Pediatrics section within UW Flashcards
Gold standard for duchenne diagnosis?
Genetic testing. Shows deletion of dystrophin gene: Xp21
Onset of Duchene vs Becker
Duchene by 2-3 years old, Becker 5-15 years old.
What enzyme levels are reaised in DMD?
Serum creatine phosphokinase and aldolase
Treatment for subluxation of radial head
Hyperpronation of forearm, supination of forearm and flexion of the elbow.
What is the first and second most common posterior fossa tumor?
1) cerebellar astrocytoma 2) medullobastoma (cerebellar vermis)
Posterior vermis syndrome is characterized by?
Truncal and gait ataxia
Lesch Nyan syndrome secondary to deficiency in?
hypoxanthine-guanine phosphoribosyl transferase (HPRT). X linked recessive disorder. Enzyme is involved with purine metabolism.
Sx of Lesch Nyan
First appears at 6 months w/ vomiting and dystonia. Then progressive mental retardation, choreoathetosis, spasticity, dysarthric speech, dystonia, self injury. Xs uric acid builds up leading to gouty arthritis, tophus formation and obstructive nephropathy
IF you see a boy with gout, suspect?
Lesch Nyan (usually gouty arhritis manifests when you’re 50 )
Marfan mutation of what gene
fibrillin 1 gene
What vitamin has shown to improve morbidity and mortality in measles
Vitamin A. through immune enhancement as well as regeneration of GI and respiratory eptihelium
Alpha adrenergic and beta adrenergic effects of epinephrine for asthma?
Alpha 1 adrenergic: vasoconstriction - increases blood pressure and decreases upper airway edema, reduces bronchial secretions, and mucosal edema. Beta 2 adrenergic: promotes smooth muscle relaxation, decreases systemic release of inflammatory mediators. These are effects of epinephrine.
In cases of croup, you should administer what before considering intubation?
Racemic epiphephrine. Reduces need for intubation
Metanephros is embryologic precursor for ?
Renal parenchyma
Wilms tumor arises from which embryogenic structure?
Metanephros
Three most common pediatric cancers?
Leukemia, CNS and neuroblastoma (TN says leukemia, CNS and lymphomas)
Neuroblastomas arise from which embryonic structure?
Neural crest cells => precursor of adrenal medulla and sympathetic chains
Most common location of neuroblastoma
Abdomen = adrenals or retroperitoneal ganglia
For neuroblastoma what can be seen on CT scan and plain x-ray
calcifications and hemorrhages
For neuroblastoma levels of what are elevated in serum and urine?
catecholamines and their metabolites (HVA and VMA)
Mesoneprhos
seminal vesicles, epidiydmis, ejaculatory ducts, and ductus deferens
Wilms tumor aka
Nephroblastoma
Freidrich Ataxia?
A/R condition. Parents should get genetic counseling for prenatal diagnosis with affected child.
Ppt of epiglotitis. Most concerning complication?
Rapid progression, drooling, sore throat, dysphagia, airway obstruction is most concerning complication.
Sudden LOC, disorientation, slow gain of consciousness?
Seizure
Post ictal paralysis aka
Todd’s paralysis
Todd’s paralysis
Post ictal condition that improves with restoration of motor function within 24 hours
What is micrognathia
Undersized jaw
Symptoms of Digeorge syndrome
CATCH 22. Cardiac anomalies (conotruncal defects, cyanotic CHD), Abnormal facies such as micrognathia and low set ears, Thymic hypoplasia (immunodeficiency, lymphopenia causing susceptibility to viral and fungal infections, poor T cell help could affect B cells and bacterial infections also), Cognitive impariment, Hypoparathyroid/hypocalcemia
Digeorge ngenetic abnormality?
Microdeltion of 22q.11
Recurrent infections starting at 6 months of age. Suspect?
Genetic defect in b cell maturation. At 6 months, maternal antibodies drop.
genetic defect in B cell maturation results in body inability to
Fight encapsulated organisms like Strep pneumo and h. influenza. Also lacks IgA and can’t fight giardia well.
Underlying genetic defect in SCID
adenosine deaminase deficiency.
Gold standard for CF?
