Exam 1 Diagnosis Flashcards by Julia B

Sx of Neonatal Abstinence Syndrome (NAS)

Hyperirritability/High-pitched excessive crying
Tremors
GI Disturbances
Hypertonia, exaggerated primitive reflexes
Feeding difficulties
Autonomic Dysfunction (sweating, fever, mottling, yawning)
Failure to thrive

May have: seizures, SGA, resp distress

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What is Neonatal Abstinence Syndrome (NAS)?

Result of sudden discontinuation of fetal exposure to substances abused my mother (such as opioids)

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Requirements of FAS diagnosis

small palpebral fissures (eye), smooth philtrum, thin upper lip
+ growth deficits
+ CNS abnormality

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How does transient tachypnea of newborn

(TTN ) occur?

impaired fetal lung fluid clearance, late in gestation Cl and fluid secreting ch switch from secretion to absorption, process is enhanced by labor

(RF= c-section & prematurity)

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Clinical presentation of TTN

Labs

tachypnea and ↑ work of breathing, lasts 24-72 hrs

CXR- diffuse parenchymal infiltrates (due to fluid in interstitium), fluid in interlobar fissure, occasional pleural effusions

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What is Respiratory Distress Syndrome/Hyaline Membrane Disease?

surfactant deficiency or dysfn → pulm edema → epithelial inj → ↓ Na absorption ch

RF: prematurity, preinatal asphyxia, maternal diabetes, absence of maternal steroid admin

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How does RDS present?

Labs?

w/in 1st hrs of life (usually right after delivery), marked resp distress, cyanosis

CXR- Ground glass pattern

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How does Meconium Aspiration Syndrome (MAS) occur?

fetus passes meconium before birth and aspirate it → inactivates surfactant→ obstructs distal air passages → hyperinflation and atelectasis

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Clinical presentation of meconium aspiration syndrome?

Labs?

meconium stained amniotic fluid → resp distress after delivery, tachypnea, cyanosis, ↑ work of breathing

CXR- diffuse, fluffy infiltrates

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What is 7. Primary Pulmonary Hypertension of the Newborn (PPHN)?

failure to achieve normal ↓ in pulmonary vascular resistance → R to L shunt across ductus arteriosus → hypoxemia

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Clinical presentation of PPHN

Labs

resp distress, cyanosis w/in hrs of birth

pulse ox showing cyanosis, echo to r/o structural heart dz, determine direction of shunt and assess ventricular fn

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What is apnea of prematurity?

cessation of breathing >15 s (or accompanied by bradycardia and desat)

universal feature of preterm birth that resolves by 36-40 wks

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What is congenital diaphragmatic hernia?

defect in diaphragm →cardiopulm abnormalities

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How does congenital diaphragmatic hernia present and how do you diagnosis it?

resp distress at birth, ↓ breath sounds and may head bowel sounds, MC on L side

dx prenatally w/ US

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When should you be considering TORCH?

Microcephaly
Intracranial calcifications
Rash 
Intrauterine Growth Restriction
Jaundice 
Hepatomegally 
Elevated transaminase

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What is Necrotizing Enterocolitis?

acute inflame necrosis of bowel primarily affecting premature infants caused by presence of abnormal microbio (Klebsiella, E. coli, clostridia, coag-neg staph, rotavirus)

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Clinical presentation of Necrotizing Enterocolitis

abdominal distention, feeding intolerance (emesis, increased residuals, bilious gastric output), hematochezia, discoloration of skin, temp instability, apnea, lethargy, poor perfusion, hypotension

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Radiographic imaging shows pneumatosis intestinalis (portal venous gas - free air) → football sign if progress to bowel perforation (air surrounding bowel)

What is the most likely diagnosis?

Necrotizing enterocolitis

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Clinical presentation of neonatal sepsis

Onset: 1st wk of life (early) or 1st 3 mo (late), resp distress, apnea, fever/temp instability, poor feeding, cyanosis, neruo abnormalities (seizures)

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W/U for neonatal sepsis

blood cx, urine cx, LP, CBC

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Clinical features of Down Syndrome

Atypical palpebral fissures
Small nose w/ low nasal bridge
Inner epicanthal folds
Brushfield spots
High arched palate
Relative macroglossia, fissures
Flat facial profile
Brachycephaly with flat occiput
Short neck, excess skin at nape
Hypotonia at birth
Single palmar crease
Widely separated 1st and 2nd toes

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What is Transient Myeloproliferative Disorder?

