Pediatric Facts from Previous Papers

·         IMP DZ WITH HYPERTONIA:

Edward’s, 21q-, Krabbe’s, Kernicterus(Acute), Menke Kinky Hair Syndrome, SSPE,

·         Clinical pointers towards specific IEM’s

·         Coarse facies: Lysosomal disorders

·         Cataract: Galactosemia, Zellweger syndrome

·         Retinitis pigmentosa: Mitochondrial disorders

·         Cherry red spot: Lipidosis

·         Hepatomegaly: Storage disorders, urea cycle defects

·         Renal enlargement: Zellweger syndrome

·         Eczema/alopecia: Biotinidase deficiency

·         Abnormal kinky hair: Menke disease

·         Decreased pigmentation: Phenylketonuria

·         Hiccups: Nonketotic hyperglycinemia

·         Ophthalmoplegias: MSUD, Nonketotic hyperglycinemia

·         Apnea monitors based on chest wall movement are likely to miss obstructive apnea. Monitors with facilities for measuring heart rate and oxygen saturation would be more useful in the monitoring of significant apnea in preterm infants.

·         Methylxanthines have been the mainstay of pharmacologic treatment of AOP. The loading dose of intravenous aminophylline is 5 to 6 mg/kg, followed by 1.5 to 3 mg/kg every 8 to 12 hours. Caffeine available for both oral and intravenous use has some advantages over theophylline. Because it has a higher therapeutic index, toxicity is less of a concern. Also, once-daily dosing is possible due to its longer halflife. A typical loading dose of 20 mg/kg caffeine citrate is followed in 24 hours by 5 to 8 mg/kg per dose, administered once every 24 hours. Recommended therapeutic levels are 5 to 10 μg/ml for  minophylline and 8 to 20 μg/ml for caffeine.

Caffeine: The drug is not available in India at present.

The drug of choice would be caffeine, which is not available in India. Hence we prefer to use aminophylline as the drug of choice in the management of AOP.

·         Injection doxapram has 0.9% benzyl alcohol as a preservative. The recommended dose of 2-2.5 mg/kg/hr would deliver 21.6-32.4 mg/kg/day of benzyl alcohol. Although this dose is below the toxic dose of alcohol (45 mg/kg/day), there have been case reports of “gasping syndrome” with this lower dose in literature.

·         Similarly, extubation to CPAP following early surfactant administration (‘INtubateSURfactantExtubate’ = INSURE Approach) has been shown to reduce the need for mechanical ventilation but it is still uncertain if BPD is reduced by this approach.

·         Preterm infants are susceptible to oxidant injury because they are deficient in antioxidant enzymes. Hence, antioxidants such as superoxide dismuatase (SOD) promise to be an exciting strategy for prevention of BPD. A randomized trial that enrolled around 300 infants proved the safe nature of the drug CuZnSOD, but did not find any difference in the primary outcome of BPD at 36 weeks PMA. Interestingly, SOD treated infants had fewer episodes of respiratory illness at I year of age suggesting that the drug could prevent long-term lung injury caused by reactive oxygen species.43 Further studies are needed to define its exact role in the management of BPD. Other antioxidants/free radical scavengers like vitamins C and E, allopurinol, N-acetyl-Cysteine have not been proved to be useful till now.

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·         Spitzer's laws of neonatology

1.       The more stable a baby appears to be, the more likely he will "crump" that day.

2.       The nicer the parents, the sicker the baby.

3.       The likelihood of bronchopulmonary dysplasia (BPD) is directly proportional to the number of physicians involved in the care of that baby.

4.       The longer a patient is discussed during rounds, the more certain it is that no one has the faintest idea of what is going on or what to do.

5.       The sickest infant in the nursery can always be discerned by the fact that he or she is being cared for by the newest, most inexperienced nursing orienteer.

6.       The surest way to have an infant linger interminably is to inform the parents that death is imminent.

7.       The more miraculous the "save," the more likely that you will be sued for something totally inconsequential.

8.       If they are not breathin', they may be seizin'.

9.       Antibiotics should always be continued for ____ days. (Fill in the blank with any number 1-21.)

10.   If you cannot figure out what is going on with a baby, call the surgeons. They won't figure it out either, but they will sure as hell do something about it.

·         Yale Observation Scales

This set of six items of observation and physical signs was designed at Yale to assist in detecting serious illness in febrile children who were <24 months old. Normal (1 point), moderate impairment (3 points), and severe impairment (5 points) scores are given for quality of cry, reaction to parental stimulation, state of alertness, color, hydration, and response to social overtures. Scores of =10 correlate with a low likelihood of serious illness, primarily in infants >2 months old

Pediatric Immunology

·         Patients with antibody deficiency are usually recognized because they have recurrent infections with encapsulated bacteria or a history of failure of responding to antibiotic treatment; some individuals with selective IgA deficiency or infants with transient hypogammaglobulinemia may have few or no infections.