Sweat testing by Pilocarpine iontophoresis. Pilocarpine is a cholinergic drug that induces sweating. 2 separate tests that show greater than 60mmol/L confirms dx.
Hallmark features of CF?
Failure to thrive, oily stools, recurrent respiratory infections. Defective chloride transport always involves respiratory tract, sinuses and pancreas.
Common hip disorder seen in overweight adolescents
Slipped capital femoral epiphysis
Gold standard treatment for slipped capital femoraph epiphsysis
immediate surgical screw fixation
Hyper IgM syndrome caused by?
Defect in CD40 ligand on Th2 cells, therefore can’t stimulate B cells to undergo immunoglobulin switch from B to others
Hyper IgM characterized by?
High IgM, low IgA and IgG and normal lymphocyte populations
Defects in humoral immune system manifested by?
Recurrent or severe sinopulmonary infections
Polycythemia can occur in SGA babies because?
increased RBC production in response to fetal hypoxia
Treatment of clubfoot should be treated immediately
Immediately
Hemophilic arthropathy?
Permanent joint disease due to long term consequences of hemarthrosis
Pathophysiology of hemophilic arthropathy?
iron/hemosiderin deposition leading to synovitis and fibrosis
Typical presentation of glucose 6 phosphatase deficiency
3-4 month old, hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, doll like face (Fat cheeks), thin extremities, short and big stomach due to hepatomegaly and big kidneys. Can also have seizures
Children that present with nocturnal vulvar itching should be examined for?
Pinworms and started on mebendazole
In prepubertal females, pinworm infection can present as?
Vulvovaginitis
Neonates that get chlamydia from mom can present with
Pneumonia (presents at 4-12 weeks with staccato cough) or conjunctivitis
Treatment for neonatal chlymadial conjunctivitis? Timeline (presents when)? Clinical ppt?
Oral erythromycin. Presents 5-14 days of life. Eyelid swelling, chemosis, and watery or mucopurulent discharge. blood tinged discharge is highly characteristic.
Topical erythromycin in neonates is good for?
prophylaxis against gonococcoal conjunctivitis and tx for other causes of bacterial conjunctivitis. DOES NOT PREVENT OR TREAT CHLAMYDIA. ORAL erythromycin is treatment of choice (oral not topical)
Tx for gonococcal conjunctivitis/presents when/clinical ppt?
aka ophthalmia neonatorum. IV or IM cefotaxime or ceftriaxone / 2-5 days / clinical ppt: marked eye swelling, profuse purulent discharge, corneal edema/ulceration (this is dangerous)
Myotonic muscular dystrophy - genetics?
A/D
Myotonic muscular dystrophy presentation
delayed muscle relaxation - grip myotonia, facial weakness, foot drop, dysphagia, and cardiac conduction anomalies. Cataracts, testicular atrophy, baldness
Newborns infected with chylamydia may present with
Conjunctivitis and pneumonia
Newborns infected with herpes present with?
Disseminated form of infection, localized CNS disease, localinzed infection of the skin, mouth and eyes
What is procalcitonin
acute phase reactant similar to CRP that is released in response to bacterial toxins
Sudden onset respiratory distress, no preceding illness, and focal findings on pulmonary exam in suggestive of?
Foreign body aspiration
Are chest x rays helpful in FBA?
Limited because object can be radiolucent
What is the treatment/mgmt for suspected foreign body aspiration?
Immediate bronchoscopy
B2 aka
Riboflavin
B2 found in
Meat, dairy, eggs, and green leafy vegetables
PPT of B2 deficiency?
Angular cheilosis, stomatitis, glossitis, normocytic normochromic anemia, seborrheic dermatitis
What is chemical conjunctivitis In neonate?
occurs in first day of life when silver nitrate is used to prevent neonatal bacterial conjunctivitis
Neonatal abstinence syndrome is caused by?
Withdrawal from opioids
Neonatal abstinence syndrome characterized by?
High pitched cry, sweating, poor feeding, irritability, tremors, seizures, tachypnea, poor feeding, vomiting, diarrhea.
