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• leukemia
ALL AML CLL
child adult elderly
BM lymphoblasts 25%myeloblasts
lab Lymphocyte 5000, mature-appearing cells
• Osgood-schlatters disease
 Adolescent male athletes
 Traction apophysitis—quadriceps tendon put the traction on the
apophysis of the tibial tubercle where patellar tendon inserts.
 A firm mass =heterotopic bone formation
 Pain can be reproduced by extending the knee against resistance.
 Treatment—activity restriction, stretching exercises, NSAIDS.
 Point tenderness at the inferior pole of the patella
• Prepatellar bursitis—
 chronic irritation of the anterior knee
 pain with direct pressure and superficial swelling
• Patellar tendonitis
 Overuse syndrome
 Anterior knee pain after exercise
• Tibial osteomyelitis
 Refuse to bear weight
• Patellafemoral stress syndrome
 Overuse injury
 Anterior knee pain worsen upon descending steps/hills.
• Epinephrine
 Alpha-1: vasoconstriction
 Beta-2: bronchodilation
• Jejunal atresia
 Triple bubble signs
• Hirschsprung disease
 Failure to pass meconium by 48 hours of age
• Ingestion of the battery
 Endoscopic removal if in the esophagus
 OB if pass esophagus


• TORCH infection
 Toxoplasmosis, rubella, CMV, HSV, Syphilis
Microcephaly, hepatosplenomegaly, deafness, chorioretinitis,
thrombocytopenia, growth retardation
 Rubella
Also including blueberry muffin appearance caused by purpura
• In order to prevent microcephaly, give MMR vaccine to mother
• Standard prenatal care screen for infection with
 syphilis,
 Chlamydia,
 gonorrhea,
 HIV
 Rubella
 HBV
• Lead poisoning
 Screening—fingersticks
 Confirm—serum venous blood level if above > 10
 Treatment
1. Remove child from the old house
2. Recheck child with lead level < 20
3. Chelation therapy
Dimercaprol or dimercaptosuccimer acid ( DMSA, succimer) if lead > 45
• Hydrocephalus
symptoms Physical exam finding
Poor feeding
Irritability
Decreased activity
vomiting Tense and bulging fontabelle
Prominent scalp veins
Widely spaced cranial sutures
Rapidly increasing head circumference
 Treatment—shunt to peritoneum, pleura, right atrial.
• Acquired torticollis
 “wryneck”
 Cause—
 URI, minor trauma, cervical lymphadenitis
 Retropharyngeal abscess and atlantoaxial subluxation
 Cervical spine x ray should be ordered first
 Botulism toxin injection rarely used on child.
• Cephalohematoma
 Subperiosteal hematoma
 Slow process
 Reabsorb spontaneously within 2 weeks to 3 months
• Cranial meningocele
 Presence of pulsation
 Increased pressure upon crying
 X ray bony defects.
• Bruton’s agammaglobulinemia
 6-18 months
 Recurrent RUI
 Normal T cell (CD 3)
 Low B cell ( CD 19)
 IVIG infusion
 Four findings
1. Onset of recurrent bacterial infections in the first 5 years of life
2. Serum Ig G, IgM, IgA are at least 2SD below the normal for age
3. Absent isohemagglutinins or poor response to vaccine
4. Less than 2% CD 19+B cell
• CVID
 Low IgG,IgM, IgA
 Normal number B cell
 Older 15 -25 years old
• Transient hypogammaglobulinemia of infancy THI
 Extension of hypogammaglobulinemia beyond 6 months
 Normal B and T cell
 Low IgG, normal IgA and IgM
 Ig will be normal by 6-11 month
• Selective IgA deficiency
 < 50
 RI, GI, GU
• Croup
 < 3 yo
 Laryngotracheitis
 Laryngotracheobronchitis (LTB)
 Laryngeal infection with hoarseness, barking cough, Resp.
distress
 Parainfluenza virus
 Lateral X ray –subglottic narrowing
 Always give a trial of racemic epinephrine in cases of croup
before intubation.
• Epiglottitis
 Older child
 More toxic, stridor and drooling
 Lateral X ray-thumb sign, thicken aryepiglottic fold,
obliteration of the vallecula.
• Bacterial laryngotracheobronchopneumonitis
 Low respiratory
• Spherocytes
 Autoimmune hemolytic anemia—comb’s test positive
 Hereditary spherocytes –coomb’s test negative
• Normal physiological neonatal changes
 Switch to adult Hb
 A 30% drop in Hb
 A fall in MCV
• Jaundice
 Breast milk jaundice
 A factor in human breast milk increased intestine
absorption of bilirubin and peaks in 2 weeks of age

 Breast feeding jaundice
 Sepsis
 Jaundice after the 3rd day and within first week of life
 s/s—fever/hypothermia. Jaundice, lethargy, and poor feeding
 all infant with a suspected diagnosis of sepsis should be
evaluated with blood cultures and a lumbar puncture.
• The vaccine schedule for preterm baby should be conformed to the
child chronologic age, not the gestational age.
 The exception is that children should be 2 kg prior to receiving
the first HBV.
• Children with congenital heart disease , particularly right to
left shunt are at risk for brain abscess.
