1.

DOWN SYNDROME

1. Why do you say it is Down syndrome?

This child has got flat face, depressed bridge of the nose, mongoloid slant of the eyes (that is, medial angle of the
eye is lower than the lateral angle), epicanthal folds, low set ears (If we draw a line from the lateral angle of the eye
laterally, normally 1/3 of the ear lobule should be above this line; but, here the ears are below that level)

The hands are short and broad. There is also simian crease (single palmar crease) and clinodactyly (inner curving of
the little finger)

2. What are the common problems they have?

GIT: delayed passage of meconium, duodenal atresia, annular pancreas, closed anus (all these problems usually
present in the neonatal period)

CVS: endocardial cushion defect (most common), VSD, PDA, TOF

Immunity: both CMI & antibody mediated immunity are low; and hence prone for infections.

RS: recurrent respiratory tract infections (because of reduced immunity and slight hypotonia of the pharyngeal
muscles & associated cardiac problems)

Blood: Acute myeloid Leukemia is more common

Endocrine: hypothyroidism.

Bone: atalanto axial subluxation is common

Brain: mental retardation which is usually borderline (with an IQ of about 70)

3. How do they die?

Congenital abdominal problems, cardiac problems, infections & blood malignancies.
4. How will you confirm your diagnosis now?
Karyotyping using peripheral blood; the usual findings are:
a) Trisomy 21 (extra chromosome in 21st pair) in 95% cases

b) Translocation (chromosome material moved from one chromosome to the other) in 4% cases and

c) Mosaicism (presence of both the normal and the abnormal cells) in 1% cases.

5. How can you make the diagnosis of Down’s in the intrauterine period?
a) Triple test in maternal blood (in 2nd trimester pregnancy)

i) Alpha foeto protein (AFP) – low

ii) Unconguated estriol - low

iii) Beta hCG (human chorionic gonadotrophin) - high

b) Quadruple test: In addition to above 3 tests + Inhibin levels: high

c) Integrated test: In addition to a & b – Ultrasonogram evidence of nuchal fold thickness > 4mm. (Integrated
test can detect the Down’s reliably in 96% cases.)

6. Can they marry?

Males: 100% infertility; Females: few menstruate and are fertile.

7. What about their life span?

If they have any complications like leukemia & heart disease, then the life span depends upon the severity of the
complications; otherwise, they generally lead a fairly normal life span.
 8. Parents of Down’s syndrome plan their next pregnancy; how will you counsel?
Counseling should be based on the karyotyping of the baby and both the parents.

a) If the karyotyping shows Trisomy 21 : then the risk for the next baby depends upon the maternal age;
<20 years: risk is 1 in 1500

Around 30yrs: 1 in 1000

Around 35 years: 1 in 500

Around 45 years: 1 in 28

b) If the karyotyping shows Mosacisim, the risk is usually 1%

c) If the karyotyping shows translocation, then we should see between which of the chromosomes the material has
been transferred. If it is 21 to 22 the risk is 1%; if it is 21 to 21, the risk is 100%.
If it is 21 to 14 then we have to see the karyotyping of the parents.

If the translocation is from the Mother, the risk is 10%

Father 2%

Neither <1%

9. What is the most common chromosomal abnormality associated with the mental retardation?
Fragile X syndrome in males.

2. SCABIES

Causative org: sarcoptes scabei, the arachnid mite;

Mode of spread: direct skin to skin contact; fomites (remains viable for 2-5 days on the inanimate objects)

Life cycle: once enters in to the skin, the female mite burrows in to the epidermis using the jaws and front legs; here it
lays about 3 eggs/day; these eggs hatch in another 3 days; the larvae leave the burrow to mature on the skin; again, the
mature organism enters in to the burrow.

Male mite after mating the female dies;

During typical infestation, at least 11 adult female organisms are present in each child.
1. Why do you say it is scabies?

2-5 mm long typical burrows are seen in the warm and moist areas like web spaces of the fingers, flexor surfaces of the
wrists, elbows, axillae, belt line & scrotum.

2. If you are allowed to ask 2 questions to the mother, what will you ask?

a. Presence of intense itching, worst at night

b. Whether any other family members have the same disease

3. What is the hall mark of the scabies infestation?

Intense itching worst at night

4. Why itching should be the prominent symptom in scabies?

Delayed hypersensitivity type IV reaction to the mites, their eggs or scybala (packets of feces)

5. How will you confirm your diagnosis?

The typical symptom of intense itching at night and the typical sign of burrows is enough to confirm the diagnosis.

We can also scrap the lesions and demonstrate the presence of mite and eggs with light microscope.

6. Name the topical drugs available to treat the scabies?

5% Permethrin, 25% benzyl benzoate, 1% gammabenzene hexa chloride, sulfur with petrolatum.
7. Is there any oral drug to treat scabies?

Yes! Ivermectin; single dose is enough; a second dose may be necessary after 1 week. (Dose: 0.02 mg/kg single dose)

8. How will you treat scabies?

a. Topical application of scabicides like 5% Permethrin for the child as well as for all the family members (blanket
therapy); medicine should be applied from chin to toes; if there are any crusts, crusts should be removed
before the application of medicine; bath should be taken after 12 hours. A second application may be
considered after 1 week.
b. All the clothes of the affected children should be washed in warm water to kill the mites present in them
c. An antihistaminic can be given to control the itching
d. If the child has associated secondary bacterial infection (staph aureus or streptococcus) erythromycin or
cloxacillin has to be given

9. What are the complications of the scabies?

a. Immediate complication: secondary bacterial infection, leading to fever, regional lymphadenitis
b. Delayed complication: AGN 4-6 weeks after the onset of secondary bacterial infection.

10. What is Norwegian scabies?

It is severe scabies infestation with crustation or hyperkeratotic lesions; it usually occurs in mentally retarded children or
physically debilitated children like those with leukemia.

11. What is nodular scabies?

Pink, brown or red nodules if present in the lesions, it is called as nodular scabies; occurs in 7% of scabies patients.

12. What is canine scabies?

Caused by sarcopetes scabie var canis, the dog mite. It can occur in those children who are cuddling a puppy; in this
infestation, burrows are not present.

3. PYODERMAS

1. What are the different types of Pyodermas?

A. Primary pyodermas: occurs in the normal skin

B. Secondary pyodermas: occur on pre-existing eczema, cuts, pediculosis, etc

A. PRIMARY PYODERMAS:-

They are again divided in to non-follicular and follicular types.

i) Non-Follicular pyodermas:-Impetigo, ecthyma, cellulits & erysipelas

ii) Follicular pyodermas: Folliculitis (superficial and deep), furuncle & carbuncle.

i). NON-FOLLICULAR PYODERMAS:-

a. Impetigo: it is a superficial pyogenic skin infection; morphologically, there are two forms of impetigo;

Impetigo contagiosa:

Causative org: group B beta hemolytic stretptococci

Initially, vesicle or pustule occurs, which gets ruptured resulting in thick honey coloured crust.

If severe, regional lymphadenitis and fever can occur.

AGN can occur after 4-6 weeks.

Treatment: erythromycin or penicllin orally;

GV paint, neomycin, fusidic acid or mupirocin topically

Impetigo bullosa:

Causative org: staphyloccus aureus

Transparent bullae of 1-2 cm with clear fluid occurs; central healing can result in honey coloured crust

Circinate lesions are formed because of central healing and peripheral extension

Bullous impetigo may spread and become generalized

Treatment: pencillinase resistant penicillin like cloxacillin orally;

GV paint, neomycin, fusidic acid or mupirocin topically

b. Ecthyma:

Causative org: group A beta hemolytic streptococci

Basically a deeper form of impetigo; usually seen on legs.