Manifestation of leukocyte adhesion deficiency type 1
Absence of pus formation at infection sites, delayed cord separation (>30 days), poor wound healing, recurrent skin and mucosal bacterial infections, periodontitis, often necrotizing
What is leukocyte adhesion defieincy?
basically neutrophils can get out of vasculature and go to infection sites because they lack CD18, an essential component of integrins present on the surface of leukocytes
Lab results of leukocyte adhesion deficiency
Leukocytosis with neutrophil predominance. Cultures show staph aureus and gram neg bacilli, biopsy of infected tissue shows ifnlammatory infiltrate with no neutrophils
Rib notching is a specific finding for what kind of cardiac deformity?
Coarctation of the aorta. Caused by the dilation of the collateral chest wall vessels that forms between the hypertensive and hypoperfused blood vessels.
Classic triad of congenital toxoplasmosis
Chorioretinitis, hydrocephalus, intracranial calcifications
Classic triad of congnietal rubella
Sensoneuronal deafness, cataracts and congenital glaucoma, cardiac defects (PDA, ASD)
Patient with pancytopenia following drug intake, viral infection, or toxins?
Suspect aplastic anemia.
Presentation of SCID
Recurrent sinopulmonary infections, oral candidiasis, diarrhea, opportunisitc and viral infections
SCID diagnostic clinical features
Absent thymic shadow, absent lympho nodes and tonsils, lymphopenia, abnormal T, B1 and NK cells.
What is hypertelorism
Abnormally increased distance between two body parts.
5p deletion is what?
Cri du chat syndrome
Clinical ppt of cri du chat syndrome
cry of the cat, hypotonia, short stature, microcephaly with protruding metopic suture, hypertelorism, bilateral epicathanl folds, high arched plate, wide and flat nasal bridges
Trisomy 18 aka
Edwards syndrome
Trisomy 13 aka
Patau syndrome
Classic presentation for edwards syndrome
closed fists with 5th over 4th and index over 3rd, microcephaly, prominent occiput, micrognathia, and rocker bottom feet
Classic manifestation of HSP
Nonblanching purpura, renal involvement, GI involvement, and arthralgias/arthritis
Intususseption on U/S diagnosed by?
target sign on U/S
Risk of HSP?
GI stuff like hemorrhage or intususseption
CHARGE syndrome?
coloboma, heart defects, atresia of the choanae, renal anomalies, growth impairment, ear abnormalities/deafness
What is choanal atresia?
congenital nasal malformation = failure of the posterior nasal passage to fully canalize. CT scan shows narrowing at the pterygoid plate in posterior nasal cavity.
Clinical ppt of choanal atresia
well appearing child with intermittent cyanosis and distress when feeding that is relieved with crying.
Severe coughing paraoxysms can cause?
subcutaneous emphysema and even pneumothorax. Air leaks from the chest wall into subcutaneous tissues due to high intraalveolar pressure. Order chest x ray to rule out pneumothorax
Congenital lymphedema occurs due to
Abnormal development of lymphatic system. Leads to accumulation of protein rich interstitial fluid in the hands, feet and neck (Webbed neck in turner syndrome). This kind of lymphedema is non-pitting.
chronic granulomatous disease should be suspected in what kind of presentation?
Continuous infection by catalase positive organisms, unexplained infection with serratia marascens, aspergillus, burkholderia cepacia
chronic granulomatous disease due to?
Deficiency in NADPH oxidase, leading to recurrent infections with catalase positive organisms
Dx of chronic granulomatous disease is by
Nitroblue tetrazolium slide test, flow cytometry, cytochrome C oxidation
Common complication of sickle cell: right hip pain, gradual, restriction of abduction and internal rotation
Aseptic necrosis of the femoral head due to occlusion of end arteries supplying femoral head, bone necrosis, and eventual collapse of periarticular bone and cartilage
Genu varum
Outward bowing of legs
Cephalohematoma
Subperiosteal hemorrhage, no discoloration of overlying scalp, takes a few hours to develop because it’s a slow process. Doesn’t cross suture lines. Most cases resorb spontaneously within 2 weeks - 3 months.
Caput succadeneum
diffuse, sometimes echymotic swelling of the scalp. May extend across midline and cross suture lines
Erb duchenne palsy aka? What nerves get affected?