• Kawasaki disease (mucocutaneous lymph node syndrome)
 18-24 months
 Coronary artery aneurysm is the most serious complication
 Treatment: IVIG and ASA
 Fever > 39 for 5 days as well as 4 out the flowing 5 criterias:
1. Extremity changes, such as erythema, edema, or desquamation of the
hands and feet;
2. Conjunctivitis, which is usually bilateral and nonpurulent;
3. A rash on the trunk ( morbilliform truncal exanthema)
4. Cervical lymphadenopathy which must be >1.5cm and is usually
unilateral; and
5. Oral changes which can include erythema, fissured lips, or a
strawberry tongue.
 Supporting laboratory evidence can include sterile pyuria, a C-
reactive protein level>3, an erythrocyte sedimentation rate >40, an albumin
level<3, an elevated ALT, thrombocytosis, and leukocytosis (>12, 000). Other
clinical findings may include urethritis, orchitis, arthritis, or hepatitis
. Induration and erythema of a previous BCG vaccination site can also occur.
 Baseline echo within 7 days and repeat 6-8 weeks.
• Staphylococcal scalded skin syndrome is a more localized skin
infection. Fever and irritability can occur, but the main complaint is an
erythematous rash which is warm and tender to palpation. The rash is
accentuated in the flexor creases. Patients can develop bullae and
exfoliation as well.
• Concerning sexual behaviors in young child
 Extensive sexual knowledge
 Preoccupation with masturbation
 Touching other’s genitals
 Excessive talking about sexuality
 Simulating foreplay or intercourse.
• Respiratory distress syndrome or hyaline membrane disease
Causes
 Prematurity
 Infants of DM mother
 Gestational age
 Male sex
 C section
• Osteogenesis imperfect
 AD
 Defect in type 1 collagen
 Early hearing loss
 Type II is the most severe form
 Dentinogenesis imperfect
• Congenital adrenal hyperplasia
 Adolescent onset of hirsutism and virilism
 Elevated 17-hydroxyprogesterone
 Normal menstruation
• USPSTF
 Vision screen for 0-5 years old ( strabismus, amblyopia,
refractive error.
 Meningococcal vaccine 11-12 years old (high risk-aplenic may
get at 2 yo)
• Minimal change disease
 Most common NS
 Highly steroid sensitive
 Empiric steroid treatment
 No biopsy needed
• Klumpke’s paralysis
 Hand paralysis and ipsilateral horner syndrome (ptosis and
miosis)
 Cervical nerve 7,8, T1
 Tx
1. partial immobilization and positioning
2. day 7-10—gentle message and ROM
3. 3-6 months—surgery.
• Erb-Duchenne palsy
 Absent moro reflex and intact grasp reflex
• Celiac disease
 Iron deficiency anemia
 12-15 months
• RSV
 Cause bronchiolitis, which defined as the first episode of
wheezing a/c URI
 WBC normal and CXR-air trapping or atelectasis
 Treatment—humidified Oxygen and bronchodilators
 Ribavirin in high risk child
 Increased risk for asthma later in life.
• Graph
language Gross motor Fine motor social
2 months Social smile Recognize parents
3 months Hold head
4 months Rolls back to front and front to back
6 months babbles Sits well unsupported Raking grasp Stranger
anxiety
12 months 2 words, obey 1-step command Walks alone Throw objects
Imitates action
15 months Build tower of two blocks
18 months Plays with other children
24 months 2-3 words
Obey 2-step command Walks up and downstairs without help Build tower
of 6 blocks. Turn pages of books Parallel play

• Night terror
 Non-REM
 Episodes of fear, screaming, or crying during which child cannot
be fully awakened
 Child has no memory of the incident.
 Seen in child in 2-12 yo with peak at 5-7
• Nightmare
 REM
 Frightening dreams
 Fully asleep during the nightmare and do not cry, scream,
 When awaken, child is fully alert and can recall the nightmare
• Somnambulism
 Non REM
 Sleepwalking
• Benign paroxysmal vertigo
 Resolves as child age
• Thymus
 Sail sign
 <2 years old
• Septic arthritis
 Hematogenous follows URI
 Refuse to walk, keep the affected limb externally rotated
 True surgical emergency and needs immediate drainage
A delay even 4-6 hrs can lead to avascular necrosis of femoral head
 ABX—
 Infants—antistaphylococcal agent( nafcillin or vancomycin) and
third-generation cephalosporin
 Child> 5yo-- antistaphylococcal agent( nafcillin or vancomycin
• Acute rheumatic fever
 Jones criteria
Two major or one major and two minor
 Major
1. Carditis
2. Migratory polyarthritis
3. Sydenham chorea
4. Subcutaneous nodule
5. Erythema marginatum
 Minor
1. Arthralgia
2. Fever
3. Elevated acute reactants
4. Prolonged PR interval
• ADHD
1. Predominantly inattentive
2. Predominantly hyperactive-implusive
3. Combined
 Six s/s before age 7 yo, 6 months
• Absence seizure
 4-8 yo
 Ethosuximide and valproic acid
• Compartment syndrome
 Pain, pallor, poikilothermia, paresthesias, pulseless, paralysis
• Supracondylar humerus fracture
• Intussusceptions is best diagnosed and treated with an air
contrast enema.
• Infantile GERD
 Common in infant , 50% term baby
 Peak at 4 months, resolve by 1 year
 Frequent vomiting, but maintain adequate weight gain
 Thickend feeds and positioning amined to decrease the intraabd
pressure.




• Constitutional growth delay
 Most common cause of short stature and puberty delay in
adolescent.
 Characterized by a delayed growth spurt, delayed puberty,
delayed bone age.
