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Case 13: FASD > Anat Path: FASD > Flashcards

Anat Path: FASD Flashcards

1
Q

What is fetal alcohol spectrum disorder definition

A

Umbrella term describing the range of effects resulting from exposure of a fetus to alcohol

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2
Q

What is FASD a consequence of

A

Maternal alcohol ingestion during pregnancy

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3
Q

What is the most severe form of FASD

A

FAS

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4
Q

What is 4 other conditions of FASD

A
  1. Partial FAS
  2. Alcohol related neurodevelopmental disorders
  3. Alcohol related birth defects
  4. Other conditions like spontaneous abortion & sudden infant death syndrome
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5
Q

When is pFAS, ARND & ARBD suspected

A

In individuals with a known/highly suspected history of prenatal alcohol
Alcohol related deficit that not meet full criteria of FAS

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6
Q

What is the 3 management strategies of FASD

A
  1. Early diagnosis for early intervention
  2. Multidisciplinary evaluation
  3. Psychoactive drugs & behavioral intervention
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7
Q

What has an effect on alcohol metabolism

A

Genetics & environmental factors (different metabolism leads to different effects)

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8
Q

When is Cytochrome P450 involved

A

Large amount of alcohol consumption

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9
Q

Does catalyze metabolism a small or big amount of alcohol

A

Small fraction

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10
Q

Where does alcohol metabolism cause damage & how

A

Liver & pancrease
Small amount of alcohol interact with FA to form fatty acid ethyl esters (FAEE)

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11
Q

What 4 things does the risk of developing FASD depend on

A
  1. Frequency of alcohol consumption
  2. Amount consumed per time
  3. When during the pregnancy consumed
  4. Other factors: older age, smoking & poor general health
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12
Q

What is the pathophysiology of FASD development

A
  1. Alcohol crosses the placenta & rapidly reaches fetus
  2. Fetus depends on maternal hepatic detoxification due to insufficiency ADH
  3. Amniotic fluid act as a reservoir for alcohol that prolongs fetal exposure
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13
Q

What is the 5 effects of alcohol on the fetus

A
  1. Cellular growth & differentiation
  2. DNA & protein synthesis
  3. Inhibiting cell migration
  4. Decrease delivery of AA, glucose, folic acid & other nutrients
  5. Elevated EPO suggest chronic fetal hypoxia
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14
Q

What is the net effect of alcohol on the fetus

A

Negative impact on growth

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15
Q

What is 5 other things alcohol consumption increase the risk of

A
  1. Spontaneous abortion
  2. Placental abruption
  3. Preterm delivery
  4. Chorioamnionitis
  5. Sudden infant death syndrome (SIDS)
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16
Q

What is the 3 main categories of abnormalities in FAS

A
  1. Growth retardation
  2. Craniofacial abnormalities
  3. CNS dysfunction
    “4. Confirmed history of alcohol abuse”
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17
Q

What is the 4 effects of alcohol on growth

A

Prenatal & postnatal height & weight <10 percentile
Catch up growth does not occur
Asymmetric IUGR (if growth disruption occur in 3rd trimester)
Normal sized head & length but smaller than normal body

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18
Q

What is 3 main craniofacial features in FAS

A
  1. Thin upper lip
  2. Smooth philtrum
  3. Short palpebral fissures
  4. Flattened midface
  5. Epicanthic folds
  6. Microcephaly
  7. Short upturned nose
  8. Micrognathia
  9. Rail-roadtrack ears
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19
Q

What is the 2 types of CNS dysfunction in FAS

A
  1. Structural abnormalities
  2. Functional abnormalities
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20
Q

What is 3 structural neurological abnormalities in FAS

A
  1. Agenesis of corpus calllosum
  2. Cerebellar hypoplasia
  3. Meningomyelocoele (NTD)
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21
Q

What is 8 functional CNS dysfunctions in FAS

A
  1. Learning disability
  2. Poor impulse control/memory/attention span/social skills/hand eye coordination
  3. Sleep disorders
  4. Seizures
  5. Hypotonia
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22
Q

What is the 4 diagnostic criteria for FAS

A
  1. Growth deficiency below 10th percentile
  2. FAS facial features: smooth philtrum, thin upper lip & short palpebral fissures
  3. DNS damage
  4. Confirmed history of alcohol use during pregnancy
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23
Q

What is the 3 features of pFAS

A

Growth can be normal/deficient
2/3 FAS facial features present
CNS damage is present at same level of FAS

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24
Q

What is the 3 features of ARND

A

Predominantly CNS damage
Normal/minimal growth deficit
No FAS facial features

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25
Q

When is ARND diagnosis applicable

A

In confirmed prenatal alcohol exposure

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26
Q

What is ARBD

A

Not diagnostic of FAS but occur with FAS

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27
Q

What is the 6 systems influenced by ARBD w/ examples

A
  1. Cardiac: VSD, ASD, tetralogy of Fallot
  2. Renal: horseshoe kidney, dysplastic kidneys
  3. Ocular: optic nerve hypoplasia
  4. Skeletal: small distal phalanges
  5. Others: Cleft lip/palate, spina bifida, aortic coarctation
  6. Malignant tumors: nephroblastoma, neuroblastoma
28
Q