occurs in children with Down syndrome → appears like leukemia, may have assoc anemia and thrombocytopenia → tx is supportive

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lymphedema causing swollen hands and feet, webbed neck, low set ears, low hairline, broad chest w/ widely spaced nipples, ↑ incidence of hip dysplasia, amenorrhea or short stature

Turner Syndrome (X)

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W/u for Turner Syndrome

Karyotype

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usually present after pubertu with microorchidism (small testes) azoospermia (not prod. Sperm), sterility, gynecomastia, diminished facial hair

Klinefelter syndrome (XXY)

Signs of malnourishment, malabsorption, chronic illness, neglect

1st drop in weight curve | followed by height and finally head

Primary Microcephaly

Head Circumference <3rd percentile   Head growth remains below "Normal" range   Caused by number of inherited disorders or syndromes  

Secondary Microcephaly

Normal HC at birth then "falls off" the normal curve over months or years More concerning than primary   Caused by perinatal or post-natal insult e.g, asphyxia.

Dilation of ventricular system crossing growth curve percentiles split surures < 12 years old Inc ICP

hydrocephalus

enlargement of head | >97th percentile on growth curve but parallels the curve

Macrocephaly

Craniosynostosis

one or more of the fibrous sutures prematurely fuses → bone → changes growth pattern of the skull → trapezoid shape

Plagiocephaly

flattening of the head

School failure, cognitive loss, hyperactivity, aggression, inattention, distractibility and delinquent behaviors Abdominal colic, constipation, growth failure, hearing loss, microcytic anemia, dental caries, spontaneous abortions, renal disease, osteopenia, cardiovascular disease

lead posioning

Painless, gross blood in stool mucus | Presents in first 1-2 months of life

Food protein proctocolitis

Severe repetitive vomiting and diarrhea within hours of trigger food intake Presents between 2 and 7 months of age

Food Protein Induced Enterocolitis Syndrome (EPIES)

MC cause of Food Protein Induced Enterocolitis Syndrome (EPIES)

Cow’s milk and soy Can also be rice, oat, grains, egg, vegetables, poultry

What is the MC type of lactose intolerance in infants?

Secondary lactose intolerance such as after gastroenteritis or celiac disease

Increased gas, diarrhea (osmotic)

lactose intolerance

pernicious anemia, neuropathy, glossitis

vit b 12 deficiency

scurvy, pour wound healthing

vit C deficiency

vision, growth issues

vit A deficiency

anemia, neural tube defects, rash

folate deficiency

hemorrhage

vit k deficiency

hemolytic anemai, vision, enrvous system

vit E deficiency

vegan diet

risk for vit B 12 deficiency

edema, immunodeficiency

protein deficiency

marasmus

calorie deficiency

When are GI sx more applicable to allergy response?

if patient is KNOWN to have allergy and exposure

Sx of food alelrgies?

Urticaria, angioedema, emesis, rhinorrhea, wheezing, hypotension, anaphylaxis

Passive passage of gastric contents into esophagus with OR without regurgitation/vomiting NORMAL physiologic process, usually after meals, cause few or no symptoms Occurs several times a day in infants, children, adults

GER

Regurgitation/vomiting, weight loss or poor weight gain, irritability, heartburn/chest pain (older children), hematemesis, dysphagia, wheezing, stridor, cough, hoarseness

GERD

What age is GER most frequent?

1-6 mo peak at 3-4 mo usually resolves nby 12 mo

What is the MC surgical d/o in neonates?

pyloric stenosis

Usually between 3-6 months of age Vomiting (non-bilious) can begin within first several weeks Becomes increasingly forceful and projectile ``` Weight loss despite ravenous hunger Hypertrophied pylorus (“olive”) may be palpated ``` Hypochloremic, hypokalemic, metabolic alkalosis, dehydration

Pyloric Stenosis

sx 1st mo of life bilious emesis, developing to abd distention and peritonitis small bowel obstruction with volvulus mau have chronic emesis and diarrhea

Malrotation

Volvulus

Life-threatening condition associated with malrotation and twisting of the intestine on the mesenteric axis

What needs to be considered in an infant with bilious emesis?

volvulus

Upper GI series can demonstrate “corkscrew” appearance of the small bowel

volvulus

Characterized by “telescoping” of intestines

Intussusception

highest incidence of Intussusception

<2 years

Abdominal pain, vomiting, “currant jelly stools” Usually previously healthy, although some have preceding GI infection Severe and colicky pain, inconsolable when in distress Altered mental status Vomiting, fever, anorexia hypotonia, “sausage-like” mass in RLQ or RUQ

Intussusception

How do you diagnosis intussusception?

