Classic Presentations Flashcards by Mappy Castro

gout, intellectual disability, self mutilating behavior in a boy, orange sand like crystals.

increased de novo purine synthase, increased PrPP.

TX: allopurinol

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

How well did you know this?

Not at all

Perfectly

situs inversus, chronic sinusitis, bronchiectasis, infertility
(dyne arm defect affecting cilia)

Kartagner Syndrome

How well did you know this?

Not at all

Perfectly

Blue Sclera (type 1 collagen defect)

decreased formation hydrogen and disulfide. cannot for 3 helix (prepro).

Tx: decrease risk for fracture = biphosonate
(MOA: decreases reabsorption of bone by inhibiting osteoclasts; ADR: hypocalcemia, aseptic osteonecrosis of the jaw (prevent with excess water); Contraindicated: hypoCA, renal failure, pregnancy)

Osteogenesis imperfecta

How well did you know this?

Not at all

Perfectly

Elastic skin, hyper mobility of joints, increases bleeding tendency

(type V collagen defect, Type III collagen defect seen in vascular subtype of ED)

crosslinking lysine hydrolysine

Ehlers Danlos syndrome

How well did you know this?

Not at all

Perfectly

Arachnodactyly, lens dislocation (upward)aortic dissection, hyperflexible joints

Chromosome 15 (fibrillar defect)

Marfan syndrome

How well did you know this?

Not at all

Perfectly

Cafe-au-Lait (unilateral), polyostotic fibrous dysplasia, endocrine abnormalites (precocious puberty)

(mosaic Gs-protein signaling mutation)

McCune-Albright syndrome

How well did you know this?

Not at all

Perfectly

Calf pseudohypertrophy, Child uses arms to stand up from squat

x linked recessive frameshift mutation of the dystrophin gene

CCOD: dilated cardiomyopathy (S3)

Duchenne muscular dystrophy

How well did you know this?

Not at all

Perfectly

ABCCCD

alcohol, Beri beri, coxsacci, chagas, cocain, doxirubicin

Dilated Cardiomyopathy causes

How well did you know this?

Not at all

Perfectly

Slow, Progressive muscle weakness in the boys

(X-linked missense mutation in dystrophin; less severe than Duchenne)

Becker muscular dystrophy

How well did you know this?

Not at all

Perfectly

Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia

Patua syndrome (tri 13)

How well did you know this?

Not at all

Perfectly

Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect

Edwards syndrome (tri 18)

How well did you know this?

Not at all

Perfectly

Single palmar crease

Down syndrome

How well did you know this?

Not at all

Perfectly

Dilated cardiomyopathy, edema, alcoholism or malnutrition

thiamine [B1] deficiency

Wet Beriberi

How well did you know this?

Not at all

Perfectly

Dermatitis, dementia, diarrhea

Pellagra (niacin [B3] deficiency)

How well did you know this?

Not at all

Perfectly

Swollen gums, mucosal bleeding, poor wound healing, petechiae

Cant hydroxylate proline/lysine for collage synthesis

Scurvy (vit C deficiency)

How well did you know this?

Not at all

Perfectly

Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria, low lactate levels

(skeletal muscle glycogen phosphorylase deficiency)

McArdle disease

How well did you know this?

Not at all

Perfectly

Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphate deficiency, more severe)

Infant with hypoglycemia, hepatomegaly

How well did you know this?

Not at all

Perfectly

myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance

(lysosomal alpha-1,4 glucosidase deficiency)

Pompe disease

How well did you know this?

Not at all

Perfectly

Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion

“cherry-red spots” on macula

How well did you know this?

Not at all

Perfectly

Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femoral head bone crises

(glucocerebrosidase deficiency)

Gaucher disease

How well did you know this?

Not at all

Perfectly

Achilles tendon xanthoma

decreased LDL receptor signaling

familial hypercholesterolemia

How well did you know this?

Not at all

Perfectly

Anaphylaxis flowing blood transfussion

gice IgA deficiency blood or wash blood products to remove IgA

IgA deficiency

How well did you know this?

Not at all

Perfectly

Male child, recurrent infections, no mature B cells
B!!
Boy
BTK defect
Babies 3-6 months (after 6 months cant use mom IgG)
Bacterial infections
difficulty to express B cells (mature)

Bruton disease (x-linked agannaglobunemia)

How well did you know this?

