claude buzzwords Flashcards

Question

🔑 Buzzword: "Cafe-au-lait spots" (≥6) + Lisch nodules + axillary freckling

Answer 1

Neurofibromatosis type 1 (NF1) ⭐ • Autosomal dominant; NF1 gene on chromosome 17 • Also: optic glioma, neurofibromas, osseous lesions, learning disability

Answer 2

Tuberous sclerosis complex (TSC) ⭐ • TSC1 or TSC2 gene; autosomal dominant • Also: shagreen patch, subependymal nodules, renal angiomyolipomas • Cardiac rhabdomyoma is the neonatal hallmark

Answer 3

Sturge-Weber syndrome ⭐ • Somatic mosaic mutation in GNAQ gene (NOT inherited) • Leptomeningeal angiomatosis → "tram-track" calcifications on imaging

Answer 4

Von Hippel-Lindau (VHL) syndrome • VHL tumor suppressor gene on chromosome 3p • Autosomal dominant; rarely presents in neonatal period but high-yield for boards

Answer 5

Phenylketonuria (PKU) ⭐ • Phenylalanine hydroxylase deficiency; autosomal recessive • Detected on newborn screen; normal at birth → symptoms develop if untreated • Treatment: phenylalanine-restricted diet

Answer 6

Maple syrup urine disease (MSUD) ⭐ • Branched-chain alpha-ketoacid dehydrogenase deficiency • Elevated leucine, isoleucine, valine • ⚠ Leucine is the neurotoxic amino acid

Answer 7

Isovaleric acidemia ⭐ • Isovaleryl-CoA dehydrogenase deficiency (leucine pathway) • "Sweaty feet" or "cheesy" odor is pathognomonic buzzword • Organic acidemia → elevated isovalerylglycine on urine organic acids

Answer 8

Tyrosinemia (or methionine disorders) • Tyrosinemia type I: fumarylacetoacetate hydrolase deficiency → liver failure, renal tubular dysfunction • Treatment: nitisinone (NTBC) + dietary tyrosine/phenylalanine restriction

Answer 9

Classic galactosemia ⭐ • Galactose-1-phosphate uridylyltransferase (GALT) deficiency • E. coli sepsis is the classic infectious complication • Reducing substances positive in urine; detected on newborn screen

Answer 10

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency ⭐ • Most common fatty acid oxidation disorder • Presents with fasting intolerance, Reye-like episodes • C8 (octanoylcarnitine) elevated on acylcarnitine profile

Answer 11

Urea cycle defect ⭐ • Key distinction: urea cycle defects → respiratory alkalosis (from hyperventilation) with elevated ammonia • Organic acidemias → hyperammonemia WITH metabolic acidosis • Most common: OTC deficiency (X-linked)

Answer 12

Organic acidemia ⭐ • Propionic acidemia, methylmalonic acidemia, isovaleric acidemia • Distinguish from urea cycle defects by presence of acidosis • Check urine organic acids and acylcarnitine profile

Answer 13

Ornithine transcarbamylase (OTC) deficiency ⭐ • X-linked; most common urea cycle defect • Orotic acid elevated because carbamyl phosphate diverts to pyrimidine pathway • Distinguishes OTC from CPS1 deficiency (no orotic aciduria in CPS1)

Answer 14

Tay-Sachs or Niemann-Pick disease ⭐ • Tay-Sachs: hexosaminidase A deficiency; NO hepatosplenomegaly; Ashkenazi Jewish • Niemann-Pick type A: sphingomyelinase deficiency; HAS hepatosplenomegaly • Both have cherry-red spot on fundoscopy

Answer 15

Hurler syndrome (MPS I-H) ⭐ • Alpha-L-iduronidase deficiency; dermatan & heparan sulfate accumulation • Most severe MPS; corneal clouding distinguishes from Hunter (MPS II) • Hunter (MPS II): X-linked, NO corneal clouding → "Hunters need to see"

Answer 16

Gaucher disease (type 1 most common) ⭐ • Glucocerebrosidase deficiency; most common lysosomal storage disease • Type 2 (acute neuronopathic) → infantile, rapidly fatal • Ashkenazi Jewish population