Brown coloured crusts appear, which on removal will show punched out ulcers

Lesions slowly heal, leaving behind scars.

c. Cellulitis:

Causative org: group A beta hemolytic streptococci

It is infection of the subcutaneous tissue; often follows a furuncle or wound;

Lesion is characterized by diffuse erythema, edema, swelling and tenderness; the edges are indefinite; may develop
pustules on top.
Associated lymphangitis and lymphadenopathy are quite marked

Never involves the pinna, because skin firmly bound to underlying cartilage and hence no subcutaneous tissue.

d. Erysipelas:

Causative org: group B betahemolytic streptococci

It is cellulits involving the superficial dermal lymphatics

It is superficial acute inflammatory condition than cellulits, so edges are well defined.

This may involve the pinna (Milian’s sign)

ii)FOLLICULAR PYODERMAS:-

They are inflammatory reactions occurring around the hair follicles.

Staph aureus is the main causative organism involved.

a. Folliculitis:-
Folliculitis is of two types- superficial and deep.

Superficial folliculits (Impetigo of Bockhart):_

Small pustules surrounding the hairs; often seen in scalp and extremities. No scarring or permanent loss of hair.

Deep folliculitis:

It is deep seated follicular infection; clusters of papules and pustules occur; on healing results in scarring and permanent
loss of hair.

b. Furuncle:-
It is a necrotic infection of a hair follicle characterized by a tender, red perifollicular swelling (nodule) which later bursts
open discharging pus and necrotic core.

It usually, occurs in the areas of friction.

Multiple lesions are possible in diabetics & malnourished children.

 c. Carbuncle:
A cluster of furuncle forms a carbuncle.

They are deep, extremely painful infection with multiple heads; on rupture, forming multiple draining sinuses;

Nape of the neck is the common site; always rule out diabetes.

Diagnosis of Pyodermas:

Gram stain: may demonstrate staphylococci and streptococci; culture and sensitivity can also be done.

Treatment of Pyodermas:-

Topical antibacterial agents: gentian violet, neomycin, fusidic acid and mupirocin

Systemic antibacterial agents are indicated in

- extensive lesions of pyoderma

-erysipelas, cellulites, carbuncle, furuncule

Streptococcal infection: penicillin or erythromycin

Staphylococcal infection: cloxacillin

These antibiotics are usually given for 7 to 10 days.

2. Why do you say it is pyoderma? Which type of pyoderma it is? See above

3. What are the common organisms that cause pyoderma?

Staphylococcus: (usually causes bullous lesion)

Group A Beta hemolytic streptococci, Group B streptococci (or streptococcus pyogenes)

4. What are the complications of pyodermas?

Local spread: superficial infections might penetrate deeper causing, cellulitis

Regional spread: Lymphangitis, Lymphadenopathy

Systemic spread: In immunocompromised children and in newborn: septicemia & shock

Delayed complication: after 4-6 weeks: PIGN, in case of streptococcal infections.

5. How will you manage the pyodermas?

Topical antibacterial agents: gentian violet, neomycin, fusidic acid and mupirocin

Systemic antibacterial agents: indicated in

- for extensive lesions of pyoderma

- for erysipelas, cellulites, carnuncle, furunculosis
Oral or Parenteral drugs: Streptococcal infection: penicillin or erythromycin; Staphylococcal infection: cloxacillin

6. How to prevent the child from developing further similar episodes?

Improvement of hygiene, regular bathing, use of antiseptics,….

4. MANTOUX TEST

1. How to perform this test?

Usually given intradermally in the flexor aspect of the left forearm (this site is chosen conventionally just for uniformity).

Dose: 0.1 ml containing 2 units of Purified Protein Derivative (PPD)

Reading is taken after 48 to 72 hours (If they report to us only after a week, and if you note that the reaction is positive,
you can always consider it as positive)

Only the induration and not the erythema should be considered.

While reading the induration, the horizontal width is taken. If the induration is >10mm, we can take it as positive. If it is
5-10mm, it may be due to the effect of BCG vaccination given at birth.
2. What are the causes for false negative results?

Malnutrition, recovering from Measles, severe forms of Tuberculosis like Miliary; but, the most common cause is faulty
technique of administration of drug.

3. How to make sure that you have administered the drug intra-dermally?

It should raise a wheal of about 5 mm and the hair follicles should be seen as puckerings.

4. What is the usefulness of this test?

Positivity indicates the presence of TB infection but not disease.

5. What are the methods to diagnose TB?

H/o contact, Mantoux test, Chest X Ray, sputum (Early morning gastric juice in case of young children) for AFB to be
done for all children suspected to have TB. If there is matted lymphadenitis, FNAC of the LN can be done ; if there is
suspicion of CNS Tuberculosis, CSF analysis can be done.

6. Who are all should receive TB preventive therapy? What is the dose?

TB preventive therapy should be provided to:

a. All asymptomatic contacts (under 6 years of age) of a smear positive case, after ruling out active disease and
irrespective of their BCG or nutritional status.
b. Chemoprophylaxis is also recommended for all HIV infected children who either had a known exposure to an
infectious TB case or are Tuberculin skin test (TST) positive (>=5mm induration) but have no active TB disease.

c. All Mantoux positive children who are receiving immunosuppressive therapy (e.g. Children with nephrotic syndrome,
acute leukemia, etc.).
d. A child born to mother who was diagnosed to have TB in pregnancy should receive prophylaxis for 6 months,
provided congenital TB has been ruled out. BCG vaccination can be given at birth even if INH chemoprophylaxis is
planned.
The dose of INH for chemoprophylaxis is 10 mg/kg (instead of currently recommended dosage of 5 mg/kg) administered
daily for 6 months

6. Suppose after Mx if the child reports only after 7 days, and on the injected site nothing is seen. Can you repeat Mx
and how do you do it?

It can be repeated at the same site (flexor aspect of left forearm) after 3 months.

Before that period, if we want to repeat, it can be done on the right forearm any time. It will not interfere with the
results.

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5. BITOT’S SPOT

1. Why do you say it is Bitot’s spot?

Dirty white foamy or greasy appearing triangular area on the lateral aspect of the eye. It is usually seen in both the eyes.

2. What it is due to?

Heaped up, sloughed off keratinized cells & saprophytic bacilli, which collect on conjunctival surface; it is due to Vitamin
A deficiency.

3. If it is seen in the medial aspect of the eye, what does it indicate?

More advanced deficiency.

4. According to WHO classification how bitot’s spot is signified?

X1 B

5. What is WHO classification of vitamin A deficiency?

XN- Night blindness

X1A conjunctival xerosis

X1B Bitot spots

X2 corneal xerosis

X3A corneal ulceration/keratomalacia <1/3 corneal surface

X3B >1/3 corneal surface

XS corneal Scar

XF xerophthalmic Fundus

6. How will you treat Bitot’s spot?

3 doses of 2 lakhs of Vit A (retinol palmitate) in oil orally.

First on Day1

Repeat dose on day2

Repeat dose on day 14.