Not at all

Perfectly

Recurrent cold, (noninflamed) abscesses, unusual eczema, high serum IgE

AD STAT 3 mutation –> Th17 decreased –> decreased neutrophil and macrophage chemotaxis.

eosinophilia, decreased INF gamma,

Hyper IgE syndrome (Job syndrome)

How well did you know this?

Not at all

Perfectly

"strawberry tongue"

scarlet fever | Kawasaki disease

Adrenal hemorrhage (insufficiency), hypotension, DIC, fever decreased Na, increased K, decreased BP.

Waterhouse- Friderichsen syndrome (meningiococcemia)

Red "current jelly" sputum in alcoholic or diabetic patients. Aspiration pneumonia Abscess in lungs and liver connection: can also cause stag horn calculi

Klebsiella pneumoniae pneumonia

Erythema chronic migraines from from Ixoddes tick bite (Large rash with bulls eye appearance) tx: doxycycline or penicillin-type antibiotics (eg, ceftriaxone). amoxicillin (pregnant <8yo) Stage 2—early disseminated: secondary lesions, carditis, AV block, facial nerve (Bell) palsy, migratory myalgias/transient arthritis. Stage 3—late disseminated: encephalopathy, chronic arthritis, peripheral neuropathy.

Lyme disease: Borrellia

Nonpainful: chancre (primary siphilis, Treponema Pallidum) Painfull: with exudate: chancroiD (haemophilus Ducreyi)

indurated ulcerated genital lesion

Confusion, ophthalmoplegia/nystagmus, ataxia Thiamine deficiency = cant breakdown glucose decreased cerebella's glucose breakdown- messed up mitochondria. No mito, decreased ATP increased free radicals. Destruction of cells. decreased neurotransmitters, BBB, myelin sheets. TX: 1. thiamine, 2. glucose. no glucose induces hypoglycemia

Wernicke encephalopathy

excess: pseudotumor cerebriae. (increased CSF production). dry skin, hepatosplenomegaly.

Vitamin A

Bowlegs in children, bone pain, and muscle weakness characterized by excessive unmineralized osteoid matrix at the epiphyseal cartilage.

Rickets (children), osteomalacia (adults); vitamin D | deficiency

Hemorrhagic disease of newborn with increased PT, PTT

Vitamin K deficiency

Bluish-black connective tissue, ear cartilage, sclerae; urine turns black on prolonged exposure to air (homogentisate oxidase deficiency; ochronosis) AR inhibited metabolism of tyrosine --> fumerate, leading to an accumulation of homogentisic acid

