diseases of the newborn belen amparo e. velasco, m.d

DISEASES OF DISEASES OF THE NEWBORNTHE NEWBORN

Belen Amparo E. Velasco, M.D.

BIRTH INJURIES

INTRACRANIAL INJURIES

SPINAL CORD INJURIES

NERVE INJURIES

INTRACRANIAL INJURIES

Most common site of fatal and disabling injury – intracranial cavity

Preterm – more prone to hypoxic cerebral injury – spontaneous intraventricular hemorrhage

Term infants – more prone to subdural hemorrhages which are traumatic in origin

INTRACRANIAL INJURIES CLINICAL MANIFESTATIONS: Nonspecific Most common:

Respiratory distress Pallor Lethargy/somnolence with poor response to stimuli

Hypo- or hyperreflexiaConvulsionsSigns of ICPUnequal pupilsTachy- or bradycardia

INTRACRANIAL INJURIES DIAGNOSIS: Clinical history/course Spinal taps (done in extreme caution) Cranial ultrasount vs CT scan of the head

TREATMENT: Minimal handling Management of ICP – fluid restriction Furosemide paCO2 25-30 torr Thermoregulation Oxygen and ventilatory support, as warranted Anticonvulsant for siezure Vitamin K for coagulation defect

SPINAL CORD INJURIES

Associated with difficult delivery

Types of injuryComplete transection – permanent paralysisPartial transectionCord compression – transient paralysis

NERVE INJURIES

BRACHIAL PALSY

FACIAL PARALYSIS

DIAPHRAGMATIC PARALYSIS

SCIATIC NERVE INJURY

BRACHIAL PALSY

ERB-DUCHENNE PARALYSISInjury to the 5th-6th crevical rootAbsent Moro on the affected side

KLUMPKE’S PARALYSISInjury to the 7th cervical and 8th thoracic rootLoss of sensory and motor fxn of hand and wrist

BRACHIAL PALSY

DIAPHRAGMATIC PARALYSISInjury to 4th cervical root

HORNER’S SYNDROMEInjury to the sympathetic ganglionCharacterized by ptosis, enophthalmos, miosis, and

anhydrosis of the face on the affected side

OTHER NERVE INJURIES

FACIAL PALSYInjury to the 7th nerve

SCIATIC NERVE INJURY

CLAVICULAR FRACTURE

Associated with difficult delivery esp shoulder dystocia

INTRAABDOMINAL INJURIES

More common in breech deliveries

Commonly ass with liver laceration and intraabdominal bleed

INFECTIONS OF THE NEWBORN

INCIDENCE: 1-5 per 1000 livebirths

PREDISPOSING FACTORSPrematurity

Male genderMaternal infectionDifficult deliveryCongenital anomalies


ROUTES OF ENTRY

Hematogenous spread

Ascending infection

Direct contact along birth canal

Breaks in the skin


CHANGING SPECTRUM OF PREDOMINANT PATHOGENS

EARLY ONSET SEPSIS1930’s Grp A Strep Others:E.coli,Staph

1940’s E.coli Others:Streptococci

1950’s S. aureus Others:E.coli/Pseudo

1960’s E.coli Others:Pseudo/Kleb

1970’s Grp B Strep Others:E.coli/ Listeria

1980’s Grp B Strepup to E.colipresent

LATE-ONSET SEPSIS1970’s S. aureus Others:Grp D Strep1980’s Coagulase(-) Others: G(-) enteric

Staph & Streptococciup to S. aureus Untypable

H.influenzaePresent

LATE LATE-ONSET SEPSIS1990’s Candida sp.

Coagulase (-)Staph

INFECTIONS OF THE NEWBORNEARLY-ONSET VS LATE-ONSET

VS LATE LATE-ONSETEARLY LATE LATE-

LATEOnset <4 days >4 days > 30 daysIncidence 0.1-0.4% 5-25% -Transmission vertical vertical/

postnatal env. postnatal env.

