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Elliot > Cases Random > Flashcards

Cases Random Flashcards

1
Q

Megaloblastic anemia that does not improve with B12 or folic acid?

A

Orotic aciduria– cannot convert orotic acid to UMP (no hyperammonium as opposed to OTC deficiency)

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2
Q

Hyperuricemia, gout, choreoaathetosis, mental retardation?

A

Lesch Nyhan syndrome– HGPRT deficiency. HGPRT converts Hypoxanthine to IMP– needed for purine salvage pathway

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3
Q

Difficulty with coordination, purple spots on lips and vessels on sclera of eyes?

A

Ataxia telangiectasia– non homologous end joining defect

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4
Q

Severe hepatotoxicity after mushroom ingestion?

A

Alpha amanitin toxicity due to amanita phalloides which inhibits RNA pol 2 (mRNA)

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5
Q

Patient fails to cut out introns

A

Lupus– antibodies to snRNPS–>cannot splice out introns

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6
Q

Coarse facial features, clouded corneas, restricted joint movements, high plasma enzyme level?

A

I- cell disease– mannose 6 phosphate addition defect–cannot transport lysosomal enzymes to lysosome

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7
Q

Reccurent pyogenic infections; partial albinism; peripheral neuropathy?

A

Chediak Higashi– mutation in the lysosomal trafficking regulator gene– failure of phagolysosomal complexes

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8
Q

Recurrent sinusitis, situs inversus, dec fertility

A

Kartagners– immotile cilia due to dynein defect

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9
Q

Hyperreflexive joints, early onset osteoarthritis, skin that tears easily, bleeds easily

A

Ehlers danlos– type III collagen defect (reticulin)–problems with crosslinking–also associated with berry aneurysms

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10
Q

Multiple fractures with minimal trauma, hearing loss, blue sclera?

A

Osteogenesis imperfecta–problems with collagen glycosylations

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11
Q

Nephritis and deafness?

A

Alports– xlinked– problems with type 4 collagen (important for basement membrane)

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12
Q

Very tall; long digits?

A

Marfans– defect in fibrillin

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13
Q

Mental retardation, hyperphagia, hypogonadism?

A

Prader Willi– paternal allele not expressed

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14
Q

Mental retardation, seizures, inappropriate laughter?

A

AngelMans Syndrome– maternal allele not expressed

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15
Q

2 boys and one girl in a family with hypodense calcification of bone; father also has hypodense calcification

A

Hypophosphatemic rickets– normal calcium; INC phosphate wasting at proximal tubule– X LINKED DOMINANT

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16
Q

Dwarfism, short limbs, normal trunk, larger head

A

Achondroplasia– cell signaling defect of fibroblast growth factor– assoc with advanced paternal age

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17
Q

14yo boy with recurrent history of epistaxis. Father has same history

A

Hereditary hemorrhagic telangiectasia– blood vessel do; associated with AVM

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18
Q

Hemolytic anemia with increased MCHC

A

Spherocytosis– spectrin and ankyrin defects (MCHC also elevated in sickle cell)

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19
Q

Pectus excavatum, hypermobile joins

A

Marfans– fibrillin gene mutation– inc risk for aortic aneurysms; floppy mitral valves, lens subluxation

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20
Q

Lens subluxation?

A

Ehlers danlos, Marfans, homocystinuria

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21
Q

Cafe au lait spots, pigmented iris hamartomas, neural tumors

A

Neurofibromatosis type 1

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22
Q

Bilateral acoustic schwannomas, juvenile cataracts

A

Neurofibromatosis type 2

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23
Q

Hypopigmented “ash leaf spots,” facial lesions, retinal hamartomas, seizures, renal cysts

A

Tuberous sclerosis

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24
Q

Enlargest testes, long face, everted ears, mitral valve prolapse

A

Fragile X– methylation and expression of fmr1 defect

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25
Q

Flat facies, lots of skin around the neck, duodenal atresia

A

Down Syndrome– elevated Bhcg and inhibin A; decreased AFP and estriol; most cases are due to nondisjunction; increased risk of ALL; ultrasound shows increased nuchal in first trimester

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26
Q

Severe mental retardation, small jaw, clenched hands

A

Edwards (18) also see rocker bottom feet; decreased in 3/4 quad test; normal inhibin A (inhibited from voting due to clenched fists)

27
Q

Small eyes, cleft palate, holoprosencephaly, extra fingers

A

Pataus (13)– 3 Ps polydactyly, prosencephaly, palate cleft

28
Q

Microcephaly, high pitched crying, epicanthal folds

A

Cri du chat– deletion of short arm of chromosome 5

29
Q

Elfin facies, intellectual disability, extreme friendliness (another main sx?)

A

Williams syndrome– microdeletion of long arm of 7– associated with HYPERCALCEMIA

30
Q

Hypocalcemia, cleft palate, VSD, hypothyroid

A

Digeorge

31
Q

Night blindness and dry skin

A

Vit A

32
Q

Man presents with confusion, struggles to move his eyes from side to side, and difficulty walking

A

Wernickes– B1 (thiamine) deficiency

33
Q

Man presents with confusion, struggles to move his eyes from side to side, memory loss, making things up and difficulty walking

A

Full blown Wernicke Korsakoffs– B1 (thiamine) deficiency– damage to medial dorsal nucleus of thalamus, mammillary bodies

34
Q

Dilated cardiomyopathy, edema in lower extremities– vit def?

