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Case Presentations

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Plan: In view of the advanced gestational age no inetrvention justifiable ... rare, arise between the ethmoid and sphenoid bones and may present as an intranasal mass ... – PowerPoint PPT presentation

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Title: Case Presentations


1
Case Presentations
Fetal Medicine
  • Dr Ermos Nicolaou
  • Fetal Medicine Unit
  • Chris Hani Baragwanath Hospital

October 2003
2
Case 1
Fetal Medicine
  • Ms A M
  • 22year old P0 G1
  • Referred from Sebokeng Hospital at 36w for
    polyhydramnios
  • On Ultrasound
  • Mild/Moderate ventriculomegaly
  • Large cystic mass arisisng from the posterior
    aspect of the fetal
  • skull 120x 170mm in diameter
  • No other abnormalities seen
  • Dx Large Meningocele
  • Plan In view of the advanced gestational age no
    inetrvention justifiable
  • Elective C/S at 38w and post natal assessment

3
Fetal Medicine
4
Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Case 1
Fetal Medicine
  • Elective C/S performed no complications
  • Antenatal findings confirmed

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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Case 1
Fetal Medicine
  • Baby admitted to neuro-surgical ward
  • Neurological assessment normal at this point
  • CT scan Occipital meningocele
  • No brain tissue involved
  • Moderate dilatation of the ventricles

13
Case 1
Fetal Medicine
  • Surgery performed on day 9 post delivery
  • Uneventful procedure
  • Baby discharged on day 4
  • For follow up in 1 week

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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
18
Case 2
Fetal Medicine
  • Mrs N N
  • 32 year old P0 G1
  • Had normal NT at 12 weeks
  • Presents at 20 w 2d with a central supra-ocular
    mass

19
Fetal Medicine
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Fetal Medicine
21
Case 2
Fetal Medicine
  • On scan
  • Anterior/ frontal encephalocele, lemon sign
  • Nasal bone not visible
  • Central ossification failure
  • Rest of face appears normal
  • No other abnormalities seen

22
Case 2
Fetal Medicine
  • Counselling
  • TOP
  • Conservative management with close monitoring
  • ? Patient absconded

23
NEURAL TUBE DEFECTS
Fetal Medicine
  • These include
  • Anencephaly
  • Spina bifida
  • Encephalocoele
  • In anencephaly there is absence of the cranial
    vault  (acrania) with secondary degeneration of
    the brain
  • Encephaloceles are cranial defects, usually
    occipital, with herniated fluid-filled or
    brain-filled cysts

24
NEURAL TUBE DEFECTS
Fetal Medicine
  • In spina bifida the neural arch, usually in the
    lumbosacral region, is incomplete with secondary
    damage to the exposed nerves

25
NEURAL TUBE DEFECTS Prevalence
Fetal Medicine
  • Subject to large geographical and temporal
    variations
  • In the UK the prevalence is about 5 per 1,000
    births
  • Anencephaly and spina bifida, with an
    approximately equal
  • prevalence, account for 95 of the cases and
    encephalocele for
  • the remaining 5

26
NEURAL TUBE DEFECTSEtiology
Fetal Medicine
  • Chromosomal abnormalities, single mutant genes,
    and maternal
  • diabetes mellitus or ingestion of teratogens,
    such as antiepileptic
  • drugs, are implicated in about 10 of the cases
  • precise etiology for the majority of these
    defects is unknown
  • When a parent or previous sibling has had a
    neural tube defect,
  • the risk of recurrence is 5-10. Periconceptual
    supplementation of
  • the maternal diet with folate reduces by about
    half the risk of
  • developing these defects

27
NEURAL TUBE DEFECTSAnencephaly
Fetal Medicine
  • Diagnosis of anencephaly during the second
    trimester of
  • pregnancy is based on the demonstration of absent
    cranial vault
  • and cerebral hemispheres
  • Associated spinal lesions are found in up to 50
    of cases
  • In the first trimester the diagnosis can be made
    after 11 weeks, when ossification of the skull
    normally occurs

28
NEURAL TUBE DEFECTSAnencephaly
Fetal Medicine
29
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
  • Diagnosis of spina bifida requires the systematic
    examination of
  • each neural arch from the cervical to the sacral
    region both
  • transversely and longitudinally
  • In the transverse scan the normal neural arch
    appears as a
  • closed circle with an intact skin covering,
    whereas in spina bifida
  • the arch is "U" shaped and there is an associated
    bulging
  • meningocoele (thin-walled cyst) or
    myelomeningocoele

30
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
31
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
  • The diagnosis of spina bifida has been greatly
    enhanced by the
  • recognition of associated abnormalities in the
    skull and brain
  • Secondary to the Arnold-Chiari malformation and 
    include
  • frontal bone scalloping (lemon sign),
  • and obliteration of the cisterna magna
  • with either an "absent" cerebellum or abnormal
    anterior
  • curvature of the cerebellar hemispheres (banana
    sign).

