rare; can develop during or after pregnancy in mother or baby. Malignancy of trophoblastic tissue (cytotrophoblasts, syncytiotrophoblasts); no chorionic villi present. Presents with increased β–hCG, shortness of breath, hemoptysis. Hematogenous spread to lungs b/c programmed to invade blood vessels. Very responsive to chemotherapy.
Churg– Strauss
Nephritic Syndreom– RPGN and Small Vessel Vasculitis. Asthma, sinusitis, skin nodules or purpura, peripheral neuropathy (e.g., wrist/foot drop). Granulomatous, necrotizing vasculitis with eosinophilia. MPO–ANCA/p–ANCA, increased IgE level. (different than microscopic polyangiitis– asthma, granulomas, and peripheral eosinophilia). RPGN. Negative IF. P–ANCA positive. Asthma, granulomatous infiltrate, eosinophilia.
COMMON VARIABLE IMMUNODEFICIENCY (CVID)
Low immunoglobulin due to B–cell or helper T–cell defects; Increased risk for bacteria], enterovirus, and Giardia lamblia infections, usually in late childhood. Increased risk for autoimmune disease and lymphoma. Can be acquired. Decreased plasma cells, immunoglobulins.
Cori disease (type III)
AR. Debranching enzyme (α–1,6–glucosidase) deficiency. Milder form of type I (Von Gierke) with normal blood lactate levels. Gluconeogenesis is intact
Craniopharyngioma
Benign childhood tumor, may be confused with pituitary adenoma (both can cause bitemporal hemianopia). Most common childhood supratentorial tumor. Derived from remnants of Rathke pouch. Calcification is common, (tooth enamel–like). Cystic, suprasellar lesion– buldges into the third ventricle. 3 components– solid tumor cells, systic machinery oil liquid, calcified component. causes growth retardation, hyperprolactinemia, visual defects, headaches
Crigler–Najjar syndrome, type I
Absent UDP–glucuronosyltransferase. Presents early in life; patients die within a few years. Findings: jaundice, kernicterus (bilirubin deposition in basal ganglia) increased unconjugated bilirubin.
Cystathionine beta synthase (CBS) deficiency
results in high homocysteine levels with homocystinuria,. CBS converts homocysteine to cystathionine; enzyme deficiency leads to homocysteine buildup. Sx: vessel thrombosis, mental retardation, lens dislocation, and long slender fingers.
Cystinuria
AR. Hereditary defect of renal PCT and intestinal amino acid transporter that prevents reabsorption of Cysteine, Ornithine, Lysine, and Arginine (COLA). Excess cystine in the urine can lead to recurrent precipitation of hexagonal cystine stones. Treatment: urinary alkalinization (e.g., potassium citrate, acetazolamide) and chelating agents (e.g., penicillamine), increased solubility of cystine stones; good hydration
Diffuse proliferative glomerulonephritis (DPGN)
Nephritic syndrome.– RPGN. Granular IF. SLE– ab complexes deposited subendothelially. LM—“wire looping” of capillaries. EM—subendothelial and sometimes intramembranous IgG–based ICs often with C3 deposition. Most common cause of death in SLE. DPGN and MPGN often present as nephrotic syndrome and nephritic syndrome concurrently.
Dubin–Johnson syndrome
Conjugated hyperbilirubinemia due to defective liver excretion into the bile ducts. Grossly black liver. Benign.
Dysgerminoma
Germ cell tumor. Most common malignant GCT in adolescents. Equivalent to male seminoma but rarer. Sheets of uniform, large cells– clear cytoplasm “fried egg” cells. hCG, LDH = tumor markers.
Embryonal carcinoma of the testes
Malignant, hemorrhagic mass with necrosis; painful; worse prognosis than seminoma. Often primitive glandular/papillary morphology. Early hematogenous spread. Most commonly mixed with other tumor types. May be associated with increased hCG and normal AFP levels when pure (increased AFP when mixed).
Ependymoma
Ependymal cell tumors most commonly found in 4th ventricle. Can cause hydrocephalus. Poor prognosis. Characteristic perivascular rosettes. Rodshaped blepharoplasts (basal ciliary bodies) found near nucleus.
Fabry disease
X–linked Recessive. Peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease. α–galactosidase A deficient. Ceramide trihexoside accumulates.
Familial dyslipidemia I—hyperchylomicronemia
AR. Chylomicrons, TG, cholesterol increased. Lipoprotein lipase deficiency or altered apolipoprotein C–II. Causes pancreatitis, hepatosplenomegaly, and eruptive/pruritic xanthomas (no increased risk for atherosclerosis). Creamy layer in supernatant.