Alkaptonuria

recurrent neisseria infection

terminal compliment deficiencies (c5-C9)

``` Late separation (>30 days) of umbilical cord, no pus, recurrent skin and mucosal bacterial infections ```

Leukocyte adhesion deficiency (type 1; defective LFA-1 | integrin)

Recurrent infections and granulomas with catalase ⊕ | organisms

Chronic granulomatous disease (defect of NAPDH | oxidase)

Fever, vomiting, diarrhea, desquamating rash following | use of nasal pack or tampon

Staphylococcal toxic shock syndrome

Colon cancer diagnosed a few years after endocarditis preventative penicilline

Streptococcus bovis

Abdominal pain, diarrhea, leukocytosis, recent antibiotic use, toxic megacolon pseudomembranous colitis (neutrophil-predominant inflammatory infiltrate, fibrin, bacteria, and necrotic epithelium) Tx: metronidizole, oral Vanc, FIDAXOMICIN

C diff

Flaccid paralysis in newborn after ingestion of honey tx: human botulism immunoglobulin

Clostridium botulinum infection (floppy baby syndrome)

Tonsillar pseudomembrane with “bull’s neck” appearance

Corynebacterium diphtheria infection

Back pain, fever, night sweats

Pott disease (vertebral TB)

Pupil accommodates but doesn’t react to light

Neurosyphilis (Argyll Robertson pupil)

Smooth, moist, painless, wart-like white lesions on | genitals

Condylomata lata (2° syphilis)

Fever, chills, headache, myalgia following antibiotic treatment for syphilis

Jarisch-Herxheimer reaction (due to host response to | sudden release of bacterial antigens)

Dog or cat bite resulting in infection (cellulitis, osteomyelitis)

Pasteurella Multocida (cellulitis at inoculation site)

Atypical "walking pneumonia" with x-ray looking worse than the patient

Mycoplasma pneumonia infection

TRiCKSSSS ``` T-toxic shock R-rocky Montain spotted fever C- Coxsackie A K- Kawassaki S- scalded skin S- syohillis S- scarlet fever S- Steven johnson ```

Rash on palms and soles

Black eschar on face of patient with diabetic ketoacidosis and/or neutropenia

Mucor or Rhizopus fungal infection

Choriorentinitis, hydrocephalus, intracranial calcifications

congenital toxoplasmosis

Pruritus, serpiginous rash after walking barefoot

Hookworm (anchilostoma spp, Necator Americanus)

Child with fever later develops red rash on the face that spreads to body

Erythema infectious/ fifth disease ("slapped cheeks" appearance caused by Parvo B19)

Fever, cough, conjunctivitis, coryza (stuffy nose), diffuse rash

Measles

Small, irregular red spots on the buccal/lingual mucosa with blue-white centers

Kopek spots (measles [rubeola] virus)

Bounding pulses, wide pulse pressure, diastolic heart murmur, head bobbing eccentric hypertrophy (length of muscle fibers), increased end diastolic S3. systolic disfunction

Aortic regurgitation

Systolic ejection murmur (crescendo-decresenco), narrow pulse pressure, pulses parvus et tardus, syncope, older age (unless bicuspid), ejection clic louder right- root louder left- valve can look like MI

Aortic stenosis

Continuous "machine-like" heart murmur

PDA (close with indomethacin; keep open with PGE analogs)

Chest pain on exertion

Angina (stable: with moderate exertion; unstable: with minimal exertion or at rest)

Chest pain, pericardial effusion/friction rub, persistent fever following MI (autoimmune-mediated post-MI fibrinous pericarditis, 2 weeks to several months after acute episode)

Dressler syndrome

Beck triad: Distant heart sounds, distended neck veins, hypotension intraventricular septum bulges towards left--> decreases diastole which decreases SV --> decrease CO end diastolic pressure in all 4 chambers is equal electrical alternance

Cardiac tamponade

Painful, raised red sessions on pads of fingers/ toes

Osler nodes (infective endocarditis, immune complex deposition)

Painless erythematous lesions on palm and soles

Janeway lesions (infective endocarditis, septic emboli/ microabscesses)

Splinter hemorrhage in fingernails

Bacterial endocarditis

Retinal hemorrhages with pale centers

Roth spots (bacterial endocarditis)

Telangiectasias, recurrent epistaxis, skin discoloration, arteriovenous malformations, GI bleeding, hematuria

Hereditary hemorrhagic telangiectasia ( Osler-Weber- Rendu syndrome)

No lactation postpartum, absent menstruation, cold intolerance

Sheehan syndrome (postpartum hemorrhage leading to pituitary infarction)

Heat intolerance, weight loss, palpitations

HYPERthyroidism

Cold intolerance, weight gain, brittle hair

