Classic Presentations Flashcards
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)
situs inversus, chronic sinusitis, bronchiectasis, infertility
(dyne arm defect affecting cilia)
Kartagner Syndrome
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
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
Arachnodactyly, lens dislocation (upward)aortic dissection, hyperflexible joints
Chromosome 15 (fibrillar defect)
Marfan syndrome
Cafe-au-Lait (unilateral), polyostotic fibrous dysplasia, endocrine abnormalites (precocious puberty)
(mosaic Gs-protein signaling mutation)
McCune-Albright syndrome
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
ABCCCD
alcohol, Beri beri, coxsacci, chagas, cocain, doxirubicin
Dilated Cardiomyopathy causes
Slow, Progressive muscle weakness in the boys
(X-linked missense mutation in dystrophin; less severe than Duchenne)
Becker muscular dystrophy
Infant with cleft lip/ palate, microcephaly or holoprosencephaly, polydactyly, cutis aplasia
Patua syndrome (tri 13)
Infant with microcephaly, rocker bottom feet, clenched hands, and structural heart defect
Edwards syndrome (tri 18)
Single palmar crease
Down syndrome
Dilated cardiomyopathy, edema, alcoholism or malnutrition
thiamine [B1] deficiency
Wet Beriberi
Dermatitis, dementia, diarrhea
Pellagra (niacin [B3] deficiency)
Swollen gums, mucosal bleeding, poor wound healing, petechiae
Cant hydroxylate proline/lysine for collage synthesis
Scurvy (vit C deficiency)
Chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria, low lactate levels
(skeletal muscle glycogen phosphorylase deficiency)
McArdle disease
Cori disease (deb ranching enzyme deficiency) or Von Gierke disease (glucose 6 phosphate deficiency, more severe)
Infant with hypoglycemia, hepatomegaly
myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance
(lysosomal alpha-1,4 glucosidase deficiency)
Pompe disease
Tay-Sachs (ganglioside accumulation) or Niemann Pick (sphingomyelin accumulation), central retinal artery occlusion
“cherry-red spots” on macula
Hepatosplenomegaly, pancytopenia, osteoporosis, aseptic necrosis of the femoral head bone crises
(glucocerebrosidase deficiency)
Gaucher disease
Achilles tendon xanthoma
decreased LDL receptor signaling
familial hypercholesterolemia
Anaphylaxis flowing blood transfussion
gice IgA deficiency blood or wash blood products to remove IgA
IgA deficiency
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)
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)
“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