Familial dyslipidemia IIa—familial hypercholesterolemia
AD. LDL, cholesterol accumulates. Absent or defective LDL receptors. Heterozygotes (1:500) have cholesterol ≈ 300 mg/dL; homozygotes (very rare) have cholesterol ≈ 700+ mg/dL. Causes accelerated atherosclerosis (may have MI before age 20), tendon (Achilles) xanthomas, and corneal arcus.
Fanconi syndrome
Reabsorptive defect in PCT. Associated with increased excretion of nearly all amino acids, glucose, HCO3 –, and PO43–. May result in metabolic acidosis (proximal renal tubular acidosis). Causes include hereditary defects (e.g., Wilson disease, tyrosinemia, glycogen storage disease), ischemia, multiple myeloma, nephrotoxins/drugs (e.g., expired tetracyclines, tenofovir), lead poisoning.
Focal segmental glomerulosclerosis
LM—segmental sclerosis and hyalinosis (pink, segmented). EM—effacement of foot process similar to minimal change disease. African Americans and Hispanics. HIV infection, sickle cell disease, heroin abuse, massive obesity, interferon treatment, chronic kidney disease. Inconsistent response to steroids. May progress to chronic renal disease.
Friedreich ataxia
AR trinucleotide repeat disorder (GAA) on chromosome 9. Codes for frataxin (iron binding protein). Leads to impairment in mitochondrial functioning. Degeneration of multiple spinal cord tracts– muscle weakness and loss of DTRs, vibratory sense, proprioception. Staggering gait, frequent falling, nystagmus, dysarthria, pes cavus, hammer toes, diabetes mellitus, hypertrophic cardiomyopathy (cause of death). Presents in childhood with kyphoscoliosis. Friedrich is Fratastic (frataxin)– always staggering, falling but has a SWEET, BIG heart.
Gardner syndrome
FAP + osteomas– arises in skull. congenital hypertrophy of retinal pigment epithelium, impacted/supernumerary teeth.
Gaucher disease
AR. Most common. Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of femur, bone crises, Gaucher cells (lipid–laden macrophages resembling crumpled TISSUE PAPER); treatment is recombinant glucocerebrosidase. Glucocerebrosidase (β–glucosidase) Deficiency. Glucocerebroside accumulates
Gilbert syndrome
Mildly decreased UDP–glucuronosyltransferase conjugation and impaired bilirubin uptake. Seen during fasting/ stress.

Gitelman syndrome

Reabsorptive defect of NaCl in DCT. AR. Less severe than Bartter syndrome. Leads to hypokalemia, hypomagnesemia, metabolic alkalosis, hypocalciuria.


FaB Glittering Liquids
Glanzmann thrombasthenia
Defect in aggregation GpIIb/IIIa deficiency–– defect in platelet–to–platelet aggregation. Labs: blood smear shows no platelet clumping. Agglutination with ristocetin cofactor assay.
Glioblastoma multiforme (grade IV astrocytoma)
Adult, highly malignant. Found in cerebral hemispheres. Can cross corpus callosum (“butterfly glioma”). Stain astrocytes for GFAP. Histology: “pseudopalisading” pleomorphic tumor cells—border central areas of necrosis and hemorrhage.
Goodpasture syndrome
RPGN. Rype 2 HSR; antibodies to Glomerular BM and LUNG basement membrane. Linear IF.
Granulomatosis with polyangiitis (Wegener)
Small Vessel Vasculitis. Nasopharynx, lungs, kidney (C disease– on a person). C–ANCA. perforation of nasalseptum, chronic sinusitis, otitis media, hemoptysis– bilateral nodular lung infiltrates, hematuria– RPGN, red cell casts. Triad: Focal necrotizing vasculitis, necrotizing granulomas in lung, necrotizing glomerularnephritis. C–ANCA, anti–proteinase 3.
Hartnup disease
AR. Deficiency of neutral amino acid (e.g., tryptophan) transporters in proximal renal tubular cells and on enterocytes–– neutral aminoaciduria and decreased absorption from the gut—decreased tryptophan for conversion to niacin–– pellagra–like symptoms. Treat with high–protein diet and nicotinic acid.
