Massive Intracranial Fluid Collections

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Massive Intracranial Fluid Collections

• Alok Kumar M.D.
• July 8, 2004

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Case Presentation

• 20 y/o G2P1001 _at_ 34 2/7 weeks transferred from
  St. Francis for preterm labor and severe fetal
  hydrocephalus.
• POBHx Term SVD, no complications
• History otherwise unremarkable

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Preliminary USG

• Polyhydramnios
• Severe Hydrocephalus
• Probable holoprosencephaly vs.
• Arnold-Chiari type 2 malformation

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Case Sonograms
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Case Sonograms
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Case Sonograms
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Differential Diagnosis
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Massive Hydrocephalus

• Usually secondary to an obstructive phenomenon
• Aqueductal stenosis
• Not cerebral malformation such as Arnold-Chiari
  type II malformation.

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CSF Flow
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Dangling Choroid Plexus
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Holoprosencephaly

• Spectrum of cerebral and facial malformations
• Absent or incomplete division of embryonic
  forebrain, the prosencephalon.
• During 3rd week of gestation.
• Cleavage abnormalities in both planes
• Sagittally resulting in fusion of cerebral
  hemispheres
• Horizontally resulting in abnormalities in optic
  and olfactory bulbs.

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Incidence

• True incidence unknown
• High incidence of early embryonic death
• Study of 36,380 SABs, prevalence was 40 per
  10,000
• California registry of birth defects 121 cases
  among 1,035,386 live births and deaths
• Of all cases 41 had chromosomal abnormalities
• Most commonly trisomy 13
• Empiric recurrence rate is 6 in non syndromic
  cases
• FemaleMale 31 for alobar holoprosencephaly

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Natural History

• Highly lethal during fetal life
• Est. 3 of conceptuses survive to live birth
• 89 perinatal mortality

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Holoprosencephaly

• Alobar midline structures are absent and no
  division of the hemispheres.
• Single common ventricle
• Fused thalami
• Virtually no cortical mantle
• Semilobar incomplete division of forebrain
  results in partial separation of the hemispheres
• Single horseshoe-shaped ventricle w/ much mantle
• Lobar normal cortical division and two thalami.
  
• Abnormalities in corpus callosum, septum
  pellucidum or olfactory tract or bulbs.

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Holoprosencephaly Facial Deformities
Fetology Diagnosis and Management of the Fetal
Patient 2000
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Alobar Holoprosencephaly
Diagnostic Obstetrical Ultrasound 1994
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Pregnancy Management

• Chromosome analysis (even in late pregnancy)
• Maternal evaluation for diabetes
• Fetal ECHO to r/o additional malformations.
• Non-aggressive management at birth
• Familial recurrences
• Family hx MR, cleft lip/palate, microceph, eye
  abn, flattening of midface, single central
  incisor
• Exposure to EtOH, salicylates.
• TORCH titers assoc of CMV with holopros

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Johnson Am J Med Genet 1989 34 250-264
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Newborn Treatment

• No perinatal survival for cyclopia, or severe
  defects.
• Expectation of severe MR in infants who survive
  with alobar holoprosencephaly.
• Potential for seizures, apnea, feeding
  difficulties, bonding difficulties.
• Chromosomal analysis if not done already.

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Distinguishing Features
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Hydranencephaly

• Cerebral hemispheres are virtually absent
• Replaced by membranous sacs of CSF
• Vascular injury bilateral in utero internal
  carotid artery infarction

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Reported Associations with Hydranencephaly

• Most are isolated cases with no additional
  abnormalities
• Infections
• CMV
• HSV
• Rubella
• Toxoplasmosis
• Chromosomal Trisomy 13

• Neoplasm rhabdoid tumor of brain
• Bleeding disorder Factor XIII deficiency
• Syndromes
• Agnathia malformation complex
• Hypoplastic thumbs
• Renal dysplasia
• Polycalbular heart defect

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Sonographic Findings

• Large cystic mass, no cerebral cortex
• Midbrain, basal ganglia, and posterior fossa are
  usually normal.
• Falx is usually present
• Macrocephaly secondary to continued CSF
  production
• Polyhydramnios

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Hydranencephaly
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Incidence

• 14,000 to 110,000 live births

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Pregnancy Management

• Accurate diagnosis hydranencephaly vs. extreme
  hydrocephalus
• MRI of fetus optional
• Serology for TORCH
• Chromosome analysis if other abnormalities are
  present

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Pregnancy Management

• Late termination is justified with reliable
  diagnosis of hydranencephaly
• Vaginal delivery preferable (cephalocentesis)
• Monitoring not indicated
• C/S not recommended
• ? Diagnosis delivery in tertiary-care setting
  with subspecialists.

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Newborn Treatment

• Poor long term outcome
• 50 mortality in 1 month 85 by 1 year
• Common symptoms include seizures, psychomotor
  retardation, increasing head size, spasticity.
• Shunting not indicated (unlike extreme
  hydrocephalus)

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Case Presentation

• Resolution of PTL
• Declined amniocentesis
• Active Labor at 37 2/7 weeks
• Classical C/S secondary to marked hydrocephalus
• Female infant 97oz, Apgars 8/8, severe
  hydrocephalus, cleft lip and palate
• Intubated and admitted to NICU
• VP shunt placed DOL 3
• Currently feeding, no seizures, on room air
• Chromosomes Pending

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Case Pictures
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Case Pictures