What is 3 other names for congenital anomalies

A

Birth defects, congenital disorders or congenital malformation

29
Q

What is the definition of congenital anomalies

A

Structural or functional anomalies occurring during intrauterine life & can be identified prenatally, at birth or later in life

30
Q

What is the 5 categories of congenital anomalies

A
  1. Malformation
  2. Disruption
  3. Deformation
  4. Sequence
  5. Syndrome
31
Q

What is malformation

A

Primary, intrinsic abnormal developmental process

32
Q

What is disruption

A

Secondary destruction of previously normal organ arise from extrinsic disturbance in morphogenesis

33
Q

What is deformation

A

Abnormal form, shape or position of a body part is present because of abnormal mechanical forces

34
Q

What is sequence

A

Cascade of events trigged by an abnormality via extrinsic disturbance

35
Q

What is syndrome

A

Associated grouping of congenital abnormalities that can’t be explained by a single event

36
Q

What is 4 causes of congenital malformations

A
  1. Mutant genes
  2. Chromosomal anomalies
  3. Multifactorial disorder due to interaction between genetic predisposition & environmental factors
  4. Teratogenic agents
37
Q

What is the cause of congenital sequence

A

Pattern of multiple anomalies derived from single known or presumed prior anomaly or mechanical factor

38
Q

What is an example of congenital sequence

A

Potter’s disease

39
Q

What is the cause of congenital deformation

A

Mechanical forces either extrinsic (lack of amniotic fluid) or intrinsic (defect of nervous system)

40
Q

What is 2 examples of congenital deformation

A

Club foot or dislocated hip

41
Q

What is the 2 classification systems of neural tube defects

A
  1. Open or closed
  2. Vertebrae or cranial
42
Q

When does neural tube defects occur

A

Occurs 21-28 days after conception

43
Q

What is the prevention of neural tube defects

A

Pre-conceptual folic acid

44
Q

What is 5 causes of neural tube defects

A
  1. Combination of genetics, environment & maternal
  2. Genetics like trisomy 13, triploidy
  3. Maternal diabetes
  4. Anti-epileptic drugs
  5. Alcohol
45
Q

What is 3 prenatal diagnostic tests

A
  1. Ultrasound
  2. Invasive tests like amniocentesis, fetal cord blood sampling or chorionic villus sampling
  3. Maternal serum screening for AFP at 16 weeks for NTD
46
Q

What is 3 spinal defects

A
  1. Spina bifida occulta
  2. Meningocele
  3. Meningomyelocele
47
Q

What is spina bifida occulta

A

Closed vertebral defect with normal cord & membranes

48
Q

Where does spina bifida occulta occur

A

Lumbosacral

49
Q

What 3 things does the skin over the defect in spina bifida occulta show

A
  1. Abnormal pigmentation
  2. Hairy path
  3. Dermal sinus
50
Q

What is meningocele & whether it is open or closed

A

Meningeal sac protrude through bony defect & closed defect as covered with skin

51
Q

What is meningomyelocele & whether it is open or closed

A

Skin overlying the sac ruptures exposing abnormal meninges & nerve root
Abnormal/incomplete formed cord
Open defects

52
Q

Where does meningomyelocele occur

A

Lower thoracic, lumbar & upper sacral spine

53
Q

What is 5 clinical presentation of myeningomyelocele

A
  1. Hydrocephalus
  2. Joint deformities
  3. Restriction of movement
  4. Absent anal sphincter
  5. Bladder enervation
54
Q

What is the 2 outcomes of meningomyelocele

A

May die at birth
Develop ascending meningitis

55
Q

What is the survival rate of meningomyelocele beyond 6 months without treatment

A

<10%

56
Q

What is 3 cranial defects

A
  1. Encephalocele
  2. Anencephaly
  3. Hydrocephalus
57
Q

What is the definition of hydrocephalus

A

Presence of excessive amount of CSF within cranial cavity

58
Q

What is the treatment of hydrocephalus

A

Ventricular shunt with one way valve to drain CSF into peritoneum

59
Q

What is 3 causes of hydrocephalus

A
  1. Obstruction to CSF flow with dilation of ventricular system proximal to obstruction
  2. Overproduction of CSF
  3. Defective reabsorption of CSF
60
Q

What is 4 clinical appearances of hydrocephalus

A

Macrocephaly
Widely separated sutures
Huge fontanelles
Small face

61
Q

What 3 things does progressive hydrocephalus result in

A

Intellectual impairment, spastic paraplegia or cerebellar ataxia

62
Q

What is anencephaly

A

Cranial vault missing & base of skull poorly formed

63
Q

What is the 2 consequences of anencephaly

A

Covering of brain fail to develop & developing brain is exposed to amniotic fluid

64
Q

What part of the brain is absent in anencephaly

A

Cerebrum & cerebellum absent

65
Q

What is the appearance of the base of the skull in anencephaly

A

Disorganized brain tissue & blood vessels

66
Q

What is the 3 causes of anencephaly

A
  1. Cranial end of neural tube fails to lose
  2. Acrania: absence of cranial bone
  3. 50% associated with craniorachischisis both brain & spinal cord remain open
67
Q

What is encephalocele & where does it occur

A

Defect in skull bone (occipital)
Midline

Case 13: FASD (9 decks)

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