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 DISEASE OF INFANCY & CHILDHOOD<br />Bernadette R. Espiritu, M.D. FPSP. <br />Anatomic & Clinical Pathologist<br />
Neonatal age – 1st 4 weeks<br />Infancy – 1st year<br />Early childhood – 1-4 years<br />Late Childhood – 5-14 years<br />
An unborn child or POC with child parts in the 1st  8 wks after conception<br />EMBRYO<br />
unborn child / POC with child-parts not just placenta, 8 wks after conception to birth (&quot;all-the-way-out with a beati...
1st 4 weeks of life   birth<br />Most hazardous<br />  vulnerable period<br />Transition from IUlife<br />Circulation <br ...
1st year - after birth<br />INFANT<br />
1-4 y/o<br />5-14 y/o<br />
PRE-TERM<br />Born &lt; 37-38 weeks<br />Vital organs are premature<br />
POST-TERM<br />Prolonged pregnancy, Post-dates, Post-maturity<br />pregnancy that lasts &gt; 42 weeks (294 days from the 1...
POST-TERM  RISK FOR MOTHERS<br />Longer labors & operative delivery (forceps or vacuum-assisted birth) <br />Vaginal traum...
RISKS OF FETUS & NB: POST-TERM  <br />Placenta begins to age<br />Amniotic fluid vol decrease<br />Large baby <br />Meconi...
INFANT MORTALITY<br /><ul><li>per 1000 live births die before their 1st birthday</li></ul>10x more in the1st  wk of life  ...
 CAUSES OF DEATHS<br />1ST 12 MONTHS:<br />Immaturity<br />RDS<br />Birth trauma, Birth asphyxia <br />Congenital anomalie...
1st - 4th  &  5th -14th  y/o<br /><ul><li>Accidents – leading </li></ul>           cause of death<br />  Natural Diseases:...
  Malignant neoplasm
  Pneumonia </li></li></ul><li>Duration of Human pregnancy: 40 +/- 2 wks<br />Most NB wt = 3300 +/- 600 g<br />Prematurity...
LOW BIRTH WEIGHT:  “SGA&quot; and &quot;preterm&quot;. <br /><ul><li>Low birth weight </li></ul>        &lt;2500 gm <br />...
SGA: <br />not grow properly in the uterus<br />organs will have <br />  problems <br />
SGA CAUSES:<br />1) FETAL:<br />     - reduce growth despite adeq nutrient from mother<br />        a. chromosomal disorde...
   2) PLACENTAL<br />     - 3rd trimester<br />     - Uteroplacental insufficiency<br />         a. infections<br />      ...
  3) MATERNAL<br />    - Under nutrition<br />    - Narcotic abuse<br />    - Alcohol intake<br />    - Cigarette smoking<...
IMMATURITY OF ORGANS<br />LUNGS<br /> - 7th month – alveoli begin  <br />   to differentiate<br /> - epithelial lining-cub...
...Lungs<br />26th -32nd wks AOG – cuboidal epith &gt; flat type I alveolar epithelial cells & type II cells that contain ...
TYPE I - flattened plate-like pavement covers 95% (membranous) of the alveolar surface<br />TYPE II : rounded or granular ...
…Type II<br /> a. source of pulmonary <br />     surfactant<br /> b. involved in the repair of <br />     the alveolar epi...
PULMONARY SURFACTANT : <br /> “lecithin”phosphatidylcholine contained in a thin film <br />  of phospholipid in the glycop...
SURFACTANT: IMPORTANCE<br />1) lowers the surf tension of the alveolar lining & maintain the stability of the alveoli<br /...
 3) inadequate surfactant activity play a role in RDS of infants & adults<br />
IMMATURE LUNGS:<br />   - Unexpanded<br />   - red & meaty<br />   - alveolar spaces incompletely expanded<br />   - conta...
PRENATAL RESPIRATORY DISTRESS<br />- large amount of amniotic debris, squames, lanugo hair & mucus<br />
Hyaline membrane dis- Dilatation of the alveolar <br />    spaces- Many air spaces- lined by  <br />    thick hyaline memb...
IMMATURE KIDNEY<br /><ul><li>formation of glomeruli: </li></ul>     incomplete<br /><ul><li>primitive glomeruli : </li></u...
Kidneys of FTneonate<br />    (37 - 41 wks AOG):<br />  full set of nephrons: <br />     850 - 1,200,000 / k <br />
EVENTS: PREGNANCY<br />    1. growth retardation <br />    2. nephrotoxic drugs <br />        adm to mothers<br />
BRAIN<br />- Incomplete dev<br />- Surface smooth<br />- delineation of white & gray matter: ill-def<br /><ul><li>poorly d...
BRAIN<br />Vital brain centrs    <br />   sufficiently dev<br /> Homeostasis   <br />   not perfect <br /> Poor  vasomotor...
  LIVER<br />Inc size<br />    persist EM hematopoiesis<br />  Def - bil glucoronyl transferase<br />  Def - hydroxylating...
APGAR SCORE<br />METHOD: evaluating physiologic condition & responsiveness of NB &gt; chance of survival<br />Evaluation a...
…APGAR SCORE<br />0-1 = 50% Mm in 1st mo. <br />4 = 20% M in 1st mo.<br />7 or &gt; = 0% M in 1st mo.<br />
APGAR SCORING<br />
BIRTH INJURIES<br />INTRACRANIAL HGE<br />    - most common<br />    - hge may arise from tears in the dura or rupture of ...
EFFECTS OF INTRACRANIAL HGE<br />Sudden increase in ICP<br />Damage to the brain subs<br />Herniation of medulla into the ...
CAPUT SUCCEDANEUM: <br />Edema of the scalp<br />  head pressed-<br />  the cervix<br />prolonged or <br />  difficult del...
progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling<b...
SYMPTOMS … CAPUT<br />Soft puffy swelling of scalp<br />Swelling may or may not have discoloration<br />Swelling may exten...
PROGNOSIS<br />Complete recovery expected<br />Scalp regain normal contour<br />COMPLICATIONS<br />Jaundice - as the bruis...
CEPHALHEMATOMA: <br />Hge under the scalp (&quot;subgaleal hematoma”)<br />No known risks<br />Dark red blood <br />  unde...
25%Cephalhematoma <br /><ul><li>underlying skull fracture</li></ul>CAUSES: Skull fractures<br /><ul><li>Precipitate delivery
Inapprop use of forceps
Prolonged labor with disproportion between the size of fetal head and birth canal</li></li></ul><li>DEVELOPMETAL ANOMALIES...
CONGENITAL MALFORMATIONS<br />Present at birth<br />3%NBmajor malformation<br />MALFORMATION – intrinsic abnormalities occ...
…Malformation<br />Single body system   <br />  congenital heart defects<br />  anencephaly<br />Multiple body system<br />
CAUSES: Malformation<br /><ul><li>chromosomal problems
   genes of large effect
   deletions of chunks of a </li></ul>      chromosome polygenic <br />      problems<br /><ul><li>   unknown</li></li></u...
…Deformation<br />CAUSE:<br /><ul><li>Uterine constraint  bet 35th - 38th wk </li></ul>  - fetus grows &gt; the uterus  w/...
Deformation from constraint with oligo-hydramnios<br />  in utero(varus deformity)<br />The feet are turned inward<br />CL...
Maternal Factors:<br /><ul><li>   First pregnancy
   Small uterus
   Malformed (bicorn uterus)
   Leiomyomas</li></ul>Fetal or Placental Factors:<br /><ul><li>   Oligohydramnios
   Multiple fetuses
Abn fetal presentation</li></li></ul><li>DISRUPTION<br />- 3rd main error of morphogenesis<br />  - results from 2ndary de...
Cause: extrinsic or intrinsic factors- vascular insults<br />    - Ex: amniotic bands<br />
SEQUENCE: pattern of cascade anom(unrelated)<br />  classic exam: POTTER  OLIGOHYDRAMNIOS SEQUENCE<br />squashed (&quot;Po...
CAUSES: Oligohydramnios<br />Chronic leakage of amn fluid bec of ROM<br />2. Uteroplacental insuff resulting fr maternal H...
Oligo-H SEQUENCE<br />ANENCEPHALY    aniridia / WT-1 complex    “AGA“      <br />BRACHYDACTYLY (short fingers / toes) <br ...