 Normal birth weight and height,
 6months-3 years: Ht growth velocity slow and drop percentile on
the growth curve
 3 years—child regain the normal growth velocity and follows the
growth curve at 5-10th percentile.
 Puberty and the adolescent growth curve delayed
 Will have a normal growth spur and reach a normal adult height
• Sickle cell anemia
 Chronic Hemolytic anemia (extravascular) and Reticulocytosis
 Iron deficiency anemia is not common as the hemolysis is
extravascular.
 Hyperbulirubinemia, ↑LDH,↓haptoglobin.
 Prophylaxis PCN Bid until 5 years old
 Folic acid supplement
 Vaccine with conjugated capsular polysaccharide
 Can cause childhood stroke.
 Acute severe anemia
 Dactylitis is the earliest manifestation of vaso-occlusive
disease
Aplastic crisis Splenic sequestration crisis Hemolytic crisis
a/c parvovirus B 19 Rapidly enlarged spleen and shock
↓↓Hb and ↓↓Hb
Absence of reticulocyte reticulocytosis
Tx—blood transfusion Tx-splenectomy
• Polycythemia
 Pulmonary HTN, OSA, smoking, dehydration
• Inflamed , fluctuant cervical lymph nodes are typically caused by
streptococcal or staphyloccal infection. The ABX—dicloxacillin, or
cephalexin, or clindamycin
• Jaundice
Breastfeeding Failure Jaundice Breast Milk Jaundice
Feeding insufficiency resulting in insufficient caloric intake A factor
in human milk increases bilirubin enterohepatic circulation
Occurs in the first week of life Unconjugated hyperbilirubinemia extends
into the third and later weeks of life
Rx: Promote and support successful breastfeeding. Increasing nursing
frequency and duration Rx: Temporary interrupt breastfeeding if bilirubin
is markedly elevated; otherwise, non necessary
 Bilirubin 17-25—photo therapy
 Bilirubin > 25—exchange transfusion
• Thalassemia trait
 AR
 Microcytic anemia and mild elevated reticulocyte count
 RDW normal
• Iron deficiency anemia—low reticulocyte and greater than 20% RDW
 Cow milk before 12 months of age a/c GI blood loss.
 1-5 yo should not have more than 20 oz milk daily
• RDW help distinguish the thelassemia and iron deficiency anemia
• Wiskott-aldrich syndrome
 Thrombocytopenia—impaired PLT production
 Eczema
 Bacterial infections
• Hypernatremia
 AMS, lethargy, irritability, seizures,muscle cramps, weakness,
↓DTR
 Treatment—NS
• Viral meningitis CSF—normal glucose, increased protein,
• Lymphadenitis
 Bacterial ∞-- staphy and strep
 Tularemia—francisella tularensis
 Acute unilateral cervical lumphadenopathy
 Fever, chills, headache, malaise
 Contact with animal
 Peptostreptococcs
 Anaerobic
 Older child with hx of periodontal dx
 Acute unilateral lymphadenitis
 Non TB—MAC
 Unilateral subcute chronic lymphadenopathy
 <5 yo,
• Congenital syphilis
 Cutaneous lesions on the palms and soles, hepatosphlenomegaly,
jaundice, anemia, and rhinorrhea.
 Radiographs demonstrate ,metaphyseal dystrophy and periostitis.
 Late congenital manifestations (presenting after two years of
age) include frontal bossing, high arched palate, Hutchinson teeth,
interstitial keratitis, saddle nose, and perioral fissures. These late
manifestations can be prevented with early treatment of the infant.
 Parental penicillin G is the treatment of choice for syphilis.
• Breath holding spells
 Episodes of apnea a/c LOC
 Precipitated by frustration, anger or pain
 6-18 months
 No incontinence or postictal phase
1. Simple—no changes in circulation or oxygenation
2. Cyanotic—cyanosis. Hypoxia, decreased blood flow to brain
3. Pallid—pallor after the painful events
4. Complicated—cyanotic or pallid type with seizure-like activity, EEG
normal
 Self limiting and no treatment needed.
• Charcot’s arthritis
 Charcot’s joint or neurogenic arthropathy
 Joint destruction resulting from deterioration of proprioception
, pain sensation, and temperature sensation.
 DM neuropathy, syringomyelia, spinal cord injury, Vit B 12,
tabes dorsalis, peripheral nerve disease.
• Proteinuria in child
1. Transient proteinuria
 Most common cause by fever, seizure, stress, dehyration
2. Orthostatic proteinuria
 Adolescent boy
 Should be evaluated with a repeat urine dipstick testing on two
separate occasions to rule out persistent proteinuria.
• Pericardial effusion can present after Sx for congenital heart
disease and called
Postpericardiotomy syndrome
• Meckel’s diverticulum
 Painless rectal bleeding in a young child.
 Dx by a technetium -99m pertechetate scan
• Vitamin A deficiency and measles
 Measles ac leucopenia and trombocytopenia
 Night blindness
 Xerophthalmia
 Bitot’s spot (abnormal squamous cell proliferation and
keratinization of the conjunctiva
 Corneal perforation
 Keratomalacia
 Humoral and cell-mediated immune system inhibition
 Death
• WPW—shortened PR interval, delta wave and widening of the QRS
complex.
• Retropharyngeal abscess.
 6months-6 years
 Life threatening
 Pharyngitis, moderate fever, dysphagia, neck stiffness, muffled
voice, hot potato voice, posterior pharyngeal bulge.
