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Slide 1: DISEASE OF INFANCY & CHILDHOOD Bernadette R. Espiritu, M.D. FPSP. Anatomic & Clinical Pathologist
Slide 2: • Neonatal age – 1st 4 weeks • Infancy – 1st year • Early childhood – 1-4 years • Late Childhood – 5-14 years
Slide 3: • An unborn child or POC with child parts in the 1st 8 wks after conception EMBRYO
Slide 4: • unborn child / POC with child-parts not just placenta, 8 wks after conception to birth ("all-theway-out with a beating heart”) FETUS
Slide 5: • 1st 4 weeks of life birth • Most hazardous vulnerable period • Transition from IUlife • Circulation • Resp function take over • Maintenance of body temp NEONATE
Slide 6: • 1st year - after birth IN FA N T
Slide 7: • 1-4 y/o • 5-14 y/o
Slide 8: PRE-TERM • Born < 37-38 weeks • Vital organs are premature
Slide 9: POST-TERM • Prolonged pregnancy, Post-dates, Post-maturity • pregnancy that lasts > 42 weeks (294 days from the 1st day of LMP) • 7 % of all babies - born at 42 wks or later
Slide 10: POST-TERM RISK FOR MOTHERS • Longer labors & operative delivery (forceps or vacuum-assisted birth) • Vaginal trauma - large baby • C/S delivery • infection & wound complications & postpartum hge
Slide 11: RISKS OF FETUS & NB: POST-TERM • • • • • Placenta begins to age Amniotic fluid vol decrease Large baby Meconium aspiration Hypoglycemia
Slide 12: INFANT MORTALITY - per 1000 live births die before their 1st birthday • 10x more in the1st wk of life than in the 2nd wk • Born< 34th wk with Wt 1-1500 g : 50%M 90%m • Born > 34th wk with Wt of 1-1500 g: 13%M 86%m
Slide 13: CAUSES OF DEATHS 1ST 12 MONTHS: Immaturity RDS Birth trauma, Birth asphyxia Congenital anomalies Complications of Pregnancy Bacterial sepsis, Pneumonia, Meningitis CNS disease Accidents
Slide 14: 1st - 4th & 5th -14th y/o ØAccidents – leading cause of death Natural Diseases: Ø Congenital anomalies Ø Malignant neoplasm Ø Pneumonia
Slide 15: • Duration of Human pregnancy: 40 +/- 2 wks • Most NB wt = 3300 +/- 600 g • Prematurity – AOG < 37 wks from LMP • Low Birth wt - < 2500 g are classified as: AGA SGA
Slide 16: LOW BIRTH WEIGHT: “SGA" and "preterm". • Low birth weight <2500 gm • Very low birth weight <1500 gm • Extremely low birth wt <1000 gm
Slide 17: SGA: • not grow properly in the uterus • organs will have problems
Slide 18: • SGA CAUSES: 1) FETAL: - reduce growth despite adeq nutrient from mother a. chromosomal disorder b. congenital anomalies c. congenital infections
Slide 19: 2) PLACENTAL - 3rd trimester - Uteroplacental insufficiency a. infections b. tumors c. vascular lesions : infarctions
Slide 20: 3) MATERNAL - Under nutrition - Narcotic abuse - Alcohol intake - Cigarette smoking - Vascular disease: a. Toxemia b. Chronic c. Hypertension
Slide 21: IMMATURITY OF ORGANS LUNGS - 7th month – alveoli begin to differentiate - epithelial lining-cuboidal not suited in effecting transfer of O2 to blood
Slide 22: ...Lungs • 26th -32nd wks AOG – cuboidal epith > flat type I alveolar epithelial cells & type II cells that contain lamellar bodies
Slide 23: • TYPE I - flattened plate-like pavement covers 95% (membranous) of the alveolar surface • TYPE II : rounded or granular which exhibits surface microvilli & contains osmiophilic lamellar bodies
Slide 24: …Type II a. source of pulmonary surfactant b. involved in the repair of the alveolar epithelium after destruction of Type I cells
Slide 25: • PULMONARY SURFACTANT : “lecithin”phosphatidylcholine contained in a thin film of phospholipid in the glycoprotein–containing cell coat adjacent to the alveolar cell membrane
