Neonatology Diseases: Sx, Tx, Dx Flashcards
Sturge Weber Syndrome
- Vascular cutaneous malformation w/ trigeminal distribution
- Port wine stain (Facial Angioma)
- Also involves meninges
- Seizures, MR, contralateral hemiparesis *Choroidalangiomas
Twin to Twin Transfusion
- 15% of monochorionic twins
- S/Sx: Hct difference of ≥15% between twins *Recipient: Polyhydraminos, plethora, ↑Hct, hyperviscosity syndrome, hyperbilirubinemia
Polydactyl
- Postaxial (5th finger side)
- Normal occurrence in AA
- Tx: Surgical removal
- Abnormal in whites; Careful cardiac exam
- Preaxial(thumb)
- Abnormal in all races
- Investigate further *Associated w/ Trisomy 13
Cleft Lip and Palate
*Complications: Recurrent otitis media, Hearing loss, Speech defects
*Tx: Repair
Lip: 2-3m
Palate: 6mto5y
Propanolol (during pregnancy)
- Causes growth retardation, hypoglycemia, apnea
* Decreases ability of asphyxiated newborn to ↑HR/CO
Opioid (Narcotics) in Newborn
*Hx of maternal narcotic use
- Demerol for labor pain control
- Heroin
*S/Sx
Lethargic, limp, depressed respirations *Tx
Manage ABCs
Naloxone
Subgaleal (or subaponeurotic hemorrhage)
*S/Sx Similar feel to cephalohematoma (“squishy”), crosses midline (entire scalp), fluid wave Rapidly expands Signs of hypovolemia from hemorrhage Tachycardia *Tx Careful monitoring, transfer to NICU
Erb-Duchenne Palsy
o Cervicalnerves5and6
o S/Sx
Unable to abduct, externally rotate, or supinate
Arm will remain internally rotated at side w/ forearm protonated
Won’t move w/ Moro reflex
oMay co exist w/ phrenic nerve palsy (Cervicalnerves3,4,5)
Ipsilateral hemiparesis of the diaphragm
Asymmetry on inspiration when it doesn’t flatten
“See Saw”
Typically resolves on own
Clavicle Fracture
o Initial presentation may be pseudoparalysis Refusal to move arm
Mimics Erb-Duchenne
o Dx
Can be identified at birth by crepitus
Those not discovered in newborn present later with a callus formation
o Tx
Reassurance
Hypothermic Infant
o Interaction will ↑ metabolic rate and subsequently ↑ RR to maintain O2 Metabolic acidosis Become tachypenic o Tx Warmer
Bleeding in Newborn
o W/ hematemesis or melena first establish source
- Maternal vs. Fetal
- Apt-Downey test: Fetal Hb is alkali resistant
Breast Feeding Contradindications
o Active TB, HIV o Medications Antineoplastic, lithium, cyclosporine, illicit drugs, amphetamines, ergotamines, and bromocriptine (↓ lactation) Most ABx safe (except Tetracyclines) o Galactosemia
Acrocyanosis
o W/ Cutis Marmorata (mottling of the skin w/ venous predominance) Vasomotor instability
Milia
o Small cysts around the pilosebaceous follicles
White papules surrounding the nose Disappear in 1st weeks
Pustular Melanosis
o Benign transient rash characterized by small dry superficial vesicles over a dark base o Blacks
o Differentiate from HSV or Bacterial (ex. Impetigo)
o Lesions are filled w/ eosinophils
Erythema Toxicum Neonatorum
o Benign rash in first 72h o Erythematous macules, papules, & pustules (flea bite like) -On trunks & extremities - Not palms/soles o Lesions are filled w/ eosinophils
Nevus Simplex (Salmon Patch or Telangiectastic Nevus)
o Most common vascular lesion of infancy
o Pink macular lesion on nape of neck (stork bite), upper eyelids, galbella, or nasolabial
folds
Nevus Flammeus (Port Wine Stain)
o Capillary hemangioma over face or trunk
o Those over CN V-1 (Trigeminal) may be associated w/ intracranial or spinal vascular
malformations, seizures, & intracranial calcifications
- Sturge-Weber Syndrome
Neonatal Acne
1-2w after birth (not present @ birth)
Caput Succedaneum
o Diffuse edema of soft tissue of the scalp that crosses sutures & midline
o Can sometimes be ecchymotoic
Cephalohematomas
o Subperiosteal hemorrhages secondary to birth trauma, confined by sutures (bc
subperiosteal)
o No ecchymosis discoloration
