Infancy and Childhood disease Flashcards by DJ Reloj

Denotes rupture of amnion

amniotic bands

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Intrinsic abnormality

malformation

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Extrinsic disturbance

deformation

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Cascade of anomalies triggered by one initiating event

Sequence

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Constellation of congential anomalies

syndrome

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Classic syndrome of viral etiology.

Triad of cardiac abnormalities (PDA), deafness, eye abnormalities.

congenital rubella syndrome

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TORCH

Toxoplasma gondii
Other - HIV, Coxsackie, Parvo B19
Rubella
CMV
HSV

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Causes downregulation of the developmentally important wingless signaling pathway

Thalidomide

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Growth retardation, microcephaly, ASD, short palpebral fissures, maxillary hypoplasia

Fetal alcohol syndrome

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Time period of gestation most susceptible to teratogenesis

3rd to 9th week peaking 4-5th

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Teratogen that causes craniofacial abnormalities including holoprosencephaly and cyclopia

cyclopamine

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Excessive exposure causes CNS, cardiac, and craniofacial defects (cleft palate)

retinoic acid (vit A metabolite)

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2nd most common cause of neonatal mortality

prematurity - less than 37 weeks

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ROM after 37 weeks

PROM (premature)

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ROM before 37 weeks

PPROM (preterm premature)

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Common risk factors of PPROM

maternal smoking
prior history
vaginal bleeding
low socioeconomic status
poor maternal nutrition

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Inflammation of placental membranes seen in premature labor

chorioamnionitis

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Cause of SGA resulting in asymmetrical growth retardation with relative sparing of the brain

placental causes

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Causes of SGA that result in symmetric growth restriction

fetal causes (chromosomal, congenital, infections)

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Risk of HMD/RDS at 32-36 weeks

20%

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Risk of HMD/RDS after 36 weeks

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Risk of HMD/RDS less than 28 weeks

> 50%

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Type II pneumocytes become maximally active after

35 WOG

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Other factors contributing to HMD/RDS

maternal diabetes, cesarean delivery, neonatal asphyxia, twins

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Components of surfactant

dipalmytoyl phosphatidylcholine, proteins

CXR shows uniform minute reticulocgranular densities (ground glass picture)

HMD

Disease of prematurity resulting from ischemia, bacterial colonization, or excess protein in lumen.of terminal ileum

necrotizing enterocolitis

1 minute APGAR indicates

how well the baby tolerated birthing process

5 minute APGAR indicates

how well the baby is doing outside the womb

APGAR test is based on these 5 categories:

``` Skin color (Appearance) Heart rate (Pulse) Reflex irritability (Grimace) Muscle tone (Activity) Breathing (Respiration) ```

Norml APGAR score

7-9 10 unusual

Ascending perinatal infections are acquired

transcervically

Hematologic perinatal infections are acquired

transplacentally

Causes erythema infectiosum or fifth disease transplacentally

Parvovirus B19

Early onset sepsis after birth usually caused by

Group B strep

Late onset sepsis caused by

Listeria and Candida

Generalized edema of fetus due to fluid collection in soft tissues

hydrops fetalis

Newborn with abdominal distension, ileus, bloody stool. Radiographs reveal gas within intestinal wall.

necrotizing enterocolitis

Non-immune hydrops caused by

CVS defects chromosomal anomalies fetal anemia

Immune hydrops is caused by

Usually Rh disease Anemia (destruction of RBC) causes cardiac decompensation resulting in hydrops

Consequences of immune hydrops:

anemia | jaundice - kernicterus

Pale and yellow newborn with hepato- and splenomegaly with generalized edema:

immune hydrops secondary to Rh disease

Inborn metabolic error with deficiency of phenylalanie hydroxylase

PKU phenylketonuria

SIDS parental risk factors:

Young maternal age Maternal smoking Drug abuse in mother/father

In classic galactosemia what enzyme is deficient?

GALT | galatose-1-phosphate uridyltransferase

In variant galactosemia what enzyme?

galctokinase

SIDS infant risk factors:

Male Prematurity Antecedent respi infections

CFTR gene located where?

Chromosome 7q31.2

Musty odor of infant - suspect what?

PKU

Mother has chief complaint of vomiting and diarrhea in newborn. On PE --> Jaundice, hepatomegaly, infantile cataracts, mental retardation. Suspected disease:

galactosemia hepatomegaly due to fatty change, jaundice follows with scarring galactitol accumulates in eye

Diagnostic test of CF

Increased Cl ions in sweat (ENaC defect) Chloride channel defect in sweat duct increase Cl ion concentration (ENaC is Na and Cl in same direction) Na and Cl no absorpbed --> SALTY sweat

Hemangiomas are derived from where

mesenchyme

Teratoma admixed with another germ cell tumor component such as endodermal sinus fluid

unequivocal malignant teratoma

Treatment for PKU

decrease phenylalanine | increase tyrosine

On physical exam: 4 year old boy with large cystic mass on head and neck

lymphangioma, cystic hygroma

What accumulates in the eyes of infants with galactosemia?

galctitol

Most common leukemia in children

ALL

CF pathogenesis in lungs? Pancreas?

Defective Cl channel --> Cl ion unable to enter lumen--> Na reabsorption increased, water follows --> Dry, thick mucus plugging lungs, pancreas, liver --> Chronic infection Pancreatic glands atrophy --> ADEK malabsorption

Environmental SIDS risk factors

prone sleeping position soft sleeping surface hyperthermia

Lymphatic dilation resulting in diffuse swelling is referred to as

lymphangiectasis

t(12;15)(p13q25) is characteristic of

congenital-infantile fibrosarcoma

Presence of nephrogenic crest indicates risk of:

Wilm's tumor on CONTRALATERAL kidney

18 month old baby (+) rosettes

neuroblastoma Homer-Wright pseudorosettes

Aniridia, genital anomalies, mental retardation, prone to Wilm's:

WAGR syndrome

On autopsy, baby showed multiple petechiae, congested lungs, and astrogliosis.

SIDS

Genetic mutation associated in Wilm's tumor?

11p13 deletion (WT1 gene)

Presence of these cells indicate better prognosis in neuroblastoma

Schwann cells

Organomegally, genomic imprinting pattern; | prone to Wilm's tumor:

Beckwith-Wiedemann Syndrome

Tumor of sympathetic ganglia (most commonly adrenal medulla) of chidlren

neuroblastoma

Gonadal dysgenesis, nephropathi, diffuse mesangial sclerosis, prone to Wilm's tumor

Denys-Drash syndrome

15% association to this neoplasm with beta-catenin mutations

Wilm's tumor

Phenomenon where certain genes are expressed in a parent-of-origin-specific manner

genomic imprinting

Mutation in anaplastic lymphoma kinase (ALK) gene results in what neoplasm?

neuroblastoma

Posterior fossa neoplasms in children include

Juvenile astrocytoma medulloblastoma ependymoma

11p15 mutation

Beckwith-Widmann syndrome