Pediatrics review

Danil hammoudi.MD

Sinoe Medical Association

 

 

 

Enzyme deficient	Disease	Description
Glucose-6-phosphatase	von Gierke's disease  (Type I)	No effect of glucagon or epinephrine on glycemia. Hepatomegaly, hypoglycemia and gout
Acid maltase; -1,6-glucosidase	Pompe's disease (Type II)	Lysosomal, death in infancy
Debranching enzyme, (Amylo-1,6-glucosidase in muscle and liver)	Cori's disease (Type III)	Milder than v. Gierke
Branching enzyme (muscle, liver)	Anderson's disease (Type IV)	Death before age 2, accumulation of glycogen with long outer chains.
Muscle phosphorylase (glycogen)	McArdle's disease (Type V)	Cramps, no lactate after exertion
Glycogen phosphorylase in liver	Hers' disease (Type VI)	Hypoglycemia less severe than v. Gierke
Fructokinase	Essential fructosuria	Absolutely benign, urinary excretion of fructose
Fructose-1-phosphate aldolase  (aldolase B)	Fructose intolerance	Hypophosphatemia, hypoglycemia
Galactose-1-P uridyl transferase  (same as hexose-1-phosphate uridyl transferase)	Severe form of GALACTOSEMIA	Mental retardation; liver damage
Galactokinase	Mild galactosemia	Cataracts
Glucose-6-phosphate dehydrogenase	Glucose-6-phosphate dehydrogenase  deficiency	Sensitivity to primaquine, aspirin, sulphonamides and other drugs Hemolysis but advantage of resistance to malaria
Pyruvate kinase	Hemolysis	Decreased Glycolysis in RBC, low ATP in RBC. accumulation of 2,3-P-glycerate
alpha-L-Iduronidase	Huler's disease (MPS IH)	Inability to degrade heparan sulfate and dermatan sulfate. Facial deformities, mental retardation corneal opacity.
Iduronate sulfatase	Hunter's disease (MSP II)	Inability to remove sulfates from iduronate. Desvastating but a bit less than Hurler's. No corneal clouding. Heparan sulfate and dermatan sulfate in urine
Defective heparan sulfatase  (sulfatase of the involved monosaccharides)	Sanfillipo (MSP III)	Severe mental retardation

Assorted enzymes and corresponding diseases

 

Enzyme deficient	Disease	Description
Orotate phosphoribosyl transferase	Orotic aciduria	Megaloblastic anemia; treatment: oral uridine (feedback inhibition of carbamylphosphate synthase II).
Glutathione reductase	Gout	Over reactive enzyme forces PRPP synthesis which favors purine synthesis followed by break down to uric acid.
Glutamine-PRPP amidotransferase resistant to feedback inhibition by nucleotides.	Gout	As above.
Adenosine deaminase	Severe combined immunodeficiency disease (SCID).	Genetically determined "AIDS" due to excess of dATP and lymphocytes growth failure.
HGPRT  Hypoxanthine-guanine phosphoribosyl transferase	Lesch-Nyhan including gout	Self mutilation, mental retardation,  gout.
Mild deficiency of HGPRT	Gout	Failure to recycle hypoxanthine to inosinic acid. No mental retardation
Bilirubin-UDP-glucuronosyl transferase	Crigler-Najjar syndrome I and II	Type I death in week after birth; type II less severe. (Gilbert syndrome is an asymptomatic hyperbilirubinemia

APGAR SCORE

Injuries and age:

Asphyxia and chocking:

·         1year

 

drowning in swimming pools+accident poisoning

·         2 years

 

pedestrian injury

·         6 years

 

babywalkers injury

·         6months

Intramuscular whole killed bacilli:

·         Meascles

·         Rubella

 

Intramuscular mutant toxin:

·         Diphteria

·         Tetanus

 

Intramuscular polysaccharide with protein adjuvant:

·         Hemophilus influenzae type b1

 