Henoch–Schönlein purpura
Small Vessel Vasculitis. Vasculitis due to IgA–complex deposition. Often follows URI (b/c make IgA). Classic triad: palpable purpura on buttocks/legs; Arthralgias; abdominal pain. Vasculitis 2° to IgA immune complex deposition. Associated with IgA nephropathy (Berger disease). Self–limited
Homocystinuria
Types (all autosomal recessive): Cystathionine synthase deficiency (treatment: decreased methionine, increased cysteine, increased B12 and folate in diet); Decreased affinity of cystathionine synthase for pyridoxal phosphate (treatment: increased B6 and increased cysteine in diet). Homocysteine methyltransferase (methionine synthase) deficiency (treatment: increased methionine in diet)
Hunter syndrome
XR. Mild Hurler + aggressive behavior, no corneal clouding. Iduronate sulfatase deficiency. Heparan sulfate, dermatan sulfate accumulate
Hurler syndrome
AR. Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly. α–l–iduronidase deficiency. Heparan sulfate, dermatan sulfate accumulates
Hyper–IgE syndrome (Job)
AD. Deficiency in Th17 cells due to STAT3 mutation– impaired recruitment of neutrophils to sites of infection. Coarse Facies, cold (noninflamed) staphylococcal Abscesses, retained primary Teeth, increased IgE, Dermatologic problems (eczema). Increased IgE, decreased IFN–γ.
Hyper–IgM syndrome
Most commonly due to defective CD40L on Th cells—can’t class switch. X–linked recessive. Severe pyogenic infections early in life; opportunistic infection with Pneumocystis, Cryptosporidium, CMV. Increased IgM. Decreased IgG, IgA, IgE
I–cell disease
(inclusion cell disease)—inherited lysosomal storage disorder; defect in N–acetylglucosaminyl–1–phosphotransferase –– failure of the Golgi to phosphorylate mannose residues (i.e., mannose–6–phosphate) on glycoproteins –proteins are secreted extracellularly rather than delivered to lysosomes. Results in coarse facial features, clouded corneas, restricted joint movement, and high plasma levels of lysosomal enzymes. Often fatal in childhood
IgA DEFICIENCY
Low serum and mucosal IgA; most common immunoglobulin deficiency, increased risk tor mucosal infection, especially viral. Most are asymptomatic. Associated with Celiac disease. Many have ab's against IgA.
IgA nephropathy (Berger disease)
Nephritic syndrome. RBC casts + hematuria following GE infection. LM—mesangial proliferation. EM—mesangial IC deposits. IF—IgA–based IC deposits in mesangium. Renal pathology of Henoch–Schönlein purpura. Episodic hematuria with RBC casts. Not to be confused with Buerger disease (thromboangiitis obliterans).
IMMUNE THROMBOCYTOPENIC PURPURA (ITP)
Autoimmune production of IgG against GPIIb/llla produced by plasma cells of spleen. Acute form in children weeks after a viral infection or immunization; self–limited. Chronic in adults, usually secondary to SLE. Decreased platelet count, normal PT/ PTT, increased megakaryocytes. Tx: corticosteroids, IVIG if severe, splenectomy. Anti–GpIIb/IIIa antibodies (IgG)–– splenic macrophage consumption of platelet‑antibody complex. Commonly due to viral illness. Labs: increased megakaryocytes on bone marrow biopsy. Treatment: steroids, intravenous immunoglobulin.
IV—hypertriglyceridemia
AD. VLDL, TG accumulates. Hepatic overproduction of VLDL. Hypertriglyceridemia (> 1000 mg/ dL) can cause acute pancreatitis.
Jervell and Lange–Nielsen syndrome
autosomal recessive, congenital long QT sensorineural deafness. Due to K+ channel defects.
Kallmann syndrome
Failure to complete puberty; a form of hypogonadotropic hypogonadism. Defective migration of GnRH cells and formation of olfactory bulb; decreased synthesis of GnRH in the hypothalamus; anosmia; decreased GnRH, FSH, LH, testosterone. Infertility.
Krabbe disease
AR lysosomal storage disease. Deficiency of galactocerebrosidase. Buildup of galactocerebroside and psychosine destroys myelin sheath. Findings: peripheral neuropathy, developmental delay, optic atrophy, globoid cells.
Liddle syndrome
AD. Gain of function mutation. Increased Na+ reabsorption in collecting tubules. Results in hypertension, hypokalemia, metabolic alkalosis, decreased aldosterone. Treatment: Amiloride.