Answer 17

Prader-Willi syndrome ⭐ • Loss of paternal 15q11-q13 (imprinting disorder) • Neonatal: severe hypotonia, poor suck, cryptorchidism • Later: hyperphagia, obesity, behavioral issues

Answer 18

Angelman syndrome ⭐ • Loss of maternal UBE3A at 15q11-q13 • Mirror imprinting of Prader-Willi (maternal vs. paternal) • EEG: high-amplitude slow spike-wave pattern

Answer 19

Congenital disorders of glycosylation (CDG) ⭐ • Especially CDG-Ia (PMM2 deficiency) • Also: cerebellar hypoplasia, strabismus, failure to thrive, pericardial effusions • Transferrin isoelectric focusing for diagnosis

Answer 20

Zellweger syndrome (peroxisomal biogenesis disorder) ⭐ • Most severe of peroxisomal disorders; absent peroxisomes • Large anterior fontanelle, profound hypotonia, renal cortical cysts • Also: chondrodysplasia punctata on X-ray (stippled epiphyses)

Answer 21

Congenital adrenal hyperplasia (21-hydroxylase deficiency) ⭐ • Most common form of CAH (~95%) • 46,XX: virilization (ambiguous genitalia); 46,XY: may appear normal • Detected on newborn screen (17-OHP)

Answer 22

11β-hydroxylase deficiency (CAH variant) • Second most common CAH • Unlike 21-hydroxylase: HYPERTENSION (due to 11-deoxycorticosterone accumulation) • Virilization occurs in both 11β-OH and 21-OH deficiency

Answer 23

17α-hydroxylase deficiency (CAH variant) • 46,XY: undervirilized/phenotypic female; 46,XX: no puberty but no virilization • Hypertension from mineralocorticoid excess • Both sexes: sexual infantilism at puberty

Answer 24

Respiratory distress syndrome (RDS) ⭐ • Surfactant deficiency; premature infants • Diffuse, uniform ground-glass pattern with air bronchograms • Treatment: surfactant, CPAP, mechanical ventilation

Answer 25

Transient tachypnea of the newborn (TTN) ⭐ • Delayed clearance of fetal lung fluid (ENaC-mediated reabsorption impaired) • Risk factors: C-section (no labor), late preterm • Self-limited; resolves in 24–72 hours

Answer 26

Meconium aspiration syndrome (MAS) ⭐ • Chemical pneumonitis + airway obstruction + surfactant inactivation • Associated with PPHN; may need iNO or ECMO • Coarse, irregular opacities on CXR

Answer 27

Pneumonia or severe RDS ⭐ • GBS pneumonia in term infant mimics RDS on CXR • Key clinical distinction: GBS pneumonia → term baby with risk factors (maternal GBS+, PROM)

Answer 28

Normal thymus ⭐ • Triangular thymic shadow overlying cardiac silhouette • "Sail sign" = normal variant, NOT pathology • Absent thymic shadow → think DiGeorge (22q11.2 deletion)

Answer 29

Total anomalous pulmonary venous return (TAPVR) — supracardiac type ⭐ • Vertical vein + SVC + dilated innominate vein = figure-of-8 appearance • Cyanotic heart disease with increased pulmonary blood flow

Answer 30

Transposition of the great arteries (d-TGA) ⭐ • Narrow mediastinum (due to anteroposterior orientation of great vessels) • Cyanosis at birth, depends on mixing (PFO, PDA, VSD)

Answer 31

Tetralogy of Fallot (TOF) ⭐ • Upturned apex due to right ventricular hypertrophy • VSD + overriding aorta + RV outflow obstruction + RVH • Most common cyanotic heart disease overall

Answer 32

Ebstein anomaly ⭐ • Apical displacement of tricuspid valve → massive right atrial enlargement • Associated with maternal lithium use, WPW syndrome

Answer 33

Duodenal atresia ⭐ • Dilated stomach + dilated proximal duodenum with no distal gas • Strong association with Trisomy 21 (Down syndrome ~30%) • Treated surgically (duodenoduodenostomy)

