Daniel Barboriak, M.D.

Neuroradiology Division
Congenital Anomalies
of the Brain
Daniel P. Barboriak, MD
Department of Radiology
Duke University Medical Center
 Case 1
What is the differential?
What would path on bx show?
 Case 2
What is the diagnosis?

What clinical findings,

if any, can be
associated?
Case 3
Case 3
What is the diagnosis?

What kind of vascular study,

if any, would you
recommend?
 Congenital Diseases

• Disorders of Organogenesis
• Disorders of Histogenesis
(The Phakomatoses)
Disorders of Organogenesis
• Neural Tube Closure
• Neuronal Migration and Sulcation
• Diverticulation and Cleavage
• Posterior Fossa Disorders
 Disorders of
Neural Tube Closure
• Cephaloceles
• Chiari malformations
• Corpus callosum anomalies
• Neural tube insults
- Hydranencephaly
- Related: Dyke Davidoff Masson
 Disorders of Neuronal
Migration and Sulcation
• Lissencephaly
• Nonlissencephalic Cortical Dysplasia
(Agyria, Pachygyria, Polymicrogyria)
• Heterotopia
• Schizencephaly
• Unilateral Megalencephaly
Disorders of Diverticulation
and Cleavage

• Holoprosencephaly
• Septo-Optic Dysplasia
Cystic Disorders of the
Posterior Fossa

• Dandy-Walker Complex
- Malformation
- Variant
• Mega Cisterna Magna
• Arachnoid Cyst
Non-cystic Disorders of the
Posterior Fossa
• Joubert’s syndrome
• Rhombencephalosynapsis
• Lhermitte-Duclos disease
Disorders of Histogenesis:
The Phakomatoses
• Neurofibromatosis: Types 1 and 2
• Tuberous Sclerosis
• Sturge - Weber Syndrome
• Von Hippel - Lindau Syndrome
 Neurofibromatosis - Type 1
• Diagnostic Criteria: 2 or more:
- Café au lait spots (>5 mm), 6 or more
- Neurofibromas, > 2, or plexiform
neurofibroma
- Axillary or inguinal freckling
- Optic Nerve Glioma
- Lisch nodules of iris, > 2
- Characteristic osseous dysplasia
- First degree relative with NF
Neurofibromatosis - Type 2
• Bilateral VIII nerve masses, or,
• First degree relative with NF and
- Unilateral VIII nerve mass, or 2:
»Neurofibromas
»Meningiomas
»Gliomas
»Schwannomas
»Juvenile lens opacity