Pediatrics

Question 1

Most common heart defect in Edwards syndrome (trisomy 18)

Answer 1

VSD

Question 2

Cya optic baby with decrease pulm markings on CXR and left axis deviation on EKG

Answer 2

Tricuspid atresia. Normal babies have a right axis deviation because right heart is larger than left heart in new born

Question 3

Gastroschisis vs omphacele associated defects

Answer 3

Gastroschisis is usually an isolated defect lateral to the umbilicus with uncovered hernia ting bowel. It requires immediate surgical closure in single stage closure.
Other malformations such as cardiac defects, neural tube defects etc occur in about half do patients with omphalocele. Patients require surgical closure in stage closure with silastic silo

Question 4

Treatment for pin worm (enterobius vermicularis)

Answer 4

Albendazole or pyrantel pamoate

Question 5

Cyanotic heart defects

Which presents with severe cyanosis a few hours after birth.

Answer 5

The five Ts that have right to left shunts

1. Truncus arteriosus = 1 arterial vessel overriding ventricles
2. Transposition of the great vessels = 2 arteries switched
3. Tricuspid atresia = 3
4. Tetralogy of Fallot = 4
5. Total anomalous pulmonary venous return = 5 words

Transposition of the great vessels is the only one the presents a few hours after birth

Question 6

Noncyanotic heart defects

Answer 6

The three D’s

VSD, ASD, PDA

Question 7

Common conditions associated with the VSD

Answer 7

VSD is the most common cause of congenital heart disease.
Apert’s syndrome ( cranial deformities, fusion fingers and toes)
Down syndrome, fetal alcohol syndrome, TORCH syndrome, cri du chat syndrome and trisomy 13 and 18

Question 8

Murmur of VSD

Answer 8

Holosystolic murmur that can be accompanied by systolic thrill crackle hepatomegaly and a narrow S2 with an increased T2 and a mild diastolic apical rambling reflecting increase flow across the mitral valve

Question 9

ASD’s Ostium premium versus ostium secundum

Answer 9

Ostium premium = early childhood; murmur or fatigue with exertion; associated with down syndrome.
Ostium secundum = late childhood or early adulthood

Question 10

Holt Oram syndrome

Answer 10

Absent radii, ASD, first degree heart block. remember this association with ASD

Question 11

When is surgical closure of ASD indicated

Answer 11

90% of defects close spontaneously. Surgical or Catheter closures indicated in infants with CHF and in patients with more than 2:1 ratio of pulmonary to systemic blood flow

Question 12

What heart defects can present with recurrent respiratory infections

Answer 12

VSD, AST, PDA

Question 13

PDA cardiac exam

Answer 13

Continuous machinery murmur at the second left intercostal space at the sternal border. A loud S2, wide pulse pressure, and bounding peripheral pulses

Question 14

PDA closure

Answer 14

Give indomethacin.
come in and close the door

Keep patent with prostaglandin E1

Question 15

Coarctation of the aorta location

Answer 15

Occurs just below the left subclavian artery in 98% of patients

Question 16

Coarctation facts

Answer 16

1. Associated with turner syndrome
2. Coarctation requires a patent PDA for survival.
3. Can present as a shock likr state when the PDA closes a few weeks after life.
4. Can’t present with lower extremity claudication, syncope, epistaxes, and headache

Question 17

Risk factors for transposition of the great vessels

Answer 17

Diabetic mothers and rarely DiGeorge syndrome

Question 18

Most common cyanotic heart disease

Answer 18

Transposition of the great vessels is the most common cyanotic heart disease of newborns
Tetralogy of Fallot is the most common cyanotic heart disease of childhood

Question 19

Tetralogy of Fallot cardiac exam

Answer 19

Systolic ejection murmur at the left upper sternal border (right ventricular outflow obstruction), right ventricular heave, and a single S2

Question 20

What are tet spells and what our treatments

Answer 20

Acute cyanosis seen in children with tetralogy of Fallot.
Improves of placing knees to chest
Medical treatment involves oxygen, propranolol, phenylephrine (increases after load), fluids and morphine

Question 21

Infant growth

Answer 21

Newborns can lose 5 to 10% of body weight in the first week but we did buy the second week
Infants are expected to double their birth weight by 4 to 5 months triple by one year and quadruple by two years

Question 22

Disorders associated with down syndrome

Answer 22

Duodenal atresia, Hirschsprung’s disease and congenital heart disease in infancy.
Increases the risk of acute lymphocytic leukemia (ALL)hypothyroidism, early onset Alzheimer’s