Answer 34

Midgut volvulus ⭐ • Bilious emesis in neonate = volvulus until proven otherwise • Upper GI (not CT in neonates) is diagnostic study of choice • Surgical emergency — Ladd procedure

Answer 35

Jejunal atresia • Multiple dilated loops proximal to atresia • "Apple-peel" or "Christmas tree" atresia = type IIIb (distal bowel spirals around marginal artery)

Answer 36

Meconium ileus ⭐ • Think cystic fibrosis (CF) — virtually pathognomonic in neonate • "Soap-bubble" or "ground-glass" appearance in RLQ on AXR • Sweat chloride test / CF genetic testing

Answer 37

Necrotizing enterocolitis (NEC) ⭐ • Pneumatosis = pathognomonic radiographic sign • Portal venous gas = ominous sign • Modified Bell staging; surgical indication: perforation (free air)

Answer 38

Intussusception • Lead point rarely identified in infants (unlike older children with Meckel, polyps, etc.) • Air or hydrostatic enema = diagnostic AND therapeutic

Answer 39

Hirschsprung disease ⭐ • Absence of ganglion cells (aganglionosis); starts at rectum, extends proximally • Suction rectal biopsy is gold standard (absent ganglion cells + hypertrophied nerve trunks) • Associated with Trisomy 21, MEN2A/RET mutations

Answer 40

Sturge-Weber syndrome ⭐ • Leptomeningeal angiomatosis → cortical calcifications • Ipsilateral port-wine stain (V1 distribution), seizures, glaucoma

Answer 41

Congenital CMV infection ⭐ • Most common congenital infection overall • Also: microcephaly, SNHL, hepatosplenomegaly, petechiae/blueberry muffin spots, chorioretinitis

Answer 42

Congenital toxoplasmosis ⭐ • Diffuse calcifications (vs. periventricular in CMV) • Classic triad: chorioretinitis + hydrocephalus + intracranial calcifications • Also: seizures, hepatosplenomegaly

Answer 43

Nonspecific — seen in congenital infections, chromosomal abnormalities, drug exposure • Most commonly associated with congenital CMV • Branching echogenic vessels in thalami/basal ganglia • Isolated finding often benign

Answer 44

White matter injury of prematurity ⭐ • Cystic PVL = most predictive of cerebral palsy (spastic diplegia) • Injury to periventricular white matter, esp. at watershed zones • Risk factors: prematurity, ischemia/reperfusion, chorioamnionitis

Answer 45

Congenital infection (CMV, rubella, toxo) OR dermal erythropoiesis ⭐ • Dermal erythropoiesis = extramedullary hematopoiesis in skin • Non-infectious causes: Rh hemolytic disease, twin-twin transfusion, congenital leukemia

Answer 46

Congenital syphilis (late manifestations = Hutchinson triad) ⭐ • Hutchinson teeth: peg-shaped, notched upper central incisors • Early congenital syphilis: snuffles (rhinitis), hepatosplenomegaly, periostitis, rash

Answer 47

Early congenital syphilis ⭐ • Snuffles = mucopurulent/bloody nasal discharge (highly infectious) • Pseudoparalysis of Parrot = pain from periostitis/osteochondritis → refuses to move limb • Diagnosis: RPR/VDRL (nontreponemal) + FTA-ABS/TP-PA (treponemal)

Answer 48

Congenital varicella syndrome ⭐ • Maternal varicella infection in first 20 weeks of pregnancy • Cicatricial (zigzag) skin scarring in dermatomal pattern • Limb hypoplasia, microcephaly, chorioretinitis, cataracts

Answer 49

Congenital parvovirus B19 infection ⭐ • Infects erythroid precursors → severe fetal anemia → hydrops • "Slapped cheek" rash in mother (fifth disease / erythema infectiosum) • Treatment: intrauterine transfusion for severe fetal anemia

Answer 50

Neonatal herpes simplex virus (HSV) ⭐ • Three categories: SEM (skin-eyes-mouth), CNS, disseminated • HSV-2 more common neonatally; acyclovir is treatment • Maternal primary infection at delivery = highest transmission risk

