Cases Random Flashcards
Megaloblastic anemia that does not improve with B12 or folic acid?
Orotic aciduria– cannot convert orotic acid to UMP (no hyperammonium as opposed to OTC deficiency)
Hyperuricemia, gout, choreoaathetosis, mental retardation?
Lesch Nyhan syndrome– HGPRT deficiency. HGPRT converts Hypoxanthine to IMP– needed for purine salvage pathway
Difficulty with coordination, purple spots on lips and vessels on sclera of eyes?
Ataxia telangiectasia– non homologous end joining defect
Severe hepatotoxicity after mushroom ingestion?
Alpha amanitin toxicity due to amanita phalloides which inhibits RNA pol 2 (mRNA)
Patient fails to cut out introns
Lupus– antibodies to snRNPS–>cannot splice out introns
Coarse facial features, clouded corneas, restricted joint movements, high plasma enzyme level?
I- cell disease– mannose 6 phosphate addition defect–cannot transport lysosomal enzymes to lysosome
Reccurent pyogenic infections; partial albinism; peripheral neuropathy?
Chediak Higashi– mutation in the lysosomal trafficking regulator gene– failure of phagolysosomal complexes
Recurrent sinusitis, situs inversus, dec fertility
Kartagners– immotile cilia due to dynein defect
Hyperreflexive joints, early onset osteoarthritis, skin that tears easily, bleeds easily
Ehlers danlos– type III collagen defect (reticulin)–problems with crosslinking–also associated with berry aneurysms
Multiple fractures with minimal trauma, hearing loss, blue sclera?
Osteogenesis imperfecta–problems with collagen glycosylations
Nephritis and deafness?
Alports– xlinked– problems with type 4 collagen (important for basement membrane)
Very tall; long digits?
Marfans– defect in fibrillin
Mental retardation, hyperphagia, hypogonadism?
Prader Willi– paternal allele not expressed
Mental retardation, seizures, inappropriate laughter?
AngelMans Syndrome– maternal allele not expressed
2 boys and one girl in a family with hypodense calcification of bone; father also has hypodense calcification
Hypophosphatemic rickets– normal calcium; INC phosphate wasting at proximal tubule– X LINKED DOMINANT
Dwarfism, short limbs, normal trunk, larger head
Achondroplasia– cell signaling defect of fibroblast growth factor– assoc with advanced paternal age
14yo boy with recurrent history of epistaxis. Father has same history
Hereditary hemorrhagic telangiectasia– blood vessel do; associated with AVM
Hemolytic anemia with increased MCHC
Spherocytosis– spectrin and ankyrin defects (MCHC also elevated in sickle cell)
Pectus excavatum, hypermobile joins
Marfans– fibrillin gene mutation– inc risk for aortic aneurysms; floppy mitral valves, lens subluxation
Lens subluxation?
Ehlers danlos, Marfans, homocystinuria
Cafe au lait spots, pigmented iris hamartomas, neural tumors
Neurofibromatosis type 1
Bilateral acoustic schwannomas, juvenile cataracts
Neurofibromatosis type 2
Hypopigmented “ash leaf spots,” facial lesions, retinal hamartomas, seizures, renal cysts
Tuberous sclerosis
Enlargest testes, long face, everted ears, mitral valve prolapse
Fragile X– methylation and expression of fmr1 defect
Flat facies, lots of skin around the neck, duodenal atresia
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
Severe mental retardation, small jaw, clenched hands
Edwards (18) also see rocker bottom feet; decreased in 3/4 quad test; normal inhibin A (inhibited from voting due to clenched fists)
Small eyes, cleft palate, holoprosencephaly, extra fingers
Pataus (13)– 3 Ps polydactyly, prosencephaly, palate cleft
Microcephaly, high pitched crying, epicanthal folds
Cri du chat– deletion of short arm of chromosome 5
Elfin facies, intellectual disability, extreme friendliness (another main sx?)
Williams syndrome– microdeletion of long arm of 7– associated with HYPERCALCEMIA
Hypocalcemia, cleft palate, VSD, hypothyroid
Digeorge
Night blindness and dry skin
Vit A
Man presents with confusion, struggles to move his eyes from side to side, and difficulty walking
Wernickes– B1 (thiamine) deficiency
Man presents with confusion, struggles to move his eyes from side to side, memory loss, making things up and difficulty walking
Full blown Wernicke Korsakoffs– B1 (thiamine) deficiency– damage to medial dorsal nucleus of thalamus, mammillary bodies
Dilated cardiomyopathy, edema in lower extremities– vit def?