Measles appears as distinct clinical stages.     Koplik spots in a child with measles  Extensive measles     Incubation period Ranges from 7-14 days (average 10-11 days). Patient usually have no symptoms. Some may experience symptoms of primary viral spread (fever, spotty rash and respiratory symptoms due to virus in the blood stream) within 2-3 days of exposure. Prodrome Generally occurs around 10-12 days from exposure. Appears as fever, malaise and loss of appetite, followed by conjunctivitis (red eyes), cough and coryza (blocked or runny nose). 2-3 days into the prodrome phase, Koplik spots appear. These are blue-white spots on the inside of the mouth and occur 24-48 hours before the exanthem (rash) stage. Symptoms usually last for 2-5 days but in some cases may persist for as long as 7-10 days. Exanthem (rash) Red spots ranging from 0.1-1.0cm in diameter appear on the 4th or 5th day following the start of symptoms. This non-itchy rash begins on face and behind the ears. Within 24-36 hours it spreads to the entire trunk and extremities (palms and soles rarely involved). The spots may all join together, especially in areas of the face. Rash usually coincides with the appearance of a high fever >/=40degC. Rash begins to fade 3-4 days after it first appears. To begin with it fades to a purplish hue and then to brown/coppery coloured lesions with fine scales. Recovery Cough may persist for 1-3 weeks. Measles-associated complications may be the cause of persisting fever beyond the 3rd day of the rash

 

pearls

·         Examination of this lesion demonstrates eosinophils: erythema toxicum

·         Frequently found over the eyelids, glabella, and nape of neck, this lesion fade over the first week of life: salmon patch

 

Erythema toxicum neonatorum, transient neonatal pustular melanosis, sucking blister, miliaria, and mongolian spots are among the many benign skin conditions that can occur in newborns

Milia are tiny white bumps, usually on the nose, cheeks or chin; they are blocked-off skin pores. They usually disappear by 1-2 months of age. No treatment is needed.   
Milia

 Milia

 

MONGOLIAN SPOTS

  

These are flat, bluish gray birthmarks. They are very common in dark-skinned babies (American Indian, Hispanic, Oriental, and African American). They are often on the back and buttocks, but may be anywhere. Size and shape are variable, and most fade by 2 or 3 years of age. They are harmless.

STORK BITES (Pink Birthmarks)

These flat, pink marks usually occur on the bridge of the nose, the back of the neck, or on the eyelids. Most clear by 2 years of age, but about _ of the ones on the nape of the neck do not disappear.   Stork bites (Nevus simplex)

ACNE OF NEWBORN

Over 30% of newborn babies develop facial acne; it's usually mostly small red bumps. It usually begins at about 3 or 4 weeks of age, and may last until about 4-6 months of age. Acne is probably related to transfer of hormones from the mother. No treatment is needed for this temporary acne.

DROOLING RASH

Rash on the cheeks or chin is often from contact with food and stomach acid that has been spit up. This rash comes and goes. Rinsing the face with water after feedings and spit-ups is helpful.

 

Erythema  toxicum Benign dermatoses in newborns must be distinguished from more serious disorders with cutaneous manifestations. Erythema toxicum neonatorum, transient neonatal pustular melanosis, sucking blister, miliaria and mongolian spots [see above and below for more info]are among the many benign skin conditions that can occur in newborns. Recognition of these dermatoses allows the physician to proceed appropriately, reassure the parents and initiate further evaluation or treatment as necessary. To avoid adverse sequelae, special attention must be given to more persistent conditions and those with the potential for complications or malignant transformation. Consultation with a pediatric dermatologist, a plastic surgeon or a neurosurgeon may be necessary.    Rash comes on 2nd or 3rd day of life; over 50% of babies get this rash. Red blotches (1/2 to 1 inch in size) appear with a small white center lump (look like insect bites). They can be anywhere on the body, keep occurring, and the cause is unknown. This rash is harmless, and usually goes away on its' own by 2-4 weeks of age.   Treatment The large red splotches typically disappear without any treatment or changes in skin care. Prognosis You can expect full clearing of the lesions within two weeks. Complications There are no complications.
	Factors to Consider in Evaluating Size in Newborns
	Small for gestational age (birth weight below 10th percentile) Symmetric Features: onset early in gestation; brain size corresponding with body size; glycogen and fat content corresponding with body size (hence, lower risk of hypoglycemia) Etiology: environmental factors such as smoking or drugs (heroin, methadone, ethanol, phenytoin [Dilantin]); genetic factors such as small maternal size or chromosomal disorder (trisomy 13, 18, and 21 syndromes, Turner's syndrome); intrauterine infections such as TORCH, bacterial (tuberculosis), or spirochetic (syphilis); metabolic disorders such as phenylketonuria Asymmetric Features: onset late in gestation; no effect or minimal effect on fetal brain growth; reduced glycogen and fat content relative to body size (hence, increased risk of hypoglycemia); increased risk of perinatal asphyxia and polycythemia (hyperviscosity) Etiology: uteroplacental insufficiency with chronic fetal hypoxia Large for gestational age (birth weight above 90th percentile) Features: increased incidence of perinatal asphyxia and birth injuries; respiratory distress syndrome; hypoglycemia Etiology: maternal diabetes (increased likelihood of large birth size, respiratory distress syndrome, and hypoglycemia)
	TORCH = toxoplasmosis, other viruses, rubella, cytomegaloviruses, herpes [simplex] viruses.