Amount of drug in each dose: < 6 months: 50,000 units; 6months – 1 year: 1,00,000 units; >1 year: 2,00,000 units.
7. After treatment, how will you prevent this child from developing Vit A deficiency in future?

First, we have to tell the mother to give vit A rich foods like carrots, papaya & mango; green leafy vegetables like
drumstick leaves, egg, milk, fish….

Secondly, if the child’s age is less than 5 years, we should advice the mother to take the child to the nearby PHC for vit A
doses as prescribed by vit A prophylaxis programme.

8. Is there any Government programme in India to prevent Vit A deficiency?

Yes! It is Blindness control programme. According to this programme, any child is given 7 doses of vit A rentinol
palmitate in oil. First dose is given at 9 months, when the child is brought for measles vaccine. Second dose is given at
1 ½ years along with DPT first booster. Thereafter, 5 doses are given 6 monthly. (2, 2 ½, 3, 3 ½ , 4 , 4 ½ & 5 years). (But,
because of the lack of availability, now only 5 doses are given; up to 3 years)

9. What is the first symptom of vit A deficiency?

Night blindness (decreased vision in dim light; adaptation of the eye in dark will be very late and may not be effective)

10. What is the first sign of vit A deficiency?

Conjunctival xerosis.

11. What is the serious complication of vit A deficiency and when will you expect that complication?

Loss of vision; when the patient has keratomalacia

12. What are the causes of vit A deficiency?

 a) lack of eating foods rich in vit A
b) Pancreatic diseases
c) Hepatic diseases
d) Mal absorption
In b, c & d vit A absorption or metabolism is altered.

12. What are the extra ocular manifestations of vit A deficiency?

a) Phyronoderma or follicular hyperkeratosis or toad ski n (seen on the back of elbow, front of knee, over the
shin..)
b) Increased susceptibility to infections due to squamous metaplasia of respiratory, urinary and vaginal epithelium
c) Increased incidence of renal & vesical calculus.

13. How will you confirm the diagnosis of vit A deficiency?

Serum retinol level < 20mg/100ml.

Conjunctival impression cytology: detects early loss of vitamin A dependent, mucin secreting goblet cells & early
metaplasia of the epithelium.

14. What are the complications of vit A overdosage?

Acute: Nausea, vomiting, drowsiness, symptoms of ICT and Papilloedema

Chronic: anorexia, failure to thrive, alopecia, sebohhoric dermatitis, hepatomegaly and tender bone swelling

15. What will happen if the Betacarotene is consumed in large amounts?

It is relatively safe; none of the symptoms of vitamin A toxicity usually appear. But, the skin may be stained yellow-
orange, which is benign and gets reversed with treatment. (In jaundice, the sclera appear yellow; but here the sclera
appear normal)
16. What is the normal recommended intake of vit A in India?

Infants: 350 mcg of retinol

Preschool: 400

School children & adolescents: 600

Note: 1 International unit is equal to 0.3 mcg of retinol.

17. What is the incidence of Bitot’s spot in India?

0.7 % of preschool children;

All age groups: incidence is 0.21 %

18. What % of the blindness is attributed to Vit A deficieny in India?

0.04 %

Other causes for blindness are: cataract, injury to eye.

19. What is the role of Vit A in our body?

Functioning of the retina for vision depends on vit A.

Integrity of epithelial tissues depends on vit A.

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 6. MICROCEPHALY
1. What is the definition of microcephaly?
Defn: Head circumference > 3 standard deviations below the average for the age and sex. So, for correct interpretation
we should know the age and sex. Then, we should compare with the standard charts like CDC 2000 (centre for disease
control formulated in the year 2000).

But, it is generally calculated like this; the HC at birth is roughly 33cm to 35 cm;

From birth to 3 months: the increase is 2 cm / month.

From 4th month to 6th month: the increase is 1 cm/month

From 7th month to 12th month: the increase is 0.5 cm/month

If we calculate like this, the head circumference at 1 year will be roughly 47 cm.

2. What are the two causes for reduced head circumference? How to differentiate?

Microcephaly and Craniosynostosis (premature fusion of sutures)

To differentiate, we have to palpate the sutures; in microcephaly, the inter-sutural distance will be normal (roughly 0.5
cm). In craniosynostosis, the sutures are united and so ridging can be appreciated.

3. In the new born, normally, there will be moulding (over riding of sutures). How to distinguish this moulding from
craniosynostosis?

By fluctuation; we have to keep our fingers on either side of the suture and we should try eliciting fluctuation;
fluctuation will be positive in moulding. Because sutures are united, in craniosynostosis, the fluctuation will be negative.

4. What are the causes for microcephaly?

Aetio: i) Primary(Genetic):-Aurosomal recessive microcephaly, autosomal dominant microcephly & microcephaly due

to Syndromes(Down, Edward, cri-du-chat)

 iii) Secondary(Non-genetic):- Maternal insults like Radiation, TORCH, Alcohol, Hydantoin & Diabetes
Hypoxic ischaemic encephalopathy.

Another classification:

i) Congenital - present at birth

ii) Acquired (HC at birth will be normal; insults like Hypoxic ischemic encephalopathy, severe CNS infections in the
neonatal and early infancy period)

5. What is the cause for craniosynostosis?

Always congenital; it is said to be primary when the sutures themselves are abnormal; it is secondary when the brain
matter is abnormal

6. What are the usual problems with which microcephaly children present to us?

Seizures, delay in the milestones;

Rarely, mother might bring the child just for small head alone.

7. How can you treat the microcephaly?

Nothing much can be done; if the child has developmental delay, physiotherapy can be done. Occupational therapy can
be instituted.

7. NEURAL TUBE DEFECTS:-

1. Why neural tube defects occur?

Failure of the neural tube to close spontaneously during the 3 & 4 th weeks of gestation.

2. What is the aetiology of NTD?

Folic acid deficiency, drugs (sodium valproate) & genetic factors.

3. What are the different types of NTD?

There are 5 types of NTD:

a) Spina bifida occulta: Defect in the vertebral body- Usually,Lumbosacral region

Usually, asymptomatic; some may have tuft of hair, lipoma, dermal sinus.

b) Meningocele : Outpouch of skin & meninges

c) Myelo meningocele: Outpouch of skin, meninges & neural element. Common in lumbosacral area
Low sacral area: only bowel and bladder incontinence& anaesthesia in perianal area

Lumbar area: bowel and bladder incontinence, lack of response to touch & pain, LMN paralysis of Lower
extremities

Upper thoracic & upper Lumbar area: no neurologic deficit, no hydrocephalus.

d) Encephalocele : Outpouching of dura with/without brain-usually, occipital/cervical

e) Anencephaly: Cranial vault and posterior occipital bone are defective. Cerebral hemispheres, cerebellum,
pyramidal tract are absent; brainstem residue is +; pituitary is hypoplastic.

4. How will you make prenatal diagnosis of NTD?

Since the neural tube communicates freely with the amniotic fluid, substances like alpha protein and acetyl
cholinesterase are excreted in to the amniotic fluid serving as biochemical markers of NTD.

Maternal serum: raised AFP; Amniotic fluid: AFP, Acetyl cholinesterase

5. How will your prevent NTD?

Folic acid 0.4 mg –start 1 month before conception & continue for 3 months after gestation; If one sibling is already
affected, then the dose is 10 times (4 mg).

6. At what weeks of gestation, Neural tube defects occur?

By around 4 weeks of gestation

7. What are the problems of NTD?

Risk of recurrent meningitis.