Ultrasound, CT, Air-contrast enema

Prevalence of ~2% in general pop Contains rests of ectopic tissue (2 types: gastric or pancreatic) Usually within 2 feet from ileocecal valve MC 2 inches long Children <2 years have highest risk

Meckel’s Diverticulum

Small bowel obstruction, lower GI bleeding, intussusception

Meckel’s Diverticulum

Diagnosis of Meckel’s Diverticulum

Meckel’s Scan

Neonate with abdominal distention, bilious emesis, large bowel obstruction OR Otherwise healthy infant with delayed passage of meconium

Hirschprung’s Disease

Infant/older child presenting with constipation requiring rectal stimulation to pass stool

Hirschprung’s Disease

Hirschprung’s Disease diagnosis

rectal exam may demonstrate increased tone; explosive bowel movement after exam KIB rectal bx If clinically suspected, refer to Pediatric GI/Pediatric surgery

What is GS to diagnosis Hirschsprung’s Disease?

Rectal biopsy, histology demonstrates absence of ganglion cells

Overflow and presence of constipation Stool withholding, accumulation of large mass of stool in rectum Liquid stool seeps around the mas of stool; cannot be controlled

Encopresis

Acute watery diarrhea lasting several hours to | days

Generally viral or toxin mediated

Acute bloody diarrhea

MC is Shigella Salmonella, Camphylobacter jeguni

Prolonged (7-14 days) or persistent (>14 days) | diarrhea

May be infectious (Giardia, Cryptosporidium, C. diff) Chronic Disease (celiac disease, IBD)

Signs of bowel obstruction Mass typically firm, discrete. Tender Often surrounded by erythema and edema of overlying skin Testicle may appear blue Pressure on spermatic cord venous congestion

Incarcerated Inguinal Hernia

Uncomfortable, but consolable Tolerates feeds Mass may be somewhat mobile, irreducible, non- tender Transillumination Area of “swelling” typically involves only the scrotum

Hydrocele

What side is MC affected for inguinal hernia?

right side

Dilation of pampiniform plexus Typically painless but may cause “dull ache” “Bag of worms”

Varicocele

What side is MC for Varicocele?

left side

Varicocele present only with Valsalva

Grade 1

Varicocele present without Valsalva, but not visible

Grade 2

Varicocele Visible with inspection

Grade 3

often due to brisk cremasteric reflex in boys > 1 year old

Retractile testes

What is the MC disorder of sexual differentiation in boys?

Cryptorchidism

When does testicular descent typically occur?

7-8 mo gestation

Cryptorchidism

delayed testicular descent

Micropenis

<2.5 SD for gestational age

What should you consider if theres Hypoglycemia + micropenis

congenital hypopituitarism

Eval of micropenis

Karyotype Assessment of anterior pituitary function Assessment of testicular function MRI to assess pituitary, hypothalamus and other midline CNS structures

1st deg Hypospadias

Distal

2nd deg Hypospadias

Midpenile may indicate disorder of sexual differentiation

3rd deg Hypospadias

Proximal consider VCUG because 5-10% will have dilated prostatic utricle may indicate disorder of sexual differentiation

Inability to retract the prepuce at an age when it should be retractable

Phimosis/Paraphimosis

Physiologic phimosis

natural in newborns Prepuce typically becomes retractable by age 3 years

Paraphimosis

retract, but then cannot extend

Pathologic phimosis

if previously retractable, or after puberty

Non-specific vulvovaginitis

Chemical irritant (soaps, detergents) MC than specific

Specific vulvovaginitis

Bacteria pathogens

Fusion of the labia minora Often no symptoms Can interfere with voiding urine Recurrent UTIs

Labial Adhesions

dysuria, frequency, urgency, enuresis, | suprapubic pain

Cystitis

all of the above, plus fever, chills, nausea/vomiting, flank pain

Pyelonephritis

Fever, irritability, vomiting, decreased appetite, lethargy, | hyperbilirubinemia, failure to thrive

UTI Symptoms in infants/toddlers

What should you consider in all febrile children < 24 months?

UTI

Children who have not had 6 months of dry nights

Primary Enuresis

Children who have previously attained 6 months of dry nights More likely to occur with new stressors or underlying medical condition

secondary Enuresis

Intermittent urinary incontinence during sleep | at least 5 years of age

Nocturnal Enuresis

Inability to awaken from sleep in response to full bladder

Primary nocturnal enuresis