Clinical fulminant insiduous insiduous Sxs pneumonia meningitis

multisystem Morbidity neurologic prolonged prolonged handicap hospitalization

hospitalizationMortality 15-50% 10-15%


DIAGNOSIS OF SEPSIS

Clinical judgment Recovery of the organism from a

meaningful site: Blood culture UA vs UV specimens - The best alternative is

still blood culture from a peripheral vein Volume of blood – 0.5 ml should be

adequate. Larger specimens will often grow faster

Single vs multiple blood cultures- With early onset sepsis, a single culture would suffice. With late-onset sepsis esp with possible CONS, at least two cultures should be obtained.

INFECTIONS OF THE NEWBORNTREATMENT MODALITIES

AGAINST SEPSIS

METHODS GENERALLY USED: Early Detection Fluids, nutrition, antibiotics, ventilatory

support Catecholamines

AGENTS POSTULATED TO IMPROVE OUTCOME OF SEPSIS:

Antiserum to endotoxin Monoclonal antibodies to endotoxin

SPECIFIC INFECTIONS

MENINGITIS

PNEUMONIA

DIARRHEA/NEC

URINARY TRACT INFECTION

ARTHRITIS

CONJUNCTIVITIS

OTHER BACTERIAL INFECTIONS

TETANUS NEONATORUMHistory of unhygienic cord practicesClinical diagnosis characterized by TRISMUSPrevention with tetanus immunization of the

mother


CONGENITAL TUBERCULOSISGhons complex in the liverDiagnostics include:

AFB smear of gastric aspirateTuberculin testPlacental pathologic exam


CONGENITAL SYPHILISMay occur with other STDsCharacterized by jaundice, hepatosplenomegaly,

macular rashes with wet desquamating skin teeming with spirochetes

VDRL for screening. Confirmatory test FTA-ABS

NON-BACTERIAL INFECTIONS

TORCHS

TOXOPLASMOSIS

CONGENITAL RUBELLA

CYTOMEGALOVIRUS INFECTION

HERPES SIMPLEX INFECTION

NON-BACTERIAL INFECTIONS

OTHER VIRAL INFECTIONS:

MUMPS

HEPATITIS B

AIDS

TREATMENT OF INFECTION

SPECIFIC THERAPY:

AmpicillinGentamicin3rd generation Cephalosporin:

SUPPORTIVE THERAPY

Fluid resuscitation (crystalloids/colloids)InotropesNutritional supportImmunotherapy

TREATMENT OF INFECTION

SPECIFIC THERAPY:

TETANUS: Penicillin, TIG, AnticonvulsantTUBERCULOSIS: INH, Rifampicin, PZASYPHILIS: PenicillinTOXOPLASMOSIS: SpiramycinCYTOMEGALOVIRUS INFECTION:

GanciclovirHERPES SIMPLEX INFECTION/VARICELLA:

AcyclovirHIV: Zimovudine

JAUNDICE IN THE NEWBORNBILIRUBIN METABOLISM

biliverdinHemoglobin bilirubinHeme oxygenase

C0 Iron

biliverdinreductase

1 mole of Hgb = 1 mole each of C0 & bilirubin

Transport = bilirubin is transported to liver bound to serum albumin

Uptake = nonpolar bilirubin (dissociated from albumin) crosses the hepatocyte plasma membrane,binds to cytoplasmic ligandin (Y protein) fortransport to SER

Note: Phenobarbital increases concentration of ligandin

CONJUGATION

UCBSER

UDPG-T (Pb)

Bil. Monoglucuronide (CB)

Bil. Diglu-curonide

Bile canaliculi

EXCRETION

CB biliary tree

GIT

stool

B-glucuronidaseUCB(liver)

Enterohepatic circ.