o Usually parietal or occipital bones
Craniosynostosis
o Premature skull fusion
Abnormal shape
Macroglossia
o Beckwith-Wiedeman Syndrome
Hemihypertrophy, visceromegaly, macroglossia
o HoThyroidism
Midline clefts or Masses
o Goiter
Secondary to maternal antithyroid meds or maternal thyroid stimulating Auto
Ab
Neonatal Torticollis
o Asymmetric shortening of SCM
o Causes
Fixed position in utero
Postnatal hematoma
Periodic Breathing
o Normal in preterms
Irregular breathing w/ short apenic bursts ≤5 to 10s
Umbilicus
o 2 arteries, 1 vein
1 artery suggests renal malformation
Diastasis Recti
o Separation of the rectus abdominis @ midline
o Benign
Umbilical Hernia
o Soft swelling beneath umbilicus
o May protrude during crying
o Most close spontaneously
Persistent Urachus
o Urine draining from bladder to umbilicus
Hydrometrocolpos
o Cysts between the labia
Caused by an imperforate hymen and collection of secretions behind
Male Genitalia
- Hypospadias
- Epispadias
- Hydrocele
- Cryptorchidism
o Hypospadias Urethral Meatus Ventral Not associated w/ ↑ incidence of urinary malformations o Epispadia Urethral Meatus Dorsal Often associated w/ bladder extrophy Protrusion of bladder from abdominal wall, w/ exposure of its mucosa Extremities o Hydrocele Scrotal swelling Fluid in tunica vaginalis Resolve spontaneously o Cryptorchidism Surgery should not take place
Absence/ Hypoplasia of Radia
o TAR Syndrome (thrombocytopenia, absent radii), Fanconi Anemia, Holt-Oram
Syndrome
Edema of Feet w/ Hypoplastic Nails
Turner Syndrome & Noonan Syndrome
Rocker Bottom Feet
Trisomy 18
Post-Term
o Placental insufficiency
Intrauterine asphyxia, meconium aspiration, polycythemia
Small for Gestational Age (SGA)
o Complications
Hypoxemia, perinatal asphyxia, hypocalcemia, Hypomagnesaemia
Floppy
Polycythemia (>65% Hct)
From ↑ erythropoietin in response to hypoxia
↑ blood viscosity; “hyperviscositysyndrome” ; Jittery, seizures
Changes in cerebral blood flow Renal V. thrombosis
NEC
o Tx
- Partialexchangefusion
o Hypothermia
From ↓ability to thermoregulate from ↓ subq fat
o Hypoglycemia
From ↓ glycogen stores
Manage w/ early and frequent feeds
o Associated w/ higher incidence of major congenital abnormalities
Large for Gestational Age
o Causes
Diabetes, Beckwith-Wiedmann Syndrome, Prader-Willi Syndrome, Nesidioblastosis (diffuse proliferation of pancreatic islet cells)
Cyanosis
o Related to the amount of unoxygenated Hb
>3 arterial or >5 capillary
o Causes
-5 T’s of Cyanotic CHD, Polycythemia, intraventricular hemorrhage, hypoglycemia, hypocalcemia, hypothermia, HoThyroidism
o 100%O2Test
-w/ Cyanotic Heart Disease (slight ↑)
Those w/ ↓ Pulmonary blood flow (ex. TOF) will only have slight ↑ in PaO2 (10-15 mmHg)
-w/ Normal or ↑ Pulmonary blood (ex. Truncus Arterious), PaO2 will ↑ ≥15-20 mmHg, but not close to 150mmHG total
-w/ Lung Disease
PaO2 will ↑ a lot (≥150 mmHg)
Except w/ Persistent Pulmonary HTN of NewBorn
May have a large R→L shunt through PFO or PDA
PaO2 will not ↑ ≥10-15 mmHg
Respiratory Distress Syndrome, RDS (Hyaline Membrane Disease or Surfactant deficiency
Syndrome)
o Sufficient surfactant @ 30-32w
RDS more likely/severe 28d Need supplemental O2 for >28d
Characteristic CXR
Retinopathy of prematurity
Term infant w/ Respiratory Distress
o Persistent Pulmonary HTN (PPHN)
Especially w/ C section
o Meconium Aspiration Syndrome (MAS)
Especially post term
Persistent Pulmonary HTN (PPHN)
o Any condition other than CHD w/ low blood flow to the lungs after birth
o Causes
Perinatal asphyxia
Can result in ↑ pulmonary pressure while the systemic BP falls
o Causes a persistent R to L shunt across PDA or PFO Results in PPHN
MAS (meconium aspiration syndrome)
Any cause of fetal stress o ↑PVR
R→L Shunt through PFO or PDA o Cyanosis from Respiratory Failure
o Pre and Post Ductal PO2 differences
o CXR
?