ANENCEPHALY<br />Failure of formation of fetal cranial vault <br />Brain not form properly when exposed to amn fluid <br /...
absence of cranial vault <br />- anencephaly<br />
EYESappear proptotic with anencephaly - the lack of <br />    the skull <br />EAR-low set<br />
NEURAL TUBE DEFECT<br />CAUSE: improper embryonic neural tube closure <br />Most minimal defect:      SPINA BIFIDA - with ...
SPINA BIFIDA<br />
Spina bifida - serious birth abn where the spinal cord is malformed & lacks its usual protective skeletal and soft tissue ...
Most severe form- spinalrachischisis: entire spinal canal is open, exposing the spinal cord & nerves<br />More commonly, a...
Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abno...
FORMS OF SPINA BIFIDA<br />meningomyelocele<br />myelomeningocele<br />   spina bifida aperta<br />   open spina bifida<br...
MENINGOCOELE – the spine malform contains only protective covering (meninges) of spinal cord <br />SPINA BIFIDA OCCULTA: o...
CAUSES & SYMPTOMS<br />Spina bifida<br />An isolated abn in the company of other Malform<br />As an isolated abn it is cau...
The specific genes & environ influences - not completely known <br />An insuff of Folic Acid<br />Mutations in genes invol...
3-5%- Recurrence risk after the birth of infant with isolated spina bifida<br />Specific environ insults :<br />   Materna...
75% of abn -in the lower back (lumbar) region <br />Rarely- the spinal cord malform occur internally: with connection to t...
COMPLICATIONS:<br />Nerves BELOW the level of the abnorm dev in a faulty manner & fail to function= paralysis & loss of se...
HYDROCEPHALY<br />accum of excess fluid in the four cavities of the brain <br />   - At least 1: 7 cases dev    <br />Chia...
PRENATALDIAGNOSIS<br />UTZ after 12-14 wks AOG<br />Testing mother&apos;s blood – level of alpha-fetoprotein at 16 wks AOG...
DIAGNOSIS: P.E.  <br />Paralysis below the level of the abn + fluid on brain (hydrocephaly)<br />Spine abn: cong<br />scol...
TREATMENT<br />Surgical & Medical mgt improved the survival & function of infants with spina bifida <br />Initial surgery ...
Subseq surgery - necess to protect vs excessive curvature of the spine, & with hydrocephaly- place a mechanical shunt to d...
Weakness or paralysis below the level of the spine abn - children will require PT bracing & ortho assist to enable them to...
INIENCEPHALYSlight variation of neural tube defect<br />Lack of proper formation of occ bones with short neck & defect of ...
Fetus from a termination of pregnancy via D&C done in the 2nd trimester <br />Note the large neural tube defect in the low...
ENCEPHALOCELE protruding from the back of the head: merges with the scalp<br />extends down to partially cover <br />a RAC...
EXENCEPHALY<br />Cranial vault -not completely present, but brain is present since it was not entirely exposed to amn flui...
RACHISCHISIS in a fetus that also has<br />INIENCEPHALY<br />
Open Neural Tube defects with no skin covering:<br />MENINGOCELE-meninges protrude through the defect <br />MENINGOMYELOCE...
MENINGOCOELE<br /><ul><li> Spina Bifida: spinal cord </li></ul>dev NORMALLY <br />  but the meninges protrude <br />from a...
Meningomyelocoele<br />
FOLATESUPPLEMENT prior to and during pregnancy reduces the incidence of neural tube defects<br />
SYNDROME:<br />  constellation of cong anom that are pathologically related<br />  caused by a single etio agent that simu...
DISEASE: <br />  when the underlying cause of the condition becomes known<br />
AGENESIS – complete absence of an organ & its assoc primordium<br />APLASIA – absence due failure of developmental anlage ...
RENAL  AGENESIS<br />
RENALHYDRO-GENOSUS<br />
ATRESIA: absence opening of hollow visceral organ<br />COLONIC ATRESIA  w/ add’nalanom: <br />Persist cloaca: failure of u...
HYERPLASIA: overdevt of organ with increase in number of cells<br />HYPERTROPHY: increase in size <br />HYPOTROPHY: decrea...
CAUSES: MALFORMATION<br />GENETIC<br />   - Chromosomal aberration<br />   - Mendelian inheritance<br />ENVIRONMENTAL<br /...
      GENETIC CAUSES<br />&quot;ROCKER BOTTOM&quot; foot with a prominent calcaneus and rounded bottom <br />Chromabn: TRI...
TRISOMY  18<br />
50% - occur with DOWN SYNDROME <br />UTZ - &quot;double bubble&quot; sign from duodenal enlargement proximal to the atresi...
DOWN SYNDROME<br />
MENDELIAN INHERITANCE<br />polydactyly<br />  extra fingers/toes <br />syndactyly<br />  fused fingers <br />3rd & 4th fin...
ectrodactyly<br />
ARTHROGRYPHOSIS(&quot;joint claws&quot;) <br />congenital situation with muscle contractures present at birth<br />relativ...
Such a stiff fetus freq sustains fractures before or during delivery<br />NB w/ fractured rthumerus<br />
HEMOLYTIC DISEASE OF THE NEWBORN<br />
ERYTHROBLASTOSIS FETALIS<br />Ab from Rh (-) mother enter the blood stream of her unborn Rh (+)  infant damaging the RBCs ...
Normal RBCs, damaged RBCs, & immature RBCs that still contain nuclei<br />
Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus <br />An IU BT may be indicated<br />
The immune system recognizes Ag & produces Ab that destroy substances containing Ag<br />
HYDROPS  FETALIS<br />hydrops, fetal hydrops, universal edema of the NB<br />1st  described by Ballantyne in 1892 <br />se...
May be assoc with polyhydramnios & placental edema<br />Cause: Rhesus (Rh) blood group iso-immunization of the fetus <br />
Epidemiology<br />1 : 600 to 1 : 4Kpregnancies<br />Varies accdg to population risk of the conditions known<br />  Ex: Tha...
ETIOLOGY<br />Hematological causes<br />Iso-immunization hemolytic disease of NB<br />Erythroblastosis fetalis<br />Rhesus...
Other HEMOLYTIC disorders: <br />Glucose-6-phosphatase Dehydrogenase Def(G6PD)<br />Glucose Phosphateisomerase (GPI) defic...
ETIO: <br />RBC PRODUCTION Disorders<br />Congenital dys-erythropoietic anemia<br />Diamond-Blackfan syndrome<br />Lethal ...
ETIO: Fetal HEMORRHAGE<br />intracranial or intraventricular hge<br />hepatic laceration<br />subcapsular hepatic lacerati...
ETIO: CARDIAC causes<br />Abnormalities of Lt Vent outflow<br />Aortic valvularstenosis or atresia<br />Coarctation of the...
ETIO: Abn of Rt Vent  <br />outflow<br />Pulmonary ValvularAtresia or insufficiency<br />Ebstein&apos;s anomaly <br />AV-M...
…ETIO:<br />Congenital heart block - 66-75% in pregnancies complicated by maternal collagen disease<br />Prenatal closure ...
ETIO: <br />INFECTIVE causes<br />Parvovirus B19-slapped  cheek syndrome<br />PCR testing demonstrated that 20% fetal <br ...
…INFECTIVE Causes<br />Toxoplasmosis<br />Hepatitis B<br />Adenovirus<br />Coxsackie virus type B<br />Listeriamonocytogen...
ETIO: <br />METABOLICand other causes<br />  -inborn errors of metabolism<br />Glycogen-storage disease <br />  type IV<br...
ETIO: CHROMOSOMAL SYNDROMES:<br />Trisomies 10,13,15,18<br />Trisomy 21(Down&apos;s syndrome)<br />Turner&apos;s syndrome ...
ETIO: <br />Tumours <br />  Sacrococcygeal Teratoma<br />
PROGNOSIS<br />Spontaneous remission: CAUSES: <br />Cardiac arrhythmias<br />Twin-to-twin transfx syndrome<br />Cystic hyg...
HYDROPS FETALIS<br />
HYPOSPADIAS<br />Urinary tract opening or urethral meatus opens the underside of the penis or on the perineum<br />
ETIOLOGY<br />Abnormal Devt of penis <br />Various problems w/ male hormone action<br /> Genetic<br />
DIAGNOSIS:  <br />P.E. - urethral opening in a wrong position combined with other symptoms :<br />Foreskin incompletely de...
