neonatal condensed stuff Flashcards

Question

Kleinfelt syndrome

Answer 1

* Incidence of 1:1000 in males; rarely causes spontaneous abortions * Clinical manifestations: * After puberty: Small testes, gynecomastia, diminished facial/body hair, tall/eunuchoid build, decreased muscle mass * IQ borderline-normal * Extra X chromosome > decreased testicular growth > low testosterone > delayed/absent/incomplete puberty, azoospermia, and infertility * Treatment: Testosterone replacement Sex Chromosome Abnormalities: Klinefelter Syndrome (XXY)

Answer 2

-CDC recommends blood lead screening at 12 + 24 months -screen in temper tantrum -Lead intoxication (plumbism) can cause developmental and behavioral abnormalities -RF: older homes w/ cracked lead-based paint, industrial exposure, use of foreign remedies, and use of pottery with lead paint glaze -affects the CNS -vague sx: -Early: Weakness, irritability, wt loss, vomiting, personality changes, ataxia, constipation, h/a, and colicky abdominal pain -Late: Developmental delays, convulsions, and coma assoc with increased ICP -If lead +, investigation if: -levels of 20 mcg/dL on 1x test OR -persistent 15 mcg/dL over 3mo (decontamination techniques used once source identified) -Tx: -Succimer- oral chelator recommended in asymptomatic with levels > 45 mcg/dL -IM dimercaprol/BAL and IV calcium sodium edetate in symptomatic with encephalopathy or levels > 70 mcg/dL

Answer 3

-Sudden infant death syndrome (SIDS)- sudden death of infant < 1yo that is unexplained after thorough case investigation -Sudden unexpected infant death syndrome (SUID)- sudden and unexpected infant death (explained or unexplained) –> preferred term -Includes deaths due to infection, ingestions, metabolic diseases, cardiac arrhythmias, and trauma -peaks between 2-4 months -Most occur at night -RF: Socioeconomically disadvantaged (continued prone positioning, sharing beds), preterm, low birth wt, recent infection, young maternal age, high maternal parity, maternal tobacco or drug use, and crowded living conditions -MC findings in SUID: Intrathoracic petechiae, mild inflammation/congestion of respiratory tract, findings consistent with chronic hypoxia prior to death -Tx + prevention: -Back to Sleep initiative -> 60% decline in SIDS since 1990 -Supine positioning -Sleep in parents’ room, but on a separate surface for 1st 6mo -Remove soft objects/loose bedding, stuffed animals, or wedge positioners -Breastfeeding is recommended -Pacifier at naptime and bedtime -no smoking during pregnancy and after birth -Avoid car seats, swings, and baby slings for sleep -Avoid use of adult beds and bed rails (increases risk of suffocation)

Answer 4

-Episodes of uncontrollable crying in healthy infant -Paroxysmal, characterized by facial grimacing, leg flexion, and passing flatus -Wessel rule of 3s: -Crying for > 3 hours/day -At least 3 days/week -> 3 weeks -Etiology: Unknown -Cow’s milk intolerance -Change in fecal flora -Increase in serotonin secretion -Poor feeding technique -Maternal smoking may be assoc -Tx: -Dr. Harvey Karp’s “5 Ss”: -Swaddling -Side/stomach holding -Soothing noises -Swinging/slow rhythmic movement -Sucking on pacifier -Educating on hunger cues, avoid excessive caffeine and alcohol in nursing mothers, ensuring adequate bottle/nipple flow, and cautioning overfeeding -Effectiveness of dietary changes, herbal supplements, and/or meds very limited -No evidence of long-term effects for patient or parents -Most serious complication -> nonaccidental trauma

Answer 5

-can mimic ear infection -Remedies for pain: -OTC teething gels or liquids that contain benzocaine -Systemic analgesics -Chewing on teething object (distraction) -Eruption Cysts: Localized, red/purple, round, raised, and smooth lesion, resolved with eruption of tooth (NORMAL) -All children 1yo+ should have dental exam by dentist at least annually and cleaning q 6mo -Preventative: Brushing, flossing, concentrated fluoride topical tx (dental varnish) and acrylic sealants on molars -Recommended PCPs apply dental fluoride varnish to infants and children q 3-6mo between 9mo-5yo -Fluoridation of water or fluoride supplements if no fluoridation are important in prevention of caries