Answer 51

Congenital syphilis ⭐ • Radiographic periostitis and metaphyseal irregularities ("celery-stalk" metaphyses) • Wimberger sign = bilateral proximal tibial metaphyseal destruction • Treat with IV penicillin G x 10 days

Answer 52

Chloramphenicol toxicity ⭐ • Due to immature hepatic glucuronidation in neonates • Abdominal distension, vomiting, gray discoloration, cardiovascular collapse • Historical but still high-yield for boards

Answer 53

Vancomycin (rapid infusion) ⭐ • Histamine-mediated (NOT true allergy); caused by too-rapid infusion • Flushing, erythema of face/neck/torso; prevented by slow infusion • Also monitor for nephrotoxicity and ototoxicity

Answer 54

Benzyl alcohol preservative toxicity ⭐ • Found in bacteriostatic saline/water and some IV flush solutions • Metabolic acidosis, gasping respirations, cardiovascular collapse, CNS depression • Use preservative-free formulations in neonates

Answer 55

Tetracycline toxicity • Contraindicated in pregnancy and children <8 years • Permanent yellow-brown tooth staining; enamel hypoplasia • Also: photosensitivity

Answer 56

Aminoglycosides (gentamicin, tobramycin, amikacin) ⭐ • Monitor trough levels (target depends on agent) • Vestibular + cochlear toxicity; nephrotoxicity (usually reversible) • Extended-interval dosing preferred in neonates

Answer 57

Fluoroquinolones (ciprofloxacin, levofloxacin) • Tendon rupture / arthropathy risk (seen in animal studies) • Generally avoided in neonates; rarely used for MDR gram-negative infections

Answer 58

Hypoxic-ischemic encephalopathy (HIE) management ⭐ • Cool to 33.5°C (whole body) for 72 hours, then slow rewarming • Criteria: ≥36 weeks GA, evidence of perinatal asphyxia, moderate-severe encephalopathy • Sarnat staging used to classify severity

Answer 59

Caffeine citrate ⭐ • Preferred over theophylline (wider therapeutic index, once-daily dosing, fewer side effects) • Loading dose: 20 mg/kg caffeine citrate; maintenance: 5-10 mg/kg/day • Also shown to reduce BPD in VLBW infants (CAP trial)

Answer 60

Prostaglandin E1 (alprostadil / PGE1) ⭐ • Used in ductal-dependent lesions (both cyanotic and acyanotic) • Side effects: apnea, hypotension, fever, jitteriness • Monitor for apnea → may need intubation

Answer 61

Indomethacin or ibuprofen (COX inhibitors) ⭐ • Used to close hemodynamically significant PDA • Ibuprofen = less renal side effects; indomethacin = decreases IVH risk • Acetaminophen IV emerging as alternative

Answer 62

Sulfonamides / ceftriaxone in neonates ⭐ • Sulfonamides displace bilirubin from albumin → ↑ free bilirubin → kernicterus risk • Ceftriaxone: also displaces bilirubin + forms calcium-ceftriaxone precipitates • Both AVOIDED in neonates (especially jaundiced/premature)

Answer 63

Betamethasone (or dexamethasone) ⭐ • Induces surfactant production + accelerates structural lung maturation • Optimal benefit: given 24–168 hours (1–7 days) before delivery • Also reduces IVH, NEC risk; recommended 23–34 weeks GA (and consider at late preterm)

Answer 64

Vitamin K (phytonadione) ⭐ • IM injection at birth prevents vitamin K deficiency bleeding (VKDB) • Early VKDB: day 1 (maternal drugs — warfarin, anticonvulsants) • Classic VKDB: days 2–7; Late VKDB: 2–12 weeks (breastfed, no prophylaxis)

Answer 65

Phenobarbital ⭐ • First-line antiepileptic drug for neonatal seizures • Loading dose: 20 mg/kg; additional 5-10 mg/kg boluses PRN (max ~40 mg/kg total) • Maintenance: 3-5 mg/kg/day; therapeutic level 20-40 mcg/mL

Answer 66

Naloxone — BUT use with extreme caution ⭐ • ⚠ NOT recommended in neonates born to opioid-dependent mothers (can precipitate acute withdrawal/seizures) • Focus on ventilatory support (bag-mask ventilation) rather than naloxone in delivery room