 

Congenital exophytic scalp nodules should always be evaluated further because 20 to 37 percent of these lesions connect to the underlying central nervous system

 

 

Just general not for the board or specific notes on pediatrics for general public

Chimaerism and Mosaicism

[...] The boy, who was otherwise healthy, is one of only a handful of known true human chimaeras - people carrying tissues that originated in two separate embryos. More common are mosaics, who have patches of tissue that differ genetically from the rest of their body, thanks to a mutation or chromosomal anomaly that arose early in embryological development. [...]

Chimaerism affecting a variety of tissues can also result from other events. In 1995, for instance, Bonthron described another boy who was partially parthenogenetic: cells from his blood and certain other tissues contained none of his father's chromosomes; instead, they featured a duplicated set of one half of his mother's. Although it is not unknown for an egg to start developing without being fertilized, fully parthenogenetic human embryos cannot develop to term. Bonthron believes that the partially parthenogenetic boy owed his unusual genetic constitution to an egg that spontaneously divided into two cells, one of which was fertilized. The second cell then copied its maternal chromosomes, allowing the resulting chimaera to form a viable

 

 

 

 

 

Lead poisoning can cause damage to the kidneys, nervous system, and brain. Children have suffered permanent brain damage or even death from it. Lead exposure is one of the most common preventable poisonings of childhood. It is estimated that one out of every six children in the United States, or a total of over three million children, have blood levels in the toxic range. Lead is a potent poison that can affect individuals at any age. Children with developing bodies are especially vulnerable because their rapidly developing nervous systems are particularly sensitive to the effects of lead.

Symptoms and Diagnosis

Children with lead poisoning usually do not look or act sick. 

 When exposed to small amounts of lead levels, children may appear inattentive, hyperactive and irritable.

Other symptoms of lead poisoning include

·        Tiredness ,

·        Sleeplessness ,

·        Stomachache ,

·        Vomiting .

·        Children with greater lead levels may also have problems with learning and reading, delayed growth and hearing loss

 At high levels, lead can cause permanent brain damage and even death.

For adults, some common symptoms of lead poisoning in adults are fatigue, depression, heart failure and high blood pressure.

Children ages 9 months through 5 years are at greatest risk for lead poisoning. For children, there should no more than 10 micrograms per deciliter (10 ug/dL) of blood lead concentration. If higher levels are found, there are certain steps that can be taken.

 

 

Treatment for Lead Poisoning

The treatment for childhood lead poisoning, known as chelation, historically often involved a painful hospital procedure of injections that causes lead to be excreted in the urine. Recently oral chelation drugs have been developed that can be taken without hospitalization. Chelation procedures do not reverse damage already done to the body and it is thought that lead deposited in the brain tissue is not removed by this procedure. Further treatment requires careful clinical and laboratory surveillance of the child to ensure that there is not continued exposure.