Neurological deficits in the legs, incontinence of bladder and bowel

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8. NEWBORN EXAMINATION

A. Normal new born

B. Preterm baby
C. Icterus baby
D. IUGR baby

1. What are the average anthropometric measurements of a normal term newborn baby, born in India?

Weight: 2800 to 3000grams; Length: 50cm; Head circumference:33-35cm.

2. What are the 5 C’s you have to take care during delivery?

Clean surface, clean hands, clean cord tie, clean cord cut & clean cord stump.

3. Immediately after the delivery of the normal baby, which is the first essential care?

To give warmth to the baby; next is giving breast feeds.

4. What are the 4 ways in which a new born baby can lose heat?

a) Evoparation (of amniotic fluid from surface) : so, wipe off the amniotic fluid fast
b) Conduction (to the surface on which the baby is placed); so receive the baby in a prewarmed towel.
c) Convection (of air currents) : hence, close the windows
d) Radiation (to the cooler objects in the room ; like cool wall); keep the room warm

5. What is erythema toxicum of newborn?

It is erythematous rash all over the body, which is benign

6. What is the definition of a term baby? / What is the gestational age of the term baby?

Completed 37 weeks (37X7= 259days) to 42 weeks (42X7 = 294 days)

7. How to distinguish a preterm from a term baby?

By New Modified Ballard scoring system; it has got two types of criteria.

The physical criteria in a preterm consists of:

1. Skin : soft, with prominence of subcutaneous veins

 2. Lanugo : foetal hair may be more (best appreciated on the back)
3. Ears: soft, slow recoil
4. Breast: nodule size <5mm
5. Genitals:
males: scrotal rugosity less; testes would not have descended in to scrotum.

females: labia majora would have not fully covered labia minora

6. Soles: creases are present only in anterior 1/3 part

The other criteria is Neuromuscular criteria which assesses the muscle tone predominantly.

8. What are the problems a preterm baby can have?

• RS: hyaline membrane disease, apnea of prematurity

• CVS: PDA
• Abd: NEC
• CNS: IVH
• Blood: anemia, hyperbilirubinemia
• Metabolic: hypoglycemia, hypocalcemia
• Immunologic: depressed; hence, prone for infections
• Temperature regulation: hypothermia
• Nutritional: feeding intolerance

9. What are the features of intrauterine infections that can be present in the newborn?

IUGR, microcephaly, macrocephaly, visual defects, hearing defects, hepatosplenomegaly, cardiac defects, anemia,
jaundice….

Congenital Rubella syndrome: triad (microcephaly, cataract & deafness); the most common cardiac defect is PDA.
10. What is meant by an IUGR baby?

A baby whose birth weight is below the 10 th percentile for that period of gestation is called as IUGR baby.

It can be symmetrical or asymmetrical;

When the weight, head circumference & length are equally affected then it is a symmetrical IUGR; it is usually due to an
insult to the foetus in the early gestation.

When weight and/or length alone are less, it is asymmetrical IUGR.

11. Clinically how to make the diagnosis of an IUGR baby?

Weight will be less; subcutaneous tissue will be less; skin may be little loose. So, skin folds may be seen in the inter-
trignous areas

12. What are the problems an IUGR baby can have?

Meconium aspiration, hypoglycemia, birth asphyxia, olycythemia, hyperbilirubinemia ,Pulmonary hemorrhage

13. Define physiological jaundice of new born.

TERM (completed 37 wks): jaundice appears after 24hrs of life

peaks around 3rd day(peak levels are <12mg%)

disappears by 7th day

PRE-TERM:

jaundice appears after 24hrs of life

peaks around 5th day (peak levels are <15mg%)

 disappears by 14th day.

Remember: In physiological jaundice, ELEVATION is ONLY IN UNCONJUGATED BILIRUBIN.

14. Define pathological jaundice of newborns?

Jaundice appearing before 24 hours

Jaundice which do not disappear on 7 th day of life in terms ; 14th day in preterms

Serum Bilirubin >12 mgs% in terms and >15 mgs% in preterms, on any day of life.

Rise of Bilirubin levels >0.5 mgs% /hour

CONJUGATED BILIRUBIN > 2mgs% on any day

15. What is krammer’s criteria?

Jaundice appears to progress from head to foot; this criteria gives the approximate biirubin values based on clinical
finding:

 FACE,NECK - 5 mgs%

 UMBILICUS -10 mgs%

 KNEES- 12mgs%

 ANKLES-15 mgs%

 SOLES OF FEET- >15mgs%

16. Why jaundice appears in cephalocaudal direction?

Subcutaneous tissue is less in the upper parts; hence, it is easily visible in those areas even if the serum bilirubin levels
are slightly elevated.

Another explanation: the bilirubin albumin complex is loose and bilirubin gets separated and deposited in the skin
during its travel. In the proximal areas, more deposition occurs than in the distal areas.

17. What are the early clinical signs of kernicterus?

Weak moro reflex, poor tone, lethargy, & high pitched cry

18. Name some causes for unconguagted hyperbilirubinemia?

- Physiological Jaundice
- Cephalhaematoma
- ABO incompatibility
- Rh incompatibility
- Hypothyroidism
- Septicemia
- RBC Structural abnormalities
- RBC Enzyme deficiencies
- Criggler-Najjar syndrome

19. What are the minimum investigations necessary in a jaundiced new born?

- Serum bilirubin (total and direct)

- Hematocrit
- Reticulocyte count
- Blood group of mother and the baby
- Direct coombs test (baby’s blood)
- Peripheral smear
20. What are the treatments available for unconjugated hyperbilirubinemia?

- Phototherapy
- Exchange transfusion
- Phenobarbitone – 5mg/kg/day (increases ligandin, stimulates UDPG-T activity)

21. How phototherapy works?

- 4 Blue bulbs and 2 white bulbs

- Baby is kept at a distance of about 45 cms
- Light rays with the intensity of 450nm does the change.
- HOW IT HELPS:
a) Photo isomerisation : 4Z,15 is converted to 4Z,15E which is less toxic: this rection is very fast; this is the main
mechanism by which toxicity is reduced.

b) Bilirubin is converted to Lumirubin, which is easily excreted; this is the main mechanism by which serum bilirubin
levels come down.

c) Photo oxidation - not very useful

REMEMBER: PHOTOTHERAPY WORKS ONLY FOR UNCOJUGATED HYPERBILIRUBINEMIA; if phototherapy is given for
conjugated bilirubin, it is not effective; also, it results in Bronze Baby Syndrome (a pigment is produced which gets
deposited on the skin)

22. What precautions should be taken while giving phototherapy?

- Cover the eyes (possibility of Retinal damage)

- Cover the genitals in males (possibility of testis damage)
- Make sure the child is well hydrated (Insensible water losses increase)
- Beware of Bronze Baby Syndrome
23. How exchange transfusion is done? How it helps?
- Double volume exchange (double the quantity of blood volume is used) is done through umbilical vein; the
technique is “Pull and Push technique”.
It removes Bilirubin mechanically

24. What is breast feeding jaundice?

Breast feeding jaundice: due to dehydration and increased entero hepatic circulation; manifests as higher peak
serum bilirubin level in the first few days;

Breast milk jaundice: jaundice in the second week of life– due to intermidiary substances present in the breast milk
like pregnanediol and free fatty acids that interfere with bilirubin conjugation;

25. What is hemolytic disease of newborn?

When the maternal antibodies cross transplacentally, they get attached to the RBC antigens, resulting in RBC
destruction. As a compensation, marrow over works for some time; later marrow fails and hence, severe anemia with
cardiomegaly, anasarca, and circulatory collapse results. This is HDN; and the severely affected baby with anasarca is
called as Hydrops foetalis.