 X-ray taken during aspiration and neck extension
 CT confirm

• VSD
 Left lower sternal border Pansystolic murmur
 Apex diastolic murmur
• Valproic acid—blood dyscrasias. Liver toxicity
• Carbamazepine—aplastic anemia and SIADH
• Child weight double by 5 months, triple by 1 year.
Height increased 50% at 1 year, double at 4 years, triple by 13 yo.
• Niacin deficiency
 The characteristic dermatitis seen in pellagra occurs in sun
ecposed areas and resembles a sunburn. Also bilateral and symmetric.
• Child dehyratioin
1. Mild dehydration (3-5% volume loss)
2. Moderate dehydration (6-9% volume loss)
3. Severe dehydration (10-15% volume loss)

Preseptal cellulitis Orbital cellulitis
Infection of eyelids Posterior to obital septum
Eyelid discolorization ↓eye movement, ↓visual acuity, double vision,
proptosis
Oral ABX in outpt IV ABX inpt and surgical decompression
• Myocarditis
 Gold standard –biopsy
• Polycythemia in neonate
 HCT> 65%
 The most common cause is the delayed clamping of the umbilical
cord
 Hyperviscosity of blood decreased blood flow to organs
 The common s/s—respiratory distress, poor feeding, neurological
s/s.
 Treatment—hydration and partial exchange trasfusion
• Acute bacterial sinusitis—amoxicillin with or without clavulanic
acid.
• Hyper IgM syndrome
 ↑IgM,↓IgG and IgA
 Resp.and GI infection, lymphoid hyperplasia. PCP infection

• Posterior urethral valves
 Most common cause of congenital urethral obstruction
 Male infant with a distended palpable bladder and oliguria
 Voiding cyctourethrogram (VCUG) is DX
• Bladder extrophy a/c epispadias, UTI, incontinence.
• The initial step in children with speech delay is audiology
evaluation
• CF mutation—deletion of a three base pair encoding phenylalanine
(DF508) in the CFTR gene in Chromosome 7.
 Three most common organism causing PNA in CF
1. Haemophilus
2. Pseudomonas
3. staphylococcus
• Pertussis
 Phases
1. Catarrhal phase—flu-like syndrome
2. Paroxysmal phase—
 burst of whooping cough
 episodes of successive rapid cough followed by a deep and loud
inspiratory sound.
 Due to high rate of transmission, all close contacts ahould be
given erythromycin for 14 days , regardless of age, immunization or s/c.
 Vaccine involves acellular vaccine with DT
 2,4,6,months, 15 months, 4-6 years
 Treatment—
1. Respiratory isolation in the first 5 days of treatment
2. Erythromycin x14 days
3. Hospitalization if < 3 mo, 3-6 mo with severe paroxyams
• Turner syndrome
 Prophylactic bilateral gonadectomy
 Growth hormone treatment until the bone age is >15 yo and the
growth rate falls to less than 2 cm.
HUS TTP
thrombocytopenia thrombocytopenia
Microagiopathic hemolytic anemia Microagiopathic hemolytic anemia
Renal dysfunction Renal dysfunction
fever
Neurologic disturbance
• Esophageal atresia w/or w/o trachoesophageal fistula—first
feeding of newborn
• Diaphrahmatic hernia—cyanosis and respiratory distress minutes
or hours after birth.
Frothy bubbles in the oral cavity; polyhydromnios. VACTERAL
• Vascular ring –older infants
• Duodenal atresia—annular pancreas. a/c polyhydramnios
• Pyloric stenosis—Dx with ultrasound
• Febrile seizure
 3months -6 years
Simple febrile seizure Complex febrile seizure
Generalized tonic-clonic seizure Focal
< 15 min and occur in a 24hr period > 15min or occur more than once with
total duration>30min
No brain damage or recurrence Increase recurrence
D/C home EEG and MRI,
• Fetal hydantoin syndrome
 Hypoplastic nails, cleft palate, VtK deficiency, bleeding
• Erythema toxicum
 Healthy neonate first 2 days of life
 Benign, self limiting
 Erythematous papules and vesicles surrounded by patches of
erythema
 Presence od eosinophils in the puspules is diagnostic
• Laryngomalacia
 Congenital flaccid larynx
 Self limiting, resolves by 18 months
 Most common cause of chronic inspiratory noise in infants
 Worsen when crying or lying in the supine position
 Improves when in prone position with chin up ( neck
hyperextension)
 Child should be hold in an upright position for half an hour
after feeding and never feed the child when he is lying down.
 Laryngoscopy—flaccid larynx and collapses during inspiration.
• Screening at birth
 Congenital hypothyroidism T4 and TSH
 Phenylketonuria
 Galactosemia
• Phenylketonuria
 AS
 Most common screening test is blood phenylalanine
 Guthrie test
 Qualitative ( colorization)
 Metabolic products of phenylalanine in urine
• Pinealoma
 Parinaud syndrome
 Collier sign (eyelid retraction)
 Superior colliculus and CNIII
• VUR( vesicoureteral reflux)
 Complication—UTIrenal scarring—ESRD and HTN
 Dx—voiding cystourethrogram or radionuclide cystogram (RNC)
 AAP recommend that all children aged 2-24 mo with first UTI
should check for VUR.
• SLE
 Confirmed with anti-smith ab and anti-DsDNA
• Clubfoot
 Start treatment immediately
 Stretching, manipulation, casts
 Surgery
• Wilms tumor
 a/c beckwith-wiedemann and denys-drash syndrome
 suspect wilms tumor ina young child of 2-5 years age with a
localized abd mass.