Question 23

Most common congenital cardiac disease in down syndrome

Answer 23

AV Canal malformation

Question 24

Rocker bottom feet, low-set ears, micrognathia, clenched hands (overlapping fourth and fifth digits close), and a prominent occiput

Answer 24

Edwards syndrome trisomy 18 (election)

Question 25

Microcephaly, cleft lip/palate, holoprosencephaly, punched out scalp lesions, polydactyly, Omphacele. Microphthalmia

Answer 25

Pataus syndrome | Focus on the P's

Question 26

Fair hair and skin, eczema, blonde hair, blue eyes and a musty urine odor

Answer 26

Phenylketonuria ; decreased phenylalanine hydroxylase. | Phenylalanine accumulates and tyrosine becomes essential

Question 27

Deficiency of alpha galactosidase A

Answer 27

Fabry disease Leads to the accumulation of ceramide trihexoside in the heart, brain and kidney First sign is severe neuropathic limb pain. Angiokeratoma and telengecticia can be seen on the skin Findings include renal failure and an increase risk of stroke and MI

Question 28

Galactosylceramide deficiency

Answer 28

Krabbe disease Leads to accumulation of galactocerebroside in the brain. Characterized by progressive CNS degeneration, optic atrophy, spasticity, and death within the first three years of life Autosomal recessive

Question 29

Glucocerebrosidase deficiency

Answer 29

Gaucher's disease Leads to the accumulation of glucereboside in the brain, liver, spleen and bone marrow. May present with anemia and thrombocytopenia Gaucher's cells have a characteristic crinkled paper and parents with an large cytoplasm Infantile form results in early rapid neurologic decline. Adult form which is more common is compatible with normal lifespan does not affect the brain

Question 30

Sphingomyelinase deficiency

Answer 30

Niemann pick disease Leads to build up of sphingomyelin cholesterol and reticuloendothelial and parenchymal cells and tissues Presents with cherry red spot and hepatosplenomegaly No man picks his nose with his sphinger

Question 31

Hexosamindase deficiency

Answer 31

Tay-Sachs disease Leads to GM2 ganglioside accumulation Cherry red spots but no hepatosplenomegaly Normal development until 3 to 6 months of age when weakness begins. An. exaggerated startle response maybe seem Tay-saX lacks heXosaminidase

Question 32

Arylsulfatase A deficiency

Answer 32

Meta-chromatic leukodystrophy Accumulation of sulfatide in the brain, kidney, liver and peripheral nerves Demyelination leads to progress ataxia and dementia

Question 33

Alpha L iduronidase deficiency

Answer 33

Hurlers syndrome Leads to corneal cloudy, mental retardation and gargoylism Autosomal recessive

Question 34

Iduronidate sulfate deficiency

Answer 34

Hunters syndrome A milder form of hurler syndrome with no corneal cloudin and mild mental retardation Hunters need to see (no corneal clouding) to aim for the X X-linked recessive

Question 35

Bowel obstruction by age

Answer 35

first month of life = malrotation with volvulus ~3 weeks= Pyloric stenosis 3 months - 3 years of age = intussusception

Question 36

Treatments for intussusception

Answer 36

Air/contrast barium enema. Diagnostic and greater than 95% of cases and cared even greater than 80%

Question 37

Sudden intermittent pain with rectal bleeding and a two-year-old

Answer 37

Think Merkel's diverticulum

Question 38

Definitive diagnosis of Hirschsprung's disease

Answer 38

Rectal biopsy of myenteric(Auerbach) plexus and submucosal (Meissner's) plexus

Question 39

Treatment of malrotation with volvulus

Answer 39

NG tube decompression | Emergency surgical repair when Volvulus is gastric, routine surgery or endoscopy when volvulus is gastric

Question 40

Pneumatosis intestinalis more air in Bowel wall

Answer 40

Pathognomonic for necrotizing enterocolitis in neonates

Question 41

Treatment for IgA deficiency

Answer 41

Do not give IVIG because this may lead to the production of anti-IGA antibodies. Treat infection

Question 42

Progressive cellular ataxia and oculocutaneous telangiectasia

Answer 42

Ataxia-telangiectasia | Caused by DNA repair defect

Question 43

Severe lack of B and Tcells #bubble boy disease

Answer 43

Severe combined immunodeficiency (SCID) | Caused by adenosine deaminase deficiency requires PCP prophylaxis

