This My Book Titled Highlights In Pediatrics

1. Contents
Chapter Name Page
1- Growth, Development & Nutrition 1 - 16
2- Infant Feeding 17 - 23
3- Genetics 24 - 60
4- Infectious Diseases 61 - 83
5- Neonatology 84 -135
6- Heamatology 136 - 158
7- Oncology 159 - 160
8- Cardiology 161 - 175
9- Nephrology 176 - 200
10- GIT & Hepatology 199 - 238
11- Respiratory 239 - 265
12- Neurology 266 - 318
13- Endocrinology 319 - 339
14- Dermatology 340 - 343
15- Psychological Disorders 344 - 351
16- Psychiatry 352 - 353
17- Ophthalmology 354 - 357

2. Newborn History and Examination:
A) History taking B) Physical Examination
1) Personal H
Name, age, sex, address &
No in the family
2) Complaint :
Main complaint by mother /
care giver words.
3) Present H:
Onset, course , duration,
medications given, &
specific questions
4) Past H:
○ Perinatal, (prenatal,
natal, postnatal)
○ Developmental
○ Nutritional
○ Vaccination
○ Infections
5) Family H:
Parents, siblings, sig.
events/ illness,
consanguinity & S.E. status
/ level.
(1) Quick examination:
To detect life threatening insults
- Apgar score (After birth at 1,5,10,20 minutes)
then
- Observation :
Level of consciousness (LOC), appearance (color),
& signs of critical illness.
Normally, newborn is conscious, active alert, pinkish
in color
- Vital signs:
H.R (120-140) R.R (30-40), B.P, temp.(36 – 37.2 C)
(2) Detailed examination
● Measurements:
Wt, length,/height, & head circumference.
● Regional examination:
Head & neck, limbs, skin, back & spine, genetalia,
urine & stool.
● Systemic examination:
Neurological (flex all limbs), neonatal reflexes),
cardiovascular (apex beat, murmurs, femoral
pulsation), chest (RD, wheeze, crepitations, …),
abdominal examinations (organomegaly, ascites,
umbilicus).
(3) Special exam. for neonatal problems
- Prematurity (assess gestational age from H, U/S
during pregnancy, physical & neurological assess.
of newborn in a score as New Ballard, Dubiowtz).
- Search for Congenital anomalies (Cleft lip, limb
anomalies, TEF & imperforate anus)
- Search for Birth injuries

3. Autism and Schizophrenia
I- Infantile Autism (Autistic disorders) II- Childhood
Schizophrenia
Pervasive developmental disorder
characterized by impaired social relationship,
ritualistic, compulsive behavior & language
abnormalities.
Incidence: 1/1000, 3 - 4 times commoner in
males.
Onset: In infancy, but typical diagnosed at 18
mo old.
- During infancy: Poor eye contact, delayed
smile & use of words, narrow range of
interest & spending hours in solitary play.
AE: Multi- factorial:
- Genetic factors play a role.
- Abnormalities in dopamine, catecholamine
& serotonin level or pathways.
Treatment:
Consists of 4 components:
- Promotion: Of normal development.
- Reduction: Of stereotype movements.
- Removal: Of compulsive behavior.
- Alleviation: Of family stress.
● Intensive behavioral therapy: Speech &
language.
● Drugs:
- Comipramine (TCA with SSRIA) is useful in
reducing compulsive behavior & stereotyped
movements.
- SSRIs effective in reducing hyperactivity &
obsessive- compulsive behavior.
Diagnosis:
1- Impaired Social relationship
2- Ritualistic & Compulsive behavior: Rigid
pattern, intense, marked resistance to
change, explosive outbreaks occur when
change is tried.
3- Language abnormalities: Delayed speech,
pronoun reversal, repetition of spoken words.
4- Others: MR, short attention span &
stereotype movements (rocking, finger
twirling or spinning).
- Psychotic disease
characterized by disturbed
thoughts, hallucinations &
delusions.
- Social withdrawal, speech &
language problems are
common but confused with
autism but the presence of
hallucinations, delusions, late
onset of illness & higher
intelligence score differentiate
schizophrenia from autism.
- Childhood- onset
schizophrenia is very rare,
1/10000.
- Adult schizophrenia,
prevalence1 % by its early
onset.
- Auditory hallucinations occur
in 80 %, but delusions &
formal thought disorders don't
occur until mid-adolescence.
- Childhood schizophrenia can
confused with mood disorders
(Major depression, bipolar
disorder).
- Mood disorders are 100 times
more than schizophrenia.
Treatment:
* Typical anti- psychotic drugs
(Haloperidol)
* A typical ant- psychotic drugs
(Clozapine, Risperidone).