 If the child is less than 1 year, suspect neuroblastoma.
• Henoch-schonlein purpura
 IgA mediated vasculitis
 Mesangial deposition of IgA
• Suspect lynch-nyhan syndrome if you see a boy with gout.
• Medulloblastoma most occur in the vermis
• Acute otitis media
Strep. Pneumoniae, haemophillus influenza, moraxella catarhalis
This first line treatment –amoxicillin x 10 days
• Alexia-acquired disorder of reading
• Chlamydia is the most common causative agent of infectious
neonatal conjunctivitis. Chlamydial pneumonia can develop in infected
infants.
• Wheezing is rare. (the latter two features permit to
differentiate chlamydial pneumonia from RSV bronchiolitis.) The treatment is
oral erythromycin for 14 days
• Premature adrenarche is characterized by the isolated appearance
of axillary hair before the age of six years. This change results from
premature androgen secretion of the adrenal glands. It is generally benign
and has no clinical significance.
• Premature pubarche (pubic hair growth before the age of 8) is
more alarming. As it may be due to a CNS disorder in 50% of cases.
• HCG may be produced by hepatomas and result in precocious puberty
; however, it occurs almost exclusively in boys.
• CGD
 Catalase-positive organisms, such as S. aureus, Serratia
marcescnes, Burkholdena cepacia, Klebsiella, and Aspergillus sp.
 The diagnosis is made by nitroblue tetrazolium (NBT) slide test,
flow cytometry, or cytochrome C reduction. Treatment includes prevention of
infection with daily trimethoprim-sulfamethoxazole and gamma-interferon
three times a week
• Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease
caused by a defective gene encoding for Wiskott-Aldrich syndrome protein (
WASP). Low IgM levels, high IgA and IgE levels.
• Chediak-Higashi syndrome is characterized by decreased
degranulation, chemotaxis and granulopoeisis. It is a multisystem disorder
with mild coagulopathy, peripheral and cranial neuropathy,
hepatosplenomegaly, pancytopenia, partial oculocutaneous albinism, frequent
bacterial infections (usually S. aureus), and progressive
lymphoproliferative syndrome. The findings of neutropenia and giant
lysosomes in neutrophils will confirm the diagnosis. Treatment includes
prevention of infection with daily trimethoprim-sulfamethoxazole and daily
ascorbic acid.
• Leukocyte andhesion defect (Lad) syndromes result from failure of
innate host defenses against bacteria, fungi, and other microorganisms due
to defective tethiering, adhesion, and targeting of myeloid leukocytes to
sites of microbarila invasion. The hallmark of the disease os meutrophilia
without pohymorphas in the infected tissue or pus. Patients will typically
have a history of delayed separation of the umbilical cord , recurrent
bacterial infections, necrotic skin lesions, severe gingivitis,
periodontitis, and alveolar bone loss leading to early loss of deciduous and
permanent teeth.
• Hyper-IgE (Job’s) syndrome is characterized by chronic pruritic
dermatitis, recurrent staphylococcal infections (skin and respiratory tract
), markedly elevated serum IgE levels, eosinophilia and coarse facial
features.
Recurrent staphylococcal infections involving the skin, lungs and joints
with other features such as distinctive facial appearance, dental
abnormality and bone fracture
• Transient synovitis
 Male
 3-10
 History of recent viral infection
 Unilateral hip or knee pain
 Affected hip flexed, slightly abducted and externally rotated,
mild limitation of motion, pain with palpation or passive motion.
 Treatment:
• 4 clinical criteria to dx septic arthritis
1. WBC > 12000
2. T> 39
3. ESR >40
4. Refuse to bear weight.
• Listeria—ingestion of unpastereurized milk from infected cow
• Benign astrocytoma is the most common in pediatric brain tumors.
• ADHD 2470
• AVM is the most common cause of the subarachnoid hemorrhage in
children. The history of seizures and migraine-like headache is
characteristic.
• Diamond-blackfan syndrome
 Congenital hypoplasia anemia
 Intrinsic defect of erythoid progenitor cells which results in
increased apoptosis
 s/s
1. macrocytic anemia—no hypersegmentation of the nucleus in neutroplils
2. low reticulocyte
3. congenital anomalies-short statue, webbed neck, cleft lip, shielded
chest and triphalangeal thumb.
 SPEP—HbF,
 Tx—Steroids, transfusion therapy
• Marfan syndrome
 Iridodonesis—a rapid contraction and dilation of the iris due
to dislocation of lens
 Dural ectasia—progressive ectasia of the dura and neural
formina, and the erosion of the vertebral bone resulting in enlargement of
the spinal cord.
 Lens dislocated upwards
• The tx of kawasaki’s disease
 ASA and IV Ig
Gaucher’s dx
acid β glucosidase
Anemia, thrombocytopenia, bone pain, pathological fracture Erlenmeyer
flask deformity of the distal femur gaucher cell with wrinkled paper
appearance
Nieman-pick dx sphingomyelinase Fetal in infancy
Cherry-red spot
Failure to thrive
Hepatosplenomegaly
Neurodegenerative
Death by age 2-3 yo
Farber dx ceramidase Bone pain and join swelling
Tay-sachs dx hexosaminidase Cherry red spot
• Anemia of prematurity
 Cause
 diminished RBC production
 shortened RBC life span
 blood loss
 Hb 7-10
 Lab
 Normocytic and normochromic anemia
 Low reticulocyte
 Normal WBC and PLT
 Normal total bilirubin
 Treatment
 Iron
 Hb checking
 Transfusion
• A solitary, painful, lytic long bone lesion with overlying
swelling and hypercalcemia in a a child
1. Langerhans cell histiocytosis
Resolves spontaneously and treated conservatively
2. Neoplastic processes
• Mongolian spots
 Entrapment of the melanocytes in the dermis during their
migration from the neural crest into the epidermis in fetal development
• Jaundice
1. First 24-36 hours
2. > 5mg/dl/24 hours
3. Bilirubin > 12 in full term and > 10-14 in premature
4. Persistent after 10 -14 days
5. Direct bilirubin > 2 at any time
6. Presence of signs and symptoms.
 Jaundice appear after 5th day and within the first week 
neonatal sepsis.
