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PEDIATRIC DISEASES Flashcards

1
Q

congenital anomalies

A

morphologic defects present at birth
- important cause of infant mortality, and high morbidity/mortality throughout early years of life
- include malformations, disruptions, deformations, sequence and syndromes

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2
Q

malformations

A

representations of primary errors of morphogenesis
- ex: cleft lip, polydactyly

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3
Q

primary error of morphogenesis

A

error in embryonic or fetal development that result in chromosomal defects –> structural defects

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4
Q

multifactorial causes of congenital anomalies

A

result of errors in multiple genetic loci and environmental factors, not usually result of a single-gene defect (chromosomes)

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5
Q

environmental causes of congenital anomalies

A

malformations d/t mother exposure to drugs and toxins that have an effect on fetal development
- also includes infections like rubella

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6
Q

thalidomide

A

drug used as a sedative and to treat morning sickness in pregnant women that lead to structural defects in fetal limb formation (phocomelia)

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7
Q

phocomelia

A

formation of limb defects in fetal development (“flipper limbs”) upon mother ingestion of thalidomide

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8
Q

polydactyly

A

error in fetal development leading to addition of fingers/digits

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9
Q

syndactyly

A

error in fetal development leading to fusion of fingers/digits

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10
Q

features of fetal alcohol syndrome

A

epicanthal folds, low nasal bridge, micrognathia (small lower jaw/chin), thin upper lip, flat midface, short palpebral fissures
- common features associated w/ down syndrome

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11
Q

Congenital rubella syndrome

A

tetrad of birth defects associated w fetus after mother contracts rubella infection
- includes cataracts, heart defects (persistent ductus arteriosus), deafness and mental retardation (microcephaly)
- presence of “blueberry muffin” rash in some cases

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12
Q

Zika virus infection on fetal development

A

CNS defects
- most common microcephaly
- defects more critical during 1st trimester

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13
Q

neural tube defects

A

defects associated w failure of brain and spinal cord to develop or close during fetal development
- examples: spina bifida, anencephaly, encephalocele
- improved with proper folic acid intake during pregnancy

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14
Q

spina bifida

A

failure of the spinal column to close, leaving an opening for which the spinal cord protrudes out

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15
Q

Prematurity

A

gestational age less than 37 weeks and weight less than 2500 grams
- second most common cause of neonatal mortality (second to congenital anomalies)

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16
Q

preterm premature rupture of placental membranes (PPROM)

A

amniotic sac breaks before full gestational age (37 weeks), increasing risk of infections as that is the fluid the fetus relies on for nutrients

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17
Q

neonatal respiratory distress syndrome

A
  • hyaline membrane disease
  • common in preterm male infants delivered by C-section
  • vaginal birth places positive stress on baby needed to produce fetal glucocorticoids
  • increased risk in mothers w h/o diabetes –> elevated fetal insulin –> increased glucocorticoid production
  • PE: dyspnea, fine rales
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18
Q

atelectasis

A

alveolar collapse
- common consequence of HMD

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19
Q

hyaline membranes

A

depositions of protein/fibrin-rich exudate in the alveolar spaces d/t alveolar macrophage activity as the lung tries to repair itself

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20
Q

complications of oxygen therapy

A

RIB!

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21
Q

retrolental fibroplasia (retinopathy of prematurity)

A

complication of high-pressure oxygen therapy in infants
- oxygen-toxicity –> endothelial cell injury–> inhibits expression of VEGF, causing endothelial cell apoptosis, then hypoxic state induces expression causing spontaneous new vessels formation responsible for the lesions in the retina
- scar retraction causes retina to detach –> blindness

22
Q

intraventricular and germinal matrix hemorrhage

A

bleeding conditions of the brain associated with preterm labor
- brain at early stages is pudding-like consistency, making it very delicate and easier to injure/bleed

23
Q

Bronchopulmonary dysplasia

A

lung disease in preterm infants usually a complication of RDS
- significant reduction in alveolar wall formation (presence of some thick alveoli (fibrosis in alveolar walls), and collapsed alveoli
- disruption of epithelial cells –> DYSPLASIA

24
Q

necrotizing enterocolitis

A

multifactorial causes; (1) immaturity of the intestinal mucosal barrier and immune system; (2) alterations in the gut microbiome and resultant increased growth of potentially pathogenic bacteria; and (3) an exaggerated inflammatory host response with release of cytokines and chemokines
- absence of microvilli in intestinal epithelia
- PE: distended abdomen, absent bowel sounds (GI muscles weak), bloody stool, possible perforation in abdomen