McCune–Albright syndrome
due to mutation affecting G–protein signaling. Presents with unilateral cafe–au–lait spots, polyostotic fibrous dysplasia, precocious puberty, multiple endocrine abnormalities. Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism.
Medulloblastoma
Highly malignant cerebellar tumor. A form of primitive neuroectodermal tumor. Can compress 4th ventricle, causing hydrocephalus. Can send “drop metastases” to spinal cord. Homer–Wright rosettes. Solid (gross), small blue cells(histology).
Meigs syndrome
triad of ovarian fibroma, ascites, hydrothorax (pleural effusions). “Pulling” sensation in groin.
Membranoproliferative glomerulonephritis (MPGN)
Nephrotic and Nephritic Syndrome. Mesangial cell proliferation. Type I—subendothelial immune complex (IC) deposits with granular IF; “tram–track” appearance on PAS stain and H&E stain due to GBM splitting caused by mesangial ingrowth. Associated with HBV and HCV. Type II—basement IC deposits; “dense deposit” type 2= C3 nephritic factor (stabilizes C3 convertase––– decreased serum C3 levels and over activation of complement).
Membranous nephropathy
Nephrotic LM—diffuse capillary and GBM thickening. IF—granular as a result of immune complex deposition. Nephrotic presentation of SLE. EM—“spike and dome” appearance with SUBEPITHELIAL deposits. Caucasian adults, hep B/C, SLE, drugs. THICK glomerular BM due to immune complex deposition. Spike and dome.
Meningioma
Adult, typically benign. Near surfaces of brain) and parasagittal region. Arises from arachnoid cells, is extra–axial (external to brain parenchyma), and may have a dural attachment (“tail”). Often asymptomatic; may present with seizures or focal neurologic signs. Histology: spindle cells concentrically arranged in a whorled pattern; psammoma bodies (laminated calcifications).
Menkes disease
X–linked recessive connective tissue disease caused by impaired copper absorption and transport due to defective Menkes protein (ATP7A). Leads to activity of lysyl oxidase (copper is a necessary cofactor). Results in brittle, “kinky” hair, growth retardation, and hypotonia.
Metachromatic leukodystrophy
AR. Central and peripheral demyelination with ataxia, dementia. Arylsulfatase A Deficiency. Cerebroside sulfate accumulates
Microscopic polyangiitis
Nephritic Syndrome– RPGN and Small Vessel Vasculitis. Necrotizing vasculitis commonly involving lung, kidneys, and skin with pauci–immune glomerulonephritis and palpable purpura. No granulomas or nasalpharyngeal involvement (like Wegener's). RPGN. Negative IF. P–ANC positive. MPO–ANCA/P–ANCA H (antimyeloperoxidase)
Mucinous cystadenocarcinoma
Surface epithelial tumor. Pseudomyxoma peritonei–intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor. Shaggy lining.
N–acetylglutamate synthase deficiency
Required cofactor for carbamoyl phosphate synthetase I. Absence of N–acetylglutamate = hyperammonemia. Presents in neonates as poorly regulated respiration and body temperature, poor feeding, developmental delay, intellectual disability (identical to presentation of carbamoyl phosphate synthetase I deficiency).
Neuroblastoma
Most common tumor of the adrenal medulla in children, usually < 4 years old. Originates from neural crest cells; Homer–Wright rosettes characteristic. Homovanillic acid (HVA; a breakdown product of dopamine). Bombesin and neuron enolase positive. N–myc oncogene. Brown tumor.
Niemann–Pick disease
AR. Progressive neurodegeneration, hepatosplenomegaly, foam cells (lipid–laden macrophages), “cherry–red” spot on macula. Sphingomyelinase deficiency. Sphingomyelin accumulates.
Oligodendroglioma
Relatively rare, slow growing. Most often in frontal lobes.“Chicken–wire” capillary pattern. Histology: oligodendrocytes = “fried egg” cells. Often calcified in oligodendroglioma.
Ornithine transcarbamylase deficiency
Most common urea cycle disorder. X–linked recessive (vs. other urea cycle enzyme deficiencies, which are autosomal recessive). Interferes with the body’s ability to eliminate ammonia. Often evident in the first few days of life, but may present later. Excess carbamoyl phosphate is converted to orotic acid (part of the pyrimidine synthesis pathway). Findings: increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia. No megaloblastic anemia (vs. orotic aciduria).
Orotic aciduria
AR Inability to convert orotic acid to UMP (de novo pyrimidine synthesis pathway) because of defect in UMP synthase. Sx: failure to thrive, developmental delay, and megaloblastic anemia refractory to folate and B12. No hyperammonemia.