Just as important in treatment of lead poisoning is removal of the source of the lead. Keep your child away from the home until all traces of lead are removed. The paint chips and dust in the air and on the surface of floors, rugs and furnishings during removal are dangerous and can result in re-exposure and raise a child's blood lead level above the pre-chelation level.

 

 

How to Protect Your Children from Lead Poisoning Here Are Steps You Can Take to Protect Your Children from the Risks of Lead Poisoning in Your Home: Get Your Child Tested Have your children tested for lead poisoning every six months from the time they are six months old until they reach six years of age. It's a quick and simple blood test. Remember, even children who appear healthy may have high levels of lead in their system. Your doctor or local health clinic can tell you where to have your child tested. If Your Home Was Built Prior to 1978, Get Your Home Tested. Your Local or State Health Department Might Test Your Home for Lead Paint Have Your Landlord or Superintendent Keep All Painted Surfaces in Good Condition Keep Children Free from Ordinary Dust and Dirt That May Contain Lead Clean floors, windowsills and chewable surfaces such as cribs with a solution of powdered dishwater detergent and water twice each week. (You may want to wear gloves to avoid irritation while cleaning.) Keep areas where your children play as dust-free as possible. Wash toys, pacifiers and bottles that have been on the floor. Be sure your children wash their hands before eating or sleeping. Keep Infants and Toddlers Away From Potentially Dangerous Surfaces Windowsills, window frames, doorframes and baseboards in housing built before 1978 are often coated with lead paint. Tiny pieces of peeling or chipping lead paint are dangerous if ingested. Even if lead paint is in good condition, it can still be a problem where painted surfaces rub against each other and create dust. Do Not Remove Lead Paint by Yourself Never dry scrape or burn old paint off of areas in your home. This can release lead dust and tiny lead particles that can stay in the air, in the carpet and in your home for months. Hire a person with special training for correcting lead paint problems. All occupants must leave the building until work is complete and thoroughly cleaned up. Do Not Bring Lead Dust into Your Home If you work with lead in your job or hobby, change your clothes before you go home. A job in construction, demolition or painting, or with batteries could mean that you have lead on your hands or clothes. Soil near highways can be contaminated from years of exhaust from leaded gas and can be tracked into your home from shoes. Children playing in contaminated dirt are in danger, so keep your kids in sand or grassy areas when you have a choice. Test Your Water and Get the Lead Out Your local health department or water supplier can tell you how to test your water. Lead can come from household pipes made with lead. Boiling will not reduce the amount of lead. Bathing in lead-contaminated water is not dangerous - lead cannot enter the body through the skin. If you do not know if your water is lead free, do not use the water from the hot water tap for food preparation. Run cold water for 60 seconds before using it for drinking or cooking if the water hasn't been used for over 2 hours. You can buy a filter certified for lead removal. Call the EPA's Safe Drinking Water Hotline at 1-800-426-4791 for more information. Be Sure Your Children Get Plenty of Iron and Calcium Iron and calcium in the body mean that the body will absorb less lead. Serve eggs, lean red meat and beans for iron and dairy products for calcium. Protect Your Food from Lead Do Not Store Food or Liquid in Lead Crystal Glassware or Imported or Old Pottery Be Sure Any Printing on Plastic Bags Stays on the Outside, Away From Your Food

 

 

 

Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females.

 

 Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994].

 

 Affected females exhibit a similar, but usually less severe phenotype.

 

Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation.

 

It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment.

Approximately 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills.

 

Behavior problems and speech/language delay are common features of Fragile X Syndrome.

  

People with Fragile X syndrome also have a number of recognizable physical features, including:

·        a high arched palate,

·        strabismus (lazy eye),

·        large ears,

·        long face,

·        large testicles in males,

·         poor muscle tone,

·         flat feet,

·        and sometimes mild, heart valve abnormalities.

·        Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features.

·        Long face

·        Large ears\micropenis

·        Large testes

·        Prominent jaw

·        Macroorchidism

·        Hypotonia

·        Repetitive speech

·        Gaze avoidance

·        Hand flapping

 

·        Delay,autism

 

Many hospitFragile X syndrome is characterized by moderate mental retardation in affected males and mild mental retardation in affected females.