There are 60 antigens-Rh, ABO, Kell,… ; any antigen can cause HDN.

26. What is Hydrops foetalis?

Excessively abnormal fluid in any 2 or more fluid compartments-pleura, pericardium, peritoneum placenta, amniotic
fluid; Death in utero or shortly after birth.

Many different etilogies-HDN, structural CVS defects, severe arrythmias, structural lung defects,…..
 27. What is pathological conjugated hyperbilirubinema in new born?

When the serum conjugated bilirubin > 2mgs%; it is due to obstruction of biliary pathways anywhere between the
hepatocyte and the duodenum; the neonate usually has pale stools & dark urine. Since, bile is necessary for the
absorption of vitamins A, D, E & K, their deficiencies result.

Common causes - TORCH Infections (Neonatal hepatitis) and Extrahepatic biliary atresia

28. What vitamin is given immediately after birth? Why?

Vitamin K; because, breast milk lacks vit K;

There is a possibility of hemorrhagic disease of newborn even in normal babies.

Vitamin K deficiency in new born can present in 3 ways:

a) Early type: presents within 24 hours- when the mother is on anticonvulsants (phenytoin, barbiturates
and carbamazepine), anti tubercular drugs & vit K antagonists like warfarin.
b) Classical : after1 day to 1 week of life- usually, results in GI bleed.

c) Late: anytime after 1 week of life (idiopathic, cystic fibrois)

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9. ANEMIA

1. Why do you say it is anemia?

Pallor is present in the palpebral conjunctiva, mucous membranes of the mouth and tongue and in the nails. (If
koilonychia is present, say that also)

2. Could it be hemolytic anemia?

If icterus is present, the answer is yes!
 3. What are the possible symptoms of anemia?
Easy fatiguability, tiredness, breathlessness on exertion (decreased O2 carrying capacity of blood)

Decreased school performance (MAO enzymes depend on iron)

If severe, cardiac failure (with pedal oedema can occur)

4. What are the minimum investigations to be done in this child?

Hb- to know the degree of anemia

Peripheral smear- to know the type of anemia (microcytic, macrocytic, normocytic)

Retic count: to find out whether the marrow is able to respond to the anemia. (normal retic count is <2%)

Stool examination for the presence of hook worm ova (anchy ova)

5. What are the other possible investigations in iron deficiency anemia?

There are actually 3 sequential changes in the development of iron def. anemia

a) First stage: Depletion of iron stores:

-absence of stainable iron in Bonemarrow

-reduced serum ferritin <1500 mcg/dl or 15mgs/dl

-elevation of red cell width (>15%)

b) Second stage: Preanemic or latent iron deficiency:

-decrease in serum iron <75 mcg/dl

-increase in TIBC >470 mcg/dl

 -decrease in transferrin saturation (<12% in infants & <14% in others)

c) Third Stage: Frank anemia:

-significant fall in serum iron <30 mcg/dl

-fall in MCV (<75 fl) & MCHC (<30)

-increase in RBC Protoporphyrin

-hypochromic microcytic P.S.; fall in Hb & PCV.

Some of the tests are altered due to the presence of inflammation, liver disease, diurnal variations and recent iron
intake; a low MCV with high RDW is strongly suggestive of IDA.

6. What is the definition of anemia?

Reduction in RBC number or in Hb concentration to a level that is more than 2 S.D., below the mean leading to
reduction in oxygen carrying capacity of blood and hence tissue hypoxia. By this definition, about 50% of our Indian
children are anemic.

7. What should be Hb level to say that a particular child is anemic?

WHO criterion for diagnosis of anemia:

Children 6 months – 6 years: less than 11 gms%

Children 6-14 years: less than 12 gms%

Adult males: less than 13 gms%

Adult females (non-pregnant): less than 12 gms%

Adult females (pregnant): less than 11 gms%

WHO criterion for severity of anemia:

Mild anemia : up to 10 gms%

Moderate anemia: less than 10 to 7 gms%

Severe anemia: less than 7 gms%

8. How will you manage this patient?

Depending on the peripheral smear report, the management should be done.

If it is hypochromic & microcytic anemia, it could be iron deficiency anemia

If it is macrocytic, it could be due to folic acid and vitamin B12 deficiency.

If it is normocytic then we have to see the retic count; if the retic count is high, it could be due to blood loss or
hereditatory hemolytic anemias like Hered spherocytosis; if the retic count is low, it could be due to marrow
hypoplasias.

9. Which type of anemia is common in India? Why it is so?

Iron deficiency anemia is common; the causes are:

Preterm delivery (delivered before adequate iron stores was build up in the body)

Not practicing exclusive breast feeding (the bioavailability of breast milk is very high)

Delayed weaning;

Faulty weaning (weaning with iron deficient foods)

Hook worm infestation

10. How will you manage a case of iron deficiency anemia?

a) In severe anemia (Hb <5 gms%), give packed cells.

b) In moderate and mild anemias: Oral iron-Elemental iron 3-6 mg/kg/day- usually, ferrous salts-
(Highest elemental iron: ferrous sulphate-anhydrous form-37%)

usually 1 hour before food in empty stomach; also give Vit C 50 mgs, as it

increases iron absorption by two fold. Oral iron therapy is usually for 4 months

(2 months for the Hb levels to normalize; Iron has to be given for another 2

months, to build up the stores.)

c) Albendazole single dose (400mg stat if the child’s age is 2 years & above; <2yrs: 200 mg single dose)
d) Advising the mother to give iron rich food stuffs;
Dietary iron comes from two sources:

i) Heme iron present in meat, fish & poultry; absorbed well and not influenced by dietic factors.

ii) Non-Heme iron-present in pulses, Green Leafy Vegetables, dates and jaggery.

Note: Parenteral iron is usually not tried in Pediatric age group.

10. When will be response to oral iron therapy?

First 24 hours: increase in appetite & improvement in mood (due to replacement of iron enzymes)

On 2nd day: bone marrow response - erythroid hyperplasia

On 3rd day: Reticulocytosis starts-peaks at 5-7 days.

4-30 or 60 days: Increase in Hb level (by 2 months, Hb levels normalize)

Further 2 months of oral iron is necessary to replenish the stores.

11. How will you prevent iron deficiency anemia in children?

Preterm & LBW infants should be given oral iron from 31 st day of life.

Exclusive Breast feeding should be given for 6 months, following which iron rich weaning foods should be given.

For control of hook worm infestation: improve hygiene, periodical deworming (may be once in 6 months)

Anemia control programme:

6-36 months: 1 tab (20mg of Fe +100mcg of F.A): 100 tablets per year

Adolescents (no anemia): 1 tab (100mg+500mcg+25mg Vit C)- 100 days in a year.

Adolescents with anemia: 2 tablets per day for 100 days in a year.

Pregnant adolescents: 1 tab per day from 2 nd trimester, till delivery.

Lactating adolescents: 1 tab all through lactation.

Fortified salt: elemental iron 1 mg/gram of salt.

12. What are the normal iron requirements?

Requirements of Iron:

Total iron present in the newborn is about 75mg/kg body weight.