Untreated HYPOSPADIAS<br />Abn direction of urine flow<br />Abn appearance of penis<br /> Infertility <br />Inability of s...
Treatment<br />SURGERY - create a normal straight penis with a urinary channel - tip of the head<br />
If the opening is proximal, treatment with ♂hormone TESTOSTERONE prior to surgery recommended<br />Hypospadias located wit...
Recommended age of surg repair:<br />between  4-12 mo.<br />   - size of the penis <br />   - slow rate of growth of <br /...
PROGNOSIS<br /><ul><li>Post repair the penis - functions normally
Very few children experience post-op complications:</li></ul>     wound infections  <br />     unexpected opening near the...
BLADDER EXTROPHY<br />
  GASTROSCHISIS<br />
CLEFT LIP<br />
DIAPHRAGMATIC HERNIA<br />
    CLUB FOOT<br />
            HYDROCEPHALUS<br /><ul><li>CSF collects in </li></ul>the cranium &gt; <br />vent to dilate <br /><ul><li>At bi...
PYLORIC STENOSIS<br />
TRACHEOESOPHAGEAL FISTULA<br />
TRISOMY 13<br />
TURNER SYNDROME<br />
PERINATAL INFECTION<br />
PRIMARY ROUTES:<br />Trans-cervically –  <br />   Ascending<br />    - Herpes Simplex II<br />    - inhalation of amniotic...
2. TRANSPLACENTALLY – Hematologic via the chorionic villi<br />PARASITIC<br />VIRAL<br />    HIV<br />    Parvovirus B19 –...
CONGENITAL SYPHILLIS<br />Early evidence: osteochondritisof femur & tibia<br />early evidence of infection: bullae and ves...
Later evidence saber shins<br />     later evidence <br />    saddle nose<br />Later evidence - Hutchinson&apos;s teeth   ...
PRIMARY SY<br />SECONDARY SY<br />   TERTIARY SY<br /> TERTIARY SY – <br />trophic<br />degeneration<br />
CONGENITAL SYPHILIS <br />granulomatous process : &quot;gumma“ <br />Gumma- located in the heart of a fetus <br />Syphilis...
Spirochetes  - T. pallidum, the causative agent<br />
                  RUBELLA<br />
CONGENITAL RUBELLA SYNDROME<br />Rubellacause: Togavirus genus Rubivirus<br />Child: Few/no symptoms<br />  Adults:1-5 day...
1st  trim- CRS can cause<br />Abortions<br />Miscarriages<br />Stillbirths<br />Severe birth defects<br />
The most common CRS Congenital defects are:     <br />Cataracts<br />Heart disease<br />Sensorineural deafness<br />Mental...
  HERPES  VIRUS<br />HSV-type 1:<br />    oral herpes<br />    fever<br />    blisters: mouth/ face<br />HSV-type2:<br /> ...
Both viral types can:<br />Inactive/&apos;silent‘: no symptom<br />cause &apos;outbreaks&apos; of blisters and ulcers <br ...
TRANSMISSION:  Direct contact<br /><ul><li>  Sexual contact
  Anal / Oral / Vaginal sex
  Kissing
  Skin-to-skin contact</li></li></ul><li>GENITAL HERPES<br />transmitted with or without sores or other symptoms<br />tran...
HSV-2  <br />Mild to no symptoms<br />Recurrent painful genital ulcers <br />Severe with suppressed immune systems <br />
Severe genital herpes - psychological & emotional  stress<br />Pregnants-  fatal infections in infants<br />C/S delivery -...
EARLY SYMPTOMS :<br /><ul><li> burning sensation in the genitals
 flu-like symptoms
 lower back pain
 painful urination</li></li></ul><li>Small red bumps – in genital area after initial symptoms &gt; painful blisters: crust...
CYTOMEGALOVIRUS<br />Cause: DNA, ether sensitive virus of the herpes family<br />Occurs worldwide <br />Transmission: HUMA...
CMV – pregnancy hazardous to the fetus:<br /> brain damage<br /> neonatal illness<br /> other birth defects<br /> stillbir...
RISK GROUPS :<br />Immunodeficient patients <br />AIDS patients <br />Who received transplanted organs<br />those receivin...
CMV - spread through the body in lymphocytes or monos to the lungs, liver, and CNS where it produces inflammatory reaction...
CYTOMEGALOVIRUS<br />
“owl-eye”<br />
Tubular epithelium of fetal kidney - many large violet INCs<br />Inclusions may appear in the urine<br />
NEONATAL RESPIRATORY DISTRESS SYNDROME<br />Cause:  inadeq prod surfactant<br />Surfactant - prod by type II pneumocytes w...
Inadeqsurfactant - causes air sacs to collapse on expiration & greatly increasethe  energy req for breathing <br />Interst...
The immature lungs: cannot retain air<br />the air spaces empty completely and collapse after the 1st exhalation <br />Pla...
RISK FACTORS<br />Premature delivery<br />C/S without maternal labor<br />Male infants<br />Hypothermia<br />Perinatal asp...
PRESENTATION<br />preterm delivery - with RD: <br />tachypnea & expiratory grunting<br />subcostal and intercostal retract...
SUDDEN INFANT DEATH SYNDROME<br />SIDS is the unexpected, sudden death of a child under age 1 in which an autopsy does not...
Causes<br />Unknown<br />Problems w/ sleep arousal <br />Inability to sense a build-up of CO2 in the blood <br />
occur w/o any warning or symptoms when the infant sleeping<br />SIDS is most likely to occur betwn 2 - 4 mos & 90% occur b...
Factors:   risk of SIDS<br />Babies who sleep on their stomachs <br />Babies who are around cigarette smoke while in the w...
Babies who sleep in the same bed as their parents <br />Babies who have soft bedding in the crib <br />Multiple birth babi...
Babies who have a brother or sister who had SIDS <br />Mothers who smoke or use illegal drugs <br />Teen mothers <br />Sho...
Symptoms<br />no symptoms<br />Babies who die of SIDS do not appear to suffer or <br />  struggle<br />Exams and Tests<br ...
NEOPLASM<br />
HEMANGIOMA<br />
Beneath the skin surface are many dilated vascular channels filled with many red blood cells<br />
LYMPHANGIOMA<br />There is a large mass involving the left upper arm and left chest of this fetus. <br />
Large lymphatic spaces lined by a thin endothelium <br />Adjacent stroma w/ lymphoid nodules<br />Tend to involve head, ne...
Enlarged lymphatic spaces lined by a thin endothelium – HPO<br />Poorly circumscribed & extend widely to surrounding soft ...
FIBROMATOSIS<br />Fibromatoses:<br />  Rare soft tissue disease characterized by fibroblastic proliferation<br />
CLASSIFICATION<br />Fibroblastic fibromatoses<br />DesmoidFibromatosis<br />  (desmoid tumor, aggressive fibromatosis)<br ...
….Classification<br />Digital infantile fibromatosis<br />Aponeuroticfibromatosis<br /><ul><li>plantar fibromatosis
palmarfibromatosis
penile fibromatosis</li></li></ul><li>…Classification:<br />Hereditary gingival fibromatosis (idiopathic gingival fibromat...
….. Classification:<br />Myofibroblastic fibromatoses(myofibromatoses) <br />Infantile myofibromatosis<br />  (infantile m...
According to the LOCALIZATION<br /> <br />Superficial <br />Deep<br />
A 45 days old female infant was brought to the hospital with swelling in the right thigh<br />Noticed swelling - 11 days o...
LNs in drainage area - not palpable, Distal neuro-vascular status - N° x-ray  11 days old did not show any abnormality<br />
On the 45th day of life, - a<br />circumferential overgrowth of <br />radio opaque tissue which <br />covered the normal b...
TERATOMA<br />Large nasopharyngeal teratoma that is protruding from the oral cavity<br />
Benign<br />3 embryologic germ layers : <br />Skin (ECTODERM) <br />       Cartilage (MESODERM)<br />       Colonic gland ...
CYSTIC FIBROSIS : PANCREAS<br />Ducts - dilated &plugged w/ eosinophilic mucus<br />Acini of exocrine glands - atrophic & ...