 Direct bilirubin > 2 is an indication for evaluating neonatal
jaundice
 If jaundice, priority is to rule out the sepsis, hypothyroidism,
metabolic disease (galactosemia and tyrosinemia)
• TOF—single S 2
• RTA
 Normal anion gap MA
 Can cause failure to thrive
 Types
1. Type I-genetic disorder in child. Nephrolithiasis
• Triad of congenital rubella syndrome-deaf, cataract, PDA,
blueberry muffin.
Precocious pubarche Precocious puberty
Late-onset congenital adrenal hyperplasia
Gonadotropin-independent process Premature activation of HPG axis
Signs of severe androgen excess (severe cystic acne, significant growth
acceleration) Less dramatic
• PKU
1. Plasma Phenylalanine > 20
2. Normal tyrosine
3. Increased urine metabolites ( phenylpyruvic and o-hydroxyphenlacetic
acids)
4. Normal tetrahydrobiopterin level
• Alkaptonuria
DX. urine homogenetisic acid
• Tyrosinemia
 Deficiency of fumarylacetoacetate hydrolase
 Smell like boiled cabbage
 Fanconi like syndrome
• Kartegener’s syndrome triad
 Recurrent sinusitis
 Bronchiectasis
 dextrocardia
• CF
 Meconium ileus—X ray—dilated bowel and a granular ground glass
appearance in lower abd.
 Most common—S. aureus, pseudomonas, H, influenza
 Complication—gallstones, cirrhosis with portal HTN and
pancreatic fibrosis.
• Todd’s paralysis
 Sudden LOC with following disorientation and slow gain of
consciousness is a characteristic of a seizure
 Restore motor function within 24 hours
• Lyme disease
1. Stage 1 –erythema migrans. Amoxicillin for child < 9 yo, doxycycline
> 9yo (21 ds)
2. Stage 2
3. Stage 3—cardiac /neurological s/s, Ceftriaxone or PCN G 14-21 ds.
• HIV infection is absolute contraindication to breatfeeding
• Apgar score
0 1 2
color All blue Body pink and extremities blue All pink
HR 0 <100 >100
RR 0 Slow & irregular good
Tone/activity limp Some flexion of ext. Active flexion of ext.
Reaction to nasal stimulation no grimace Active cough
• Wolf-hirschhorn syndrome
 Greek helmet facies.
• Homocystinuria—
 Marfan + thromboembolic events
 Cystathionine synthase deficiency
 Cataract and retinal detach
 Treatment—high dose Vitamin B6
• Panner disease
 Osteochondrosis of the capitellum
 Adolescent who is actively engaged in sport activities that
involves throwing.
 Pain, crepitation, loss of the motion of the arm
• Acute bacterial sinusitis—amoxicillin.
Type I
Von-Gierkes Glucose-6-phosphatase Doll-like face(fat cheek)
Thin ext.
Short stature
Protuberant abd Hypoglycemia
Hyperuricemia
Hyperlipidemia
Lactate acidosis
Type II
Pompes Acid maltase Floppy baby with feeding difficulty
Macroglossia and CHF (HCM)
Type III Debranching enzyme ↑liver enzyme
Fasting ketosis
Normal lactate & UA
Type IV Branching enzyme Progressive cirrhosis
Failure to thrive
• Nocturnal enuresis
 Boy
 Positive family history
 Tx
1. Reassurance,bladder exercise, scheduled toileting
2. First line med-DDAVP—desmopressin
3. Second line med—imipramine
• Leukocyte adhesion defect
 Delayed separation of umbilical cord
 Necrotic periodontal infections
• Differential for T wave inversion
 MI
 Myocarditis
 Old percarditis
 Myocardial contusion
 Digoxin toxicity
3 years Cross and circle
4 years Square and rectangle
5 years triangle
6 years diamond
• CAH—ACTH stimulation test
• Prader-willi syndrome
 Hypotonia
 Hyperphagia
 Obesity
 Short stature
 Mental retardation
 Narrow bifrontal diameter, diamond shaped eye and small, down
turned mouth
• Beckwith wiedemann
 macrosomia
 Macroglossia
 Large size
 Vesceromegaly
 Omphalocele
 Microcephaly, Prominent eyes, occipit, pancreas hyperplasia, Ear
crease
 Hypoglycemia
 Hyperinsulinemia
 Pt has increased risk for wilms’ tumor, hepatoblastoma,
gonadoblastoma.
 The region contains the gene encoding for IGF-2
• Congenital hypothyroidism
 Umbilical hernia
 Large head
• McCune-Albright syndrome
 Precocious puberty, café au lait spots, polyostotic fibrous
dysplasia
 Other endocrine disorders( hyperthyroidism, pituitary adenoma,
cushing)
 Defect in G protein cAMP kinase
• Down syndrome—atlantoaxial instability due to laxity in the post
. transverse ligament. With UMN finding
• Hypocalcemiaprolonged QT
• Intravenricular hemorrhage seen in premature and lBW baby.