B1– wet ber1ber1
Man presents with 2 months of tingling in his hands and feet, has lost all muscle mass in past few months
Dry beriberi - b1 deficiency
Cracked erythematous lips, corneal neovascularization
B2 (riboflavin) deficiency; cheilosis and corneal vascularization; 2 Cs of B2; FAD and FMN are derived from riboflavin
Patient presents with dementia, diarrhea and dermatitis
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)
Facial flushing with recent start of medication for hyperlipidemia
Niacin excess (b3)
Hair loss, adrenal insufficiency, skin rash, diarrhea
B5 deficiency (panthothenate)– essential component of CoA– needed for TCA cycle (DADA- dermatitis, alopecia, diarrhea, adrenal insufficiency)
Man presents with convulsions two weeks after beginning treatment for TB. He has high iron levels.
B6 (pyridoxine deficiency) due to INH–>sideroblastic anemia; can also be due to oral contraceptives– cofactor used in transamination reactions
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
B6 deficiency (pyridoxine) can be caused by oral contraceptives
Pregnant woman presents with macrocytic anemia. Her neurological function is completely intact.
Folic acid deficiency (B9)
Swollen gums, easily bruises, wounds that will not heal, and gets sick very easily
Scurvy– vit C deficiency due to problem with collagen HYDROXYLATION
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.
Vit E deficiency– increased fragility of erythrocytes, muscle weakness, posterior column and spinocerebellar tract demyelination
Anosmia, delayed wound healing, decreased adult hair, hypogonadism
Zinc deficiency– not kallmans because of delayed wound healing
8yo african boy presents with skin lesions, edema, and fatty liver.
Kwashiokers– MEAL- malnutrition, edema, anemia, liver (fatty)
Vomiting, watery stools, garlic breath
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)
Weakness, confusion, difficulty breathing, cherry red skin color– poison?
Cyanide– use amyl nitrite to treat; methemoglobin binds up cyanide
Heinz bodies and bite cells on histology?
G6PD deficiency– cannot reduce nadp+ into nadph, which is necessary to detoxify free radicals
Fructose in urine; no other symptoms?
Essential fructosuria– defect in fructokinase
Hypoglycemia, jaundice, vomiting in baby– missing an enzyme
Aldolase B– fructose intolerance (Vague– many other causes of hypoglycemia in newborn)
Infant with cataracts; galactose in blood and urine
Galactokinase deficiency– galacticol accumulates
Infantile cataracts; jaundice, mental retardation
Classic galactosemia– galactose 1 phophate uridyltransferase deficiency; can lead to phosphate depletion
Increased orotic acid in blood and urine, decreased BUN, hyperammonemia
Ornithine transcarbamylase deficiency;
child with pale skin, 6% in height, seizures, musty body odor
PKU– dt phenylalanine hydroxylase; tyrosine becomes an essential AA; remember tyrosine gets converted to thryoxine and dopa (dopa goes to melanin and dopamine)
Brown sclera, urine turns black when in the toilet too long; arthralgies
Alkaptonuria; cannot breakdown tyrosine to fumerate– missing homogentisic acid oxidase
pale african boy
Albinism– dt tyrosinase deficiency or tyrosine transporter deficiency– remember dopa is converted to melanin
Lens subluxation; tall stature; mental retardation; MI at age of 5
Homocystinuria– cystathionine synthase deficiency or homocystein methyltransferase
Excess cystin in urine; hexagonal crystals and renal staghorn caliculi
Defect in PCT–>increased excretion of cystin–>precipitation of hexagonal crystals; treat with urinary alkalization and hydration
Urine has fruity smell, CNS defects; increased alpha ketoacids in blood
Maple syrup urine disease; blocked degradation of branched amino acids dt decrease in B1–>dec alpha ketoacid dehydrogenase. Isoleucine, Leucine, Valine
Dementia, diarrhea, dermatitis, AA in urine
Hartnups– tryptophan excretion in urine (distinguished from niacin deficiency based on AA
High blood lactate level, significant increase of glycogen in liver, fasting hypoglycemia
Von Gierkes- glucose 6 phosphatase deficiency
Painful cramps with strenuous exercise
McArdle’s– missing skeletal muscle glycogen phosphorylase