BILIRUBIN METABOLISMBILIRUBIN METABOLISM

JAUNDICE

Color is due to accumulation in the skin of unconjugated, nonpolar, lipid-soluble bilirubin (indirect) formed from Hgb by heme oxygenase, biliverdin reductase, and nonenzymatic reducing agents in the RES

RISK FACTORS FOR HYPERBILIRUBINEMIA

History of previous sibling with hyperbilirubinemia

Decreasing gestational age Breastfeeding Large weight loss after birth

CAUSES OF HYPERBILIRUBINEMIA

Enhanced enterohepatic circulation due to: High levels of intestinal B-glucuronidase bilirubin monoglucuronide intestinal bacteria gut motility with poor evacuation of

meconium

CAUSES OF HYPERBILIRUBINEMIA

Defective uptake of bilirubin from plasma ligandinBinding of ligandin by other anions

Defective conjugation due to UDPG-T activity

Decreased hepatic excretion of bilirubin

PHYSIOLOGIC HYPERBILIRUBINEMIA

Onset of jaundice beyond 24 hours of age Rise in TSB less then 0.5 mg/dL/hour or

5mg/dl/day Peaks at 3-5 days Resolves in a week Levels not rising above 12mg/dl No associated illness

NONPHYSIOLOGIC HYPERBILIRUBINEMIA

Onset of jaundice before 24 hours of age Any elevation of TSB that requires

phototherapy Rise in TSB over 0.5 mg/dL/hour Signs of underlying illness eg. vomiting,

lethargy, poor feeding, excessive weight loss, apnea, tachypnea, To instability

Jaundice persisting after 8 days in FT, 14 days in PT

PATHOLOGIC CAUSES OF HYPERBILIRUBINEMIA

PRODUCTION

Isoimmunizatioin: Rh, ABO, minor blood grps

Erythrocyte biochem. Defect: G6PD, pyruvate kinase, hexokinase, porphyria

Structural abnormalities of RBCs: hereditary spherocytosis, eliptocytosis


PRODUCTION

Infection: bacterial, viral, protozoal (mixed jaundice)

Sequestered blood: subdural hematoma, cephalhematoma, ecchymoses, hemangiomas

Others: IDM, obstructive jaundice, galactosemia, hemolysis (DIC, vit K deficiency)

UPTAKE

Gilbert’s syndrome hypothyroidism galactosemia


CONJUGATION

Crigler-Najjar syndromes (types I, II) Transient familial neonatal

hyperbilirubinemia Galactosemia, hypothyroidism


EXCRETION

Idiopathic neonatal hepatitis Biliary atresia


ENTEROHEPATIC CIRCULATION

Breastmilk jaundice (early, late onset) Starvation Pyloric stenosis Intestinal obstruction


WORK-UP FOR JAUNDICE

Total serum bilirubin, B1, B2 Blood type, Rh, direct Coombs test of

the infant Blood type, Rh, antibody screen of the

mother Peripheral smear and reticulocyte count Hct

WORK-UP FOR JAUNDICE

If direct Coombs + - antibody on infant’s RBC

G6PD screen, congenital hypothyroidism, metabolic defects (urine metabolic screen)

For neonatal cholestasis: Liver function test, TORCH assay, UTZ, liver biopsy

TREATMENT OF HYPERBILIRUBINEMIA

Phototherapy Exchange Transfusion Phenobarbital ? Tin (Sn) protoporyhyrin or tin mesoporphyrin:

inhibits conversion of biliverdin to bilirubin by heme oxgenase Dose: single IM on D1 of life Complications:transient erythema

TREATMENT OF CHOLESTASIS

Ursodeoxycholic acid 10mg/k/day Kasai Procedure for biliary atresia

MANAGEMENT OF HYPERBILIRUBINEMIA IN THE HEALTHY TERM NEWBORN

AGE HOURS

CONSIDER PHOTOTHERAPY

PHOTOTHERAPY EXCHANGE TRANSFUSION, IF INTENSIVE

PHOTOTHERAPY FAILS

EXCHANGE TRANSFUSION &

INTENSIVE PHOTOTHERAPY

<24 … … … …

25-48

>12 >15 >20 >25

49-72

>15 >18 >25 >30

>72 >17 >20 >25 >30

Serum bilirubin = mg/dL

JAUNDICE IN PREMATURE INFANTS

WEIGHT IN GRAMS

PHOTOTHERAPY EXCHANGE TRANSFUSION

< 1000 gms.