Waiters tip. Extended elbox, pronated forearm, flexed wrists and fingers, intact grasp reflexes. C5 and C6
Shoulder dystocia compliations
Fractured clavicle, fractured humerus, erb-duchenne palsy, Klumpke palsy
Klumpke palsy aka? What nerves can be affected and what ensues if this is the case?
Claw hand. C8 and T1. you can get horners sydnrome.
Pathognominic facial features for in utero exposure to alcohol
Small palpebral fissures, thin lip, smooth filtrum. Also microcephaly
Key physical findings for Fragile X and Downs syndroem
Fragile X: macroorchidism, long narrow face, prominent forehead and chin, large ears, macrocephay. Downs syndrome: low set ears, upslanting palpebral fissures, flat facial profile, may have increased neck skin, single transverse palmar crease, clinodactyly, large space between first two toes.
Double bubble on xray
Duodenal atresia
Triple bubble and gasless colon on xray
Jejunal atresia
Distended loops of bowel on xray
Hirschsprung
Hallmark finding on x ray of NEC?
Pneumatosis intestinalis (extravasation of gas into damaged bowel wall)
Jejunal atresia is due to?
Thought to occur due to vascular accident in utero that causes necrosis and resorption of the fetal intestine, sealing off and leaving behind blind proximal and distal ends of the intestine
In contrast to duodenal atresia, jejunal and ileal atresia are not a/w?
Chromosomal abnormalities
Risk factors for jejunal atresia
Cocaine and other vasoconstrive events/drugs
Confirmatory tests for SLE?
Anti smith antibodies and anti dsDNA antibodies
Coomb’s test is dx test for?
Autoimmune hemolytic anemia
What test is more specific for diagnosis of syphilis?
FTA (fluorescent treponemal antibody test)
Next step for battery lodged in esophagus and why?
Immediate endoscopic removal to prevent esophageal ulceration and mucosal damage. If beyond that, usually observe and or follow up with X ray and see if it passes uneventfully.
Risk factors for shoulder dystonia
Maternal diabetes resulting in fetal macrosomia
Risk factors for neonatal displaced clavicular fracture
fetal macrosomia (maternal GD, post-term pregnancy), instrumental delivery (vacuum, forceps), shoulder dystocia
Triad of hemolytic uremic syndrome? PPT?
Acute renal failure, hemolytic anemia and thrombocytopenia. Suspect in patient who shows up with abdominal pain and diarrhea, followed by bloody diarrhea
HUS due to?
E coli O157:H7 toxin or shiga toxin (for majority cases. Can also be due to strep pneumo, viruses or drugs)
Pathophysiology of HUS?
Toxin binds, invades and destroys colonic epithelial cells, causes bloody diarrhea. Toxin enters systemic circulation, attaches and injures endothelial cells especially in kidney, and also releases endothelial cell products including platelet aggregating factor. Forms platelet/fibrin thrombi in multiple organs causing thrombocytopenia. RBCs are forced to enter occluded vesses resulting in fragmented RBCs and removed by the reticuloendothelial system (hemolytic anemia).
What is opisthotonos
Spasm of muscle causing backward arching of the head, neck and spine.
Neonatal tetanus is generally seen in what situations
Babies born to unimmunized mothers, following umbilical cord/stump infection.
Neonatal tetanus presents how?
Poor suckling and fatigue, followed by ridigity spasms and opisthotonos
Most common heart disease in Edwards syndrome? (Trisomy 18)
VSD
Galactosemia presentation
Failure to thrive, poor feeding, jaundice, hepatosplenomegaly, cataracts
Galactosemia?
a/R deficiency in galactose 1 phosphate uridyltransferase, leading to inability to process lactose/galactose.
Galactosemia treatment?
Elimination of galactose in diet. Most infants fed soy diet.
B1 aka
Thiamine
B3 aka
Niacin
B6 aka
Pyrodixine
B9 aka
Folate, folic acid
B12 aka
Cobalamin
What race boys are increased risk for fetal macrosomia (>4 kg)
Black boys
What is the tx and prognosis for Erb-Duchenne palsy from shoulder dystocia?