A

B1– wet ber1ber1

35
Q

Man presents with 2 months of tingling in his hands and feet, has lost all muscle mass in past few months

A

Dry beriberi - b1 deficiency

36
Q

Cracked erythematous lips, corneal neovascularization

A

B2 (riboflavin) deficiency; cheilosis and corneal vascularization; 2 Cs of B2; FAD and FMN are derived from riboflavin

37
Q

Patient presents with dementia, diarrhea and dermatitis

A

Niacin deficiency (B3) 3Ds of B3– can be caused by Hartnups disease (decreased tryptophan absorption) or INH (which decreases B6– b6 is needed to make niacin) or carcinoid syndrome (increased 5ht3– uses up all the tryptophan)

38
Q

Facial flushing with recent start of medication for hyperlipidemia

A

Niacin excess (b3)

39
Q

Hair loss, adrenal insufficiency, skin rash, diarrhea

A

B5 deficiency (panthothenate)– essential component of CoA– needed for TCA cycle (DADA- dermatitis, alopecia, diarrhea, adrenal insufficiency)

40
Q

Man presents with convulsions two weeks after beginning treatment for TB. He has high iron levels.

A

B6 (pyridoxine deficiency) due to INH–>sideroblastic anemia; can also be due to oral contraceptives– cofactor used in transamination reactions

41
Q

22 year old female presents with decreased sensation on limbs, high iron levels, and a recent “seizure like” episode. She was started on birth control last month

A

B6 deficiency (pyridoxine) can be caused by oral contraceptives

42
Q

Pregnant woman presents with macrocytic anemia. Her neurological function is completely intact.

A

Folic acid deficiency (B9)

43
Q

Swollen gums, easily bruises, wounds that will not heal, and gets sick very easily

A

Scurvy– vit C deficiency due to problem with collagen HYDROXYLATION

44
Q

A 18-year-old girl with cystic fibrosis is brought by her father to her primary care physician with complaints of frequent stumbling on ambulation and difficulty maintaining steadiness of posture when sitting. These symptoms have progressed slowly over the last 2 months. Vital signs are normal. Physical exam shows a limited upward gaze nystagmus, decreased deep tendon reflexes, decreased proprioception and vibratory sense, and distal muscle weakness. The patient also has a profoundly impaired ability to perform finger-nose and rapid alternating movement tests.

select the most likely vitamin deficiency.

A

Vit E deficiency– increased fragility of erythrocytes, muscle weakness, posterior column and spinocerebellar tract demyelination

45
Q

Anosmia, delayed wound healing, decreased adult hair, hypogonadism

A

Zinc deficiency– not kallmans because of delayed wound healing

46
Q

8yo african boy presents with skin lesions, edema, and fatty liver.

A

Kwashiokers– MEAL- malnutrition, edema, anemia, liver (fatty)

47
Q

Vomiting, watery stools, garlic breath

A

Arsenic poisoning– blocks lipoic acid which is used for the pyruvate dehydrogenase complex–>no TCA cycle; treat with high intake of ketogenic nutrients (high lysine and leucine)

48
Q

Weakness, confusion, difficulty breathing, cherry red skin color– poison?

A

Cyanide– use amyl nitrite to treat; methemoglobin binds up cyanide

49
Q

Heinz bodies and bite cells on histology?

A

G6PD deficiency– cannot reduce nadp+ into nadph, which is necessary to detoxify free radicals

50
Q

Fructose in urine; no other symptoms?

A

Essential fructosuria– defect in fructokinase

51
Q

Hypoglycemia, jaundice, vomiting in baby– missing an enzyme

A

Aldolase B– fructose intolerance (Vague– many other causes of hypoglycemia in newborn)

52
Q

Infant with cataracts; galactose in blood and urine

A

Galactokinase deficiency– galacticol accumulates

53
Q

Infantile cataracts; jaundice, mental retardation

A

Classic galactosemia– galactose 1 phophate uridyltransferase deficiency; can lead to phosphate depletion

54
Q

Increased orotic acid in blood and urine, decreased BUN, hyperammonemia

A

Ornithine transcarbamylase deficiency;

55
Q

child with pale skin, 6% in height, seizures, musty body odor

A

PKU– dt phenylalanine hydroxylase; tyrosine becomes an essential AA; remember tyrosine gets converted to thryoxine and dopa (dopa goes to melanin and dopamine)

56
Q

Brown sclera, urine turns black when in the toilet too long; arthralgies

A

Alkaptonuria; cannot breakdown tyrosine to fumerate– missing homogentisic acid oxidase

57
Q

pale african boy

A

Albinism– dt tyrosinase deficiency or tyrosine transporter deficiency– remember dopa is converted to melanin

58
Q

Lens subluxation; tall stature; mental retardation; MI at age of 5

A

Homocystinuria– cystathionine synthase deficiency or homocystein methyltransferase

59
Q

Excess cystin in urine; hexagonal crystals and renal staghorn caliculi

A

Defect in PCT–>increased excretion of cystin–>precipitation of hexagonal crystals; treat with urinary alkalization and hydration

60
Q

Urine has fruity smell, CNS defects; increased alpha ketoacids in blood

A

Maple syrup urine disease; blocked degradation of branched amino acids dt decrease in B1–>dec alpha ketoacid dehydrogenase. Isoleucine, Leucine, Valine

61
Q

Dementia, diarrhea, dermatitis, AA in urine

A

Hartnups– tryptophan excretion in urine (distinguished from niacin deficiency based on AA

62
Q

High blood lactate level, significant increase of glycogen in liver, fasting hypoglycemia

A

Von Gierkes- glucose 6 phosphatase deficiency

63
Q

Painful cramps with strenuous exercise

A

McArdle’s– missing skeletal muscle glycogen phosphorylase

Elliot (11 decks)

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