Papillary carcinoma of the thyroid
Most common, excellent prognosis. Empty–appearing nuclei with central clearing (“Orphan Annie” eyes), psammoma bodies, nuclear grooves. Lymphatic invasion common. RET and BRAF mutations, Ionizing radiation as a child/ to the neck.
Osler–Rendu–Weber syndrome (Hereditary hemorrhagic telangiectasia)
AD. Multiple telangiectasias of the skin/ mucosa. Recurrent epistaxis/ GI bleeds
Peutz–Jeghers syndrome
AD featuring numerous hamartomas throughout GI tract, along with hyperpigmented (freckled) mouth, lips, hands, genitalia. Associated with risk of colorectal, breast, stomach, small bowel, and pancreatic cancers.
Pilocytic (low–grade) astrocytoma
Usually well circumscribed, benign. In children, most often found in posterior fossa A (e.g., cerebellum). May be supratentorial. GFAP+. Rosenthal fibers—eosinophilic, corkscrew fibers. Cystic + solid.
Polyarteritis nodosa
Medium vessel vasculitis. Necrotizing vasculitis affecting multiple organs, spares lungs. Associated with Hepatitis B. Fever, weight loss, malaise, headache. abdominal pain, melena. Hypertension, neurologic dysfunction, cutaneous eruptions, renal damage. Immune complex– transmural inflammation of arterial wall w/ fibrinoid necrosis (pink). healing results in fibrosis– string of pearls–like aneurysm formation (rosary)
Polymyalgia rheumatic
Pain and stiffness in shoulders and hips, often with fever, malaise, weight loss. Does not cause muscular weakness. Associated with temporal (giant cell) arteritis. Increased ESR, increased CRP, normal CK. Tx: steroids
Pompe disease (type II)
AR. Lysosomal alpha 1,4 glucosidase (acid maltase) deficiency. Cardiomegaly, hypertrophic cardiomyopathy, exercise intolerance, and systemic findings leading to early death. Pompe trashes the Pump (heart, liver, and muscle)
Porphyria cutanea tarda
Uroporphyrinogen decarboxylase def. Uroporphyrin (teacolored urine) Blistering cutaneous photosensitivity. Most common porphyria
Primary biliary cirrhosis
Autoimmune reaction––lymphocytic infiltrate + granuloma—destruction of intralobular bile ducts. Classically in middle–aged women. Anti–mitochondrial antibody+, including IgM. autoimmune conditions
Primary sclerosing cholangitis
Unknown cause of concentric “onion skin” bile duct fibrosis alternating strictures and dilation with “beading” of intra– and extrahepatic bile ducts. young men with UC. Hypergammaglobulinemia (IgM). p– ANCA+ (MPO–ANCA). Associated with ulcerative colitis. Cholangiocarcinoma.
Rett syndrome
X–linked disorder seen almost exclusively in girls (affected males die in utero or shortly after birth). Symptoms usually become apparent around ages 1–4, including regression characterized by loss of development, loss of verbal abilities, intellectual disability, ataxia, stereotyped hand–wringing.
Rotor syndrome
is similar but even milder than Dubin–Johnson and does not cause black liver.
Serous cystadenocarcinoma
Surface epithelial tumor. Most common ovarian neoplasm, frequently bilateral. Psammoma bodies. Post–menopausal. Associated with BRCA1 mutations
Severe combined immunodeficiency (SCID)
Several types: defective IL–2R gamma chain (most common, X–linked), Adenosine deaminase deficiency (autosomal recessive), MHC class 2 deficiency. Failure to thrive, chronic diarrhea, thrush. Recurrent viral, bacterial, fungal, and protozoal infections. Treatment: bone marrow. Absence of thymic shadow (CXR), germinal centers (lymph node biopsy), and T cells (flow cytometry
Sturge–Weber syndrome
Congenital, non–inherited (somatic), developmental anomaly of neural crest derivatives (mesoderm/ectoderm) due to activating mutation of GNAQ gene. Affects small (capillary–sized) blood vessels. Port–wine stain of the face “birthmark” in CN V1/V2 distribution); ipsilateral leptomeningeal capillary–venous malformation–– seizures/epilepsy; intellectual disability; and episcleral hemangioma– increased IOP–– early–onset glaucoma. STURGE–Weber: Sporadic, port–wine Stain; Tram track calcifications (opposing gyri); Unilateral; Retardation (intellectual disability); Glaucoma; GNAQ gene; Epilepsy.