Slide 26: SURFACTANT: IMPORTANCE 1) lowers the surf tension of the alveolar lining & maintain the stability of the alveoli 2) synthesized in type II epithelial cells & stored in the osmiophilic lamellar bodies
Slide 27: 3) inadequate surfactant activity play a role in RDS of infants & adults
Slide 28: • IMMATURE LUNGS: - Unexpanded - red & meaty - alveolar spaces incompletely expanded - contain pink proteinaceous ppt & some squamous cells
Slide 29: • PRENATAL RESPIRATORY DISTRESS - large amount of amniotic debris, squames, lanugo hair & mucus
Slide 30: • Hyaline membrane dis - Dilatation of the alveolar spaces - Many air spaces- lined by thick hyaline membranes
Slide 31: • IMMATURE KIDNEY - formation of glomeruli: incomplete - primitive glomeruli : subcapsular zone - deeper glomeruli are well-formed - complete nephrogenesis 34th wk AOG
Slide 32: Kidneys of FTneonate (37 - 41 wks AOG): full set of nephrons: 850 - 1,200,000 / k
Slide 33: EVENTS: PREGNANCY 1. growth retardation 2. nephrotoxic drugs adm to mothers
Slide 34: BRAIN - Incomplete dev - Surface smooth - delineation of white & gray matter: ill-def - poorly dev myelination of nerve fiber
Slide 35: BRAIN Vital brain centrs sufficiently dev Homeostasis not perfect Poor vasomotor control Irreg resp Feeble sweating
Slide 36: LIVER Inc size persist EM hematopoiesis Def - bil glucoronyl transferase Def - hydroxylating enzymes Dec- CHON synthetic capacity
Slide 37: APGAR SCORE • METHOD: evaluating physiologic condition & responsiveness of NB > chance of survival • Evaluation at 1 min or at 5 min • 10 – best condition
Slide 38: …APGAR SCORE • 0-1 = 50% Mm in 1st mo. • 4 = 20% M in 1st mo. • 7 or > = 0% M in 1st mo.
Slide 39: APGAR SCORING SIGN 0 HR Resp effort Absent Absent < 100 1 > 100 2 Slow, Irregular Good, Crying Muscle Tone Limp Some flexion of extremities Active motion Response to catheter in nostril (tested after oropharynx is clear) No response Grimace Cough or sneeze Color Blue, pale Body pink, extremities blue Completely pink
Slide 40: BIRTH INJURIES • INTRACRANIAL HGE - most common - hge may arise from tears in the dura or rupture of vessels that traverse the brain - subs of the brain may be torn or bruised leading to intraventricular hge into the brain substance
Slide 41: EFFECTS OF INTRACRANIAL HGE • • • • Sudden increase in ICP Damage to the brain subs Herniation of medulla into the foramen magnum Serious fatal depression of function of vital medullary centers
Slide 42: CAPUT SUCCEDANEUM: • Edema of the scalp head pressedthe cervix • prolonged or difficult delivery • after ROM - amniotic sac no longer provides protective cushion for baby's head
Slide 43: • progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling • assc with PROM or oligohydramnios
Slide 44: SYMPTOMS … CAPUT • Soft puffy swelling of scalp • Swelling may or may not have discoloration • Swelling may extend over the midline of the scalp • Seen- head presented 1st • Assoc w/ inc molding-head
Slide 45: PROGNOSIS • Complete recovery expected • Scalp regain normal contour COMPLICATIONS • Jaundice - as the bruise breaks down into bilirubin
Slide 46: CEPHALHEMATOMA: Hge under the scalp ("subgaleal hematoma”) • No known risks • Dark red blood under galea aponeurotica over the cranium • fairly common during birth
Slide 47: • 25%Cephalhematoma Øunderlying skull fracture • CAUSES: Skull fractures ØPrecipitate delivery ØInapprop use of forceps ØProlonged labor with disproportion between the size of fetal head and birth canal