Start within 24 hours

10-12 mg/dL

1000-1500 gm

7-9 mg/dL 12-15 mg/dL

2000-2500 gm

13-15 mg/dL 18-20 mg/dL

CLINICAL MANIFESTATIONS OF KERNICTERUS

Onset of symptoms: 2-5 d (FT), 7 d (PT) Early phase: lethargy, poor feeding, loss of

Moro reflex Second phase: prostration, dec. DTRs,

respiratory distress Late phase: opisthotonus, bulging fontanel.

Twitching of face & limbs, high-pitched cry Advanced cases: convulsions, spasm, stiff

extension of arms inward rotation with fists clenched

COMPLICATIONS OF KERNICTERUS

Cerebral palsy Mental retardation Seizure disorder Behavioral problem Dental dysplasia

RESPIRATORY DISTURBANCES

STRIDOR

Harsh sound produced by turbulent flow thru partially obstructed

Ass with upper airway obstruction


STRIDOR

CAUSES OF STRIDORChoanal atresiaLaryngomalaciaMacroglossiaSubglottic stenosisNeck masses


RESPIRATORY DISTRESS SYNDROME

Basic Pathology:Deficiency of pulmonary surfactant with

subsequent lung collapseImmaturity of the chest wall



Clinical Manifestations:Respiratory distressAnemiaHypotensionOliguriaHypotheramia



DIAGNOSIS:Chest radiograph

Ground-glass appearanceAir bronchogramLung opacity

Arterial blood gas



Treatment:Oxygen therapyCorrection of acidosisSurfactantAntibioticsTreatment of associated

condition/complication


TRANSIENT TACHYPNEA OF THE NB

Result of delayed absorption of fetal lung fluid seen during CS deliveries



Characterized by respiratory distress during the first two – three days of life



DIAGNOSIS:Chest radiograph

Effusion along fissure linesWet lung



TREATMENTOxygen therapy


APNEA

CAUSES OF APNEA:Central apnea: IVH, sedationObstructive apnea: RDS, pneumonia Mxed type: Sepsis, PDA


APNEA

TREATMENT OF APNEA:Treat underlying causePhysical stimulationPositive pressure ventilationAminophylline?


NEONATAL PNEUMONIA

MECONIUM ASPIRATION

CARDIOVASCULAR DISTURBANCESCONTROL OF THE HEART RATE

CARDIOVASCULAR DISTURBANCESCONGENITAL HEART DEFECTS

Incidence: About 8 of every 1,000 babies in the U.S. are born with a congenital heart defect


COMMON ACYANOTIC ABNORMALITIES:

Septal defect: Opening between right & left atrium or between right & left ventricle.


COMMON ACYANOTIC ABNORMALITIES:

Patent ductus arteriosus: Fetal blood vessel that usually closes soon after birth remains open with oxygen-rich blood returning from the lungs pumped to the lungs again, placing extra strain on the right ventricle and on the blood vessels leading to and from the lung.


COMMON CYANOTIC ABNORMALITIES:

Transposition of great arteries: exchange of role of the aorta and pulmonary artery



Coarctation of the aorta: a portion of the aorta is abnormally narrow and unable to carry sufficient blood to the body, placing extra strain on the left ventricle with high blood pressure in the upper body and rupture of blood vessel in the brain



Tetralogy of Fallot: a combination of four different heart malformations allows mixing of oxygenated and deoxygenated blood pumped by the heart.