Answer 67

Biliary atresia ⭐ • Most important diagnosis to rule out in neonatal cholestasis • Diagnosis: abdominal US (triangular cord sign, absent/small gallbladder), HIDA scan, intraoperative cholangiogram • Kasai portoenterostomy ideally before 30-60 days of age

Answer 68

Biliary atresia (periductal fibrosis pattern) • Ductular proliferation with progressive fibrosis • Distinguish from neonatal hepatitis (giant cell transformation)

Answer 69

Retinoblastoma OR congenital cataract ⭐ • Retinoblastoma: RB1 gene; most common intraocular malignancy of childhood • Congenital cataracts: TORCH infections (rubella classic), galactosemia, Lowe syndrome, trisomy 21 • ALL neonates need red reflex exam before discharge

Answer 70

Congenital hypothyroidism ⭐ • Most common: thyroid dysgenesis (aplasia/ectopic) • Elevated TSH on newborn screen • Treatment: levothyroxine ASAP to prevent intellectual disability • Goal: normalize TSH by 1 month

Answer 71

Upper brachial plexus injury (C5-C6) ⭐ • Arm adducted, internally rotated, extended at elbow, pronated forearm • Risk factors: shoulder dystocia, macrosomia, LGA • Moro reflex asymmetric; grasp reflex intact

Answer 72

Lower brachial plexus injury (C8-T1) ⭐ • Hand/wrist weakness with "claw hand" • If T1 involved → ipsilateral Horner syndrome (ptosis, miosis, anhidrosis) • Much less common than Erb palsy

Answer 73

Congenital neuroblastoma (Stage 4S) • Stage 4S: localized primary tumor + metastases limited to skin, liver, bone marrow (<10%) in infant <18 months • May spontaneously regress; elevated urine catecholamines (VMA, HVA)

Answer 74

Klebsiella pneumoniae • Encapsulated gram-negative rod • Hospital-acquired pneumonia in NICU; can cause necrotizing pneumonia • Also associated with UTI and late-onset sepsis in NICU

Answer 75

Coagulase-negative Staphylococcus (CoNS, e.g., S. epidermidis) ⭐ • Most common cause of late-onset sepsis in VLBW infants • Biofilm formation on central venous catheters • Treatment: vancomycin

Answer 76

Group B Streptococcus (GBS, S. agalactiae) ⭐ • Most common cause of early-onset sepsis in term neonates • Intrapartum antibiotic prophylaxis (penicillin or ampicillin) • Also: meningitis, pneumonia (CXR can mimic RDS)

Answer 77

Escherichia coli ⭐ • Most common cause of early-onset sepsis in VLBW/preterm infants • K1 capsular antigen associated with meningitis • Increasing ampicillin resistance → empiric ampicillin + gentamicin

Answer 78

Listeria monocytogenes ⭐ • Gram-positive rod with tumbling motility • Granulomatosis infantiseptica = disseminated form with widespread granulomas • Treatment: ampicillin (NOT cephalosporins — Listeria is resistant)

Answer 79

Staphylococcus aureus (most common) or GBS ⭐ • Neonatal osteomyelitis: often hematogenous spread • Can cross physis in neonates (unlike older children) → joint involvement • Presentation may be subtle: pseudoparalysis, swelling

Answer 80

Neisseria gonorrhoeae ⭐ • Onset typically days 2-5 of life; can cause corneal perforation • Distinguish from chlamydial conjunctivitis (onset days 5-14, less purulent) • Treatment: ceftriaxone (single dose IM/IV); erythromycin prophylaxis at birth

Answer 81

Chlamydia trachomatis ⭐ • Later onset than gonococcal; can cause chlamydial pneumonia ("staccato cough" at 4-12 weeks) • Diagnosis: NAAT of conjunctival swab • Treatment: oral erythromycin (topical is NOT sufficient; also treats/prevents pneumonia)

Answer 82

Chlamydia trachomatis pneumonia ⭐ • History of conjunctivitis in first 2 weeks (not always present) • Treatment: oral macrolide (erythromycin or azithromycin) • ⚠ Erythromycin in neonates → monitor for pyloric stenosis