4. Cardiac arrhythmias
I- Tachyarrhythmias II- Bradyarrhythmias III- Extra-Systoles
(Premature beats)
1- Sinus tachycardia:
The commonest disorder
- Physiological.
- Pathological.
- Drugs.
2- Supra-Ventricular
tachyarrhythmia:
- Paroxysmal atrial
tachycardia.
- A. flutter.
- A. fibrillation.
3- Ventricular
tachyarrhythmia:
- V. tachycardia.
- V. fibrillation.
1- Sinus bradycardia:
○ Physiological.
○ Pathological.
2- AV block:
○ 1st
degree heart block.
○ 2nd
degree heart block.
○ 3rd
degree heart block.
3- Sick sinus syndrome.
4- A systole.
a) Premature atrial
contraction (PACs):
● Physiological.
● Pathological.
b) Premature
ventricular
contractions (PVCs):
♦ Physiological.
♦ Pathological.
N.B: Lower limit of HR in awake child: Newborn (90 / min.), Infants (100 / min) ,
Young children (80 / min) & Old children (60 / min).

5. II- Non- Mendelian Inheritance (Non-Traditional): Doesn't follow classical pattern of Mendelian
inheritance.
1- Germ line
Mosaicism
2 - Genomic Imprinting: 3 - Mitochondrial Inheritance:
Definition:
Two or more cell lines differ
in genotype derived from a
single zygote.
- After fertilization →
mutation → production of a
proportion of gametes with
the same mutation.
How to diagnose germ-
line mosaicism?
▪ Clinical:
-The disease is dominant
e.g osteogenesis imperfecta
(OE).
-The parents don't have any
evidence of the disease.
▪ Molecular clues:
-Demonstration of a
mutation in the collagen
gene responsible for
osteogenesis imperfecta.
-The precise diagnosis: By
DNA markers, & alpha
satellite probes.
▪ Definition:
Gene on homologous chromosomes were expressed equally,
but now recognized that different clinical features can result
depend on the genetic material that come from the male or
female (Inherited from the father or the mother).
- Used to describe the differential expression of genetic
material.
▪ Pattern of inheritance:
Imprintable allele inherited as Mendelian manner but,
expression of allele is determined by sex.
▪ The action of genomic imprinting: Is to suppress the
imprintable allele (in mother) maternal imprinting → by the
father, (in father) paternal imprinting → by the mother.
▪ Mechanism:
Is thought to involve differential methylation.
▪ Phenomena:
* X - Chromosome inactivation: In sex chromosomal
inheritance.
* Uni- Parental disomy: Chromosome 7 in unexplained short
stature.
* Uni -Parental, Hetero-disomy & Iso-disomy.
* Deficiency of chromosomes or even Small part of
chromosome: Deletion of chromosome 15, if parental → P, if
maternal → A.
* Cancer: Tumor suppression agents → in one copy.
* Several human disorders recognized, their severity depend
on the parent sex transmitting the disease e.g Myotonic
dystrophy (mother), Huntington chorea (father).
* Many cases of skipped generations in human disease
explained by imprinting.
▪ Definition:
Transmission of gene through female only
to all offspring.
▪ Structure and Function of
Mitochondria:
▪ Mitochondrial diseases phenotypes:
▪ Mutation and Genome:
Class I: Occur at nuclear subunit, AD e.g
congenital lactic acidosis, AR e.g KSS.
Class II & Class III: Occur at mitochondrial
subunit, point e,g MELAS, MERF, deletion &
duplication e.g Pearson.
▪ Lab. Diagnosis of diseases with
mitochondrial inheritance:
- Biochemical: Lactic acidosis, cytochrome
–c oxidase.
- Histo-Chemical:
- Electron Microscopic Analysis of
Skeletal Muscle (Raged red fibers):
- Molecular diagnosis: PCR, prenatal
diagnosis is possible.
▪ Therapy:
↑↑ Mitochondrial ATP production by
Carnitine, Ascorbate, Riboflavin & Thiamine
(CART).
4 – Anticipation
5 - Uni- Parental disomy: Uni -parental,
hetero-disomy & iso-disomy.