Question 44

thrombocytopenia, eczema (atopiclike dermatitis), and recurrent pyogenic infections

Answer 44

Wiskott-Aldrich syndrome X-linked recessive High IgE/IgA, low IgM Mnemonic WIPE: WAS; infection, purpura (thrombocytopenic); Eczema

Question 45

Recurrent skin abscesses | Nitroblue tetrazolium test positive

Answer 45

Chronic granulomatous disease Deficient superoxidase production Treat with daily TMP-SMX INF-gamma can reduce the incidence of serious infection

Question 46

Delayed separation of the umbilical cord | Recurrent skin mucosal and Pulmonary infections

Answer 46

Leukocyte adhesion deficiency A defect in the chemotaxis of leukocyte no plus with minimal information and wounds High white blood cell count in blood. Bone marrow transplant is curative

Question 47

Very White baby. Oculocutaneous Albinism, peripheral neuropathy, and neutropenia

Answer 47

Chediak Higashi syndrome Defect in neutrophil chemotaxis/ micro tubule polymerization Giant granules in neutrophils

Question 48

Coarse facies, abscesses, retain primary teeth, hyper IGE (hypereosinophilia), dermatologic (severe eczema)

Answer 48

FATED Job syndrome Defect in neutrophil chemotaxis Recurrent s.aureus infection and abscess

Question 49

Recurrent episodes of angioedema

Answer 49

C1 esterase deficency (hereditary angioedema) Toto hemolytic complement (CH50) to assess the quantity and function of complement Purified C1 esterase and FFP can be use prior to surgery

Question 50

Recurrent neissera infections, meningococcal or gonococcal

Answer 50

Terminal complement deficiency (C5-C9) | Inability to form membrane attack complex (MAC)

Question 51

Crash and burn

Answer 51

Kawasaki | Conjunctivitis, rash, Adenopathy, strawberry tongue, hand and foot, burn (fever greater than 104)

Question 52

DiGeorge syndrome

Answer 52

Catch 22 | Cardiac abnormalities, abnormal faces, thymic aplasia, cleft palate, hypocalcemia, chromosome 22

Question 53

Juvenile idiopathic arthritis serology

Answer 53

ANA +. RF - | Uveitis is common

Question 54

Top three causes of acute otitis media | Treatment

Answer 54

Bacterial: Strep pneumoniae, nontypable H. Influenzae, Moraxella catarrhalis Virus: influenza A, RSV and parainfluenza virus High dose Amoxicillin (Amoxicillin / clav for resistant)

Question 55

Most common cause of bronchiolitis

Answer 55

RSV

Question 56

Cause of croup Presentation Radiologic sign

Answer 56

Parainfluenza virus Barking cough Steeple sign from subglottic narrowing

Question 57

Treatment for severe croup

Answer 57

Nebulizer race mix epinephrine | If failure then intubation

Question 58

Epiglottitis presentation Posturing Radiologic sign

Answer 58

Dysphagia, drooling, high fevers Neck hyperextended and Chin protruding (sniffing dog position) Swollen epiglottis obliterating the vallaculae (his thumb sign) Expected true emergency, intubate early

Question 59

Causes of meningitis in infants versus children

Answer 59

GEL in neonates. GBS, E.coli, listeria SHiN in children: strep pneumonia, H.influ, Nesseiria Treat with ampicillin and cefotaxime (or gentamicin) in the neonates, add acyclovir if concerned for herpes encephalitis Treat with ceftriaxone and vancomycin in children

Question 60

Why avoid ceftriaxone in neonates

Answer 60

Ceftriaxone displaces bilirubin from albumin. Causes increased risk of biliary sledging and kernicterus