o Echo
Rule out CHD, assess shunt
o Tx
O2
Important b/c hypoxemia is a potent vasoconstrictor (want to ↓PVR)
NO
Meconium Aspiration Syndrome (MAS)
o Respiratory distress in term or post term newborn
o “PeaSoup” or Meconium stained amniotic fluid
o Meconium (first stools)
Can be passed as result of distress (e.g. hypoxemia)
o CXR
↑ Lung Vol, diffuse patchy atelectasis, parenchymal infiltrates alternating w/ hyperinflation
Possible pneumothorax
Diminished breath sounds on side
Loss of lung markings on CXR
o Endotracheal Suction after whole body is delivered (not intrapartum or after head only)
Apnea of Prematurity
o Respiratory pause >20s o Caused by immature respiratory center o Or pause of any length if accompanied by bradycardia/cyanosis or O2 desat o Types Central -Absent chest wall movement & no airflow Apnea secondary to Obstruction -Chest wall movement w/out airflow Won’t show as apnea on home monitors o Tx Maintain neutral temp environment & Stimulation Respiratory stim med Caffeine or Theophylline
Neonatal Jaundice
o Visible jaundice in neonate TB >5 o Peak
Term: Day 3-4
Preterm: Day 5-7 o Evaluate always if
Jaundice in .5/hour
Suggestive of hemolysis o DirectHyperbiliEval
Hepatic US (Choledochal Cyst), Serology (Hepatitis), Radio isotope scan for hepatobilliary tree (biliary atresia), sepsis
o Tx
Phototherapy
Exchange transfusion for rapid rises in TB from hemolysis or extremely high TB
Complications: coagulopathy (bleeding)
o Complications
Indirect crosses BBB
Acute Bilirubin encephalopathy
o High pitched cry, lethargy, poor feeding, hypotonia
Localizes in Basal Ganglia & Hippocampus
Heroin Withdrawal
o Jitteriness, hyperreflexia, irritability, tremulousness/tremors, feeding intolerance
o High pitched cry
Esophageal Atresia w/ Transesophageal Fistula (TEF)
o Often associated w/ Polyhydramnios
o Copious oropharyngeal secretions
↑ risk of aspiration, choking, or pneumonia feeding attempted o Associatedmalformations
CHD, anorectal, renal, skeletal, or the VACTERL Association CH5 III.A.8
o Evaluation
Insert oral gastric tube until resistance
Omphalocele
o Centrally
Through umbilicus o True hernia sac
Covered w/ peritoneal sac
But not w/ skin like in an umbilical hernia (which can resolve on own, usually
protrudes w/ crying)
o Frequent association w/ other congenital malformations (heart, kidney)
CHD
TOF & ASD
Beckwith-Wiedemann Syndrome
Exophthalmos, macroglossia, gigantism, hyperinsulinemia,
hypoglycemia, midline defects (eg. Omphalocele)
o Dx: Polyhydramnios on US
90% diagnosed Prenataly (so usually pt. w/ no prenatal care)
o Tx
Surgery
Gastroschisis
o Fissure of abdominal wall located right paraumbilical area (nonmidline)
Umbilicus looks normal
o Not true hernia sac
No peritoneal sac covering
o No association w/other malformations
o Increased risk of damage to bowel from exposure to amniotic fluid
o Tx
Immediately wrap in sterile saline dressings and cover in plastic
Surgery
Intestinal Obstruction
o Meconiumileus
Wrap in sterile wet gauze
CF
Air remains trapped in meconium giving it a soap bubble appearance on XR
Hypoglycemia
o Glc
Infants of Diabetic Mothers
o Large bc of ↑ body fat and visceromegaly Liver, adrenals, heart
o Typically LGA, but can be SGA if mother has serious DM w/ vascular complications causing placental insufficiency
o Complications
Hypoglycemia (typically 1st 24h), polycythemia, hypocalcemia (typically 48-
96h), hypomagnesaemia Hypertrophic Cardiomyopathy, PPHN, RDS, renal vein thrombosis
Hypocalcemia presents w/ twitching/tremors, seizures, arrhythmias o Tx:IVCalciumGluconate
Malformations
Structural heart, CNS, Musculoskeletal, Hypoplastic Left Colon, Caudal
Regression Syndrome (hypoplasia of the sacrum and LE)
Polycythemia
o Hct>65%
o Causes
↑ Erythropoietin in response to placental insufficiency, fetal hypoxia, ↑
placental transfusion from delayed cord clamping
o Tx
Partial Exchange Transfusion
Blood is removed and then replaced w/ same volume of plasma (normal saline)
Choanal Atresia
o S/Sx
Trouble breathing when sleeping or eating
Improved breathing w/ crying o Dx
Unable to pass NG tube
Lack of fogging on a cold metal instrument under the nares
o CHARGE association
Coloboma
Absence or defect of ocular tissue
o Usually the retina
o Impaired vision
Heart disease (TOF)
Atresia of the choanae
Retarded growth and development
Genital hypoplasia
Ear abnormalities (cup ears & hearing loss)