Throughout the childhood, about 0.8 mgs% is added up every day;

During adolescence, additional 0.8mgs% is required.

After attaining menarche, additional 0.3mgs% is required.

During 1st trimester pregnancy, the requirement is 0.8mgs% only.

During 2nd & 3rd trimesters, the requirement is 6.3mgs%

The total amount of iron present in an adult is 4-5gms%.

13. a) Where all hypochromic, microcytic anemia is possible?
b) How will you differentiate iron deficiency from them?

a) Iron deficiency, Thalassemia, Chronic disease, Lead poisoning & Cupper deficiency

b)

Iron deficiency Thalassemia

RDW high Normal

PS MCV gets corrected with oral Not so

iron

PS Nucleated red cells less High

Serum iron and ferritin Less More

While correcting the iron deficiency anemia, if the Hb levels do not increase above 8-9 gms%, consider underlying
chronic infection, which might also show hypochromic RBCs; to differentiate estimate serum ferritin levels; it is low in
iron deficiency (<15mgs%)

Note: RDW is the coefficient of variation of red cell volume distribution; it is the objective documentation of subjective
anisocytosis. Normal range is 11.5 to 14.5

14. Anemia between 6months to 1 ½ years; what are the two common causes?

Iron deficiency anemia and thalassemia.

15. How will you confirm the diagnosis of thalassemia? How you will treat them?

Electrophoresis confirms the diagnosis

Hypertransfusion (giving packed cells every month) is the treatment

Desferrioxamine parenterally or deferriprone orally has to be given to prevent iron overload from repeated blood
transfusions.

16. Other than iron deficiency, what are the other common nutritional anemias?

Folic acid deficiency and B12 deficiency; in both of them macroovalocytosis (MCV increased), hypersegmented
neutrophils (3% neutrophils with more than 5 lobes) are present in the peripheral smear.

Treatment of folic acid deficiency: 1 to 5 mgs of folate for 2-3 weeks; this should be followed by the daily requirement
doses (100 to 200 mcg/day); folic acid rich food stuffs are fresh leafy vegetables, legumes, nuts and meat.

Treatment of Vit B12 deficiency: 100 to 200 mcg given IM on alternate days or oral dose of 100mcg/day for 2 to 3
weeks; this should be followed by daily requirements (0.3 mgs/day in infancy; 3 mgs/day at 14 years); B12 rich food
stuffs are: animal tissues and milk.

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10. JAUNDICE

1. Why do you say it is jaundice?

Bulbar conjunctiva is yellow in colour.

2. Where all you will look for jaundice?

Base of the tongue, hard palate & soft palate
 3. What are the 3 types of jaundice? Name some common causes for each of them.
a. Hemolytic jaundice:
Intra corpuscular defects:

i. Hered. red cell enzyme deficiency: G6PD def, PK def, Hexokinase def,
ii. Hered. defects of RBCmembrane: Hered. Spherocytosis, elliptocytosis.
iii. In effective erythropoiesis: Thalassemias
iv. Haemoglobinopathies: sickle cell, Hb C, D, E.
Extra corpuscular defects:

i) Immune hemolytic anemias: auto immune

ii) Infections: malaria, disseminated TB
iii) DIC, HUS.

b. Hepatocellular jaundice: viral hepatitis, hepatotoxic drugs, autoimmune hepatits

c. Obstructive jaundice: extrahepatic biliary atresia and neonatal hepatitis in the newborn; gall stones in the older
children.

4. Depending on the colour of the jaundice, can you guess what type of jaundice it is?
Lemon yellow: hemolytic; greenish yellow: obstructive; orange yellow in hepatitis

If scratch marks are seen, we can think of obstructive jaundice;

5. Why itching is common in obstructive jaundice?

Deposition of bile salts irritating the nerve endings present in the skin.

6. How will you treat itching?

Choleretics like UDCA, cholestyramine; opioids can also be tried
 7. Tell some causes of jaundice with fever and how you will differentiate them?
Viral hepatitis especially type A

Malaria

Typhoid fever

Leptospirosis

Viral hepatitis A: fever, nausea, vomiting for 3-5 days; followed by disappearance of these symptoms and appearance of
jaundice. O/E hepatomegaly+; IgM anti HAV antibodies in the serum confirm the diagnosis; (but it is not routinely done);
most of them recover in 4-6weeks; 1% of them could go in for liver cell failure. They never go in for chronic hepatitis.

Malaria: H/O fever with chills with typical intermittent fever pattern; O/E anemia, hepatomegaly, splenomegaly (firm)
usually present; peripheral smear is diagnostic;

Typhoid fever: H/O fever for 1-2 week duration with soft splenomegaly and hepatomegaly; Blood culture is the best
method to confirm the diagnosis.

Leptospirosis: conjunctival congestion and severe myalgia are usually associated. Microscopic agglutination test
suggests the diagnosis.

8. What are the liver function tests you will do?

Enzymes: SGOT (ALT), SGPT (AST) increases markedly in hepatitis

SAP increases markedly in cholestasis

Bilirubin: Unconguated and Conjugated;

Unconjugated: increases in hemolysis

Conjugated: increases in cholestasis

Both increase in hepatitis

Prothrombin time: detects the synthetic function of the liver; prolonged in severe liver diseses

Serum albumin: decreases in chronic liver disease (the duration of the liver disease should be >1month)
Serum glucose levels: decreases

9. What are useful serological markers in hepatic B infection?

The first serological marker to appear is Hbs Ag. (usually becomes + after 2-5months of infection)

Serological marker which is associated with highly infectious stage: Hbe Ag

Most valuable serological marker of acute Hepatitis B infection is Anti Hbc antibodies

The serological marker present in the vaccinated children is anti Hbs antibodies (after natural infection, in addition to
antiHbs antibodies, anti Hbc antibodies are also present)

10. What are the investigations to be done to prove hemolytic anemia?

Laboratory diagnosis of hemolytic anemia:

a) Evidence of red cell destruction:

Serum Indirect bilirubin and urine urobilinogen-increases

Peripheral smear:. burr cells, tear drop cells & fragmented cells – indicate intravascular hemolysis;

Spherocytes, sickle cells, malarial parasites-clues for specific cause for haemolysis.

Plasma haptoglobin is decreased in intravascular hemolysis; (Hb binds haptoglobin)

Plasma Hb level increases (>4 mgs/100ml)-Intravascular hemolysis;

Serum Lactic dehydrogenase increases;

b) Evidence of red cell generation:

Peripheral Smear: polychromasia and nucleated red cells. (Polychromasia indicates marrow is able to respond to
anemia)

Retic count: increases

 11. What are the drugs that cause jaundice?
Damage to the liver by the drugs can be dose related or idiosyncratic;

Dose related: paracetamol, antituberculous drugs (INH, sodium valproate & pyrazinamide)

Dose unrelated (idiosyncratic): anticonvulsants: (phenytoin, carbamazepine);

12. How will you manage the patient with hepatitis A infection?
Normal diet (previously low fat, low protein and high carbohydrate diet was prescribed which is not followed nowadays)

Avoid hepato-toxic drugs

Watch for signs of liver cell failure / monitor the serum Bilirubin levels

If the serum bilirubin levels are high >10 mgs% or if there are signs of liver cell failure, then give Vit K 3 injections on
alternate days, oral neomycin or Ampicillin (to keep the gut sterile), low protein diet (to limit the nitrogen in the gut) &
oral lactulose (to make sure that the child is passing stools)

13. What are the hepatitis viruses?

Hepatitis A, B,C, D, E …

A & E spread by feco oral route; others spread by blood and blood products and body secretions.