Tx: gentle massage and PT to prevent contractures. Prognosis depends on extent of nerve damange (C5, C6 and maybe C7 in Erb duchenne). Up to 80% of patients have spontaneous recovery within 3 months. If no improvement by 3-6 months, consider surgery
Upper motor neuron signs
Hyperreflexia, babinski, leg spasticity
Atlantoaxial instability presentation?
Sx occur due to compression of the spinal cord. Behavioral changes, torticollis, urinary incontinence, vertebrobasilar sx such as dizziness, vertigo and diplopia. UMN signs such as babinski, leg spasticity, hyperreflexia
Classic ppt of craniopharyngioma
Symptoms of ICP (headaches, vomiting), calcified lesion above the sella, bitemporal hemianopsia, presence of calcified parasellar lesion on MRI is almost pathognominic
Common associations with celiac disease?
Type 1 diabetes, dermatitis herpetiformis, poor absorption = iron deficient anemia
Diagnostic tests for celiac disease?
IgA anti-tissue transglutaminase antibody assay, upper GI endoscopy with small intestinal biopsy
Acute stroke syndrome after foreign body injury to soft palate likely due to?
Internal carotid artery compression (causes thrombosis that embolizes to brain and causes stroke) or dissection of internal carotid artery that causes ischemic stroke.
Solitary, painful, lytic long bone lesion with overlying swelling and hypercalcemia differential?
Langerhans cell histiocytosis and other neoplastic processes
Freidrich Ataxia ppt
1) neurologic (dysarthria, ataxia) 2) skeletal (scoliosis, foot deformities like hammer toes) 3) cardiac (concentric hypertorphic myopathy)
Most common causes of death
Cardiac and respiratory
In esophageal atresia with TEF, what does x ray show in terms of the naso gastric tube or oro gastric tube
tube will be in proximal esophageal pouch and can’t go any further
If newborn chokes and coughs during first feeding, suspect?
Esophageal atreasia with TEF
Kids with esophageal atresia with TEF can develop what lung disease?
Aspiration pneumonia. Gastric fluid refluxes through distal esophagus into fistula into trachea and lungs
2 year olds and 3 year olds should build a tower of how many cubes
6 cubes and 9 cubes, respectively
Spirochete responsible for lyme disease
Borrelia burgdorferi from the ixodes tick
Breastfed infants are at decreased risk for
Otitis media, Gastroenteritis, respiratory illnesses, urinary tract infections and necrotizing enterocolitis
Contraindications to breastfeeding (on infant side)
galactosemia
immunofluorescence will show what in HSP?
IgA deposition in the mesangium
Herpangina clinical ppt
High fever and sore throat that may result in inability to swallow, sometimes necessitates IV hydration
Herpangina is caused by?
Throat infection caused by enteroviruses, especially coxsackie A
Risk factors for vitamin D deficiency
Darker skin, no sunlight exposure, breast fed babies
PPT of vit d deficiency
Genu varum, rachitic rosary, cupping and fraying of metaphyses, craniotabes
Indirect hyperbilirubinemia in the newborn is due to?
Increased bilirubin production, decreased bilirubin clearance, and increased enterohepatic recycling
Spondylolisthesis
development disorder caused by slipped forward vertebrae (usually L5 over S1). Results in chronic back pain and neurologic dysfunction.
spondylolisthesis ppt
back pain, neurologic dysfunction and step off at lumbosacral area
Which primitive reflex can persist in healthy children up to 2 years of age?
Babinski. May disappear in some by 12 months but can persisit till 2 years
Development dysplasia of the hip should be checked for by what maneuvers?
Barlow and Ortolani maneuvers.
TOC for babies 6 months and below for DDH?
Pavlik harness that keeps hips flexed and kneeds abducted.
Indication for ultrasonography or x ray after barlow and ortolani test?
If negative tests but these findings: Soft click, or leg length discrepancy or extended inguinal fold should promot ultrasound in less than 6 months and x ray in greater than (4 or greater than 6 months of age.)
Positive barlow and ortolani tests, next step?