·         XLA , CVID: extracellular pyogenic organisms, such as Streptococcus pneumoniae and Haemophilus influenza, Mycoplasma are also particularly problematic. Chronic fungal infections are seen; Pneumocystis carinii pneumonia rarely occurs. Viral infections are usually handled normally with the exceptions of hepatitis viruses and enteroviruses. Several examples of paralysis after live polio vaccine administration have occurred, and chronic, eventually fatal central nervous system infections with various echoviruses have also occurred.

·         SCID: giardia

·         SCID: low-grade or opportunistic pathogens, including fungi, viruses, and Pneumocystis carinii (jiroveci), and to graft versus host disease (GVHD) from nonirradiated blood transfusions.

·         MHC Class II DEFICIENCY: persistent diarrhea that is often associated with cryptosporidiosis and enteroviral infections (e.g., poliovirus, coxsackievirus). They also have an increased frequency of infections with herpesviruses and other viruses, oral candidiasis, bacterial pneumonia, P. carinii (jiroveci) pneumonia, and septicemia.

·         WAS: Streptococcus pneumoniae and other bacteria having polysaccharide capsules cause otitis media, pneumonia, meningitis, and sepsis. Later, infections with agents such as P. carinii (jiroveci) and the herpesviruses become more frequent.

·         G6PD Def, CGD: Recurrent pyogenic infections with catalase-positive microorganisms

·         Leukocyte adhesion deficiency 1,2: recurrent bacterial infection associated with a lack of pus formation WITH NEUTROPHILIA

·         Hyperimmunoglobulin E syndrome: Recurrent skin and sinopulmonary infections

·         GSD Ib: Recurrent infections with neutropenia

·         Terminal complement defects (C5, C6, C7, C8, and C9) are associated with recurrent infections with Neisseria.

·        

 ataxia-telangiectasia: S. pneumoniae or H. influenzae type b are common, as is P. carinii pneumonitis.

Miscellaneous in Pediatrics

·         Acrodynia, characterized by erythemia, peeling, and neurologic signs, is characteristic of mercury toxicity.

·         Potassium iodide protects the thyroid against radiation in cases of explosion/accidents, and the sooner it is given the better.

·         The organic forms of arsenic found in seafood (primarily arsenobetaine) are nontoxic but may confound the results of urinary assays for arsenic.

·         Dimercaprol is contraindicated for chelation of methylmercury because BAL redistributes mercury to the brain from other tissue sites, resulting in increased neurotoxicity.

·         Clitoromegaly is defined by width, and in an adolescent a clitoris is wider than 10 mm is considered enlarged. Other signs of virilization should be looked for such as facial hair, baldness, acne, and any palpable gonads.

·         The leukocyte esterase test will identify the presence of inflammatory white cells in the discharge. It is a good screening test for vagivitis in child.

·         Behcet’s Disease responds to COLCHICINE.

·         Most dysgerminomas are associated with XY gonadal dysgenesis. Y-DNA chromosome probes help with this diagnosis.

·         a-Fetoprotein is a useful marker in the management and follow-up of patients with an endodermal sinus tumor.

·         Nonspecific vaginitis most often occurs in prepubertal girls who wear tight-fitting clothing (leotards) or are exposed to vaginal irritants (soaps) or have poor hygiene. It is often due to coliform bacteria or group A streptococci. Metronidazole is not indicated for this form of nonspecific vaginitis. If the process is recurrent, amoxicillin may be of value.

·         Patients with Smith–Lemli–Opitz Syndrome (SLOS) often have multiple congenital anomalies and developmental delay caused by low plasma cholesterol and accumulated precursors.

·          

·         Responses to Iron Therapy in Iron-Deficiency Anemia

TIME AFTER IRON ADMINISTRATION	RESPONSE
12–24 hr	Replacement of intracellular iron enzymes; subjective improvement; decreased irritability; increased appetite
36–48 hr	Initial bone marrow response; erythroid hyperplasia
48–72 hr	Reticulocytosis, peaking at 5–7 days
4–30 days	Increase in hemoglobin level
1–3 mo	Repletion of stores

·         Metachromatic Leukodystrophy

MS equivalent in a child

Arylsulfatase deficiency

·         Continous murmur in the brain of a newborn baby indicates an AVM

§  Osler-Weber-Rendu syndrome-

·         multiple AVMs in lung

·         Continous murmur in the lung

§  Von Hippel Landau

·         Multiple AVM in brain and abdomen

·         Short arm of chromosome 3 is responsible

·         High incidence of renal cell carcinoma (Like tubular sclerosis)

·         Polyhydramnios= baby can’t swallow or absorb fluid (neurological, muscular problem, GI obstruction)

o   Mom continues to make 80% of the amniotic fluid but the baby isn’t swallowing it = the baby has a Neuromuscular disease (swallowing is a reflex) or GI obstruction

§  Think of Werdnig – Hoffman Syndrome

o   Duodenal or esophageal Atresias can present this way.