Answer 83

Staphylococcal scalded skin syndrome (SSSS) ⭐ • Exfoliative toxins A and B from S. aureus (phage group II) • Nikolsky sign = skin sloughs with gentle pressure • Distinguish from TEN: SSSS splits within epidermis (superficial); TEN = full-thickness

Answer 84

Impetigo (S. aureus or S. pyogenes) • Bullous impetigo = S. aureus (exfoliative toxins, localized form of SSSS) • Non-bullous impetigo = S. aureus or GAS • Treatment: topical mupirocin (localized) or oral antibiotics (extensive)

Answer 85

Candida (oral thrush + candidal diaper dermatitis) ⭐ • Candida albicans most common; satellite lesions on diaper area • Treatment: oral nystatin for thrush; topical antifungal for diaper • Systemic candidiasis in VLBW: amphotericin B or fluconazole

Answer 86

Neonatal lupus ⭐ • Complete heart block is the most serious manifestation (irreversible) • Also: transient rash, cytopenias, hepatitis (these resolve) • Maternal antibodies cross placenta → direct myocardial damage at AV node

Answer 87

Alagille syndrome • JAG1 mutation (Notch signaling pathway); autosomal dominant • Bile duct paucity + characteristic facies (broad forehead, deep-set eyes, pointed chin) • Also: butterfly vertebrae, posterior embryotoxon (eye), peripheral pulmonic stenosis

Answer 88

Occult spinal dysraphism / tethered cord ⭐ • "High-risk" cutaneous markers: deep dimple (>2.5 cm from anus), deviated gluteal crease, lipoma, hemangioma, hairy patch, skin tag • Evaluate with spinal ultrasound (before 3 months while posterior elements still cartilaginous)

Answer 89

Infantile hemangioma ⭐ • Most common benign vascular tumor of infancy • Proliferative phase (0-12 months) → involuting phase (1-5+ years) • Treatment (if problematic): propranolol (first-line); indications: airway, periocular, ulcerated, disfiguring

Answer 90

Propranolol (oral) ⭐ • First-line systemic therapy for infantile hemangiomas • Monitor for bradycardia, hypotension, hypoglycemia, bronchospasm • Topical timolol for small, superficial hemangiomas

Answer 91

Renal tubular acidosis (RTA) • Type I (distal): cannot acidify urine; urine pH >5.5 despite acidosis; nephrocalcinosis • Type II (proximal): bicarbonate wasting; Fanconi syndrome associations • Type IV: hyperkalemia + hypoaldosteronism

Answer 92

Renal anomaly — assess with postnatal renal US ⭐ • Multicystic dysplastic kidney (MCDK): non-functioning; large, irregular cysts; no communication • Distinguish from hydronephrosis (dilated collecting system) and polycystic kidney disease • MCDK: involutes over time; contralateral kidney compensates

Answer 93

Karyotype + 17-OHP + electrolytes ⭐ • 21-hydroxylase deficiency CAH is the most common cause of ambiguous genitalia in 46,XX • ⚠ Salt-wasting crisis can be life-threatening → check electrolytes urgently • Do NOT assign sex until evaluation is complete

Answer 94

Congenital hyperinsulinism (or infant of diabetic mother) ⭐ • Hallmark: hypoglycemia with inappropriately elevated insulin + low FFA + low ketones • GIR >10-12 mg/kg/min suggests hyperinsulinism • IDM: transient; Congenital HI: persistent → may need diazoxide or surgery

Answer 95

Von Willebrand disease • Most common inherited bleeding disorder • Type 1 (most common): quantitative decrease in vWF • Type 2: qualitative vWF defect; Type 3: severe/absent vWF • Treatment: DDAVP (type 1) or vWF-containing factor concentrate

Answer 96

Testicular torsion vs. torsion of appendix testis ⭐ • Testicular torsion: absent cremasteric reflex → surgical emergency • "Blue dot sign" = torsion of appendix testis (benign, self-limited) • Doppler US to differentiate; if torsion suspected → do NOT delay surgery for imaging

claude buzzwords Flashcards

(120 cards)