HYPOthyroidism

Cutaneous/ dermal edema due to deposition of mucopolysaccharides in connective tissue

Myxedema (caused by hypothyroidism, Graves disease [pretibial])

Facial muscle spasm upon tapping

chvosteck sign (hypocalcemia)

Carpal spasm upon inflation of BP cuff

Trousseau sign (hypocalcemia)

Deep, labored breathing/ hyperventilation

Diabetic keto acidosis (Kussmaul respirations)

Skin hyperpigmentation, orthostatic hypotension, fatigue, weakness, muscle aches, weight loss, GI disturbances

Chronic 1* adrenal insufficiency (Addison disease) --> incensed ACTH, increased alpha-MSH

Shocked, altered mental status, vomiting, abdominal pain, weakness, fatigue

Acute adrenal insufficiency (adrenal crisis)

Pancreatic, Pituitary, Parathyroid tumors

MEN1 (autosomal dominant MEN1 mutation)

Thyroid tumors, pheochromocytoma, ganglioneuromatosis, Marfanoid habitus

MEN2B (autosomal dominant RET mutation)

Thyroid and parathyroid tumors, pheochromocytoma

MEN2A (autosomal dominant RET mutation)

Cutaneous flushing, diarrhea, bronchospasm, heart murmur

Carcinoid syndrome (increased 5-HIAA)

Jaundice, palpable distended non-tender gallbladder

Courvoisier sign (distal malignant obstruction of biliary tree)

vomiting blood following gastroesophageal lacerations

Mallory-Weiss syndrome (alcohol use disorder, bulimia nervosa)

Dysphagia (esophageal webs), glossitis, iron deficiency, anemia

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma)

Enlarged, hard left supraclavicular node

Virchow node (abdominal metastasis)

Hematemesis, melena

Upper GI bleeding (eg, peptic ulcer disease)

Hematochezia

Lower GI bleeding (eg, colonic diverticulosis)

Arthralgias, adenopathy cardiac and neurological symptoms, malabsorption diarrhea (key + mixed systemic) gram positive intracellular bacteria. Tx: ceftriaxone 2 weeks. TMPSMX 1yr (maintenance) ddx: tropical spru (same but tropical travel) tx: tetracycline + folic acid

Whipple disease (tropheryma whepplei)

Severe RLQ pain with palpation of LLQ

Rovsing sign (acute appendicitis)

Severe RLQ pain with deep tenderness

McBurney sign (acute appendicitis)

Hamartomatous GI polyps, hyper pigmented macules on mouth, feet, hands, genitalia

Peutz-Jeghers syndrome (inherited, benign polyposis can cause bowel obstruction; increased cancer risk, mainly GI)

Multiple colon polyps, osteomas/ soft tissue tumors, impacted/ supernumerary teeth

Gardner syndrome (subtype of FAP)

CN1: UDPGT deficiency, unconjugated. tx: phototherapy (converts the unconjugated to water soluble for excretion), plasmapheresis. Curative= liver transplant. Complication: Kernectarus CN2: UDPGT (low amount) no symptoms, mild elevated unconjugated. TX: phenobarbital (increases UDPGT)

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Kayser-Fleischer rings due to copper accumulation: Golden brown rings around peripheral cornea AR mutation in ATP7B chromosome 13 hepatic failure, cirrhosis, psychiatric symptoms, Parkinsonism, gait disturbance. Tx: Chelators

Wilson disease

Female, fat, fertile, forty

Cholelithiasis (gallstones)

Painless jaundice with enlarged gallbladder

Cancer of the pancreatic head obstructing bile duct

Bluish line on gingiva

Burton line (lead poisoning)

Pancytopenia (bone marrow destruction). genetic loss of DNA cross link repair Short stature, cafe-au-lait, thumb/radial defects, increased incidence of tumors/ leukemia, aplastic anemia. Progresses to AML Tx: GM- CSF (bone marrow stimulant)

Fanconi anemia

Red/ pink urine, fragile RBCs anchor protein problem GPI defect: PIGA gene compliment; intra and extra vascular hemolysis recurrent venous thrombosis, pancytopenia CD55/59 complications: MI, Budd Ciarri

Paroxysmal nocturnal hemoglobinuria

Painful blue fingers/ toes, hemolytic anemia

Cold agglutinin disease (autoimmune hemolytic anemia caused by mycoplasma pneumoniae, infectious mononucleosis, CLL)

Petechiae, mucosal bleeding, prolonged bleeding time

Platelet disorders (eg, Glanzmann thrombasthenia, Bernard Soulier, HUS, TTP, ITP)

Skin patches/plaques, Pautrier microabscesses, atypical T cells

Mycosis fungoides (cutaneous T-cell lymphoma) or Sézary syndrome (mycosis fungoides + malignant T cells in blood)

Neonate with arm paralysis following difficult birth, arm | in “waiter’s tip” position

Erb-Duchenne palsy (superior trunk [C5–C6] brachial | plexus injury)

Anterior drawer sign ⊕

Anterior cruciate ligament injury

Bone pain, bone enlargement, arthritis