Answer 6

-infants + toddlers (<2yo)- rear facing -toddlers + preschool (2-6)- forward facing/harness -school age (6-8)- booster -4ft 9in or 8-12yo -> seat belts

Answer 7

-growth spirt is 1yr after thelarche (tanner stage 3) -menarche at tanner stage 4 -Stage 1- elevation of papilla only -Stage 2- breast bud -> elevation of papilla and breast -Stage 3- increase breast + areola -Stage 4- increase areola + papilla -Stage 5- areola recession -Stage 1- none -Stage 2- straight, along labia -Stage 3- dark, course, curly -Stage 4- adult, no thighs -Stage 5- adult, thighs

Answer 8

-1.5% in teenage girls -F:M- 20:1, familial pattern -Dx Criteria: -Restriction of energy intake relative to requirements leading to low wt for age, sex, physical health, and developmental trajectory -Strong fear of gaining wt or becoming fat, even though underwt -Disturbance in body wt or shape is experienced, undue influence of body wt or shape on self-evaluation, or denial of seriousness of low body wt -1st event - behavioral change in eating or exercise -oversized or excessively tight clothing, fine hair on face and trunk, rough/scaly skin, bradycardia, hypothermia, decreased BMI, erosion of tooth enamel (if emetic episodes with the binge-purge type versus restricting type), and acrocyanosis of hand/feet -Tx and Prognosis: -Multi-disciplinary approach with family-based therapy -voluntary freeding of regular foods, nutritional formula orally, or NG tube -When 80% of normal body wt -> pt given freedom to gain wt at personal pace -3-5% mortality, development of bulimic sx (30%), and persistent anorexia nervosa syndrome (20%)

Answer 9

-5% in female college students (overwt, hx of dieting) -F:M ratio 10:1 -Dx Criteria: -Recurrent episodes of binge-eating, characterized by both: -Eating a larger amount of food than most people would eat in a discrete period of time -lack of control during episode -Recurrent inappropriate compensatory behavior to prevent wt gain (vomiting; laxatives, diuretics, excessive exercise; fasting) -Binge eating and behaviors occur at least 1x week for 3mo -Complications: Metabolic disturbances from excessive vomiting -Tx and Prognosis: -Nutritional, educational, and self-monitoring techniques to increase awareness of maladaptive behavior, followed by efforts to change the eating behavior -May respond to anti-depressants -Attempted suicide and completed suicide (5%)

Answer 10

-Home -Education -Alcohol -Drugs -Diet -Sex -Suicide -15-17yo is high risk behavior

Answer 11

-Caput Succedaneum: -Diffuse, edematous, dark swelling of soft tissue of scalp -boggy -extends across midline and suture lines -Often following prolonged labor -over the periosteum -> free flowing -Cephalohematoma: -Subperiosteal hemorrhage -does not cross suture lines -May organize, calcify, and form a central depression -tx- -observe- they will absorb

Answer 12

-Phrenic nerve palsy: C3-5- diaphragmatic paralysis/respiratory distress -Erb-Duchenne paralysis: C5-6 injury -Cant abduct arm at shoulder, externally rotate arm, or supinate forearm -Klumpke paralysis: C7-C8, T1– -Paralyzed hand with ipsilateral Horner syndrome, claw hand -Tx: Supportive, active/passive ROM exercises, nerve grafting