MALIGNANT  TUMORS<br />
WILM’S TUMOR<br />
<ul><li>Lobulated tan-white mass
Manifests as an abdmass
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Diseases Of Infancy & Childhood

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  1. 1. DISEASE OF INFANCY & CHILDHOOD<br />Bernadette R. Espiritu, M.D. FPSP. <br />Anatomic & Clinical Pathologist<br />
  2. 2. Neonatal age – 1st 4 weeks<br />Infancy – 1st year<br />Early childhood – 1-4 years<br />Late Childhood – 5-14 years<br />
  3. 3. An unborn child or POC with child parts in the 1st 8 wks after conception<br />EMBRYO<br />
  4. 4. unborn child / POC with child-parts not just placenta, 8 wks after conception to birth (&quot;all-the-way-out with a beating heart”) <br />FETUS<br />
  5. 5. 1st 4 weeks of life birth<br />Most hazardous<br /> vulnerable period<br />Transition from IUlife<br />Circulation <br />Resp function take over<br />Maintenance of body temp<br />NEONATE<br />
  6. 6. 1st year - after birth<br />INFANT<br />
  7. 7. 1-4 y/o<br />5-14 y/o<br />
  8. 8. PRE-TERM<br />Born &lt; 37-38 weeks<br />Vital organs are premature<br />
  9. 9. POST-TERM<br />Prolonged pregnancy, Post-dates, Post-maturity<br />pregnancy that lasts &gt; 42 weeks (294 days from the 1st day of LMP)<br />7 % of all babies - born at 42 wks or later <br />
  10. 10. POST-TERM RISK FOR MOTHERS<br />Longer labors & operative delivery (forceps or vacuum-assisted birth) <br />Vaginal trauma - large baby<br />C/S delivery<br />infection & wound complications & postpartum hge<br />
  11. 11. RISKS OF FETUS & NB: POST-TERM <br />Placenta begins to age<br />Amniotic fluid vol decrease<br />Large baby <br />Meconium aspiration<br />Hypoglycemia<br />
  12. 12. INFANT MORTALITY<br /><ul><li>per 1000 live births die before their 1st birthday</li></ul>10x more in the1st wk of life than in the 2nd wk<br />Born&lt; 34thwk with Wt 1-1500 g : 50%M <br />90%m<br />Born &gt; 34th wk with Wt of 1-1500 g: 13%M <br />86%m <br />
  13. 13. CAUSES OF DEATHS<br />1ST 12 MONTHS:<br />Immaturity<br />RDS<br />Birth trauma, Birth asphyxia <br />Congenital anomalies <br />Complications of Pregnancy<br />Bacterial sepsis, Pneumonia, <br />Meningitis<br />CNS disease<br />Accidents<br />
  14. 14. 1st - 4th & 5th -14th y/o<br /><ul><li>Accidents – leading </li></ul> cause of death<br /> Natural Diseases:<br /><ul><li> Congenital anomalies
  15. 15. Malignant neoplasm
  16. 16. Pneumonia </li></li></ul><li>Duration of Human pregnancy: 40 +/- 2 wks<br />Most NB wt = 3300 +/- 600 g<br />Prematurity – AOG &lt; 37 wks from LMP<br />Low Birth wt - &lt; 2500 g are classified as:<br /> AGA<br /> SGA<br />
  17. 17. LOW BIRTH WEIGHT: “SGA&quot; and &quot;preterm&quot;. <br /><ul><li>Low birth weight </li></ul> &lt;2500 gm <br /><ul><li>Very low birth weight </li></ul> &lt;1500 gm<br /><ul><li>Extremely low birth wt </li></ul> &lt;1000 gm<br />
  18. 18. SGA: <br />not grow properly in the uterus<br />organs will have <br /> problems <br />
  19. 19. SGA CAUSES:<br />1) FETAL:<br /> - reduce growth despite adeq nutrient from mother<br /> a. chromosomal disorder<br /> b. congenital anomalies<br /> c. congenital infections<br />
  20. 20. 2) PLACENTAL<br /> - 3rd trimester<br /> - Uteroplacental insufficiency<br /> a. infections<br /> b. tumors<br /> c. vascular lesions : <br /> infarctions <br />
  21. 21. 3) MATERNAL<br /> - Under nutrition<br /> - Narcotic abuse<br /> - Alcohol intake<br /> - Cigarette smoking<br /> - Vascular disease:<br /> a. Toxemia<br /> b. Chronic <br /> c. Hypertension<br />
  22. 22. IMMATURITY OF ORGANS<br />LUNGS<br /> - 7th month – alveoli begin <br /> to differentiate<br /> - epithelial lining-cuboidal <br /> not suited in effecting <br /> transfer of O2 to blood<br />
  23. 23. ...Lungs<br />26th -32nd wks AOG – cuboidal epith &gt; flat type I alveolar epithelial cells & type II cells that contain lamellar bodies<br />
  24. 24. TYPE I - flattened plate-like pavement covers 95% (membranous) of the alveolar surface<br />TYPE II : rounded or granular which exhibits surface microvilli & contains osmiophilic lamellar bodies<br />
  25. 25. …Type II<br /> a. source of pulmonary <br /> surfactant<br /> b. involved in the repair of <br /> the alveolar epithelium <br /> after destruction of <br /> Type I cells<br />
  26. 26. PULMONARY SURFACTANT : <br /> “lecithin”phosphatidylcholine contained in a thin film <br /> of phospholipid in the glycoprotein–containing <br /> cell coat adjacent to the alveolar cell membrane<br />
  27. 27. SURFACTANT: IMPORTANCE<br />1) lowers the surf tension of the alveolar lining & maintain the stability of the alveoli<br />2) synthesized in type II epithelial cells & stored in the osmiophilic lamellar <br /> bodies<br />
  28. 28. 3) inadequate surfactant activity play a role in RDS of infants & adults<br />
  29. 29. IMMATURE LUNGS:<br /> - Unexpanded<br /> - red & meaty<br /> - alveolar spaces incompletely expanded<br /> - contain pink proteinaceous ppt & some squamous cells<br />
  30. 30. PRENATAL RESPIRATORY DISTRESS<br />- large amount of amniotic debris, squames, lanugo hair & mucus<br />
  31. 31. Hyaline membrane dis- Dilatation of the alveolar <br /> spaces- Many air spaces- lined by <br /> thick hyaline membranes <br />
  32. 32. IMMATURE KIDNEY<br /><ul><li>formation of glomeruli: </li></ul> incomplete<br /><ul><li>primitive glomeruli : </li></ul> subcapsular zone<br /><ul><li>deeper glomeruli are </li></ul> well-formed<br /><ul><li>complete nephrogenesis </li></ul> 34th wk AOG<br />
  33. 33. Kidneys of FTneonate<br /> (37 - 41 wks AOG):<br /> full set of nephrons: <br /> 850 - 1,200,000 / k <br />
  34. 34. EVENTS: PREGNANCY<br /> 1. growth retardation <br /> 2. nephrotoxic drugs <br /> adm to mothers<br />
  35. 35. BRAIN<br />- Incomplete dev<br />- Surface smooth<br />- delineation of white & gray matter: ill-def<br /><ul><li>poorly dev myelination </li></ul> of nerve fiber<br />
  36. 36. BRAIN<br />Vital brain centrs <br /> sufficiently dev<br /> Homeostasis <br /> not perfect <br /> Poor vasomotor <br /> control <br /> Irreg resp<br /> Feeble sweating<br />
  37. 37. LIVER<br />Inc size<br /> persist EM hematopoiesis<br /> Def - bil glucoronyl transferase<br /> Def - hydroxylating enzymes Dec- CHON synthetic capacity<br />
  38. 38. APGAR SCORE<br />METHOD: evaluating physiologic condition & responsiveness of NB &gt; chance of survival<br />Evaluation at 1 min or at <br /> 5 min<br />10 – best condition<br />
  39. 39. …APGAR SCORE<br />0-1 = 50% Mm in 1st mo. <br />4 = 20% M in 1st mo.<br />7 or &gt; = 0% M in 1st mo.<br />
  40. 40. APGAR SCORING<br />
  41. 41. BIRTH INJURIES<br />INTRACRANIAL HGE<br /> - most common<br /> - hge may arise from tears in the dura or rupture of vessels that traverse the brain<br /> - subs of the brain may be torn or bruised leading to intraventricular hge into the brain substance<br />
  42. 42. EFFECTS OF INTRACRANIAL HGE<br />Sudden increase in ICP<br />Damage to the brain subs<br />Herniation of medulla into the foramen magnum<br />Serious fatal depression of function of vital medullary centers<br />