6. D.D of Convulsions, Seizures & Epilepsy
Convulsions Seizures Epilepsy
Definition:
Involuntary contraction of muscle due to abnormal electrical activity in
cerebral neurons.
Types:
● Acute:
- Febrile: Simple, complex.
- C.N.S infections: Meningitis, encephalitis.
- With other diseases: Gastro-enteritis, Glomerulonephritis or coma.
- 1
st
Epileptic fit
● Recurrent (Epilepsy):
* Idiopathic 80 %, No evident cause.
* Organic 20 % :
1) Genetic: Error of metabolism, neurocutaneus syndromes &
degenerative brain disease.
2) Non genetic: Congenital malformation, perinatal brain insult, &
neonatal / infantile insults.
Character & Type:
Tonic, clonic, tonic- clonic & myoclonic (jerking).
Distribution:
- Focal (Not associated with loss of consciousness),
- Generalized (Associated with loss of consciousness).
Duration & Frequency
Short (15 min.), Prolonged (15-30 min.), Status epilepticus
(lasting > 30 min. Or Recurrent convulsions without Consc. regain), or
Refractory SE.
Effects (Complications): Neurological, respiratory, CVS or metabolic
(hypo's & hyper's)
Acute or Recurrence
Definition:
A paroxysmal, time-limited change in
motor activity and /or behavior that
results from abnormal electrical
activity in the brain.
Incidence:
About 10 % of children
An Epileptic / Seizure Syndrome:
Seizure type that occurs in
association with characteristic. EEG
findings, demographic & prognosis.
Prognosis:
- Generally good, but 10-20 % of
cases has persistent seizures that
resist TTT.
- Mortality risk in people with epilepsy
is 2-3 times greater than that of
general population.
Definition:
A chronic disorder or group of chronic
disorders, in which the main feature is
recurrence of seizures that are
typically unprovoked & unpredictable.
Incidence
- The most chronic disorder of CNS
- Diagnosed when 2 or more
unprovoked seizures occur at an
interval ˃ 24 hs apart.
N.B:
Not all seizures imply epilepsy e.g;
Seizures are self-limited occur during
the course of an acute medical or
neurologic illness & don't persist after
TTT the underlying disorder.
Status epilepticus:
Prolonged seizure lasting > 30 min.
Or A series of seizures without
retaining of consciousness for
> 30 min.
See also Epilepsy table.

7. Evaluation of a Case of Short Stature
History: Examination: Investigations: Treatment:
Perinatal:
- Infection, congenital anomalies
& maternal drugs in pregnancy.
- Body Wt, length, gestational
age & emergencies.
F. H:
Ht, Wt at childhood, social
problems & nutritional status.
Past H:
Systemic illness, (Renal, cardiac,
chest, ..) or endocrinal problems.
© Proportionate:
Exam. of systemic illness, malnutrition,
endocrinopathies & for specific syndromes
(Dysmorphic features, associated problems,
…)
© Disproportionate:
Short limbs:
US / LS ↑↑, Arm span / Ht ↓↓
Short trunk:
US / LS ↓↓, Arm span / Ht ↑↑
N.B:
- US / LS 1.7 at birth, 1.3 at 3 ys & 1 at 7 ys.
- Arm span is 4 cm less than Ht below 7 ys
and = 1 at 7 ys.
○ Skin examination.
○ Head examination.
(1) Bone age:
By x-ray Lt. wrist, usually retarded, normal in
dysplasia & familial causes.
(2) Hormonal assay: GH, T3, ….).
(3) Karyotyping:
Especially in female with extreme short
stature.
(4) Investigations for Chronic systemic
illness:
- CBC: For anemia
- CT & MRI: To detect brain T or
malformations.
- X-ray chest: If suspect T.B
- Urea & Creatinine: In renal impairment.
- Stool A: In malabsorption.
* Of the cause:
1- Hormonal
replacement esp.
GH.
2- TTT of renal,
heart, GIT, …..,
problems.
3- TTT of rickets.
* Supportive:
Good nutrition,
minerals &
vitamins.
* Psychological
support:
In maternal
deprivation.