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Clinical Science > disease manifestations > Flashcards

disease manifestations Flashcards

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1
Q

Down syndrome

A

-Trisomy 21
-cardiac defects
-intestinal malformations
-vision abnormalities
-hearing loss
-recurrent respiratory infections
-memory loss w/increased risk of Alzheimer’s
-decreased muscle tone
-flat facial features
small nose
-upward slant of eyes
-hyper-flexibility
-wide gap between 1st and 2nd toes

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2
Q

Klinefelter syndrome

A
  • XXY genotype
  • small testes
  • abnormally low sperm count
  • elevated levels of FSH and LH
  • decreased serum testosterone
  • abnormal arm and leg length
  • increased risk of breast cancer and pulmonary disease
  • impaired psychosocial skills (ADHD, impaired judgment, lack of insight)
  • impaired higher language skills
  • increased risk of non-hodgkin’s lymphoma, leg ulcers, and diabetes
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3
Q

Turner syndrome

A
  • XO genotype
  • short, wide chest
  • prominent neck skin folds (webbed neck)
  • usually sterile, low estrogen
  • small breasts
  • normal mental development
  • hearing loss
  • hypothyroidism
  • autoimmune thyroiditis
  • elevated liver enzymes
  • primary amenorrhea
  • osteoporosis
  • abnormal renal structures
  • diabetes
  • hyperlipidemia
  • hypertension
  • aortic dissection
  • increased CV mortality
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4
Q

Thalidomide

A
  • 1950’s sedative for pregnant women
  • crossed placenta
  • amelia (no limbs)
  • meromelia (partial limb)
  • phocomelia (absence of long bones)
  • deafness
  • blindness
  • cleft palate
  • congenital heart disease
  • malformation of ear
  • intellectual disability and autism
  • urogenital and gastrointestinal defects
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5
Q

Diethylstilbestro (DES)

A
  • potent estrogen
  • used to prevent spontaneous abortion

“DES daughters”

  • twofold increase in vaginal and cervical intraepithelial neoplasm
  • structural defects in cervix, uterus, or fallopian tubes
  • infertility and poor pregnancy

“DES sons”
-increased risk for epididymal cysts, microphallus, cryptorchidism, testicular hypoplasia, decreased sperm count

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6
Q

Vitamin A (as teratogen)

A
  • cleft lip
  • cleft palate
  • hydrocephalus
  • cardiac deformities
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7
Q

Isotretinoin

A
  • used in treatment of cystic acne
  • increases risk of spontaneous abortion (20-30%)
  • malformations can involve any organ system
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8
Q

ACE inhibitors (as teratogen)

A

when used in 2nd or 3rd trimester:

  • growth retardation
  • renal dysfunction
  • fetal demise
  • oligohydramnios (less amniotic fluid = fetal distress)
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9
Q

SSRI (as teratogen)

A
  • may increase risk for spontaneous abortion

- increased risk of cardiovascular defects

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10
Q

Anticonvulsants (as teratogen)

A
  • cleft palate
  • cleft lip
  • atrial septal defects
  • spina bifida
  • development delay
  • limb abnormalities
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11
Q

NSAIDs (as teratogen)

A
  • cardiac ventricular and septal defects
  • pulmonary hypertension
  • possible increased rate of spontaneous abortion
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12
Q

Warfarin (as teratogen)

A
  • skeletal abnormalities
  • nasal hypoplasia
  • long bone development abnormalities
  • limb hypoplasia
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13
Q

Benzodiazepines (as teratogen)

A
  • neonatal withdrawal
  • hypoplasia (decreased muscle tone)
  • cyanosis
  • “floppy infant syndrome”
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14
Q

Fetal Alcohol Syndrome (FAS)

A
  • irritability, jitteriness, sleep disruption
  • coordination or balance abnormalities
  • diminished IQ
  • memory and cognitive impairment
  • ADD/ADHD
  • inappropriate behavior; lack of social cues
  • small head
  • low nasal bridge
  • epicanthal folds
  • flat mid face
  • smooth philtrum
  • thin upper lip
  • underdeveloped jaw
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15
Q

Tobacco (as teratogen)

A
  • preterm delivery
  • low birth weight
  • SIDs
  • placenta previa
  • cleft lip or palate
  • gastroschisis (organs outside of body)
  • limb reduction
  • digital defects
  • cardiac defects
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16
Q

Opioids (as teratogen)

A

-congenital heart defects
-fetal growth restriction
-abruptio placenta (placenta pulls away)
-fetal death
-preterm labor
look for:
-high pitched cry
-poor feeding
-irritability
-altered sleep patterns
-abnormal reflexes; hypertonicity
-feeding difficulties
-seizures
-respiratory complications
-small for gestational age

17
Q

Toxoplasmosis (mother)

A
  • fatigue
  • fever
  • headache
  • malaise
  • myalgia
  • lymphadenopathy
18
Q

Congenital toxoplasmosis

A
  • chorioretinitis
  • hydrocephalus
  • intracranial calcifications
  • jaundiced
  • enlarged spleen
  • enlarged liver
  • seizures
19
Q