Diagnosis/testing.   The diagnosis of fragile X syndrome rests on the detection of an alteration in the FMR1 gene (chromosomal locus Xq27.3).

 More than 99% of affected individuals have a "full mutation" in the FMR1 gene caused by an increased number of CGG trinucleotide repeats (>230) typically accompanied by aberrant methylation of the FMR1 gene.

 

Both increased trinucleotide repeats and methylation changes in FMR1 can be detected by molecular genetic testing. Such testing is clinically available.

Genetic counseling.   All mothers of a child with an FMR1 gene full mutation (expansion >230 CGG trinucleotide repeats) are carriers of an FMR1 gene expansion.

They and their family members are at increased risk to have children with fragile X syndrome and should be offered molecular genetic testing and recurrence risk counseling based on the results.

This counseling is complex and should be provided by a knowledgeable genetics professional.

 Prenatal testing is possible through molecular genetic testing of DNA from cells obtained by chorionic villus sampling (CVS) or amniocentesis, but should only be undertaken after carrier status has been confirmed and the couple has been counseled regarding the risk of recurrence.

als and laboratories perform blood tests to diagnose Fragile X syndrome. Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement.

Also, families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder.

 

 

The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals.

 The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories.

 Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF).

 

 

PEDIATRIC DERMATOLOGY

 

I.              CLASSIC EXANTHEMS

A.  First Disease (MEASLES, Rubeola)

1.       Etiology: myxovirus

2.       Clinical: age of onset after 6-12 months, 10-11 days' incubation, then fever, coryza, rash

3.       Enanthem: Koplik's spots - 1-2 days prior to onset of rash

4.       Exanthem: morbilliform

a        eruption 14 days after inoculation

b        Posterior scalp-- neck-- face-- trunk, upper extremities

c         2-3 days' duration

5.       Sequelae: neurologic in up to 50%

6.       Prevention:

a        live attenuated vaccine (MMR) after 12 months

b        earlier killed vaccines led to atypical measles

B.  Second Disease (SCARLET FEVER)

1.       Etiology: erythrotoxin from Group A Beta-hemolytic Strep, usually from pharygeal infection ("Strep" Throat)

2.       Clinical: Sudden, severe after 2-4 days' incubation with fever, sore throat, headache

3.       Exanthem:

a        oropharyngeal erythema

b        "Strawberry" tongue

4.       Sequelae:

a        rheumatic fever 2-3 weeks post infection

b         glomerulonephritis

5.       Treatment: Penicillin

C.  Third Disease (RUBELLA, German Measles)

1.       Etiology: paramyxovirus

2.       Clinical:

a        12-25 days' incubation

b        4-5 day prodrome (fever, malaise) with adenopathy (post cervical)

3.       Exanthem:

a        2-3 day course

b        small pink papules on face with peripheral spread to trunk and arms over 1 day

c         clearing in upper extremity, with involvement of lower extremity

4.       Enanthem:

a        Forchheimer's spots - petechiae on soft palate

b        coincident with exanthem

5.       Sequelae:

a        Usually none

b        Neonatal Rubella Syndrome

6.       Prevention: live attenuated virus (MMR)

D.  Fourth Disease (Duke's Disease)

1.       Historical significance only

2.       ? ECHO virus exanthem

3.       ? Scarlatiniform eruption

E.  Fifth Disease (Erythema Infectiosum)

1.       Etiology: Human Parvovirus

2.       Clinical:

a        children 5-15 years

b        mild constitutional symptoms

c         1-2 week duration, waxing and waning

3.       Exanthem:

a        "slapped" cheek appearance

b        reticulated erythema over upper back, shoulders, buttocks

4.       Enanthem: none

5.       Sequelae: none, but adults may have lingering malaise, arthragias, fever

F.  Sixth Disease (Exanthem Subitum, Roseola)

1.       Etiology: Herpes Virus VI

2.       Clinical:

a        young children (6 months to 2 years)

b        10-12 days' incubation

c         High fever spike, 2-3 days' duration

3.       Exanthem:

a        abruptly follows defervescence

b        short lived (1 day's duration)

c         faint pink macules from neck to trunk

d        facial sparing

4.       Enanthem: none

5.       Sequelae: febrile seizures, (non specific)

6.       Prevention: none

 