·         Oligohyramnios = Low amnionic fluid

o   Baby has renal defect (agenesis/obstruction) and can’t pee → can’t add 20%

§  Will cause increased pressure on the baby because there is no Amnionic fluid to protect the baby from any trauma

o   Potter’s syndrome

§  See the physical manifestation of oligohydramnios

§  ­ atmospheric pressure will cause facial deformity and baby’s facial features to be flattened (due to pressure) = smashed face

·         Key anatomical reference points for umbilical arterial catheterization.

Structure	Vertebral level
Ductus	T4-5
Coeliac artery	T12
Superior mesenteric artery	T12-L1
Renal artery	L1
Inferior mesenteric artery	L3
Aortic bifurcation	L4-5

·         Sudden infant death syndrome (SIDS) is a heterogeneous, multifactorial disorder, but by definition it refers to sudden death of infant under 1 year of age that is unexplained after thorough examination. Most cases of SIDS occur between 2 and 4 months of life, and the child usually dies during sleep (“crib death” or “cot death”). A risk factor for SIDS is sleeping in a prone position. Therefore healthy infants should sleep on their back or side. Maternal factors associated with SIDS include age less than 20, being unmarried, low socioeconomic group, smoking, and drug abuse. Infant factors associated with SIDS include prematurity, low birth weight, male sex, and a history of SIDS in a sibling.

·         Hemorrhagic disease of the newborn:

Phenytoin, phenobarbital, and primidone may cause hemorrhagic disease of the newborn. The exact mechanism is unknown but is related to vitamin K deficiency, which results in suppression of factors II, VII, IX, and X. Therefore, it is recommended that exposed infants receive vitamin K in the delivery room and be closely observed for signs of a clotting abnormality.

Carbamazepine and valproic acid are not associated with this effect.

·         Hircismus is offensive axillary odor.

·         THE "I"SSENTIALS OF ADHD

1.       Inattention

2.       Increased activity

3.       Impulsiveness

4.       Impairment in multiple settings

5.       Inappropriate (for developmental stage)

6.       Incessant (persists for >6 months)

·         THREE ESSENTIAL FEATURES OF AUTISM

1.       Impaired social interaction

2.       Absent or abnormal speech and language development

3. Narrow range of interest and stereotyped or repetitive responses to objects

·         Up to two thirds of children with spinal cord injuries have SCIWORA (spinal cord injury without radiographic abnormality). Most of these patients are <8 years old and have signs and symptoms that are consistent with spinal cord injury, but x-ray and CT studies reveal no bony abnormalities. It is postulated that the highly malleable pediatric spine allows the cord to sustain injury from flexion/extension forces without causing bony disruption. The more recent use of MRI among these children may help to clarify the cause(s). The initial neurologic complaints of these children should be taken seriously. Even with normal x-rays, a patient with an altered sensorium or with neurologic abnormalities that are consistent with cervical cord injury (e.g., motor or sensory changes, bowel/bladder problems, vital sign instability) requires continued neck immobilization and more extensive evaluation.

·         CAUSES of Hypercalcemia:

Remember the "High 5-Is rule": H (hyperparathyroidism) plus the five Is (idiopathic, infantile, infection, infiltrations, and ingestions) and S (skeletal disorders).

Hyperparathyroidism

• Familial
• Isolated
• Syndromic

Idiopathic

• Williams syndrome

Infantile

• Subcutaneous fat necrosis
• Secondary to maternal hypoparathyroidism

Infections

• Tuberculosis

Infiltrations

• Malignancy
• Sarcoidosis

Ingestions

• Milk-alkali syndrome
• Thiazide diuretics
• Vitamin A intoxication
• Vitamin D intoxication

Skeletal disorders

• Hypophosphatasia
• Immobilization
• Skeletal dysplasias

·         Albright hereditary osteodystrophy, a type of pseudohypoparathyroidism, is characterized by short stature, obesity, developmental delay, and brachydactyly (the shortening of hand bones).

·         Mid-parental height: This is an estimate of a child's expected genetic growth potential based on parental heights (preferably measured rather than by history).

For girls: ([father's height - 13 cm] + [mother's height])/2.

For boys: ([mother's height + 13 cm] + [father's height])/2.

·         Bone age as a diagnostic key: Genetically determined short stature (bone age = chronologic age) versus constitutional delay (bone age < chronologic age.