25
pneumatosis intestinalis
air accumulation in the wall of the intestines d/t bacterial overgrowth
26
hemangiomas
benign vascular tumors formed by blood vessels, most common tumor in infancy
27
capillary hemangioma
occur in the skin, subcutaneous tissues, mucous membranes of oral cavity, lips, liver, spleen and kidneys - SPONTANEOUSLY REGRESS on their own, surgery most often not needed - MOST COMMON TUMOR OF INFANCY - HISTO: blood vessels look like capillaries- closely packed spaces filled with a little blood
28
cavernous hemangioma
benign tumor that is usually less well defined in shape, involving larger dilated blood vessels, thrombi and more frequently involves deep structures - are locally destructive and do not often recover spontaneously--> surgery required - prominent feature of von Hippel-Lindau disease - HISTO: large, dilated blood vessels, filled with blood
29
von Hippel-Lindau disease
autosomal dominant disorder that presents with deep tumors and cysts throughout the body - retinal angiomas, CNS hemangiomas, epididymal cysts, etc
30
teratoma
neoplasm that includes tissue from all three germ layers
31
staging of teratoma severity
mature --> immature --> malignant
32
immature teratoma
neoplasm with indeterminate potential - is not cancerous itself, but if becomes malignant then yes - HISTO: primitive stroma/neuroepithelium which is a sign of early fetal development
33
mature teratoma
benign neoplasm with well-differentiated cystic lesions - HISTO: often has features of a mature tissue type (hair, fat, bone etc)
34
malignant teratoma
has added germ cell tumor component correlating with presence of immature neuroepithelial cells - cancerous teratoma, so worse than immature
35
sacrococcygeal teratoma
teratoma at sacrum, most common teratoma of childhood - is just location of teratoma, NOT stage of teratoma - most are mature (75%), 12% malignant, rest immature - 10% d/t congenital anomalies and defects in hindgut/cloacal/genitourinary regions) - spina bifida
36
blastema
tissue type composed of undifferentiated cells
37
Examples of malignant tumors
leukemia, retinoblastoma, neuroblastoma, wilms tumor, etc
38
neuroblastoma
malignant tumor of the sympathetic ganglia and adrenal medulla - most common tumor of adrenal MEDULLA, not cortex, in children - formed from neural crest cells that replicate and spread - defined by presence of PRIMITIVE stroma - median age of diagnosis ~ 18mos - HISTO: presence of Homer-Wright Pseudorosettes (neuroblastic cells)
39
which neuroblastomas/neoplasms are easiest to diagnose?
mature - presence of differentiated tissue helps determine origin
40
Ganglioneuroblastoma
neuroblastic tumor defined by the presence of primitive stroma AND ganglion cells - presence of all three features: primitive neuroblasts, schwannian stroma and ganglion cells
41
Ganglioneuroma
neuroblastic tumor defined by the presence of schwannian stroma and ganglion cells - contains most differentiated tissue, making treatment options and prognosis better since these cells can be better targeted
42
Common sites of metastasis of neuroblastomas
lymph nodes, liver, lungs, bone marrow, bones, skin
43
Homer-Wright Pseudorosettes
neuroblastic tumor cells associated with neuroblastomas
44
5 important factors of a neuroblastoma prognosis
age, stage (most important 2), NMYC Amplification, histological appearance, DNA ploidy
45
stages of neuroblastomas
1-4, defined on the basis of local, regional, and distant spread - "S"= special--> outlook for these patients is excellent, despite wide spread of disease - stages 1, 2A and 2B, 4S have excellent prognosis irrespective of age as they are usually limited to adrenal gland at these stages
46
effect of age on neuroblastoma prognosis
younger than 18 mos has best prognosis regardless of stage of neoplasm - especially 1st year of life
47
N-myc Amplification
overexpression of N-myc oncogene that is associated with rapid tumor expression - the greater the amplification/# of copies, the worse the prognosis = HIGH RISK - HISTO: florescence-stained presentation in neuroblastic cells
48
Retinoblastoma
most common primary intraocular malignancy of children - ~40% d/t germline mutation of Rb gene, remaining cases are sporadic somatic mutations - malignant cell: neuronal origin - prognosis: determined by extraocular extension and invasion of optic nerve - metastasis: tends to spread to brain and bones, sometimes the lungs - HISTO: necrosis, calcifications in retinal tumor, presence of Flexner-Wintersteiner rosettes, hyperchromatic nuclei, scanty stroma
49
Flexner-Wintersteiner rosettes
tumor cells that line up around an empty lumen delineated by a distinct eosinophilic circle composed of terminal bars analogous to the outer membrane of the normal retina
50
Wilms tumor
nephroblastoma that is the most common primary renal tumor of childhood - is also associated with other diseases, so could be a symptom of something else - also linked to deletion of tumor suppressor gene WT1 on chromosome 11 - PE: enlarged palpable mass, hematuria, anorexia, nausea/vomiting, fever, abdominal pain - diagnosis: 2-5 y/o (95% tumors before age 10), would require imagining and sectioning of tumor - prognosis: very good - HISTO: triphasic tumor histology- stromal, epithelial and blastemal features
51
Anaplasia
cells with large, hyperchromatic nuclei and abnormal-looking mitoses - present in ~5% of tumors - critical feature of Wilms tumor
52

PATHOLOGY (10 decks)

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