Refer to peds ortho
What supplementation should be given to preterm infants
Iron, till 1 year of age
Alternative to venous catheterization in case of emergencies
Intraosseous cannulation. Preference for tibia since it’s away from cardiac site incase rescuscitation needs to take place.
Thymus on X-ray of kid below 3 years of age
TRIANGULAR SHAPE ON THE RIGHT. RECOGNIZE IT. Referred to as the sail, has scalloped border and uniform density
LOCATION Of thymus
In anterior mediastinum, behind the sternum and in front of the heart, aortic arch and trachea
What happens to thymus at puberty
Thymus is usually replaced by fat after puberty, after production of T lymphocytes. Adults with mediastinal opacities should undergo further workup for pathology. Residual thymic tissue can undergo malignant transformation
Infants and kids >1 year and adults have cardiothoractic ratios of?
Classic triad of Kartageners
Recurrent sinuisits, bronchiectasis, and dextracardia
Primary issue in Kartageners
Cilia dysmotility. A/R condition
Remember that hearing impairment can look like developmental and behavioral disorders.
Remember that ADHD does not have social isolation or language developmental delays and that autism signs genearlly show up before 3 years of age.
Clinical ppt of measles
cough, conjunctivitis, coryza (inflammation of membranes lining the noise) and KOPLCK SPOTS ARE PATHOGNOMONIC
Dx of measles
Acute and convalescent serology of anti-measles IgM and IgG, polymerase chain reaction
Rubella vs Measles rash
Both spread cepahlo-caudally but the measles rash darkens whereas the rubella one doesn’t
What is the most common anemia in premature and low birth weight infants?
Anemia of prematurity
Ppt of anemia of prematurity
Poor feeding, poor weight loss, tachypnea, tachycardia, pallor
Pathology of anemia of prematurity
Decreased RBC production, blood loss, and shortened RBC life span.
What does iron supplementation do in anemia of prematurity
It doesn’t help the anemia right now because iron deficiency is not the cause of the anemia but it Is given so that there are stores for later erythropoeisis.
Immediate steps in patient with CDH?
Intubation and placement of gastric tube to prevent distention of bowel against the lungs/decompression the stomach and bowel.
Conjugated hyperbilirubinemia and hepatomegaly in neonate should raise suspicion for?
Biliary atresia
First step in evaluation of biliary atresia? What does it show?
Ultrasound. Absent or abnormal gallbladder
Treatment for biliary atresia
Kasai procedure (hepatoportoenterostomy) and liver transplant
Presentation of biliary atresia
Conjugated hyperbilirubinemia, pale stools, dark urine, hepatomegaly, jaundice. Initially well appearing but starts developing symptoms in 1-8 weeks.
In older children with recurrent intussusecption, what should be suspected?
Pathological lead point like Meckel’s diverticulum
Leukocoria is what unless proven otherwise
Retinoblastoma. Refer to ophthalmologist
What are contraindicaitons to breastfeeding on moms side
Active substance use, chemo/radiation therapy, herpetic breast lesions, active untreated TB (they can breastfeed after 2 weeks of initiation of TB therapy), materinal hiv infection in developed countries, varicella infection
Acute otitis media characteristics?
Middle ear effusion and signs of eardrum inflammation. Fluid in the middle ear space limits eardrum mobility on pneumatic insufflation. Bulging eardrum most specific sign of eardrum inflammation.
Intraventricular hemorrhage is most commonly seen in?
Premature or low birth weight babies
Presentation of intraventricular hemorrhage babies?
Pallor, cyanosis, hypotension, seizures, focal neurologic signs, bulging or tense fontanel, apnea and bradycardia. However may be asymptomatic so newborns with predisposing factors need fontanel U/S
Incidence of IVH is inversely proportional to?
Inv proportional to birth weight
Applying silver nitrate to the eyes of newborn
Neonatal gonococcal opthalmia prevention
Fragile X phenotype
Prominent jaw, forehead, and nasal bridge with long and thing face, large protuberant ears, macroorchidism, hyperextensibility, high arched palate. Mild to moderate mental retardation, especially in boys
How does squatting improve TOF cyanosis?