Slide 48: DEVELOPMETAL ANOMALIES
Slide 49: CONGENITAL MALFORMATIONS • Present at birth • 3%NBmajor malformation MALFORMATION – intrinsic abnormalities occurring during the developmental process
Slide 50: …Malformation • Single body system congenital heart defects anencephaly • Multiple body system
Slide 51: CAUSES: Malformation Ø chromosomal problems Ø genes of large effect Ø deletions of chunks of a chromosome polygenic problems Ø unknown
Slide 52: • DEFORMATION - arise later - represents an alteration in form/ structure resulting from a mechanical factor - abn in shape, form or position of body CAUSE: Uterine constraint 35th - 38th wk; fetus grows > the uterine w/ relative decr of amniotic fluid
Slide 53: …Deformation CAUSE: - Uterine constraint bet 35th - 38th wk - fetus grows > the uterus w/ relative dec of the amniotic fluid
Slide 54: • Deformation from constraint with oligohydramnios in utero(varus deformity) • The feet are turned inward CLUB FEET
Slide 55: • Maternal Factors: Ø Ø Ø Ø First pregnancy Small uterus Malformed (bicorn uterus) Leiomyomas • Fetal or Placental Factors: Ø Oligohydramnios Ø Multiple fetuses Ø Abn fetal presentation
Slide 56: • DISRUPTION - 3rd main error of morphogenesis - results from 2ndary destruction of interference with an organ or body region that was previously normal in development - not hereditary - caused by extrinsic or intrinsic factors: vascular insults - Ex: amniotic bands
Slide 57: Cause: extrinsic or intrinsic factors- vascular insults - Ex: amniotic bands
Slide 59: • SEQUENCE: pattern of cascade anom(unrelated) classic exam: POTTER OLIGOHYDRAMNIOS SEQUENCE squashed ("Potter's") face and badly bent limbs
Slide 60: CAUSES: Oligohydramnios 1. Chronic leakage of amn fluid bec of ROM 2. Uteroplacental insuff resulting fr maternal HPN or toxemia of pregnancy 3. Renal agenesis – fetal urine impt constituent of amniotic fluid
Slide 61: Oligo-H SEQUENCE • ANENCEPHALY aniridia / WT-1 complex “AGA“ • BRACHYDACTYLY (short fingers / toes) • BRONCHIECTASIS
Slide 62: ANENCEPHALY • Failure of formation of fetal cranial vault • Brain not form properly when exposed to amn fluid • IUFD-signs of maceration, w/ skin slippage & reddening
Slide 63: • absence of cranial vault - anencephaly
Slide 64: • EYESappear proptotic with anencephaly - the lack of the skull • EAR-low set
Slide 65: NEURAL TUBE DEFECT • CAUSE: improper embryonic neural tube closure • Most minimal defect: SPINA BIFIDA with failure of vertebral body to completely form, but the defect is not open
Slide 67: • Spina bifida - serious birth abn where the spinal cord is malformed & lacks its usual protective skeletal and soft tissue coverings • May appear in the body midline anywhere from the neck to the buttocks
Slide 68: • Most severe form- spinal rachischisis: entire spinal canal is open, exposing the spinal cord & nerves • More commonly, appears as localized mass - back covered by skin or by the meninges, the three-layered membrane that envelopes the spina cord
Slide 69: • Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abnormality
Slide 70: FORMS OF SPINA BIFIDA • • • • • • • • • meningomyelocele myelomeningocele spina bifida aperta open spina bifida myelodysplasia spinal dysraphism spinal rachischisis myelocele meningocele
Slide 71: MENINGOCOELE – the spine malform contains only protective covering (meninges) of spinal cord SPINA BIFIDA OCCULTA: one or more of the bony bodies in spine are incompletely hardened, but there is no abn of the spinal cord