  43. 43. CAPUT SUCCEDANEUM: <br />Edema of the scalp<br /> head pressed-<br /> the cervix<br />prolonged or <br /> difficult delivery <br />after ROM<br /> - amniotic sac no longer <br /> provides protective <br /> cushion for baby&apos;s head<br />
  44. 44. progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling<br />assc with PROM <br /> or<br /> oligohydramnios <br />
  45. 45. SYMPTOMS … CAPUT<br />Soft puffy swelling of scalp<br />Swelling may or may not have discoloration<br />Swelling may extend over the midline of the scalp <br />Seen- head presented 1st<br />Assoc w/ inc molding-head<br />
  46. 46. PROGNOSIS<br />Complete recovery expected<br />Scalp regain normal contour<br />COMPLICATIONS<br />Jaundice - as the bruise breaks down into bilirubin<br />
  47. 47. CEPHALHEMATOMA: <br />Hge under the scalp (&quot;subgaleal hematoma”)<br />No known risks<br />Dark red blood <br /> under galea <br /> aponeurotica over the <br />cranium <br />fairly common <br /> during birth<br />
  48. 48. 25%Cephalhematoma <br /><ul><li>underlying skull fracture</li></ul>CAUSES: Skull fractures<br /><ul><li>Precipitate delivery
  49. 49. Inapprop use of forceps
  50. 50. Prolonged labor with disproportion between the size of fetal head and birth canal</li></li></ul><li>DEVELOPMETAL ANOMALIES<br />
  51. 51. CONGENITAL MALFORMATIONS<br />Present at birth<br />3%NBmajor malformation<br />MALFORMATION – intrinsic abnormalities occurring during the developmental process<br />
  52. 52. …Malformation<br />Single body system <br /> congenital heart defects<br /> anencephaly<br />Multiple body system<br />
  53. 53. CAUSES: Malformation<br /><ul><li>chromosomal problems
  54. 54. genes of large effect
  55. 55. deletions of chunks of a </li></ul> chromosome polygenic <br /> problems<br /><ul><li> unknown</li></li></ul><li>DEFORMATION<br /> - arise later <br /> - represents an alteration in form/ structure resulting from a mechanical factor<br /> - abn in shape, form or <br /> position of body<br /> CAUSE: Uterine constraint <br /> 35th - 38th wk; fetus grows &gt; the uterine w/ relative decr of amniotic fluid<br />
  56. 56. …Deformation<br />CAUSE:<br /><ul><li>Uterine constraint bet 35th - 38th wk </li></ul> - fetus grows &gt; the uterus w/ relative dec of the amniotic fluid<br />
  57. 57. Deformation from constraint with oligo-hydramnios<br /> in utero(varus deformity)<br />The feet are turned inward<br />CLUB FEET<br />
  58. 58. Maternal Factors:<br /><ul><li> First pregnancy
  59. 59. Small uterus
  60. 60. Malformed (bicorn uterus)
  61. 61. Leiomyomas</li></ul>Fetal or Placental Factors:<br /><ul><li> Oligohydramnios
  62. 62. Multiple fetuses
  63. 63. Abn fetal presentation</li></li></ul><li>DISRUPTION<br />- 3rd main error of morphogenesis<br /> - results from 2ndary destruction of interference with an organ or body region that was previously normal in development<br /> - not hereditary<br /> - caused by extrinsic or intrinsic factors: vascular insults - Ex: amniotic bands<br />
  64. 64. Cause: extrinsic or intrinsic factors- vascular insults<br /> - Ex: amniotic bands<br />
  65. 65.
  66. 66. SEQUENCE: pattern of cascade anom(unrelated)<br /> classic exam: POTTER OLIGOHYDRAMNIOS SEQUENCE<br />squashed (&quot;Potter&apos;s&quot;) face and badly bent limbs<br />
  67. 67. CAUSES: Oligohydramnios<br />Chronic leakage of amn fluid bec of ROM<br />2. Uteroplacental insuff resulting fr maternal HPN or toxemia of pregnancy<br />3. Renal agenesis – fetal urine impt constituent of amniotic fluid<br />
  68. 68. Oligo-H SEQUENCE<br />ANENCEPHALY aniridia / WT-1 complex “AGA“ <br />BRACHYDACTYLY (short fingers / toes) <br />BRONCHIECTASIS<br />
  69. 69. ANENCEPHALY<br />Failure of formation of fetal cranial vault <br />Brain not form properly when exposed to amn fluid <br />IUFD-signs of maceration, w/ skin slippage & reddening<br />
  70. 70. absence of cranial vault <br />- anencephaly<br />
  71. 71. EYESappear proptotic with anencephaly - the lack of <br /> the skull <br />EAR-low set<br />
  72. 72. NEURAL TUBE DEFECT<br />CAUSE: improper embryonic neural tube closure <br />Most minimal defect: SPINA BIFIDA - with failure of vertebral body to completely form, but the defect is not open<br />
  73. 73. SPINA BIFIDA<br />
  74. 74. Spina bifida - serious birth abn where the spinal cord is malformed & lacks its usual protective skeletal and soft tissue coverings<br />May appear in the body midline anywhere from the neck to the buttocks <br />
  75. 75. Most severe form- spinalrachischisis: entire spinal canal is open, exposing the spinal cord & nerves<br />More commonly, appears as localized mass - back covered by skin or by the meninges, the three-layered membrane that envelopes the spina cord <br />
  76. 76. Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abnormality<br />
  77. 77. FORMS OF SPINA BIFIDA<br />meningomyelocele<br />myelomeningocele<br /> spina bifida aperta<br /> open spina bifida<br />myelodysplasia<br /> spinal dysraphism<br /> spinal rachischisis<br />myelocele<br />meningocele<br />
  78. 78. MENINGOCOELE – the spine malform contains only protective covering (meninges) of spinal cord <br />SPINA BIFIDA OCCULTA: one or more of the bony bodies in spine are incompletely hardened, but there is no abn of the spinal cord<br />
  79. 79. CAUSES & SYMPTOMS<br />Spina bifida<br />An isolated abn in the company of other Malform<br />As an isolated abn it is caused by the combination of : genetic factors <br /> environ influences<br />
  80. 80. The specific genes & environ influences - not completely known <br />An insuff of Folic Acid<br />Mutations in genes involving metab of folic acid are believed to be signf genetic risk factors <br />
  81. 81. 3-5%- Recurrence risk after the birth of infant with isolated spina bifida<br />Specific environ insults :<br /> Maternal DM<br /> Prenatal exposure to certain anti-<br />convulsant drugs<br />
  82. 82. 75% of abn -in the lower back (lumbar) region <br />Rarely- the spinal cord malform occur internally: with connection to the GIT<br />
  83. 83. COMPLICATIONS:<br />Nerves BELOW the level of the abnorm dev in a faulty manner & fail to function= paralysis & loss of sensation: lumbar <br />bowel and bladder: <br /> have inadeq nerve connections=inability to <br /> control bowel and bladder function <br />
  84. 84. HYDROCEPHALY<br />accum of excess fluid in the four cavities of the brain <br /> - At least 1: 7 cases dev <br />ChiariII malform- the lower part of the brain is crowded & forced into the upper part of the spinal cavity<br />
  85. 85. PRENATALDIAGNOSIS<br />UTZ after 12-14 wks AOG<br />Testing mother&apos;s blood – level of alpha-fetoprotein at 16 wks AOG<br /> - If the spine malform is not skin covered, AFP from the fetus&apos; circ leak to the surrounding amn fluid small portion of which is absorbed in mother‘s bld<br />
  86. 86. DIAGNOSIS: P.E. <br />Paralysis below the level of the abn + fluid on brain (hydrocephaly)<br />Spine abn: cong<br />scoliosis & kyphosis or soft tissue tumors overlying the spine are NOT likely to have these accompanying findings<br />
  87. 87. TREATMENT<br />Surgical & Medical mgt improved the survival & function of infants with spina bifida <br />Initial surgery – 1st days of life, provide protection against injury & infection <br />