 

II.         VARICELLA (CHICKEN POX)

 

 

A.  Etiology: Varicella Zoster Virus

B.  Clinical:

1.       10-20 days' incubation

2.       1 day prodrome of fever, malaise

C.  Exanthem:

1.       successive crops

2.       congested papules becoming vesicular ("dew drop on a rose petal"), then crusted

3.       central distribution (face, scalp, trunk) palms, soles spared

4.       1 week's duration (maybe up to 3 weeks)

D.  Enanthem: flaccid vesicles progress to white ulceration on hard palate, tonsillar pillars

E.  Sequelae:

1.       uncommon in immunocompetent

2.       Zoster (Shingles)

F.  Treatment: Acyclovir, Valcyclovir, Famcyclovir

G.  Prevention: Vaccine

 

 

III.    KAWASAKI'S DISEASE (mucocutaneous lymph node syndrome)

   

A.  Etiology: uncertain

B.  Clinical: infants, young children

C.  Criteria:

1.       5 or more days of fever

2.       conjunctivitis

3.       Strawberry tongue, oropharyngeal erythema

4.       erythema and subsequent peeling of hands, feet

5.       scarlatiniform rash

6.       acute cervical adenopathy

7.       elevated platelets

D.  Sequelae: coronary arteritis, aneurysms

 

E.  Treatment:

1.        Antibiotics

2.        Steroids

Age prevelence: Peak incidence occurs during age 12-24 months, 80% of cases are in children under 5 years of age. Sex prevelence: 1.5:1 male:female Criteria: Fever of 5 days duration plus 4 of the following: Rash Conjunctivitis Inflammation of mucus membranes (tounge, lips) Edema and erythema of the hands and feet Cervical Adenopathy Associated findings: Hydrops (enlargment) of the gall bladder Thrombocytosis Diagnostic Evaluation: Complete blood count White cell differential Platlet count Sedimentation rate ASO titer Pharyngeal Strep screen Chest Radiograph Electrocardiogram Echocardiogram Pathophysiology: The vasculitis is most severe in medium-sized arteries but can also occur in veins, capillaries, small arterioles, and larger arteries. In severely affected vessels, the media develops inflammation with necrosis of smooth muscle cells. Splitting of the internal and external elastic laminae can occur, which leads to aneurysms. Four to 8 weeks after the onset of symptoms, inflammatory changes are less apparent and fibrous connective tissue begins to form within the vessel wall. The intima proliferates and thickens. The vessel wall eventually becomes narrowed or occluded by stenosis or a thrombus. Cardiovascular death usually occurs from a myocardial infarction secondary to thrombosis of a coronary aneurysm or from rupture of a large coronary aneurysm. The vasculitis also affects other medium-sized vessels, including the renal, paraovarian, paratesticular, mesenteric, pancreatic, iliac, hepatic, splenic, and axillary arteries, resulting in systemic aneurysms.     Differential Diagnosis: Group A streptococcal infections (scarlet fever) Staphyloccal infection with toxin release Measles Drug reactions Rocky Mountain spotted fever Leptospirosis Ebstein-Barr virus infection Juvenial rheumatoid arthritis Unusal variants of acute rheumatic fever Diagnostic Evaluation: History Physical Exam Lab: Complete blood count with differential Platelet count Sedimentation rate Chemistry Profile ASO titer Urinalysis Pharyngeal Strep screen Chest Radiograph Electrocardiogram Echocardiogram Treatment: Hospitalization is indicated for diagnostic evaluation, Gamma Globulin therapy and support of unstable clinical condition if needed. Intravenous Gamma Globulin, 2 grams per kilogram of body weight given as a continous infusion over 10 hours. Aspirin, 80 mg/kg/day divided and given every 6 hours for a total of 2-3 weeks. Asprin levels and hepatic enzymes will need to be checked after about one week during this initial period. After 2-3 weeks (at the time of the first followup echocardiogram) a reevaluation is done (exam, echo, ESR,CBC). If signs of inflammation have gone (platelet count less than 500k, normal ESR, normal exam) and there is no coronary involvement , then the asprin dose will be reduced to 3-5 mg/kg/day (anti-platelet aggregation dose) given as a once a day dose. If there is still evidence for inflammation, then continued high dose asprin. Eventually, when there are no signs of inflammation then the antiinflammatory therapy will be changed to anti-platelet therapy. Follow-up: Follow-up at one week for asprin and hepatic enzyme levels. Follow-up in 2-3 weeks and 8-10 weeks after the onset of the illness for clinical evaluation, ESR and CBC with platelet count. Length and type of antiinflammatory therapy will be determined at these visits. Anti-platelet aggregation medication will genera ly be reccommended for at least one year (until the one year echo is done). Follow-up with Pediatric Cardiology at 2-3 weeks, 8-10 weeks and one year after the onset of the illness. Follow up will include an exam, an ECG and an echocardiogram at each visit. At age 8 to 10 years of age (not necessarly that many years from illness) patients who are thought not to have had overt coronary involvement will be called back for a exercise stress test to look for physiologic changes in coronary function. For those patients with coronary artery disease long term anti-platlet medication is needed. Also, depending on the degree of disease long term follow-up with angiograms and treatment with coumadin or heparin may be needed. Asprin may need to be discontinued if varicella or influenza is suspected, (for high risk patients consider the use of dipyrimadole during this interval).