``` Osteitis deformans (Paget disease of bone, osteoblastic and osteoclastic activity) ```

Swollen, hard, painful finger joints in an elderly | individual, pain worse with activity

Osteoarthritis (osteophytes on PIP [Bouchard nodes], DIP | [Heberden nodes])

Sudden swollen/painful big toe joint, tophi

Gout/podagra (hyperuricemia

Dry eyes, dry mouth, arthritis (autoimmune destruction of exocrine glands)

Sjögren syndrome

Urethritis, conjunctivitis, arthritis in a male

Reactive arthritis associated with HLA-B27

“Butterfly” facial rash, arthritis, cytopenia, and fever in a young female, HLA-DR3 Antinuclear antibodies (ANAs: anti-Smith and anti-dsDNA) Antihistone antibodies= Drug induced SLE HIPP (hydralazine, isoniazid, procanamide, phenytoin)

Systemic lupus erythematosus

Cervical lymphadenopathy, desquamating rash, coronary aneurysms, red conjunctivae and tongue, hand-foot changes

Kawasaki disease (mucocutaneous lymph node syndrome, treat with IVIG and aspirin)

Palpable purpura on buttocks/legs, joint pain, abdominal pain (child), hematuria. Nephritic

Immunoglobulin A vasculitis (Henoch-Schönlein | purpura)

Painful fingers/toes changing color from white to blue to red with cold or stress Tx: CCB 2nd SSRI

Raynaud phenomenon (vasospasm in extremities)

Dark purple skin/mouth nodules in a patient with AIDS | , associated with HHV-8

Kaposi sarcoma

Pruritic, purple, polygonal planar papules and plaques | 6 P’s

Lichen planus

Ataxia, nystagmus, vertigo, dysarthria

``` Cerebellar lesion (lateral affects voluntary movement of extremities; medial affects axial and proximal movement) ```

Dorsiflexion of large toe with fanning of other toes upon | plantar scrape

Babinski sign (UMN lesion)

Hyperphagia, hypersexuality, hyperorality, amnesia, placidity

Klüver-Bucy syndrome (bilateral amygdala lesion)

Resting tremor, athetosis, chorea

Basal ganglia lesion

Lucid interval after traumatic brain injury

``` Epidural hematoma (middle meningeal artery rupture; branch of maxillary artery) ```

“Worst headache of my life”

Subarachnoid hemorrhage

Dysphagia, hoarseness, decreased gag reflex, nystagmus, ipsilateral, Horner syndrome

Lateral medullary syndrome (posterior inferior cerebellar | artery lesion)

Resting tremor, rigidity, akinesia, postural instability, | shuffling gait, micrographia

``` Parkinson disease (loss of dopaminergic neurons in substantia nigra pars compacta) ```

Chorea, dementia, caudate degeneration

``` Huntington disease (autosomal dominant CAG repeat expansion) ```

Urinary incontinence, gait apraxia, cognitive dysfunction

Normal pressure hydrocephalus

Nystagmus, intention tremor, scanning speech, bilateral | internuclear ophthalmoplegia

Multiple sclerosis

Rapidly progressive limb weakness that ascends following, GI/upper respiratory infection

Guillain-Barré syndrome (acute inflammatory | demyelinating polyneuropathy)

Café-au-lait spots, Lisch nodules (iris hamartoma), cutaneous neurofibromas, pheochromocytomas, optic gliomas

Neurofibromatosis type I `

Vascular birthmark (port-wine stain) of the face

Nevus flammeus | benign, but associated with Sturge- Weber syndrome GNAQ gene; ipsilateral leptomeningeal angioma with calcifications

Renal cell carcinoma (bilateral), hemangioblastomas, | angiomatosis, pheochromocytoma

von Hippel-Lindau disease (deletion of VHL gene on | chromosome 3p)

Bilateral vestibular schwannomas

Neurofibromatosis type 2

Hyperreflexia, hypertonia, Babinski sign present

UMN damage

Hyporeflexia, hypotonia, atrophy, fasciculations

LMN damage

Flaccid limb weakness, fasciculations, atrophy, bulbar palsy

UMN and LMN deficits

Staggering gait, frequent falls, nystagmus, hammer toes, | diabetes mellitus, hypertrophic cardiomyopathy

Friedreich ataxia

Unilateral facial drooping involving forehead

LMN facial nerve (CN VII) palsy; UMN lesions spare the | forehead

Episodic vertigo, tinnitus, sensorineural hearing loss

Ménière disease

Ptosis, miosis, anhidrosis

Horner syndrome (sympathetic chain lesion)

Conjugate horizontal gaze palsy, horizontal diplopia

``` Internuclear ophthalmoplegia (damage to MLF; may be unilateral or bilateral) ```

“Waxing and waning” level of consciousness (acute | onset), decreased attention span, decreased level of arousal

Delirium (usually 2° to other cause)

Polyuria, renal tubular acidosis type II, growth retardation, electrolyte imbalances, hypophosphatemic rickets

Fanconi syndrome (multiple combined dysfunction of the proximal convoluted tubule)

Periorbital and/or peripheral edema, proteinuria (> 3.5g/ | day), hypoalbuminemia, hypercholesterolemia

Nephrotic syndrome

Hereditary nephritis, sensorineural hearing loss, retinopathy, lens dislocation BM damage cant see, cant hear, cant pee

Alport syndrome (mutation in type IV collagen)

Wilms tumor, macroglossia, organomegaly, hemihyperplasia (one sided big), omphalocele

Beckwith-Wiedemann syndrome (WT2 mutation)

Streak ovaries, congenital heart disease, horseshoe kidney, cystic hygroma, short stature, webbed neck, lymphedema

Turner syndrome (45,XO)

Red, itchy, swollen rash of nipple/areola

Paget disease of the breast (sign of underlying neoplasm)

Ovarian fibroma, ascites, pleural effusion

Meigs syndrome

Fibrous plaques in tunica albuginea of penis with | abnormal curvature

Peyronie disease (connective tissue disorder)

Hypoxemia, polycythemia, hypercapnia