  88. 88. 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 <br />
  89. 89. Weakness or paralysis below the level of the spine abn - children will require PT bracing & ortho assist to enable them to walk <br />Periodic UB catheter, surgical diversion of urine, and antibiotics - used to protect urinary function<br />
  90. 90. INIENCEPHALYSlight variation of neural tube defect<br />Lack of proper formation of occ bones with short neck & defect of the upper cord <br />Head tilted back<br />
  91. 91. Fetus from a termination of pregnancy via D&C done in the 2nd trimester <br />Note the large neural tube defect in the lower back<br />
  92. 92. ENCEPHALOCELE protruding from the back of the head: merges with the scalp<br />extends down to partially cover <br />a RACHISCHISIS on the back <br />retroflexed head: fr INIENCEPHALY<br />
  93. 93. EXENCEPHALY<br />Cranial vault -not completely present, but brain is present since it was not entirely exposed to amn fluid<br />Very rare <br />Part of craniofacial clefts ass with limb-body wall complex, from Early amnion disruption<br />
  94. 94. RACHISCHISIS in a fetus that also has<br />INIENCEPHALY<br />
  95. 95. Open Neural Tube defects with no skin covering:<br />MENINGOCELE-meninges protrude through the defect <br />MENINGOMYELOCELE- the defect allows meninges and a portion of spinal cord to protrude through the defect <br />Diagnosis: Inc maternal serum alpha-fetoprotein (MSAFP)<br />
  96. 96. MENINGOCOELE<br /><ul><li> Spina Bifida: spinal cord </li></ul>dev NORMALLY <br /> but the meninges protrude <br />from a spinal opening<br /><ul><li> Saccular Herniation of meninges & CSF through a bony defect of the spine</li></li></ul><li>
  97. 97. Meningomyelocoele<br />
  98. 98. FOLATESUPPLEMENT prior to and during pregnancy reduces the incidence of neural tube defects<br />
  99. 99. SYNDROME:<br /> constellation of cong anom that are pathologically related<br /> caused by a single etio agent that simultaneously affect different tissues<br /> - viral<br /> - chromabn<br />
  100. 100. DISEASE: <br /> when the underlying cause of the condition becomes known<br />
  101. 101. AGENESIS – complete absence of an organ & its assoc primordium<br />APLASIA – absence due failure of developmental anlage to develop<br />HYPOPLASIA – incompdevt of an organ w/ decr number of cells<br />
  102. 102. RENAL AGENESIS<br />
  103. 103. RENALHYDRO-GENOSUS<br />
  104. 104. ATRESIA: absence opening of hollow visceral organ<br />COLONIC ATRESIA w/ add’nalanom: <br />Persist cloaca: failure of urogenseptum to form<br /> R & L testis cryptorchid & absence of penis <br />
  105. 105. HYERPLASIA: overdevt of organ with increase in number of cells<br />HYPERTROPHY: increase in size <br />HYPOTROPHY: decrease in size<br />DYSPLASIA: abnormal organization of cells<br />
  106. 106. CAUSES: MALFORMATION<br />GENETIC<br /> - Chromosomal aberration<br /> - Mendelian inheritance<br />ENVIRONMENTAL<br /> - Maternal/placental infections<br /> - Maternal disease states<br /> - Drugs & chemicals<br />MULTIFACTORIAL<br />UKNOWN<br />
  107. 107. GENETIC CAUSES<br />&quot;ROCKER BOTTOM&quot; foot with a prominent calcaneus and rounded bottom <br />Chromabn: TRISOMY 18<br />
  108. 108. TRISOMY 18<br />
  109. 109. 50% - occur with DOWN SYNDROME <br />UTZ - &quot;double bubble&quot; sign from duodenal enlargement proximal to the atresia<br />Duodenal atresia<br />
  110. 110.
  111. 111. DOWN SYNDROME<br />
  112. 112. MENDELIAN INHERITANCE<br />polydactyly<br /> extra fingers/toes <br />syndactyly<br /> fused fingers <br />3rd & 4th fingers<br />fused to 1 large<br />digit; seen w/<br />triploidy (69 chromosomes)<br />
  113. 113.
  114. 114. ectrodactyly<br />
  115. 115. ARTHROGRYPHOSIS(&quot;joint claws&quot;) <br />congenital situation with muscle contractures present at birth<br />relatively common<br />non-progressive symptom that can result fr uterine constraint, CNS disease, or failure of certain muscles to develop <br />
  116. 116. Such a stiff fetus freq sustains fractures before or during delivery<br />NB w/ fractured rthumerus<br />
  117. 117.
  118. 118. HEMOLYTIC DISEASE OF THE NEWBORN<br />
  119. 119. ERYTHROBLASTOSIS FETALIS<br />Ab from Rh (-) mother enter the blood stream of her unborn Rh (+) infant damaging the RBCs <br />Infant responds by inc RBC prod & sending out immature RBCs that still have nuclei <br />
  120. 120. Normal RBCs, damaged RBCs, & immature RBCs that still contain nuclei<br />
  121. 121. Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus <br />An IU BT may be indicated<br />
  122. 122. The immune system recognizes Ag & produces Ab that destroy substances containing Ag<br />
  123. 123. HYDROPS FETALIS<br />hydrops, fetal hydrops, universal edema of the NB<br />1st described by Ballantyne in 1892 <br />serious condition - abn fluid accum in 2 or &gt; fetal compartments: ascites, pleural effusion, pericardial effusion & skin edema<br />
  124. 124. May be assoc with polyhydramnios & placental edema<br />Cause: Rhesus (Rh) blood group iso-immunization of the fetus <br />
  125. 125. Epidemiology<br />1 : 600 to 1 : 4Kpregnancies<br />Varies accdg to population risk of the conditions known<br /> Ex: Thailand <br /> - expected freq hydrops fr homozygous α-thalassemia or Bart hydrops is: <br /> 1 : 500–1:1,500pregnancies<br />
  126. 126. ETIOLOGY<br />Hematological causes<br />Iso-immunization hemolytic disease of NB<br />Erythroblastosis fetalis<br />Rhesus, Kell, ABO and Duffy incompatibility<br />
  127. 127. Other HEMOLYTIC disorders: <br />Glucose-6-phosphatase Dehydrogenase Def(G6PD)<br />Glucose Phosphateisomerase (GPI) deficiency<br />Pyruvate kinase (PK) Def<br />
  128. 128. ETIO: <br />RBC PRODUCTION Disorders<br />Congenital dys-erythropoietic anemia<br />Diamond-Blackfan syndrome<br />Lethal hereditary spherocytosis<br />Congenital erythropieticporphyria(Günther&apos;s disease)<br />α-thalassemia<br /> (Bart&apos;s hemoglobinopathy)<br />
  129. 129. ETIO: Fetal HEMORRHAGE<br />intracranial or intraventricular hge<br />hepatic laceration<br />subcapsular hepatic laceration<br />feto-maternal hemorrhage<br />twin-to-twin transfusion<br />
  130. 130. ETIO: CARDIAC causes<br />Abnormalities of Lt Vent outflow<br />Aortic valvularstenosis or atresia<br />Coarctation of the aorta <br />Truncus arteriosus<br />Hypoplastic left heart<br />Endocardialfibroelastosis<br />
  131. 131. ETIO: Abn of Rt Vent <br />outflow<br />Pulmonary ValvularAtresia or insufficiency<br />Ebstein&apos;s anomaly <br />AV-Malforamation<br /><ul><li>Hemangiomas</li></li></ul><li>ETIO: NO structural anom<br />Sup vena cava or Inf vena cava occlusion<br />Intrathoracic or abd masses<br />Disorders of lymph drainage<br />Arrhythmias<br />Supravent tachycardia<br />
  132. 132. …ETIO:<br />Congenital heart block - 66-75% in pregnancies complicated by maternal collagen disease<br />Prenatal closure of the foramen ovale or ductus arteriosus<br />Myocarditis<br />Idiopathic arterial calcification<br />Hypercalcemia<br />