• Every case of leukocoria is considered a retinoblastoma until
proven otherwise.
• Midgut volvulus
 < 1 mo
 Bilious vomiting
 Abd distension
 Bloody stool
• Turner syndrome osteoporosis
• Dx hearing loss vs autism
 Autism-repetitive behaviors that are characteristic of autism,
and social isolation
 Age—autism appear before age 3
• Cutis marmorata
 A lace-like pattern on the skin in response to cold or stress
 Down syndrome ot trisomy 18
• Salmon patch
 Glabella, eyelids, neck
• Avascuar necrosis of femoral head
 Two blood supply
Ascending arteries and foveal artery (lie with the ligament teres,
obliterated in older pt)
o Sickle cell
o Chronic steroids
o Alcoholism
o Gaucher disease
• Intraosseous
 For 24-48 hours
• Choanal atresia
 DX confirmed by CT with intranasal contrast, which shows a
narrowing at the level of the pterygoid plate.
 Management—
 placing an oral airway and lavage feeding
 repair by surgery or endoscopy
• laryngomalacia—
 most common laryngeal congenital anomaly
 the hallmark—inspiratory stridor that is exacerbated by any
exertion
• sickle cell—howell-Jolly bodies.
• Helmet cell—DIC, HUS, TTP
• Basophilic stippling—ribosomal precipitates/thalathemias, lead
poisoning
• Tricuspid atresia
 An absence connection between the right heart cavities and a
hypoplastic /absent right ventricle
 VSD in 90%
 TGA in 30%
 Venous bloodASDleft cavitiesVSD
outlet portion of the RV to reach Pulmonary circulation.
 EKG—LV hypertrophy and left axis deviation
(TOF – RV hypertrophy)
 Treatment
 PGE1
 Balloon atrial septostomy
• Vitamin # 2480
• Thyroid dysgenesis is the most common cause of congenital
hypothyroidism In US.
• Meningitis
 Two most common cause—step. Pneumonia and N. meningitis
 IV vancomycin and ceftriaxone
 Ampicillin is for listeria monocytogenes—immune deficiency and
neonate
• Fetal alcohol syndrome is the most common cause of mental
retardation in children.
• Duchenne Muscular dystrophy
 < 5 yo
• Becker Muscular Dystrophy
 > 12 yo
 Serum CK is screening and muscle biopsy is confirmatory
• Umbilical hernia
 Most disappear by 1 yo
 Surgery if
 3-4 years old
 >2cm
 Cause symptoms
 Strangulated
 Progressive enlarge after the age of 1-2 years
• Umbilical polyps
 Persistent of omphalomesenteric duct or urachus
• Neonatal conjunctivitis
 Chemical:
 most common cause in 1st 24 hours and resolves in 24 hours
 silver nitrate to prevent the gonococcal
 Gonococcal
 2nd to 5th day
 Hyperacute and highly purulent  blindness
 ceftriaxone
 Chlamydia
 5th-14th day
 Scant, mucoid or frankly purulent
 ORAL erythromycin to reduce the PNA
• Scarlet fever
 Erythrogenic exotoxin
 Sand paper –like rash
 Circumoral pallor
 PCN V
• Kawasaki
 Bilateral conjunctival injection
• Herpangina—coxsackie A
• Betablocker are avoided in TCA intoxication
Trisomy 18 VSD
William disease Supravalvular aortic stenosis
CATCH-22 syndrome TA,TOF,interrupted aortic arch
lupus Congenital heart block
rubella PDA
• Turner syndrome—high palate, short fourth metacarpal, nail
dysplasia.
• Group B step is the most common cause of neonatal sepsis
 Early sepsis—1st week and involves several organs
 Late sepsis—focal infection, meningitis.
• Neonatal HIV Dx—
 PCR, Viral culture, p24 antigen
 HIV is confirmed at least two of above is positive.
• Neonatal abstinence syndrome (NAS)
 Heroin and methadone
 Irritability, high-pitch cry, poor sleeping, tremors, seizure,
sweating, sneezing, tachypenia, poor feeding, vomiting, diarrhea
• Valproic acid—NTD
• Fetal hydantoin syndrome—nail and digit hypoplasia, dysmorphic
faces, mental retardation.
• Necrotizing enterocolitis
 Bowel wall injury due to perinatal asphyxia
 Increased gastric residual volume in a preterm neonate is highly
suspicious
 ARDSnecrotizing enterocolitis
• Bilious vomiting without the abd distension is the cardinal sign
of duodenal atresia.
• VSD
 Small defect
close spontaneously and requires no tx as long as no signs of pulmonary
vascular disease.
Reassurance and surveillance via EKG and echo are needed.
 Large defect
Present with softer murmur
• Sturge-weber syndrome
 Congenital unilateral cavernous hemangioma along the trigeminal
nerve distribution
 Intracranial calcification that resembles a tramline
 Treatment—
o control seizure and reduce IOP
o Argon laser therapy for skin lesion
• Lactose intolerance
1. Improvement of symptoms after abstraining from dairy products
2. Acid PH in stool
3. Presence of positive reducing sugar
 The Dx is confirmed by a positive hydrogen breath test
• Salmonella poisoning—Rose spot ( erythematous rash on abd)
• DTap
 An immediate anaphylactic reaction, encephalopathy, any CNS s/s
within 7 days of vaccine is a contraindication for further DTaP
 DT should be substitute since the adverse reaction are usually
the pertussis component of vaccine



• Chickenpox
 Varicella vaccine should be given within 3-5 days of exposure
for healthy pt.