Causes of Congenital Heart Defect:

Genetic factors,

Viral infections

Exposure to certain chemicals


Treatment: Surgical correction of the defect

Patch made from pericardium or synthetic fabric for septal defect

Ligation of ductus arteriosus

Snipping out narrowed portion of the aorta while sewing the normal ends togetherin coarctation of the aorta,

Corrective procedure for each part of the defect in Tetralogy of Fallot

Note: Success rates are well above 90 percent, with treated children living healthy, normal lives.

CARDIOVASCULAR DISTURBANCES

SHOCK

HYPERTENSION

RHYTHM DISTURBANCES

GASTROINTESTINAL DISTURBANCES

NECROTISING ENTEROCOLITIES

4 Is:

Ischemia Immaturity Infection Ingestion of milk


NECROTISING ENTEROCOLITIS

Clinical Manifestations:Non-specificResidual on feedingAbdominal distentionBlood-streaked stools


NECROTISING ENTEROCOLITIS

Diagnosis:Abd xray: Pneumatosis intestinalis

Fixed dilated loopsPortal vein gas

Liver UTZ: Hepatic microbubbles


NECROTISING ENTEROCOLITIES

Treatment:NPOTotal Parenteral NutritionGastric decompressionAntibioticsSurgical intervention, if indicated

HEMATOLOGIC DISTURBANCES

ANEMIA

CAUSES OF ANEMIAHemolysisAcute blood lossParenteral nutritional deficiency


ANEMIA

TREATMENT OF ANEMIAReplacement of blood loss

PRBC transfusion 10cc/kTreatment of underlying cause

Vitamin K of HDNVitamin E and Iron ErythropoietinSpecific factor repolacement for

hemophilia


POLYCYTHEMIA

CAUSES OF POLYCYTHEMIAPlacental dysfunction (SGA)Late cord clampingFeto-fetal/Maternofetal transfusionAdrenogenital syndromeIDM


POLYCYTHEMIA

CLINICAL SXS OF POLYCYTHEMIALethargy with poor suckCyanosis

COMPLICATIONSHyperbilirubinemiaVenous thrombosisPPHN


POLYCYTHEMIA

TREATMENT OF POLYCYTHEMIAPartial exchange transfusion

ENDOCRINE DISORDERS

INFANT OF DIABETIC MOTHER

May be asymptomaticSymptoms of hypoglycemia:

TremorsApneaLimpnessFeeding difficultyHigh-pitched cry

ENDOCRINE DISORDERS


Associated conditions:Hyaline membrane diseaseHypocalcemiaPolycythemiaHyperbilirubinemia

ENDOCRINE DISORDERS


Associated anomalies:Septal hypertrophyMicrocolon

ENDOCRINE DISORDERS


Treatment:2cc/k D10WaterIncrease GIRHydrocortisone

ENDOCRINE DISORDERS

CONGENITAL HYPOTHYROIDISM

Rarely obvious at birthFLK with large anterior fontanel,

low nasal bridge, large tongue, umbilical hernia, and constipation

May present as persistent jaundice

ENDOCRINE DISORDERS

CONGENITAL HYPOTHYROIDISM

Diagnosis:T4 and TSH

Treatment:levo-Thyroxine 5-10mg/k/d

ENDOCRINE DISORDERS

CONGENITAL ADRENAL HYPERPLASIA

Usually present with ambiguous genitalia

75% may go into adrenal crisis – salt-losing type due to 21-hydroxylase deficiency

ENDOCRINE DISORDERS

CONGENITAL ADRENAL HYPERPLASIA

Diagnosis:Serum cortisol, pregnaneloneUrinary 17ketosteroidsKaryotypingPelvic UTZ

Treatment:Hydrocortisone

diseases of the newborn belen amparo e. velasco, m.d

Documents

common site of fatal

grp d strep1980scoagulase

pseudokleb1970sgrp b

meaningful site

birth canalbreaks

aureus untypable h

breech deliveriescommonly

poor response