  133. 133. ETIO: <br />INFECTIVE causes<br />Parvovirus B19-slapped cheek syndrome<br />PCR testing demonstrated that 20% fetal <br />hydrops is assoc with:<br />CMV<br />SY<br />HERPES SIMPLEX<br />
  134. 134. …INFECTIVE Causes<br />Toxoplasmosis<br />Hepatitis B<br />Adenovirus<br />Coxsackie virus type B<br />Listeriamonocytogenes<br />Ureaplasmaurealyticum<br />
  135. 135. ETIO: <br />METABOLICand other causes<br /> -inborn errors of metabolism<br />Glycogen-storage disease <br /> type IV<br />Lysosomal storage dis<br />Hypothyroidism<br />Hyperthyroidism<br />
  136. 136. ETIO: CHROMOSOMAL SYNDROMES:<br />Trisomies 10,13,15,18<br />Trisomy 21(Down&apos;s syndrome)<br />Turner&apos;s syndrome (45, X)<br />other autosomal recessive genetic disorders<br />
  137. 137. ETIO: <br />Tumours <br /> Sacrococcygeal Teratoma<br />
  138. 138. PROGNOSIS<br />Spontaneous remission: CAUSES: <br />Cardiac arrhythmias<br />Twin-to-twin transfx syndrome<br />Cystic hygroma<br />Parvovirus & CMV infections<br />Idiopathic ascites or pleural effusions<br />
  139. 139. HYDROPS FETALIS<br />
  140. 140. HYPOSPADIAS<br />Urinary tract opening or urethral meatus opens the underside of the penis or on the perineum<br />
  141. 141. ETIOLOGY<br />Abnormal Devt of penis <br />Various problems w/ male hormone action<br /> Genetic<br />
  142. 142. DIAGNOSIS: <br />P.E. - urethral opening in a wrong position combined with other symptoms :<br />Foreskin incompletely dev resulting in a dorsal hood (tip of the penis exposed)<br />penis curvature (chordee)<br />undescended tested<br />
  143. 143. Untreated HYPOSPADIAS<br />Abn direction of urine flow<br />Abn appearance of penis<br /> Infertility <br />Inability of sexual intercourse<br />
  144. 144. Treatment<br />SURGERY - create a normal straight penis with a urinary channel - tip of the head<br />
  145. 145. If the opening is proximal, treatment with ♂hormone TESTOSTERONE prior to surgery recommended<br />Hypospadias located within or near the scrotum should have a voiding cystogram to R/O add’l urinary tract anomalies <br />
  146. 146. Recommended age of surg repair:<br />between 4-12 mo.<br /> - size of the penis <br /> - slow rate of growth of <br /> the penis <br />Children should not be circumcised: foreskin is essential in repair surgery<br />
  147. 147. PROGNOSIS<br /><ul><li>Post repair the penis - functions normally
  148. 148. Very few children experience post-op complications:</li></ul> wound infections <br /> unexpected opening near the repair site<br />
  149. 149. BLADDER EXTROPHY<br />
  150. 150. GASTROSCHISIS<br />
  151. 151. CLEFT LIP<br />
  152. 152. DIAPHRAGMATIC HERNIA<br />
  153. 153. CLUB FOOT<br />
  154. 154. HYDROCEPHALUS<br /><ul><li>CSF collects in </li></ul>the cranium &gt; <br />vent to dilate <br /><ul><li>At birth or </li></ul>early adulthood<br /><ul><li>Causes:</li></ul> brain tumors, <br />infection, <br />trauma, or <br />devt’lanom<br />
  155. 155. PYLORIC STENOSIS<br />
  156. 156. TRACHEOESOPHAGEAL FISTULA<br />
  157. 157. TRISOMY 13<br />
  158. 158. TURNER SYNDROME<br />
  159. 159. PERINATAL INFECTION<br />
  160. 160. PRIMARY ROUTES:<br />Trans-cervically – <br /> Ascending<br /> - Herpes Simplex II<br /> - inhalation of amniotic fluid<br /> pneumonia<br /> sepsis <br /> most common sequelae<br /> meningitis<br />
  161. 161. 2. TRANSPLACENTALLY – Hematologic via the chorionic villi<br />PARASITIC<br />VIRAL<br /> HIV<br /> Parvovirus B19 – 5th disease<br />BACTERIA<br />Listeria<br />Treponema<br />TORCH INFECTIONS<br />
  162. 162. CONGENITAL SYPHILLIS<br />Early evidence: osteochondritisof femur & tibia<br />early evidence of infection: bullae and vesicular rash<br />
  163. 163. Later evidence saber shins<br /> later evidence <br /> saddle nose<br />Later evidence - Hutchinson&apos;s teeth <br />
  164. 164. PRIMARY SY<br />SECONDARY SY<br /> TERTIARY SY<br /> TERTIARY SY – <br />trophic<br />degeneration<br />
  165. 165. CONGENITAL SYPHILIS <br />granulomatous process : &quot;gumma“ <br />Gumma- located in the heart of a fetus <br />Syphilis acquired IU in the 3rd trimester. <br />
  166. 166. Spirochetes - T. pallidum, the causative agent<br />
  167. 167. RUBELLA<br />
  168. 168. CONGENITAL RUBELLA SYNDROME<br />Rubellacause: Togavirus genus Rubivirus<br />Child: Few/no symptoms<br /> Adults:1-5 day prodrome<br /> LG fever, headache, <br /> malaise, coryza, & <br /> conjunctivitis<br />Arthralgia/arthritis: 70%adult ♀<br />
  169. 169. 1st trim- CRS can cause<br />Abortions<br />Miscarriages<br />Stillbirths<br />Severe birth defects<br />
  170. 170. The most common CRS Congenital defects are: <br />Cataracts<br />Heart disease<br />Sensorineural deafness<br />Mental retardation <br />
  171. 171. HERPES VIRUS<br />HSV-type 1:<br /> oral herpes<br /> fever<br /> blisters: mouth/ face<br />HSV-type2:<br /> Genital Herpes<br />
  172. 172. Both viral types can:<br />Inactive/&apos;silent‘: no symptom<br />cause &apos;outbreaks&apos; of blisters and ulcers <br />People can remain infected for life after the 1st episode<br /> <br />
  173. 173. TRANSMISSION: Direct contact<br /><ul><li> Sexual contact
  174. 174. Anal / Oral / Vaginal sex
  175. 175. Kissing
  176. 176. Skin-to-skin contact</li></li></ul><li>GENITAL HERPES<br />transmitted with or without sores or other symptoms<br />transmitted by people who do not realize infection can be passed on even when there are no symptoms<br />transmitted by people unaware they are infected<br />
  177. 177. HSV-2  <br />Mild to no symptoms<br />Recurrent painful genital ulcers <br />Severe with suppressed immune systems <br />
  178. 178. Severe genital herpes - psychological & emotional  stress<br />Pregnants- fatal infections in infants<br />C/S delivery -  with active genital herpes  <br />
  179. 179. EARLY SYMPTOMS :<br /><ul><li> burning sensation in the genitals
  180. 180. flu-like symptoms
  181. 181. lower back pain
  182. 182. painful urination</li></li></ul><li>Small red bumps – in genital area after initial symptoms &gt; painful blisters: crust over &gt; scab &gt; Heal<br />DIAGNOSIS/TESTING<br />Tzanck smear - scrapings from lesions &gt; stained &gt; examined under microscope<br />
  183. 183. CYTOMEGALOVIRUS<br />Cause: DNA, ether sensitive virus of the herpes family<br />Occurs worldwide <br />Transmission: HUMAN CONTACT – harbors infection for mos. or yrs.<br />About 4 / 5 people &gt; 35 y/o - been infected with CMV in childhood or early adulthood<br />Most cases - mild<br />
  184. 184. CMV – pregnancy hazardous to the fetus:<br /> brain damage<br /> neonatal illness<br /> other birth defects<br /> stillbirth<br />CMVfound in:<br />Blood / breast milk / cervical secretions<br />Feces / saliva / semen / urine/ vaginal secretions<br />
  185. 185. RISK GROUPS :<br />Immunodeficient patients <br />AIDS patients <br />Who received transplanted organs<br />those receiving immunosuppressives - dev<br /> pneumonia / other secondary infections<br />Recipients of BT from donors with + CMV Abs<br />
  186. 186. CMV - spread through the body in lymphocytes or monos to the lungs, liver, and CNS where it produces inflammatory reactions<br />self-limiting<br />
  187. 187. CYTOMEGALOVIRUS<br />
  188. 188.