 Immunocompromised pt, pregnant woman—VZIG with 96 hours of
exposure.
VZIG can prolong the incubation beyond 28 days postexposure.
• A buccal smear dx Turner syndrome
• Congenital toxoplasmosis
 Cat, raw meat, unpastereurized goat’s milk
• IM
 Characteristic polymorphous rash after taking ampicillin or
amoxicillin
• Rotavirus
 Most common cause of acute GI in child 6months-2 years
 Self-limiting
• Cyclical vomiting
 Recurrent self-limiting episodes of vomiting and nausea in
absence of any apparent cause
 High incidence in child whose parents have Migraine
 Treatment-reassurance and antiemetics
• Meconium aspiration
 Patchy infiltrates, coarse streaking of both lung fields,
increased AP diameter, flattened doaphgram.
• Persistent pulmonary hypertension of the newborn
 Unresponsive to 100% oxygen
 Persistent RL shunting vis PDA and ASD
 X ray—normal.
• Clavicle fracture
 In infant, no treatment needed, will heal in 3-6 wks
• Congenital diaphragmatic hernia
 Cause Severe respiratory distress
 1st treatments--oralgastric tube and suction
2nd—intubation
• All pt with a supracondylar fracture must have their radial pulse
checked.
• In a young child with recurrent URI and bilaterial nasal fibrosis
, CF must be ruled out.
• Allergic rhinitis—eosinophilia in nasal discharge is dx.
• Denys-drash syndrome—a/c wilms tumor
 Male pseudohermaphrodism
 Early onset renal failure characteristic by mesangial sclerosis
• Infant of DM mother
1. Caudal regression syndrome
2. TGV
3. Duodenal atresia and small left colon
4. Anencephaly and NTD
• Iron poisoning
 Ipecac syrup to induce emesis is used in asymptomatic pt with an
intact gag reflex
 IV deferoxamine is used in moderate to severe cases
 Activated charcoal is not effective
 Gastric lavage is not recommended
• Vitamin K cause hyperbilirubinemia in premature infants.
• TGA
 Single loud S2-
 no murmur
 CXR—initially normal but show some evidence of increased
pulmonary blood flow after 1-2 weeks
• Galactose-1-p uridyl transferase deficiencyE. coli
neonatl sepsis
• Uridyl diphosphate galactose-4-epimerase deficiency also include
hypotonia and nerve deafness
• SCID—severe combined immune deficiency—absent lymph node &
tonsils, lymphopenia, absent thymic shadow .
• Coarctation of aorta
 Mild continuous murmur heard all over the chest( due to
development of collaterals between the hypertensive and hypoperfused vessels
.)
• AV canal defect
 L to R shunt-> Pulmonary HTN with a loud P2
• Henoch-Schonlein purpura
 Intussusceptions ( Sx emergency)
• ITP
 2-6 yo
 Preceded by viral infection
 Thrombocytopenia
 Self-limited
 Steroids is for PLT< 30,000
• Vitamin # 4302
• Hemophilia arthropathy
 Hemosiderin deposition and fibrosis
• Infant colic
 Excessive crying in an otherwise healthy infant for > 3 hrs/day,
3 ds/week, 3wks/month.
 Resolve by four months of age
 Occur at same time of day, typically in the early evening.
 Child can not be comforted
 Treatment—
soothing measures
simethicone ( decrease the surface tension of gas bubble)
probiotics
• goat milkfolic acid deficiency
• metanephros—renal parenchyma
• mesonephrosis—seminal vesicles, epididymis, ejaculatory ducts
and ductus deferens
• small for gestational age (SGA)
 birth weight is below the 10th percentile
 at risk for
hypoxia,
hypothermia
Hypoglycemia
Hypocalcemia
Polycythemia
Meconium aspiration
• Scurvy
 6-24 months
 Pseudoparalysis (frog position)
 Bluish-purple and spongy/swollen gums on the upper incisors.
 Depression of sternum
 X ray—pencil-point thinness of the long bone’s cortex and
sharply outlined epiphyseal ends.
• Strabismus
 Cover test
 Occlusion therapy—covering the normal eye.
• Rocky mountain spotted fever
 Rickettsia rickettsii
• Contraindication to breastfeeding
1. Metabolic errors—galactosemia, phenylketonuria, urea cycle defects
2. Meds-radioactive isotopes, chemo or drug abuse
3. HSV,HIV, TB
4. HCV is not a contraindication to breastfeeding
• Gynecomastia
 Physiological—neonatal,adolescent/pubertal, aging
 Pathological—drugs, endocrine disorders, tumors
 Pubertal—
boys in 14 yo
regress in 6-18 months
reassurance
• bedwetting is normal until the age of 5
• impetigo
 a/c post strep glomerulonephritis
 nasal carriage of Staphy can cause recurrent impetigo
 topical mupiocin or oral erythromycin
• liquid alkali
 maintain airway patency
 Upper GI endoscopy in the first 24 hr is the diagnosis of choice
 Steroids increase the chance of perforation
• Foreign body aspiration
 Rigid bronchoscopy
• Slipped capital femoral epiphysis
 22-30
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