``` Chronic bronchitis (hypertrophy and hyperplasia of mucous cells, “blue bloater”) ```

Pink complexion, dyspnea, hyperventilation

Emphysema (“pink puffer,” centriacinar [smoking] or | panacinar [α1-antitrypsin deficiency])

Bilateral hilar adenopathy, uveitis

Sarcoidosis (noncaseating granulomas)

S. pneumo, corona, Adeno, rhino, m. catarrhalis, h.flu TX: oral abs ammoxicillin + clavuline after 3 days Complications Orbital cellulitis, access, meningitis

Sinusitis bugs, tx, complications

Meconium ileus in neonate, recurrent pulmonary infections, nasal polyps, pancreatic insufficiency, infertility/subfertility (CFTR gene defect, chr 7, Phe508 deletion) TX: bronchodilators, physiotherapy, fat soluble vit, pancreas enzymes. pneumonia organisms: children- s. aureus; adults- pseudomonas

Cystic fibrosis

20-40 yo | all immunoglobulins low

CVID

CATCH 22. AD chromosome 22q11. phangeal pushes 3&4 C- Cardiac defects (conotruncal abnormalities [eg, tetralogy of Fallot, truncus arteriosus]) A- Abnormal facies T- Thymic hypoplasia = T-cell deficiency (recurrent viral/ fungal infections) C-Cleft palate H-Hypocalcemia 2° to parathyroid aplasia tetany

DiGeroge

reduced UDPGT stress related jaundice Mutation in UGT A1 gene promotor region

Gilbert

conjugated billirubinemia Pt has excretion problem dark granular pigmented liver (breakdown of epinephrine) ROTO: baby Rubin johnson, cannot transport bilirubin, transport protein issue

Dubin Johnson ROTO

petechia or no symptoms Low platelets SLE, lymphoma, leukemia virus : HIV, HCV anti platelet antibody IgG against GP IIb. IIIa tx: cortico sterioids

ITP

Adams 13 deficiency (metaloproteinase deficiency- normally stops thrombus formation) Sheared RBS (shistocytes) low platelet levels

TTP

Aggregation disorder, GP IIb/IIIa

Glazemann

Adhesion disorder Gp IB

Bernard soulie

Congenital failure of phagolysosome formation. Large granules in phagocytes, immunodeficiency partial albinism, progresive neurodegeneration

Chédiak-Higashi disease

``` Increases IgA increased IgE Was igA Immunodefeciency Thrombocytopenia Eczema igE Recurrent infections ```

Wiskott-Aldrich syndrome

Alternating (skipped) areas of transmural inflammation and normal colon. Fistula, accesses, obstruction associations: NHL Histo: Noncasiating granulomas ASCA: Anti-Saccharomyces cerevisiae antibodies X-ray: Narrowing of bowel lumen on barium x-ray "string sign" tx: Corticosteroids, infliximab, azathioprine, tacrolimus, cyclosporine

Crohns

Continous submucosal/ mucosal inflammation starting in the rectum. Complications: primary sclerosing cholangitis, toxic megacolon, colorectal/ cholngio carcinoma. Histo: crypt abscesses (neutrophil collections within glandular lumen) and crypt atrophy. X-ray:“Lead pipe” appearance of colon on abdominal imaging (loss of haustra) Tx: 5-ASA preparations (eg, mesalamine), 6-mercaptopurine, infliximab, colectomy (curative)

Ulcerative Colitis

AR defect N-acetylglucosaminyl-1-phosphotransferase (aka mannose 6 phospate deficiency (M6P)) Proteins staged with M6P go to lysosome for destruction. No M6P proteins and enzymes end up in plasma. Results in coarse facial features, gingival hyperplasia, corneal clouding, restricted joint movements, claw hand deformities, kyphoscoliosis, and plasma levels of lysosomal enzymes. Often fatal in childhood.

I-Cell Disease