·         Midline defects (e.g., single maxillary incisor, cleft lip/palate) and short stature suggest hypopituitarism.

·         ACRODERMATITIS ENTEROPATHICA: Diarrhea, hair loss, and dermatitis are the presenting signs of rare autosomal recessive disorder. The name nicely describes the disorder: there is a classic acral distribution of the rash. It is usually eczematous, often with a vesiculobullous or pustular component, and it involves skin around the body orifices as well. As for enteropathica, serum zinc levels are extremely low as a result of impaired gastrointestinal absorption. Dietary insufficiency of zinc may give an identical clinical picture. This has been found in children on long-term total parenteral nutrition without sufficient zinc and in very premature infants as a result of decreased stores and increased requirements.

·         Alagille syndrome (arteriohepatic dysplasia). Also called syndromic bile duct paucity, this condition consists of a constellation of conjugated hyperbilirubinemia and cholestasis, typical triangular facies, cardiac lesions of pulmonic stenosis, peripheral pulmonic stenosis, or, occasionally, more significant lesions, butterfly vertebrae, and eye findings of posterior embryotoxon and Axenfeld's anomaly or iris processes. The patient may have extreme cholestasis, with pruritus and marked hypercholesterolemia. Although some patients have developmental delay, most develop appropriately. The usual mode of inheritance of Alagille syndrome is autosomal dominant.

·         "FAT BABY" SYNDROMES

1. Prader-Willi (obesity, hypotonia, small hands and feet)
2. Beckwith-Wiedemann (macrosomia, omphalocele, macroglossia, ear creases)
3. Sotos (macrosomia, macrocephaly, large hands and feet)
4. Weaver (macrosomia, accelerated skeletal maturation, camptodactyly)
5. Bardet-Biedl (obesity, retinal pigmentation, polydactyly)
6. Infants of diabetic mothers

·         SYNDROMES AND MALFORMATIONS ASSOCIATED WITH CONGENITAL LIMB HEMIHYPERTROPHY:

1. Beckwith-Wiedemann syndrome
2. Conradi-Hünermann syndrome
3. Klippel-Trenaunay-Weber syndrome
4. Proteus syndrome
5. Neurofibromatosis
6. Hypomelanosis of Ito
7. CHILD syndrome (congenital hemidysplasia, ichthyosiform erythroderma, limb defects)

·         Kostmann syndrome is severe congenital neutropenia. At birth or shortly thereafter, very severe neutropenia (absolute neutrophil count of 0-200/mm3) is noted, often at the time of significant bacterial infection (e.g., deep skin abscess, pneumonia, sepsis). Even with antibiotic treatment, there is a high mortality during infancy unless granulocyte colony-stimulating factor therapy is used to elevate the neutrophil count. An alternative treatment is bone marrow transplantation from an HLA-identical sibling donor.

·         Autoimmune lymphoproliferative syndrome (also known as Canale-Smith syndrome). Patients display a nonmalignant, noninfectious lymphoproliferation with splenomegaly, chronic lymphadenopathy, and, often, hepatomegaly. Lymphocytes persist that normally would die. Diagnosis rests on increases in alpha/beta T-cell antigen receptor positive, CD4-CD8-(i.e., double negative) T cells, and defective in vitro Fas-mediated lymphocyte apoptosis.

·         CLASSIC COMPLEMENT CASCADE EVALUATION:

The primary screening test is the CH50. This test assesses the ability of an individual's serum (in varying dilutions) to lyse sheep red blood cells after those cells are sensitized with rabbit IgM anti-sheep antibody. The CH50 is an arbitrary unit that indicates the quantity of complement necessary for 50% lysis of the red blood cells in a standardized setting. Test results are usually expressed as a derived reciprocal of the test dilution needed for 50% lysis. The test is relatively insensitive because major reductions in individual complement components are necessary before the CH50 is altered. Therefore, determination C3 and C4 levels are often included in the initial screening of a child with a suspected complement deficiency.

·         PFAPA is the acronym for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis, a clinical syndrome of unclear etiology that is responsive to very short courses of corticosteroids for individual episodes and is perhaps the most common cause of regular, recurrent fevers in children.

·         The most common complications of IVH include posthemorrhagic hydrocephalus, seizures, and the parenchymal cerebral injury associated with grade IV bleeds.

·         The four CARDINAL SIGNS OF CONGESTIVE HEART FAILURE in small children

1. Tachycardia

2. Tachypnea with shallow respirations and retractions

3. Cardiomegaly

4. Hepatomegaly

·         Adult Diarrhea is Isotonic, Child’s is hypotonic.

·         Y chromosome material is present in 5-10% of girls with Turner syndrome. Gonadoblastoma may develop in the ovary, thus necessitating bilateral oophorectomy as a preventive measure.