Fulminant hepatic failure is possible in Hepatitis C & D especially when it is associated hepatitis B infection (50%); it is
rare in Hepatitis B infection (1%); it is very rare in hepatitis A; it is common in hepatitis E, if the person is pregnant (20%)

Chronic hepatitis do not occur in Hepatitis A & E.

10% chance in hepatitis B; more chances if associated hepatitis C & D infections are present.
 11. CLUBBING

1. Define clubbing?

Selective bulbous enlargement of the distal portion of the nail bed due to proliferation of fibro vascular tissue.

Normally, the vertical height at distal IPJ > vertical height at the base of nail; in clubbing, it is reversed.

2. What is the easy way to demonstrate clubbing?

Shamroth sign; ask the patient to keep the dorsal aspect of the corresponding fingers of both hands close to each other;
normally, diamond shaped gap is seen; this is lost in clubbing.

3. What are the grades of clubbing?

Grade I: Softening of nail bed (Fluctuation of nail bed)

Grade II: Obliteration of angle of nail of bed

Grade III: Parrot beak or drum stick appearance

Grade IV: Hypertrophic osteoarthropathy

4. What is the minimum interval between the onset of the disease and clubbing?

2 weeks; usually occurs following lung abscess or empyema.

5. In which finger clubbing first starts?

Index finger; the reasons are not known.

6. What is lovibond angle?

Angle between nail plate and the proximal nail fold; normal angle is 160 degrees; it is obliterated in clubbing.

7. What are the theories of pathogenesis of clubbing?

Altered Prostaglandin metabolism

Reduced Ferritin theory

8. What are the causes for clubbing?

CVS: cyanotic congenital heart disease, infective endocarditis

RS: Bronchiectasis, lung absecess

Abd: cirrhosis, ulcerative colitis, crohn’s disease, auto immune hepatitis

Endocrinal causes: myxedema

Miscellaneous causes: familial. Idiopathic;

9. What are the causes for clubbing and cyanosis?

Cyanotic congenital heart disease, chronic obstructive pulmonary disease

10. What are the causes for clubbing and jaundice?

Cirrhosis

11. What is pseudoclubbing?

In hyperparathyroidism, excessive bone resorption occurs, giving an appearance like clubbing; this is pseudoclubbing

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12. LYMPHADENOPATHY

1. Above what size, usually lymphnode enlarment is significant?

Above 2 cm

2. What are the different groups of lymphnodes present in the neck?

Superficial: They are present superficial to the investing layer of deep cervical fascia; they are small and probably
insignificant.

Deep: They are again divided in to vertical group and horizontal group on either side of neck.

Vertical group: jugulo digastric, jugulo omohyoid, supraclavicular (from above downwards)

Horizontal group: submental, sub mandibular, pre auricular, post auricular, and occipital

3. By examining the LN, what are the inferences you can make?

a. warm, tender LN: could be due to infection

b. soft, fluctuant LN: could be due to suppuration
c. discrete, hard LN: could be due to malignancy
d. group of LN which are matted (due to periadenitis) and non-tender: due to TB
Localized enlargement: due to infection in the drainage area

Generalized enlargement: >1 anatomic area (Cervical & Axillary, Cervical & Inguinal)

4. What are the common causes for generalized lymphadenopathy?

Disseminated TB

Infections like HIV, Infectious mono nucleosis

Leukemias and lymphomas

5. How to diagnose Tuberculosis infection in a suspected TB lymphnadenopathy?

a. Examination: matted, non-tender LN

b. Symptoms: growth failure, malnutrition, PUO, prolonged cough, pneumonia not responding to conventional
antibiotics, recurrent RTI, unsatisfactory recovery from measles & whooping cough.

c. Mx test:5 units(0.1 ml) of PPD-read induration ;>10mm and above: positive

d. FNAC of the LN

d.Radiology: X- ray chest: look for the presence of Primary complex (node & focus) or Progressive primary complex
(consolidation, pleural effusion)

e.Demonstration of bacilli : sputum, gastric lavage, CSF, pleural tap, ascitic fluid

AFB smear or culture (Lowenstein & Jensen egg media-takes 6-12 weeks to get report)

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13. MACROCEPHALY

1. What is the definition of macrocephaly?

 Head circumference more than 2 S.D., above the mean for the age and sex

2. What are the common causes for macrocephaly?

a) Big skull—Chronic anaemia, Rickets, Osteogenisis Imperfecta

b) Big brain- Megalencephaly, cerebral gigantism, neurofibromatosis

c) Abnormal accumulation of substances in brain- MPS, Tay Sachs, Leukodystrophies

d) Accumulation in abnormal spaces-Subdural effusion

e) Hydrocephalus

f) Familial (commonest)

The most common cause for big head is familial; so, always look at the parents heads

HYDROCEPHALUS:--

3. Where the CSF is formed?

CSF : Formation- Choroid plexus of the ventricular system (mainly) & cap.endothelium

24 ml / hour in adults; 24ml/day in neonates.

Absorption- Arachnoid villi (mainly) & lymphatic channels, nerve sheaths.

4. What are the causes for hydrocephalus?

Hydrocephalus may be due to:

a. Increased production – Ex: brain tumours – rare.

b. Decreased absorption-(communicating)-damage of arachnoid villi.

Ex: Infn (TORCH,Meningitis), Bleeding, Leukemia

c.Obstruction in CSF pathways-(Obstructive) (Non-communicating)

Ex: Aqueductal gliosis due to Infection (Most common)

Arnold-Chiari malformation (displacement of cerebellum, pons, medulla in to foramen magnum)

Dandy-Walker (ageneis of part of the cerebellum and cystic expansion of IV ventricle-obstruction of foramen of
Magenda & Luschka).

Most common cause of Hydrocephalus is: congenital malformation

Most common cause of obstructive hydrocephalus is aqueductal stenosis (narrowest part of CSF pathway)

5. What are the clinical features of hydrocephalus?

Infants: big skull, widely separated sutures, prominent forehead, sunset eyes (pressure on the midbrain gaze centre by
the enlarged 3rd ventricle), Long tract signs in LL (stretching of the motor cortical fibers from lower limb area)

Older child: (after closure of sutures): Signs of ICT: headache, vomiting, personality changes, poor school performance,
irritability, elevated BP & decreased pulse (Cushing reflex), blurring of vision while stooping and bending, 6 th Cranial
nerve palsy ( often unilateral), Papilloedema} & Macewan’s sign.

6. What are the earliest changes observed in the X ray skull of a patient with hydrocephalus?

Earliest change seen in X-ray skull is sutural separation;

Silver beaten appearance and posterior clinoid erosion are observed in long standing cases.

14. SHORT STATURE

1. What is the definition of short stature?

Height 2 S.D., or 3rd centile below the mean for age and sex.