Slide 72: CAUSES & SYMPTOMS Spina bifida • An isolated abn in the company of other Malform • As an isolated abn it is caused by the combination of : genetic factors environ influences
Slide 73: • The specific genes & environ influences not completely known • An insuff of Folic Acid • Mutations in genes involving metab of folic acid are believed to be signf genetic risk factors
Slide 74: 3-5%- Recurrence risk after the birth of infant with isolated spina bifida Specific environ insults : • Maternal DM • Prenatal exposure to certain anticonvulsant drugs
Slide 75: • 75% of abn -in the lower back (lumbar) region • Rarely- the spinal cord malform occur internally: with connection to the GIT
Slide 76: COMPLICATIONS: • Nerves BELOW the level of the abnorm dev in a faulty manner & fail to function= paralysis & loss of sensation: lumbar • bowel and bladder: have inadeq nerve connections=inability to control bowel and bladder function
Slide 77: HYDROCEPHALY • accum of excess fluid in the four cavities of the brain - At least 1: 7 cases dev • Chiari II malform- the lower part of the brain is crowded & forced into the upper part of the spinal cavity
Slide 78: PRENATAL DIAGNOSIS • UTZ after 12-14 wks AOG • Testing mother's blood – level of alphafetoprotein at 16 wks AOG - If the spine malform is not skin covered, AFP from the fetus' circ leak to the surrounding amn fluid small portion of which is absorbed in mother‘s bld
Slide 79: DIAGNOSIS : P.E. • Paralysis below the level of the abn + fluid on brain (hydrocephaly) • Spine abn: cong scoliosis & kyphosis or soft tissue tumors overlying the spine are NOT likely to have these accompanying findings
Slide 80: TREATMENT • Surgical & Medical mgt improved the survival & function of infants with spina bifida • Initial surgery – 1st days of life, provide protection against injury & infection
Slide 81: • Subseq surgery - necess to protect vs excessive curvature of the spine, & with hydrocephaly- place a mechanical shunt to decr the pressure & amt of CSF in the cavities of the brain
Slide 82: • Weakness or paralysis below the level of the spine abn - children will require PT bracing & ortho assist to enable them to walk • Periodic UB catheter, surgical diversion of urine, and antibiotics - used to protect urinary function
Slide 83: • INIENCEPHALY Slight variation of neural tube defect • Lack of proper formation of occ bones with short neck & defect of the upper cord • Head tilted back
Slide 84: • Fetus from a termination of pregnancy via D&C done in the 2nd trimester • Note the large neural tube defect in the lower back
Slide 85: • ENCEPHALOCELE protruding from the back of the head: merges with the scalp • extends down to partially cover • a RACHISCHISIS on the back • retroflexed head: fr INIENCEPHALY
Slide 86: EXENCEPHALY • Cranial vault -not completely present, but brain is present since it was not entirely exposed to amn fluid • Very rare • Part of craniofacial clefts ass with limb-body wall complex, from Early amnion disruption
Slide 87: RACHISCHISIS in a fetus that also has INIENCEPHALY
Slide 88: Open Neural Tube defects with no skin covering: • MENINGOCELE-meninges protrude through the defect • MENINGOMYELOCELE- the defect allows meninges and a portion of spinal cord to protrude through the defect • Diagnosis: Inc maternal serum alpha-fetoprotein (MSAFP)
Slide 89: • Spina Bifida: spinal cord • dev NORMALLY • but the meninges protrude • from a spinal opening • Saccular Herniation of meninges & CSF through a bony defect of the spine MENINGOCOELE
Slide 91: Meningomyelocoele