Answer 13

-1st day: PATHOLOGIC -> can be unconjugated or conjugated (MC) -usually hemolysis, internal hemorrhage, or infection -2-3 days after birth- PHYSIOLOGIC (dx of exclusion) -> Increased RBC mass, shortened RBC lifespan, hepatic immaturity -indirect, unconjugated -Peak, indirect bilirubin level of < 12 mg/dL on day 3 of life -> 2wks: PATHOLOGIC -> direct hyperbilirubinemia -Physical signs: Observed when bilirubin reaches 5-10 mg/dL -Labs: Total bilirubin (possible breakdown), blood typing, Coombs test, CBC, blood smear, and reticulocyte count -Breast-feeding jaundice (1st few days) -> decreased fluid intake -Breast Milk Jaundice (1wk-2wk) -> milk may contain inhibitor of bilirubin conjugation or may increase enterohepatic recirculation of bilirubin -kernicterus spectrum disorder (bilirubin encephalopathy): -Earliest sx (4 days of life): Lethargy, hypotonia, irritability, poor Moro response, poor feeding -Late sx: Bulging fontanel, pulmonary hemorrhage, fever, hypertonicity, paralysis of upward gaze, seizures -Crigler-Najjar Syndrome: Serious, rare, autosomal recessive, permanent deficiency of glucoronosyl transferase (conjugation enzyme) -Gilbert Disease: Mutation of glucoronosyl transferase

Answer 14

-INDIRECT HYPERBILIRUBINEMIA: -Phototherapy: Blue/white lights reduce bilirubin -Exchange transfusion -Level of 20 mg/dL of indirect-reacting bilirubin (infants > 2000 grams) -Umbilical venous catheter placed in IVC/umbilical vein/portal system -immediate exchange transfusion if kernicterus spectrum disorder (bilirubin encephalopathy) -> >25 mg/dL -DIRECT/CONJUGATED: -always pathologic -treat the cause -> does NOT respond to phototherapy or exchange transfusion

Answer 15

-after onset of breathing -assoc with insufficiency of surfactant -> prevents atelectasis -Surfactant contributes to lung recoil -ALWAYS THINK THIS FIRST WHEN THERE IS RESPIRATORY DISTRESS -RF: Prematurity, low GA, hx of preterms with RDS, maternal DM, hypothermia, fetal distress, asphyxia, males, 2nd born twin, C-section -Initial sx: Cyanosis, tachypnea, nasal flaring, intercostal/sternal retractions, and GRUNTING (BAD); over 72 hrs - increased distress, hypoxemia -CXR: Ground-glass haze surrounding air-filled bronchi or white-out (severe) -Uncomplicated cases -> spontaneous improvement –> diuresis and marked improvement of edema -Severe cases (edema, apnea, respiratory failure) –> assisted ventilation

Answer 16

-PDA -pulmonary air leaks from ventilation -> distention -> rupture -> interstitial emphysema -> PTX! -retinopathy of prematurity (retrolental fibroplasia)- MCC blinding in VLBW -> vasoconstriction -> vaso-obliteration -bronchopulmonary dysplasia (chronic lung ds): -due to prolonged ventilation and O2 therapy -failure to improve >2wks, need for ventilation/O2 therapy @ 36wks -hypercapnia with compensatory metabolic alkalosis, pulmonary HTN, poor growth, R-sided HF -CXR: Lung opacification -> cyst development = Sponge-like appearance -Tx: -ventilation for several months -Tracheotomy may be indicated (prevent subglottic stenosis) -Dexamethasone

Answer 17

-Short and symmetric -Midline clefts (thyroglossal duct cysts), lateral masses (branchial clefts), cystic hygromas, hemangiomas -Neonatal torticollis!!: Shortening of SCM muscle with fibrous tumor over muscle produces head tilt/abnormal facies -> goes away with PT usually -vision loss in eye thats not working as much -Edema/webbing of neck suggest Turner syndrome -Palpate clavicles for fractures

Answer 18

-TRIAD: -1. Hydrocephalus -2. chorioretinitis -3. diffuse intracerebral/cortical calcifications -small, early-onset jaundice, hepatosplenomegaly, and generalized maculopapular rash -seizures are common -Dx- Serologic testing -Tx- Pyrimethamine (supplement with folic acid) + sulfadiazine, up to 1 year

Answer 19

-TRIAD: -B/L cataracts -sensorineural hearing loss -cardiac defects- PDA, pulmonary artery stenosis -eyes: Cataracts, retinopathy, glaucoma -Neurologic: Behavioral disorders, meningoencephalitis, developmental delay -Dx: Serologic testing; isolation from blood, urine, CSF, throat

Answer 20

-MC congenital infection and leading cause of sensorineural hearing loss, intellectual disability, retinal disease, and cerebral palsy -Microcephaly, thrombocytopenia, hepatosplenomegaly, hepatitis, intracranial calcifications, chorioretinitis, and hearing abnormalities -Dx: Detection of virus in urine or saliva -Tx: Ganciclovir has shown positive effect on hearing loss