 

IV.         COMMON CHILDHOOD PROBLEMS - (treatment considerations)

A.  Atopic Dermatitis

B.  Warts

C.  Molluscum Contagiosum

D.  Poison Ivy

E.  Ringworm

F.  Drug eruptions

G.  Viral Exanthems

H.  Acne

I.  Impetigo

NEONATAL DERMATOLOGY

 

I.              "TORCH" SYNDROME - "blueberry muffin baby"[ Jaundice and purpura, especially of the face in the newborn, which may result from intrauterine viral infection.]

A.  Toxoplasmosis

B.  Other

C.  Rubella

D.  Cytomegalovirus

E.  Herpes Simplex

II.         COMMON NEONATAL ERUPTIONS

A.  Erythema Toxicum [Neonatorum]  

B.  Neonatal Acne  

C.  Milia

 

CARE OF NEWBORN

Introduction

The end of your journey has come after 40 weeks. The fruit of your labour (literally) will soon be in your hands.

There are a few things you might want to know about your new arrival. Typically, a newborn baby has the following characteristic appearance:

·         Weight: Average 2.8 kg for Indian babies (range 2.5 – 3.2 kg). Babies below 2.5 kg at birth are considered to be low birth weight and need special evaluation.

·         Length:  Approximately 50 cm. Remember, small women have small babies and many genetic factors also play a role in determining the length of the baby.

·         Head: Your baby’s head appears large for the body and may have an elongated shape or appear to have some ‘bumps’. This is due to changes called molding, which occurs in labour and delivery. Small bumps called ‘caput’ usually disappear in 1 – 2 days. Soon the head gets rounder. The head circumference is 33 – 35 cm.

·         Soft spots or Fontanelles:  There are 2 areas on the head where bone formation is incomplete at birth. The larger one, in front of the head closes by 6 – 18 months. The smaller one at the back usually closes by 6 weeks.

·         Hair: As all people vary, so does their hair. Your baby may have lots of hair or none at all! It depends on familial and racial factors.

·         Heart beats: Usually the heart rate is 120 – 140 beats per minute.

·         Respiratory rate (breathing): It is faster than adults, usually 30 – 40 breaths / minute. Breathing may be noisy or stop for many seconds. This is not uncommon.

• Colour: Depending on the parents, the skin colour of newborn varies. In general, newborn babies look flushed and pink all over. However, the palms and soles of the feet may look dusky or little bluish soon after birth.