Slide 92: • FOLATE SUPPLEMENT prior to and during pregnancy reduces the incidence of neural tube defects
Slide 93: SYNDROME: • constellation of cong anom that are pathologically related • caused by a single etio agent that simultaneously affect different tissues - viral - chrom abn
Slide 94: • DISEASE: when the underlying cause of the condition becomes known
Slide 95: • AGENESIS – complete absence of an organ & its assoc primordium • APLASIA – absence due failure of developmental anlage to develop • HYPOPLASIA – incomp devt of an organ w/ decr number of cells
Slide 96: RENAL AGENESIS
Slide 98: ATRESIA: absence opening of hollow visceral COLONIC ATRESIA w/ add’nal anom: • Persist cloaca: failure of urogen septum to form R & L testis cryptorchid & absence of penis
Slide 99: • HYERPLASIA: overdevt of organ with increase in number of cells • HYPERTROPHY: increase in size • HYPOTROPHY: decrease in size • DYSPLASIA: abnormal organization of cells
Slide 100: CAUSES: MALFORMATION • GENETIC - Chromosomal aberration - Mendelian inheritance • ENVIRONMENTAL - Maternal/placental infections - Maternal disease states - Drugs & chemicals • MULTIFACTORIAL • UKNOWN
Slide 101: GENETIC CAUSES • "ROCKER BOTTOM" foot with a prominent calcaneus and rounded bottom • Chrom abn: TRISOMY 18
Slide 103: • 50% - occur with DOWN SYNDROME • UTZ - "double bubble" sign from duodenal enlargement proximal to the atresia Duodenal atresia
Slide 105: DOWN SYNDROME
Slide 106: MENDELIAN INHERITANCE • polydactyly extra fingers/toes • syndactyly fused fingers • 3rd & 4th fingers fused to 1 large digit; seen w/ triploidy (69 chromosomes)
Slide 108: ectrodactyly
Slide 109: ARTHROGRYPHOSIS ("joint claws") • congenital situation with muscle contractures present at birth • relatively common • non-progressive symptom that can result fr uterine constraint, CNS disease, or failure of certain muscles to develop
Slide 110: • Such a stiff fetus freq sustains fractures before or during delivery • NB w/ fractured rt humerus
Slide 112: HEMOLYTIC DISEASE OF THE NEWBORN
Slide 113: ERYTHROBLASTOSIS FETALIS • Ab from Rh (-) mother enter the blood stream of her unborn Rh (+) infant damaging the RBCs • Infant responds by inc RBC prod & sending out immature RBCs that still have nuclei
Slide 114: Normal RBCs, damaged RBCs, & immature RBCs that still contain nuclei
Slide 115: • Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus • An IU BT may be indicated
Slide 116: • The immune system recognizes Ag & produces Ab that destroy substances containing Ag
Slide 117: HYDROPS FETALIS hydrops, fetal hydrops, universal edema of the NB • 1st described by Ballantyne in 1892 • serious condition - abn fluid accum in 2 or > fetal compartments: ascites, pleural effusion, pericardial effusion & skin edema
Slide 118: • May be assoc with polyhydramnios & placental edema • Cause: Rhesus (Rh) blood group isoimmunization of the fetus
Slide 119: Epidemiology • 1 : 600 to 1 : 4Kpregnancies • Varies accdg to population risk of the condition known Ex: Thailand - expected freq hydrops fr homozygous αthalassemia or Bart hydrops is: 1 : 500–1:1,500pregnancies
Slide 120: ETIOLOGY Hematological causes • Iso-immunization hemolytic disease of NB • Erythroblastosis fetalis • Rhesus, Kell, ABO and Duffy incompatibility
Slide 121: Other HEMOLYTIC disorders: • Glucose-6-phosphatase Dehydrogenase Def(G6PD) • Glucose Phosphateisomerase (GPI) deficiency • Pyruvate kinase (PK) Def
Slide 122: ETIO: RBC PRODUCTION Disorders • • • • • Congenital dys-erythropoietic anemia Diamond-Blackfan syndrome Lethal hereditary spherocytosis Congenital erythropietic porphyria(Günther's disease α-thalassemia (Bart's hemoglobinopathy)