Answer 21

-Sx develop 5-10 days of life: Disseminated infection (liver, lungs, possibly CNS) -Dx: Sampling from skin vesicle, NP, eyes, urine, blood, CSF, stool, rectum (PCR) -Treatment: Acyclovir (parenteral)

Answer 22

-Hepatosplenomegaly, snuffles, lymphadenopathy, mucocutaneous lesions, osteochondritis, rash, hemolytic anemia, and thrombocytopenia -Later sx in untreated: -!Hutchinson triad! - Interstitial keratitis, CN VIII deafness, Hutchinson teeth -Bowing of the shins, frontal bossing, mulberry molars, saddle nose, rhagades (skin cracks), and Clutton joints -CXR- >90% abnormal long bones consistent with osteochondritis/perichondritis -Dx: -Dark-field exam of direct fluorescent antibody staining of organisms obtained by scraping of a skin or mucous membrane lesion -Serologic testing (VDRL/RPR) -CSF should be examined as well -Increased WBC count + protein concentration suggest neurosyphilis -+ CSF VDRL is dx -Tx: -Penicillin (parenteral) x 10-14 days -repeat titers at 3, 6, 12, months (neurosyphilis q 6 months x 3 years)

Answer 23

-HERPES: -Sx- 5-10 days of life: Disseminated infection (liver, lungs, possibly CNS) -Dx: Sampling from skin vesicle, NP, eyes, urine, blood, CSF, stool, rectum (PCR) -TX: Acyclovir (parenteral) -ZIKA: -arthropod-borne via mosquitos -transmitted to fetal brain -> craniofacial abnormalities, pulmonary hypoplasia, contractures -microcephaly, cerebellar hypoplasia, ventriculomegaly, lessencephaly -GONORRHEA: -MC infection of eyes- ophthalmia neonatorum (1st 5 days) -hyperacute onset of mucopurulent conjunctivitis -TX: IM ceftriaxone x 1 -CHLAMYDIA: -MC site is nasopharynx; conjunctivitis, PNA -conjunctivitis- 1-2wks, mucopurulent -Dx- culture discharge, Giemsa staining of conjunctival scraping is dx, PCR -Tx- Azithromycin (PO) x 3days or erythromycin x 14 days

Answer 24

-1:700 newborns -facial features and generalized hypotonia -Newborn: feeding problems, constipation, prolonged physiologic jaundice, and transient blood count abnormalities -Childhood: thyroid dysfunction, visual issues, hearing loss, OSA, celiac disease, and atlanto-occiptal instability -Increased incidence of transient myeloproliferative disorder and leukemia!! -Facies: Upslanting palpebral fissures, flat nasal bridge, epicanthal folds, midface hypoplasia, flattened occiput -Minor limb abnormalities -Generalized HYPOTONIA!! -up to 50% have CHD (septal defects)- VSD -GI: Esophageal/duodenal atresias

Answer 25

-1:2500 females -95% are miscarried -Caused by missing X chromosome or structurally abnormal X chromosome (only a single functional copy of X chromosome) in females -Short, webbed neck; edema of hands/feet, triangular facies -Older females: Short stature, shield chest with wide-set nipples, mixed conductive/SN hearing loss, horseshoe kidneys, streak ovaries, amenorrhea, absence of development of secondary sex characteristics, infertility -Cardiac anomalies: Coarctation of the aorta, bicuspid aortic valve (newborn), aortic root dilatation (adults) -Learning disabilities common, secondary to difficulties in perceptual motor integration -Tx: -Hormonal therapy (GH, estrogen/progesterone) -surgical intervention (cardiac anomalies) -speech therapy/academic support

Answer 26

-1:1000 in males -rarely causes spontaneous abortions -After puberty: Small testes, gynecomastia, diminished facial/body hair, tall/eunuchoid build, decreased muscle mass -IQ borderline-normal -Extra X chromosome > decreased testicular growth > low testosterone > delayed/absent/incomplete puberty, azoospermia, and infertility -Tx: Testosterone replacement