Congenital Syphilis

A

-nasal discharge - white to bloody
-heptaomegaly
-rash
-lymphadenopathy
-CNS; seizures, hydrocephalus
-hematologic abnormalities
-long bone development abnormalities
Later stages:
-saddle nose
-keratinitis
-glaucoma
-corneal scarring
-optic atrophy
-abnormal tooth development
-fissures around mouth
-intellectual disability, hydrocephalus
-arthritis and joint abnormalities

20
Q

Congenital Rubella

A

-fetal death
-premature delivery
-intrauterine growth retardation
-low birth weight
-hearing loss
-microcephaly
-cataracts
-hepatosplenomegaly
-diabetes
-thyroid dysfunction
-encephalitis
-bone lesions
-meningoencephalitis
-purpura and petechiae
(blueberry muffin rash)

21
Q

Cytomegalovirus (CMV)

A

member of herpes family
mother has mono-like symptoms

child has:
-progressive hearing loss
-jaundice
-small gestational age
-hepatomegaly
-petichiae and purpura (blueberry muffin rash)
-microcephaly
-seizures
-feeding difficulty
-retinal scars
chorioretinitis
-optic atrophy
-central vision loss
-abnormal blood counts
-elevated liver function
-elevated bilirubin
-hemolytic anemia
22
Q

Herpes Simplex (intrauterine)

A

rare but serious

  • infarcts of placenta
  • inflammation of umbilical cord
  • hydrops fetalis
  • fetal demise
  • skin vesicles, ulceration, scarring
  • ocular damage
  • microcephaly; CNS deformities
23
Q

Herpes Simplex (neonatal)

A
  • fever/sepsis
  • apnea
  • irritibility
  • lethargy
  • respiratory distress
  • abdominal distention
  • hepatitis
  • hyperbilirubinemia
  • neutropenia/thrombocytopenia
  • Disseminated intravascular coagulation (bleed to death)
  • hemorrhagic pneumonitis
  • necrotizing enterocolitis (bowel death)
  • meningoencephalitis and seizures
  • skin vesicles
  • respiratory and liver failure
  • mortality exceeds 80% when untreated
24
Q

Hemophilia

A
  • mutation in F8 or F9 gene on X chromosome
  • hemophilia A and B are typically indistinguishable; A is more common
  • X-linked recessive
  • males more affected
  • newborns can present with intracranial hemorrhage and seizures
  • excessive bruising, hematomas, hemarthroses (bleeding into joint capsule)
  • epistaxis
  • bleeding after coughing
  • blood in stool
  • hematuria
  • menorrhagia
25
Q

Von Willebrand Disease

A

VWF acts as a carrier protein for factor V11 in plasma (blood coagulation)

  • VWF gene (chromosome 12)
  • most commonly inherited bleeding disorder
  • mostly autosomal dominant
  • affects men and women equally
  • epistaxis
  • easy bruising
  • menorrhagia
  • 3 types each with varying degrees of bleeding symptoms
  • Type 1: autosomal dominant
  • Type 2: autosomal recessive
26
Q

Sickle cell disease

A
  • autosomal recessive
  • shorter life expectancy
  • failure to thrive
  • anemia
  • splenomegaly
  • multiple infections
  • swelling of extremities from vaso-occlusion
  • jaundice
  • cholelithiasis
  • abdominal pain
  • stroke
  • renal necrosis
  • leg ulcers
  • priaprism
  • vision loss
27
Q

Familial Hypercholesterolemia

A
  • LDL receptors are either absent or defective
  • typically heterozygous dominant
  • artherosclerosis
  • tendon xanthomas (fatty deposits on skin)
  • xanthelasma (fatty deposits on eyes)
  • premature CHD or sudden cardiac death
28
Q

Marfan Syndrome

A
  • disorder of connective tissue (eye, aorta, skin, long bones)
  • autosomal dominant
  • connective tissue is overly elastic
  • classic manifestations involve cardiovascular, skeletal, or ocular abnormalities
  • lung, skin, and nervous system also involved
  • aortic dilation - major cause of death
  • aortic aneurysm, aortic regurgitation, aortic dissection
  • mitral valve prolapse
  • excess linear bone growth
  • tall with long arms
  • arachnodactyly (spider fingers)
  • dolichostenomelia (arm span > body height)
  • positive thumb sign
  • positive wrist sign
  • can have pectus carinatum (funnel chest) or pectus excavatum (pigeon chest)
  • flat feet
  • scoliosis
  • kyphosis
  • ectopia lentis (dislocated lens)
  • spontaneous pneumothorax
  • skin striae
  • incisional hernias
  • lumbosacral dural ectasia
29
Q

Familial thoracic aortic aneurysms and dissections

A

-autosomal dominant
-most who have aneurysms are asymptomatic
-may be found incidentally on CXR
-chest pain
-upper back/left shoulder pain
-hypotension
-may have ECG changes
The Four P’s:
-Pallor
-Pulselessness
-Paresthesias
-Paralysis

30
Q

Hereditary Cardiomyopathies

A
  • leading cause of sudden death in athletes
  • autosomal dominant
  • left ventricular hypertrophy
  • impaired left ventricular contractility
  • dyspnea on exertion
  • chest pain
  • palpitations
  • chest pain
  • syncope
  • arrhythmias

Clinical Science (1 decks)

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