  189. 189. “owl-eye”<br />
  190. 190. Tubular epithelium of fetal kidney - many large violet INCs<br />Inclusions may appear in the urine<br />
  191. 191. NEONATAL RESPIRATORY DISTRESS SYNDROME<br />Cause: inadeq prod surfactant<br />Surfactant - prod by type II pneumocytes with property of decreasing surface tension<br />Alveolar surfactant - prod after 30 wks AOG <br />
  192. 192. Inadeqsurfactant - causes air sacs to collapse on expiration & greatly increasethe energy req for breathing <br />Interstitial edema makes the lung even less compliant – leads to O2 & retention of CO2<br />
  193. 193. The immature lungs: cannot retain air<br />the air spaces empty completely and collapse after the 1st exhalation <br />Plasma leaks out of the lung tissue and coats the air spaces with a pink coating that is glassy or hyaline in appearance<br />
  194. 194. RISK FACTORS<br />Premature delivery<br />C/S without maternal labor<br />Male infants<br />Hypothermia<br />Perinatal asphyxia<br />Maternal DM<br />Multiple pregnancy<br />Family history of RDS<br />
  195. 195. PRESENTATION<br />preterm delivery - with RD: <br />tachypnea & expiratory grunting<br />subcostal and intercostal retractions<br />diminished breath sounds<br />cyanosis <br />nasal flaring & fatigue<br />apnea and hypoxia<br />
  196. 196. SUDDEN INFANT DEATH SYNDROME<br />SIDS is the unexpected, sudden death of a child under age 1 in which an autopsy does not show an explainable cause of death.<br />
  197. 197. Causes<br />Unknown<br />Problems w/ sleep arousal <br />Inability to sense a build-up of CO2 in the blood <br />
  198. 198. occur w/o any warning or symptoms when the infant sleeping<br />SIDS is most likely to occur betwn 2 - 4 mos & 90% occur by 6 mos<br />occurs more often wet months, with the peak in January<br />
  199. 199. Factors: risk of SIDS<br />Babies who sleep on their stomachs <br />Babies who are around cigarette smoke while in the womb or after being born <br />
  200. 200. Babies who sleep in the same bed as their parents <br />Babies who have soft bedding in the crib <br />Multiple birth babies (being a twin, triplet, etc.) <br />Premature babies <br />
  201. 201. Babies who have a brother or sister who had SIDS <br />Mothers who smoke or use illegal drugs <br />Teen mothers <br />Short time period between pregnancies <br />Late or no prenatal care <br />Situations of poverty <br />
  202. 202. Symptoms<br />no symptoms<br />Babies who die of SIDS do not appear to suffer or <br /> struggle<br />Exams and Tests<br />Autopsy - not able to confirm a cause of death <br />
  203. 203. NEOPLASM<br />
  204. 204. HEMANGIOMA<br />
  205. 205. Beneath the skin surface are many dilated vascular channels filled with many red blood cells<br />
  206. 206. LYMPHANGIOMA<br />There is a large mass involving the left upper arm and left chest of this fetus. <br />
  207. 207. Large lymphatic spaces lined by a thin endothelium <br />Adjacent stroma w/ lymphoid nodules<br />Tend to involve head, neck, & chest<br />
  208. 208. Enlarged lymphatic spaces lined by a thin endothelium – HPO<br />Poorly circumscribed & extend widely to surrounding soft tissues<br />surgical removal difficult<br />
  209. 209. FIBROMATOSIS<br />Fibromatoses:<br /> Rare soft tissue disease characterized by fibroblastic proliferation<br />
  210. 210. CLASSIFICATION<br />Fibroblastic fibromatoses<br />DesmoidFibromatosis<br /> (desmoid tumor, aggressive fibromatosis)<br />Fibromatosiscolli<br />
  211. 211. ….Classification<br />Digital infantile fibromatosis<br />Aponeuroticfibromatosis<br /><ul><li>plantar fibromatosis
  212. 212. palmarfibromatosis
  213. 213. penile fibromatosis</li></li></ul><li>…Classification:<br />Hereditary gingival fibromatosis (idiopathic gingival fibromatosis)<br />Lipofibromatosis<br />
  214. 214. ….. Classification:<br />Myofibroblastic fibromatoses(myofibromatoses) <br />Infantile myofibromatosis<br /> (infantile myofibroma)<br />
  215. 215. According to the LOCALIZATION<br /> <br />Superficial <br />Deep<br />
  216. 216. A 45 days old female infant was brought to the hospital with swelling in the right thigh<br />Noticed swelling - 11 days old, No hx fever, pain / birth trauma, Swelling diffuse from lower end of femur &gt; mid shaft, Margins indistinct but well defined on palpation, Temp normal, No tenderness, Shape fusiform, firm hard in consistency, Non-mobile, overlying skin & surr muscles - free<br />
  217. 217. LNs in drainage area - not palpable, Distal neuro-vascular status - N° x-ray 11 days old did not show any abnormality<br />
  218. 218. On the 45th day of life, - a<br />circumferential overgrowth of <br />radio opaque tissue which <br />covered the normal bone like a <br />shell. Cortices of underlying <br />bone were intact <br />FNAC and Tissue Biopsy - CMF <br />suggestive of fibromatosis<br />
  219. 219.
  220. 220.
  221. 221. TERATOMA<br />Large nasopharyngeal teratoma that is protruding from the oral cavity<br />
  222. 222. Benign<br />3 embryologic germ layers : <br />Skin (ECTODERM) <br /> Cartilage (MESODERM)<br /> Colonic gland (ENDODERM)<br />
  223. 223. CYSTIC FIBROSIS : PANCREAS<br />Ducts - dilated &plugged w/ eosinophilic mucus<br />Acini of exocrine glands - atrophic & replaced by fibrous tissue<br />
  224. 224. MALIGNANT TUMORS<br />
  225. 225. WILM’S TUMOR<br />
  226. 226. <ul><li>Lobulated tan-white mass
  227. 227. Manifests as an abdmass
  228. 228. Most common 1° renal tumor</li></ul> of childhood<br /><ul><li>90% of Wilm’s tumors are </li></ul>diagnosed during <br /> the 1st 6 yrs (2-5) <br /><ul><li>25% of cases </li></ul> are asscwith HPN<br />
  229. 229. <ul><li>Resembles priminephrogeniczone of fetal kidney, w/ primitive glomeruloidstruct& cellular stroma
  230. 230. Assc mutations involvWT1 tumor suppressor gene </li></ul>chrom11<br /><ul><li>Excellent prognosis & >80% cure rate</li></li></ul><li>WT-1 complex ( formerly WAGR): <br />Wilms&apos; tumor <br /> Aniridia (no iris) <br /> Growth Retardation<br />
  231. 231. NEUROBLASTOMA<br />Most common tumor diagnosed &lt; 1 y/o<br />25-35% arise from adrenal medulla<br />2nd most common location: paravertebral region of the posterior mediastinum<br />
  232. 232. In-situ neuroblastomas – 40x &gt; overt<br />Prognosis: depends on the histologic variations, staging & cytogenetic characteristics<br />
  233. 233. Gross: soft, gray, brain-like, necrosis, hges, cystic softening, calcification<br />
  234. 234. “Small round blue cell&quot; tumor<br />Small primitive-appearing cells with dark nuclei, scant cytoplasm, poorly defined cell borders in solid sheets<br />Homer-Wright pseudorosettes<br />
  235. 235. STAGING:NEUROBLASTOMA<br />
  236. 236. RHABDOMYOSARCOMA <br />RARE <br />most common- 1st decade<br />Skeletal muscle derivation <br />Embryonal rhabdomyosarc<br />A variant seen in the genital tract -SARCOMA BOTRYOIDES<br />Alveolar variant <br />Head and Neck & the GUT<br />
  237. 237. Very cellular, esp around blood vessels<br />Hypercellular foci alternate with areas of myxoid <br />or edematous change foci of necrosis<br />
  238. 238. Tumor cells: small & vary in shape fr round to oval to spindle, occ bizarre forms w/ more abundant, brightly acidophilic cytoplasm, Primitive round blue cells “Rhabdomyoblasts” in nests with spaces & surrounded by fibrous stroma. <br />
  239. 239. RETINOBLASTOMA <br />Flexner-Wintersteiner Rosettes <br />&quot; Differentiated structures photoreceptor-linked &quot;<br />
  240. 240. THANK YOU FORYOUR <br /> ATTENTION<br />
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