Subacute thyroiditis (de Quervain)
Self–limited following a flu–like illness. Histology: granulomatous inflammation. Findings: increased ESR, jaw pain, early inflammation, very tender thyroid. Young female, tender thyroid.
Subacute thyroiditis (de Quervain)
Self–limited following a flu–like illness. Histology: granulomatous inflammation. Findings: increased ESR, jaw pain, early inflammation, very tender thyroid. Young female, tender thyroid.
Tay–Sachs disease
AR. Progressive neurodegeneration, developmental delay, “cherry–red” spot on macula, lysosomes with onion skin, no hepatosplenomegaly (vs. Niemann–Pick). Hexosaminidase A Deficient. GM2 ganglioside accumulates.
Temporal (giant cell) arteritis
Large Vessel Vasculitis. Unilateral headache (temporal artery), jaw claudication. Flu–like symptoms (polymyalgia rheymatica). Affects branches of the carotid artery. May lead to irreversible blindness. Focal/segmental granulomatous inflammation with intimal expansion/ fibrosis. Increased ESR. Tx: corticosteroids
Thrombotic thrombocytopenic purpura
Deficiency of ADAMTS 13 (vWF metalloprotease) Which cleaves vWF multimers. Pathogenesis: large vWF multimers— increased platelet adhesion—increased platelet aggregation and thrombosis. Labs: schistocytes, increased LDH, normal bleeding time. Symptoms: pentad of neurologic, fever, thrombocytopenia, and microangiopathic hemolytic anemia. Treatment: plasmapheresis, steroids.
Tuberous sclerosis
AD. Bilateral angiomyolipoma (benign tumor of blood vessels, smooth muscle and fat.), cortical tubers, subendymal hamartomas in brain– seizurs/ mental retardation, cardiac rhabdomyomas, facial angiofibromas, leaf–shaped patches of skin lacking pigmentation. HAMARTOMAS: Hamartomas in CNS and skin; Angiofibromas; Mitral regurgitation; Ash–leaf spots; cardiac Rhabdomyoma; (Tuberous sclerosis); autosomal dOminant; Mental retardation (intellectual disability); renal Angiomyolipoma; Seizures, Shagreen patches. increased incidence of subependymal astrocytomas and ungual fibromas.
Turcot syndrome
FAP + malignant CNS tumor (medulloblastoma, glial tumors). Turcot = Turban.
Von Gierke disease (type I)
AR. Glucose–6 –phosphatase deficiency. Severe fasting hypoglycemia, way increased glycogen in liver, increased blood lactate, increased triglycerides, increased uric acid, and hepatomegaly. Treatment: frequent oral glucose/cornstarch; avoidance of fructose and galactose
Von Hippel– Lindua Disease
AD. Cerebellar hemangioblastomas, rentinal hemangiomas, liver cysts, bilateral renal cell carcinomas. Hemangioblastomas (high vascularity with hyperchromatic nuclei) in retina, brain stem, cerebellum, spine; angiomatosis (e.g., cavernous hemangiomas in skin, mucosa, organs); bilateral renal cell carcinomas; pheochromocytomas.
Wegner Granulomatosis with polyangiitis RPGN.
Nephritic syndrome– RPGN. Negative IF, c–ANCA positive. Nasal symptoms– sinusitis. Lung involvment.
Williams syndrome
Congenital microdeletion of long arm of chromosome 7 (deleted region includes elastin gene). Findings: distinctive “elfin” facies, intellectual disability, hypercalcemia ( sensitivity to vitamin D), well–developed verbal skills, extreme friendliness with strangers, cardiovascular problems.
WISKOTT–ALDRICH SYNDROME
X–linked. Characterized by (WATER)– thrombocytopenia, eczema, and recurrent infections {defective humoral and cellular immunity); due to mutation in the WASP gene. B (pyogenic organisms– n. meningitidis, h. flu, s. pneumoniae) and T (PCP, herpesviridae) lymphocyte disorder. Tx: bone marrow transplant.
X–UNKED (Bruton) AGAMMAGLOBULINEMIA
X–linked . Lack of immunoglobulin – naive B cells cannot mature to plasma cells. Due to mutated Bruton tyrosine kinase (BTK); after 6 months of life with recurrent bacterial, enterovirus (e.g., polio and coxsackievirus), and Giardia lamblia infections (no IgA= mucosal infection with enterovirus, giardia). Will have normal CD19+ B cell count though.