Slide 123: ETIO: Fetal HEMORRHAGE • • • • • intracranial or intraventricular hge hepatic laceration subcapsular hepatic laceration feto-maternal hemorrhage twin-to-twin transfusion
Slide 124: ETIO: CARDIAC causes • • • • • • Abnormalities of Lt Vent outflow Aortic valvular stenosis or atresia Coarctation of the aorta Truncus arteriosus Hypoplastic left heart Endocardial fibroelastosis
Slide 125: ETIO: Abn of Rt Vent outflow • Pulmonary Valvular Atresia or insufficiency • Ebstein's anomaly • AV-Malforamation ØHemangiomas
Slide 126: ETIO: NO structural anom • • • • • Sup vena cava or Inf vena cava occlusion Intrathoracic or abd masses Disorders of lymph drainage Arrhythmias Supravent tachycardia
Slide 127: …ETIO: • Congenital heart block - 66-75% in pregnancies complicated by maternal collagen disease • Prenatal closure of the foramen ovale or ductus arteriosus • Myocarditis • Idiopathic arterial calcification • Hypercalcemia
Slide 128: ETIO: INFECTIVE causes • Parvovirus B19-slapped cheek syndrome • PCR testing demonstrated that 20% fetal hydrops is assoc with: • CMV • SY • HERPES SIMPLEX
Slide 129: …INFECTIVE Causes • • • • • • Toxoplasmosis Hepatitis B Adenovirus Coxsackie virus type B Listeria monocytogenes Ureaplasma urealyticum
Slide 130: ETIO: • METABOLIC and other causes -inborn errors of metabolism • Glycogen-storage disease type IV • Lysosomal storage dis • Hypothyroidism • Hyperthyroidism
Slide 131: ETIO: CHROMOSOMAL SYNDROMES: • • • • Trisomies 10,13,15,18 Trisomy 21(Down's syndrome) Turner's syndrome (45, X) other autosomal recessive genetic disorders
Slide 132: • ETIO: • Tumours Sacrococcygeal Teratoma
Slide 133: PROGNOSIS Spontaneous remission: CAUSES: • • • • • Cardiac arrhythmias Twin-to-twin transfx syndrome Cystic hygroma Parvovirus & CMV infections Idiopathic ascites or pleural effusions
Slide 134: HYDROPS FETALIS
Slide 135: HYPOSPADIAS Urinary tract opening or urethral meatus opens the underside of the penis or on the perineum
Slide 136: ETIOLOGY • Abnormal Devt of penis • Various problems w/ male hormone action • Genetic
Slide 137: DIAGNOSIS: P.E. - urethral opening in a wrong position combined with other symptoms : • Foreskin incompletely dev resulting in a dorsal hood (tip of the penis exposed) • penis curvature (chordee) • undescended tested
Slide 138: Untreated HYPOSPADIAS • • • • Abn direction of urine flow Abn appearance of penis Infertility Inability of sexual intercourse
Slide 139: Treatment SURGERY - create a normal straight penis with a urinary channel - tip of the head
Slide 140: • If the opening is proximal, treatment with ♂ hormone TESTOSTERONE prior to surgery recommended • Hypospadias located within or near the scrotum should have a voiding cystogram to R/O add’l urinary tract anomalies
Slide 141: • Recommended age of surg repair: between 4-12 mo. - size of the penis - slow rate of growth of the penis • Children should not be circumcised: foreskin is essential in repair surgery
Slide 142: PROGNOSIS - Post repair the penis - functions normally - Very few children experience post-op complications: wound infections unexpected opening near the repair site
Slide 143: BLADDER EXTROPHY
Slide 144: GASTROSCHISIS
Slide 145: CLEFT LIP
Slide 146: DIAPHRAGMATIC HERNIA
Slide 147: CLUB FOOT
Slide 148: HYDROCEPHALUS • CSF collects in the cranium > vent to dilate At birth or early adulthood Causes: brain tumors, infection, trauma, or devt’l anom • •
Slide 149: PYLORIC STENOSIS
Slide 150: TRACHEO