e****0 发帖数: 678 | 1 • 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
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• 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.
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• 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
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• 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—UTIrenal 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
• Hypocalcemiaprolonged 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 bloodASDleft cavitiesVSD
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
ARDSnecrotizing 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 RL 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 deficiencyE. 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 milkfolic 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 | D******D 发帖数: 1159 | | a**********e 发帖数: 310 | | e******1 发帖数: 70 | | r*****1 发帖数: 805 | | s*********e 发帖数: 116 | | d*****x 发帖数: 96 | | a*****n 发帖数: 154 | | d******g 发帖数: 258 | 9 Emma is great, as always! | n*****a 发帖数: 105 | 10 好东西啊, 收藏了, 谢谢emma!辛苦了!!! | f**********d 发帖数: 231 | |
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