Question 61

Cause and treatment for whooping cough

Answer 61

Caused by Bordetella pertussis | Treat with 14 days of erythromycin

Question 62

``` Fifth disease (erythema infectiosum) Presentation in children vs presentation in adults ```

Answer 62

Slapped cheek disease in children. Can develop aplastic crisis (red cell) Arthropathy in children and adults Caused by parvovirus B19

Question 63

Koplik spots

Answer 63

Red spots with central gray speck on buccal mucosa | Measles!

Question 64

Complications of measles

Answer 64

3 Cs Cough, coryza, conjunctivitis Rare subacute sclerosing panencephalitis

Question 65

Rubella versus measles(rubeola)

Answer 65

Children with Rubella often have only a low-grade fever and do not appear ill. Rash appears in spreads in one day in rubella, in measles last longer.

Question 66

Cause of transients tachypnea of the newborn

Answer 66

Retained amniotic fluid results in prominent peri hilar streaking in interlobar fissures resolved O2 administration. Higher incidence in babies with C-sections due to no squeeze of chest during vaginal birth

Question 67

treatment of Lead poisoning by level

Answer 67

70: chelation therapy (inpatient EDTA + BAL [IM dimercaprol])

Question 68

what cell like does neuroblastoma arise from

Answer 68

Neural crest cells

Question 69

What cell like does wilms tumor arise from

Answer 69

metanephros (embryonic precursor to renal parenchymal)

Question 70

Imaging in pediatric bacterial meningitic

Answer 70

Low risk of herniation in children who are not comatose. | Administer abx then lumbar puncture

Question 71

children with a family history of migranes comes in with idopathic episodes of nausea and vomitting once a month

Answer 71

suspect cyclic vomiting syndrome due to abdominal migrane

Question 72

treament for unilateral cervical lymphadenitis

Answer 72

Incision and drainage | Clindamycin (coverage for staph and strep; amoxicillin has no staph coverage and thus is inappropriate)

Question 73

Jaundice, light colored stools and hepatomegaly that begins a few weeks after birth.

Answer 73

Biliary atresia. | New borns are initially well but develop conjugated hyperbilirubinemia

Question 74

Gilbert vs Crigler Najjar syndrome

Answer 74

Both result in unconjugated hyperbilirubinemia caused by UDP-glucuronl transferase deficiency. Gilbert's is the less severe form (enzyme deficiency). C-N is more severe (absent enzyme)

Question 75

Location of medulloblastoma

Answer 75

cerebellar vermis

Question 76

Left axis deviation in neonate ad small or absent R wave in precordial leads

Answer 76

Tricuspid atresia. Lack of communication between R atria and R ventricle leads to hypoplastic right ventricle. thus no rigth axis deviation on ECG. Association with ASD or VSD is necessary for survival (thus VSD systolic murmur or ASD fixed split may be heard)

Question 77

An adolescent with nasal obstruction, visible nasal mass and frequent epitaxis. Has evidence of adjacent cartilage erosion

Answer 77

Angiofibroma

Question 78

Congenital cmv vs rubella

Answer 78

Rubella is bilateral deafness vs unilateral deafness; blindness on CMV is from chorioretinitis vs cataracts in rubella

Question 79

Neonatal vaccination time

Answer 79

Vaccinations should be given according to chronological age not gestational age. Hep B vaccine should be given at birth (unless

Question 80

Precocious puberty, cafe au lait spots, and bony abnormalities

Answer 80

McCune Albright syndrome | The 3 Ps pigmentation (cafe au lait), precocious puberty, polyostotic fibrous dysplasia

Question 81

Non blanching skin rash on lower extremities after URI or GI bug. Extensive deposition of IgA in skin rash (on biopsy).

Answer 81

Henoch schonlein purpura which is a leukocytoclastic vasculitis.

Question 82

Inspiratory strider in infants that improves with neck extension concern for

Answer 82

Vascular ring

Question 83

Inspiratory strider an infant that is loudest and supine position and improves when fences held upright or prone

Answer 83

Laryngomalacia

Question 84

Three-month-old with hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia. Appearance = doll like faces (fat cheeks), thin extremities, short stature, and protuberant belly (due to large liver and kidney)

Answer 84

Glucose-6-phosphatase deficiency = type 1 glycogen storage disease = von gierks disease

Question 85

Glycogen storage disease that presents with floppy baby with feeding difficulties, macroglossia, and heart failure (due to hypertrophic cardiomyopathy)

Answer 85

Type 2 glycogen storage disease = acid maltase deficiency = Pompe'sdisease

Question 86

Similar clinical manifestations as Type 1 glycogen storage disease. However laboratory findings differ patients with elevated liver transaminases, fasting ketosis, and normal blood lactate and uric acid concentration. Also normal kidneys but splenomegaly.

Answer 86

Type 3 glycogen storage disease = Glycogen debranching enzyme deficiency

Question 87

Infant with hepatosplenomegaly and failure to thrive as well as progressive cirrhosis of the liver in first 18 months of life. Glycogen storage disease

Answer 87

Type 4 glycogen storage disease = deficiency of branching enzyme activity = amylopectinosis