Increases systemic resistance, decreases the right to left shunt and increases outflow through the pulmonary artery
What is metatarsus adductus
congenital foot deformity. There are 3 grades. First grade, overcorrects in abducted position. This one corrects spontaneously. Just reassurance to parents
what is waterhouse friedrichson syndrome. When can it present?
Fulminant vasomotor collapse and skin rash (large purpuric lesions on flank). Watch out for it in Waterhouse Friedrichson Syndrome.
Most common offending pathogens for AOM?
Bacterial - S. pnemoniae (25-40%), untypable Haemophilis influenzae (10-30%), Moraxella catarrhalis (5-15%)
Tx for AOM?
Empiric amoxicilin tid x 10days, second line amoxicillin-clavulanic acid x10day
RF for AOM?
cigarette smoke, allergic rhinitis, URI, craniofacial abnormalities, chronic middle ear effusion
Phenytoin side effects
Cardiac defects: VAPAC (VSD, ASD, PS, AS, coarctation), craniofacial anomalies, fingernail hypoplasia, growth deficiency, developmental delay, facial clefts
APGAR Scoring system. What score requires resuscitation
If under 7 may require resuscitation.
APGAR
Appearance, Pulse, Grimace, Activity, Respiratory Effort. Appearance: 0 -blue/pale 1 - Acrocyanosis 2 - pink all over; Pulse (Heart rate) - 0 - Absent 1 - 100 bpms; Grimace (Irritability): 0 - No response 1 -grimace 2 - cough/cry; Activity (tone): 0 - limp 1 - some flexion of extremities 2- active motion; Respiratory effort: 0 - absent 1 - slow, irregular 2 - good, crying.
In peds, locations of the most common CNS tumors?
60% infratentorial (cerebellum, midbrain, brainstem), 25% supratentorial
Most common CNS tumor histology
Astrocytomas for both infra and supra-tentorial.
Treatment for Kawasaki disease?
Aspirin and IVIG
Most serious complicaitons of Kawasaki
Coronary aneurysms, MI, and death
Presentation of cholesteotoma
Continued ear drainage despite abx. Leads to formation of retraction pocket in tympanic membrane that can be filled with granulation tissue and skin debris.
Most common cause of hip pain in children
Transient synovitis
How is transient synovitis treated?
Rest and ibuprofen. Usually no lab abnormalities
Bilateral hip xrays should be obtained in transient hip synovitis for?
Legg calve perthe disease.
What is legg-calves-perthes disease?
Characterized by insidious onset of hip or knee pain. Avascular necorosis of the femoral head. Classically affects males 4-10.
What happens in PKU?
Phenylalanine hydroxylase deficiency prevents conversion of phenylalanine to tyrosine leading to buildup of toxic metabolites that cause neurologic injury.
PKU presentation
Hypopigmentation (fair skin), seizures, mental retardation, eczema, mousy odor
Dx of PKU
Newborn screening (Tandem mass spectrometry) or if done later, quantitative amino acid analysis.
Treatment for PKU
phenlyalanine free diet, starting within first 10 days of life
Diamond backfan syndrome aka
Congenital hypoplastic anemia
Primary pathology in diamond backfan syndrome
Defect in erythroid progenitor cells leading to increased apopotosis
PPt for diamond backfan syndrome
Pallor. Macrocytic anemia, low retic count and congenital anomalies, short stature (webbed neck, cleft lip, shield trest, triphalangeal thumbs).
Howell Jolly bodies?
Nuclear remnants of RBCs. These are tradiotionally removed by spleen but patient with sickle sell with splenectomy or functional asplenia will have these in peripheral smear
Basophillic stippling
Ribosomal precipitates which appear as blue granules of various sizes. Disperpsed throughout cell cytoplasm. Seen in thalassemia, lead and heavy metal poisoning
Helmet cells
Fragmented RBCs. Can be seen in traumatic hemolytic conditions like DIC, HUS, TTP
Reduction/tx of radial head subluxation
supination with flexion at elbow, or hyperpronation of forearm
Red cell distribution width in iron deficiency anemias and thalassemias
RDW is generally greater than 20% in iron deficiency anemia, 12-14% in thalassemias
