Brandau and Dao Flashcards

1
Q

Coloboma

A

An absence or defect in tissue

A hole in one of the structures of the eye: iris, retina, optic disk

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2
Q

Classes of congenital malformations

A
  1. Chromosomal disorders: mother’s age, family history, characteristic physical findings
  2. Mandelian defects: family history, unexplained neonatal deaths, characteristic physical findings
  3. Infections
  4. Maternal diseases: diabetes, hypertension
  5. Drugs/toxins
  6. Irradiation
  7. Multifactorial causes
  8. Unknown
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3
Q

Signs to be suspicious of CHARGE syndrome

A

Coloboma, heart defect, choanal atresia

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4
Q

CHARGE syndrome

A
C-colomba
H- heart defects
A- choanal Atresia
R- retardation of growth
G- genitourinary problems
E- ear, olfactory, and other cranial nerve problems --> abnormal circular canals
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5
Q

Physiology of CHARGE

A

Microdeletions in gene CHD7, located at 8q12

CHD7- nuclear protein that appears to be associated with nucleosome remodeling. This protein may target genes in a HOXA cluster which is involved in CNS, digestive, and head development

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6
Q

VATER/VACTERL

A

V-Vertebral defects
A- Anal atresia
T-E- fistula with esophageal atresia
R- Radial and Renal dysplasia

C for cardiac defects
L for limb defects

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7
Q

Syndrome vs Association

A

Syndrome has a defined genetic cause. Association does not

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8
Q

Before birth IEM

A

hemoglobinopathies leading to hydrops fetalis

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9
Q

At birth IEM

A

congenital lactic acidosis

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10
Q

Sudden death usually at age 2-3 days of age IEM

A

Defects in fatty acid oxidation

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11
Q

Deterioration after a symptom free period IEM

A

Adrenal insufficiency

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12
Q

Patterns of deterioration that suggests IEM

A
  • Unexplained hypoglycemia
  • Disorders of acid-base status
  • Neurological deterioration
  • Cardiac disorders: arrhythmias and cardiomyopathy
  • Acute parenchymal liver disease
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13
Q

Endocrine causes of hypoglycemia in infancy

A
Adrenal insufficiency
Growth hormone deficiency
Hypothyroidism
Hyperinsulinemia
Hypopituitarism
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14
Q

Metabolic causes of hypoglycemia in infancy

A

Disorders of carbohydrate metabolism
Disorders of Gluconeogenesis
Disorders of Organic acid metabolism
Disorders of fatty acid oxidation and carnitine transport

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15
Q

Other causes of hypoglycemia in infancy

A

Drugs

Sepsis

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16
Q

Presentations of hypoglycemia in infancy

A
  • Hypoglycemia and liver failure
  • Hypoglycemia with hepatomegaly
  • Recurrent intractable hypoglycemia
  • Neurological deterioration
17
Q

3 disorders to consider if evidence of liver failure remains despite correction of hypoglycemia

A
  1. Galactosemia
  2. Hereditary fructose intolerance
  3. Tyrosinemia type I
18
Q

Hypoglycemia with hepatomegaly

A

Infants presenting with hypoglycemia that maintain normal glucose levels with permanent glucose provision without signs of liver failure with hepatomegaly may have glycogen storage diseases

19
Q

Recurrent intractable hypoglycemia

A

Infants that cannot maintain adequate glucose levels despite constant glucose provision w/out evidence of ketoacidosis most likely will have hyperinsulinemia

20
Q

Neurologic deterioration

A
  • Most common presentation is usually seizures and hypotonia
  • Can be caused by a variety of conditions including organic acidemias, urea cycle defects, maple syrup urine disease, fatty acid oxidation defects, and congenital lactic acidosis
  • Rate of deterioration depends on the nature and severity of the defect
21
Q

What are newborns given after delivery

A
  • Erythromycin ointment in eyes to prevent infection
  • Vitamin K injection to prevent bleeding
  • Full bath
22
Q

What do infants receive prior to discharge?

A
  • First hepatitis B immunization
  • Hearing screen

Fever in a neonate is an emergency (100.4)

23
Q

Recommended vaccinations for infants 2-6 months

A
RV
DTaP
Hib
PCV
IPV
24
Q

Newborn 2-5 days old

A
  • Back to sleep
  • Vitamin D supplementation for breastfed babies
  • No honey for first year of life
  • Set water heater to 120F
25
Q

Common issues at one month check

A
  • Constipation
  • Colic
  • Congestion
    RR: 40-60/min
    HR: 120-160/min
26
Q

Infant

A
  • Must be flexible with exam sequence- heart/lungs first

4 months

  • Start solids
  • Sleep
  • Safety: infants can drown in 1 inch of water
27
Q

Caput succedanum

A

Crosses suture lines

28
Q

Otitis media

A

S. pneumoniae
H. influenza
M. catarrhalis

Children have wider, shorter, Eustachian tubes as compared to adults. Predisposes them to otitis media

29
Q

Palmar grasp

A

Place finger in hand and press against palmar surface –> grasps finger

B to 4m

30
Q

Plantar grasp

A

Touch sole at base –> toes curls

B to 9m

31
Q

Moro (startle reflex)

A

Hold supine support head, back, legs, abruptly lower 2 ft –> arms abduct and extend, hands open, and legs flex. Maybe cry

B to 4m

32
Q

Rooting

A

Stroke perioral skin at corner mouth –> mouth opens and turns head toward side stimulated

B to 3-4 m

33
Q

Infancy milestones

A
  • Social smile and coos at 2 months
  • No head lag with pulling infant to a sitting position by 4 mon
  • Pincer grasp around 8-9 month –> anticipatory guidance about choking hazards at 6 mon check up. Keep small objects away from infant
34
Q

Early childhood milestones

A

Speech
Age 2: 2 word sentences
Age 3: speech is 3/4 understandable to stranger
Age 4: 100% understandable to all

35
Q

Impetigo

A

Honey crusted lesions-red, crusting, dried pus or discharge, oozing patches

Staph infections- sometimes secondary to scratching of skin- itching from other etiologies

Treatment- topical antibiotic cream