32
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
33
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
34
NEURAL TUBE DEFECTSSpina bifida
Fetal Medicine
  • A variable degree of ventricular enlargement is
    present in
  • virtually all cases of open spina bifida at
    birth, but in only about
  • 70 of cases in the midtrimester

35
NEURAL TUBE DEFECTSEncephalocele
Fetal Medicine
  • Encephaloceles are recognised as cranial defects
    with herniated
  • fluid-filled or brain-filled cysts
  • most commonly found in an occipital location (75
    of the cases)
  • but alternative sites include the
    frontoethmoidal and parietal
  • regions

36
ENCEPHALOCELE - DEFINITION
Fetal Medicine
  • A neural tube defect affecting the skull
    resulting in the
  • herniation of the meninges and portions of the
    brain through a
  • bony midline defect in the skull.

37
NEURAL TUBE DEFECTSEncephalocele
Fetal Medicine
38
ENCEPHALOCELE - EPIDEMIOLOGY
Fetal Medicine
  • incidence 1/10th as common as spinal neural tube
    defects
  • risk factors
  • multifactorial inheritance pattern

39
ENCEPHALOCELE -associated anomalies
Fetal Medicine
  • 1. Syndromes
  • Dandy-Walker Syndrome
  • Klippel-Feil Syndrome
  • Meckel-Gruber Syndrome
  • rare autosomal recessive disorder
  • occipital encephalocele
  • associated with microcephaly, holoprosencephaly,
    cleft lip or palate, polydactyly, abnormal
    genitalia, polycystic kidneys
  • 2. Malformations
  • Arnold-Chiari malformation, porencephaly,
    agenesis of the corpus callosum, myelodysplasia,
    optic nerve dysplasia, cleft palate

40
ENCEPHALOCELE -PATHOGENESIS
Fetal Medicine
  • Background
  • two major forms of dysraphism affecting the
    skull
  • 1. Cranial Meningocele
  • consists of a CSF-filled meningeal sac only
  • skull equivalent of a spinal meningocele
  • 2. Cranial Encephalocele
  • portions of the brain found in the herniated
    meningeal sac
  • include cerebral cortex, cerebellum, brainstem,
    and/or ventricles
  • neural tissue within encephalocele is often
    abnormal
  • the amount of compromised and deformed neural
    tissue
  • determines the extent of cerebral dysfunction
  • brain tissue not extending into the encephalocele
    may be
  • structurally and functionally abnormal

41
Types of Encephaloceles
Fetal Medicine
  • 1. Notencephaloceles (75)
  • extend from the occipital region at or below the
    inion
  • 2. Sincipital Encephaloceles (25)
  • extend from the orbits, nose or forehead
  • occur most frequently in Asians
  • basal and transsphenoid encephaloceles
  • rare, arise between the ethmoid and sphenoid
    bones and may present as an intranasal mass
  • may extend into the upper pharynx
  • neuroendocrine disturbances if the encephalocele
  • involves the sella turcica or sphenoid sinus

42
CLINICAL FEATURES
Fetal Medicine
  • 1. Encephalocele
  • hernia may be a small CSF-filled meningeal sac or
    a large
  • cyst-like structure that may exceed the size of
    the head
  • may be covered with skin and/or membrane of
    varying
  • thickness - transillumination
  • - may show presence of neural tissue
  • - may be pulsatile
  • - covering may infarct and rupture -gt infection

43
CLINICAL FEATURES
Fetal Medicine
  • 2. Complications (Neural)
  • Arnold-Chiari Malformation - Type 3
  • an occipital encephalocele with a spina bifida
    over the
  • cervical area with protrusion of the cerebellum
    through
  • this opening
  • may be associated with hydrocephalus
  • Developmental delay
  • i.e., motor with weakness and/or spasticity,
    ataxia
  • mental retardation
  • microcephaly
  • seizures
  • visual problems
  • with occipital lobe involvement

44
INVESTIGATIONS
Fetal Medicine
  • Imaging Studies
  • 1. Ultrasound
  • will determine the contents of the encephalocele
  • can detect encephaloceles in utero
  • 2. CT/MRI
  • herniated brain tissue with a bony defect in the
    skull

45
Prenatal Diagnosis
Fetal Medicine
  • elevated maternal serum alpha-feto-protein (AFP)
  • level II ultrasound
  • amniocentesis - elevated AFP and
    acetylcholinesterase

46
MANAGEMENT
Fetal Medicine
  • 1. Surgery
  • correction is ineffective if the sac contains a
    significant
  • amount of brain tissue
  • shunting required if hydrocephalus
  • 2. Supportive
  • for complications
  • physiotherapy
  • anticonvulsants
  • ophthalmology follow-up

47
Fetal therapy
Fetal Medicine
  • There is some experimental evidence that in-utero
    closure of
  • spina bifida may reduce the risk of handicap
    because the amniotic
  • fluid in the third trimester is thought to be
    neurotoxic

48
NEURAL TUBE DEFECTSPrognosis
Fetal Medicine
  • Anencephaly is fatal at or within hours of birth
  • In encephalocoele the prognosis is inversely
    related to the
  • amount of herniated cerebral tissue
  • overall the neonatal mortality is about 40 and
    more that 80
  • of survivors are intellectually and
    neurologically handicapped
  • In spina bifida the surviving infants are often
    severely
  • handicapped, with paralysis in the lower limbs
    and double
  • incontinence
  • despite the associated hydrocephalus requiring
    surgery, intelligence may be normal

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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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Fetal Medicine
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