Immediate Care

There are certain standard procedures followed by a health personnel in the delivery room. These are described below:

• Suction of airway

At delivery of the head (even before the shoulders and body deliver), the mouth is gently suctioned by a rubber or plastic device. This cleans the airway and is especially necessary in cases where the liquor was meconium stained.

After the baby is born completely, the birth attendant supports the baby’s head and body, keeping them at the same level as your perineum, while the cord is clamped and cut.

• Umbilical cord

It was the lifeline joining the baby to you until birth. This now has to be cut. There are different views on when and who should cut the cord. Usually, the cord is cut once the pulsation stops to allow maximum blood from the placenta to reach the baby. In certain medical conditions however, your doctor may f
eel it is necessary to cut the cord earlier or later.The cord is clamped and cut by the doctor or nurse. If you wish your birthing partner (spouse) can cut the cord.

• Temperature Maintenance

Your baby has come from your nice warm womb into the cold world outside. A very important adaptation is maintenance of body temperature. Your doctor will gently dry the baby, especially the head, and wrap her / him in a warm dry towel. The baby is now kept under a warmer light to maintain temperature. A small or pre- term baby may require a special machine or incubator for this.

• Apgar score

Initially, more importance was given to the mother, as labour was often hazardous. It was an anaesthetist, Virginia Apgar, who described the "Apgar score" which is used in most hospitals to describe the condition of the baby at birth. Assessment by this score at 1 minute from birth indicates the need for neonatal resuscitation by identifying a baby who is sick.
Repeat scores at 5 – 10 minutes indicate how well the baby is maintaining herself / himself

 

The maximum score is 10. A baby born in good condition score 9.

• Care of Eyes

A newborn’s eyes are reflex tightly closed and often smeared with blood, amniotic fluid and vernix. Hence they are usually wiped gently with sterile saline swabs. In some hospitals, to prevent neonatal conjunctivitis, your doctor may recommend using medicated eyedrops (1% silver nitrate) or eye ointment (such as erythromycin).

• Vitamin K

In most centres, a single intramuscular injection of vitamin K 0.1 mg is given to the baby. This helps the baby’s blood clotting system and prevents bleeding.

• Initiation of Breastfeeding

It is recommended to start breastfeeding as soon as possible. In fact, some believe in putting your baby to your breast as soon as the cord in clamped and cut. Allowing the baby to suckle immediately stimulates release of oxytocin, a hormone which helps your placenta to separate.
 

Care on 1st Day

Other than the immediate care discussed above there are a few more important issues on the first day of your baby’s life.

• Measuring and recording weight, length and head circumference.
• Taking baby’s footprints for hospital records (usually).
• Examine the body orifices (openings) to detect potentially risky conditions like imperforate anus, tracheo-oesophageal fistula.
• Assessing the gestational age and maturity of the baby to confirm adequate development of various reflexes and body systems. This is most important in babies born early or late.

Prevention Of Infection Newborns are very vulnerable to infection. Careful hand washing by those handling the baby including yourself is important. Preferably avoid over exposing the baby to too may visitors. Visitors are inevitable – it is easier to keep the baby in the nursery during visiting hours. So that you don’t have to tell people to be careful!

 

Screening Tests as indicated Usually, your doctor or nurse collects blood from the umbilical cord after the cord is cut at delivery.   These samples are sent for baby’s blood group and hemoglobin in all cases.    In select cases, additional tests such as Coomb’s test and cord bilirubin are done if you are Rh-negative.   Tests for infections (VDRL, HIV) or for blood disorders (G-6PD deficiency) are sometimes asked for. In selected cases, a spot test using blood collected by pricking the heel of the baby may be done for TSH (to detect hypothyroidism) or Guthrie test (for phenylalanine to detect phenylketonuria) or others may be required where a particular disease is suspected.

 

Continuation of Breastfeeding: Remember that mother’s milk is the best for a baby. Even if you are tired, or your breasts and nipples feel sore, or you feel there is very little milk coming out, DON’T give up. The first day is the toughest. Persist in giving the baby only breast milk. Resist from giving any other feeds. Your baby will soon settle down to a proper routine!

 

Father’s Role: Let the Dad also spend time holding the baby and being with you both. This helps in bonding.