2. After 2 years of age, how much is the normal increase in height per year?

2 inches or 5 cm per year

3. Using the MPH (mid parental height), how to guess the possible adult height of a particular child?

MPH +/- 13.5 cms or 6 cms

4. What is constitutional short stature?

At birth: length is normal

By 1 year: growth starts lagging

Childhood: less than expected height

Puberty: is delayed

Final height: is normal

Bone age is delayed

Similar history in parents

5. What is familial short stature?

At birth: length is less

By 1 year: length is less

Childhood: length is less

Puberty: normal time

Final Ht: is also less; (coincides with MPH)

Bone age is normal

Parents are also small

6. How bone age is helpful in short stature? (CODED is the mnemonic)

Delayed bone age is seen in:

Constitutional

Organic diseases (CVS, RS, ABD)

Decreased food – malnutrition

Endocrine (hypothyroid, hypopituitarism, cushing syndrome)

Decreased emotional food - psychological

Bone age assessment: left wrist & hand

Expected epiphyseal centres = Age + 1

7. What are the hormonal causes for short stature?

Hypothyroidism: typical facies, constipation, mask like face, obesity

Cushing syndrome: moon face, buffalo hump, pink striae, obesity

Hypopituitarism: doll like facies, midline defects (micropenis, cleft lip, cleft palate)

Precocious puberty: pubertal changes

8. What are the intrauterine causes for short stature?

Infections (TORCH): IUGR, HSM, microcephaly.

Chromosomal : Down; Turner (webbed neck, widely placed nipples, shield chest, cardiac defects)

Genetic syndromes: Russel (triangular face, frontal bossing, clinodactyly)

9. What are proportionate and disproportionate short statures?

Proportionate SS is defined as short stature with a normal US:LS ratio; it can be due to prenatal causes (TORCH
infections, Genetic syndromes) or postnatal causes(malnutrition, psychosocial, organic diseases)

Disproportionate SS:can be symmetrical or asymmetrical (no symmetry between two halves of the body)

a) Asymmetrical, dispropotionate SS: Osteogenesis imperfecta, Chondroplasia punctata.

b) Symmetrical, disproportionate SS:

A) Short limb dwarfism:

i) Rhizomelic: Ex: achondroplasia, pseudochondroplasia, metaphseal Dystosis

ii) Mesomelic: Ex: thanatotropic, camptomelic

iii) Acromelic: Ex: asphyxiating thoracic dystrophy, Ellis-van Crevald syndrome

B) Short trunk dwarfism:

Mild micromelia: MPS, mucolipidoses

Mod micromelia: Kneist syndrome

 Severe micromelia: metatropic dwarfism

11. What history you will elicit in a case of Short stature?

What was the birth length of the baby at birth? (In intrauterine causes, this will be less)

Ask for growth chart – (by looking at it, constitutional / familial SS can be guessed)

Symptoms of organic / endocrine disease

Death-mother / younger sib delivery (the affected baby will have emotional disturbances)

Nutritional history: under nutrition

Family H/s/o Constitutional delay

12. What are the Anthropometric measurements you will take in a case of SS?

US: LS ratio: disproportionate SS: Skeletal dysplasias, rickets

Infantile body proportions- delay in bone growth: hypothyroidism

Weight: (malnutrition)

MPH (less in familial SS)

13. What are the points you will note in clinical examination of a child with SS?

Examine the child for

a) Intrauterine infection

b) Endocrine problems

c) Organic disease

d) Genetic syndromes
Could it be familial short stature? – observe the parents

14. What are the investigations you will do in a case of SS?

X Rays (Assessment of bone age, Rickets, Syndromes with bone dysplasias)

Endocrine: Thyroid: T3, T4 & TSH

GH: <10ng/ml after clonidine

Cushing: cortisol after stimulation

15. CYANOSIS

1. Define cyanosis?

Bluish discolouration of the skin and mucous membranes resulting from an increased quantity of reduced hemoglobin
or of hemoglobin derivatives (>4 gms%), in the small blood vessls of those areas.

2. Can cyanosis develop in severe anemia?

It is the absolute rather than the relative quantity of reduced hemoglobin that is important in producing cyanosis; In,
anemia, the total amount of hemoglobin itself may be about 4 gms% and hence in severe anemia cyanosis may not be
possible;

3. What are the two types of cyanosis?

Peripheral cyanosis: it is due to slowing of blood flow and abnormally great extraction of oxygen from normally
saturated arterial blood. It results from vasoconstriction and diminished peripheral blood flow, such as occurs in cold
exposure, shock, congestive failure and peripheral vascular disease. In peripheral cyanosis, mucous membranes of the
oral cavity are spared.
Central cyanosis: It can be due to:

Cardiac disease: cyanotic congenital heart disease (Right to left shunt)

Lung diseases:

Decreased atmospheric pressure (high altitude)

Abnormal Hb types: methemoglobinemia, sulfmethemoglobinemia

4. How to differentiate clinically, peripheral cyanosis from central cyanosis?

Peripheral cyanosis Central cyanosis

1. Seen only in peripheries Seen in peripheries and also in mucous membranes

2. No clubbing Usually clubbing+

3. Peripheries are usually cold Peripheries are warm

4. If warmth is given, cyanosis decreases No response

5. If oxygen is given, no response If oxygen is given, cyanosis will probably decrease.

5. How to differentiate the central cyanosis due to lung disease from that of a cardiac disease?

Clinically, severe respiratory distress, altered breath sounds, presence of added sounds and abnormal lung in chest x
ray favour respiratory cause; abnormal heart rates, abnormal heart sounds, presence of murmurs and cardiomegaly in
chest x ray favour cardiac cause;

Cyanosis may decrease with oxygen therapy, in lung disease, but not in heart disease.

ABG done 15 minutes after giving 100% O2 will also be helpful; in cardiac disease involving Right to left shunt, the Partial
pressure of oxygen will not go beyond 100 mm, where as in lung problems, it can be more than this value.
6. A new born has cyanosis and CCF; what are the causes?

Transposition of great vessels, truncus arteriosus, total anomalous pulmonary venous drainage.

7. What is the most common cause of cyanotic heart disease in children?

TOF

8. When does the cyanosis appear in TOF children?

Usually by around 2 to 3 months; the reasons are:

a. the pulmonary out flow obstruction increases after birth, over the first 2-3 months of life
b. the presence of foetal Hb, which has got a good carrying oxygen capacity
c. as the child grows, the physical activity increases, hence, the oxygen requirement also increases
d. late closure of ductus (as a compensation)

9. How does a child with TOF present to us?

Mostly with cyanotic spell at the age of 3-6 months; it is defined as “exaggeration of existing cyanosis with or without
loss of consciousness”.

10. How will you manage a cyanotic spell? (mnemonic: KOMSIP)

-Knee-chest position (constricts major vessels of the lower limbs; venous compression resulting in decrease of
deoxygenated blood entering in to the heart; arterial compression results in increase in peripheral vascular resistance
and hence increased blood entry in to pulmonary system)

-Oxygen

-Morphine IV (0.1 to 0.2 mg/kg stat) (decreases the anxiety and hence decrease in heart rate and cardiac work load;
releases the infundibular spasm)

-IV fluids
-Sodium bicarbonate

-To prevent the child from getting further convulsions: give Propanolol daily

11. How will you manage a case of TOF?

Medical management:

Prevention of spells: by giving propanolol

Prevention of thrombosis: keep PCV between 55 to 60%; manage any dehydration promptly.

Prevention of Infective Endocarditis: infective endocarditis prophylaxis

Attend to the source of infection like dental caries

Surgical management:

Palliative: Best surgery is Blalock-Taussig shunt: connection between pulmonary artery and subclavian artery;

Corrective: total correction

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