NS 2 - Developmental Diseases of The Nervous System v2023.02

Developmental Diseases
of the Nervous System

Dorotheo Floresca Jr. MD FPCP FPNA
Developmental Diseases of the Nervous System
Dorotheo Floresca Jr. MD FPCP FPNA
Craniospinal Deformities
Macrocephaly
Macrocephaly
CAUSES OF MACROCEPHALY
• Hydrocephalus
• Hydranencephaly
• Macroencephaly (enlarged brain)
 Alexander disease
 Canavan disease
 Tay-Sachs disease
• Agenesis of corpus callosum

• Subdural hematoma
• Constitutional (familial) macrocephaly
• Hemimegalencephaly
Hydrocephalus
• Bossing
• Sunset sign
• Thinning of scalp
• Prominence of scalp veins
• Separation of sutures
• “Cracked pot” sound
Hydranencephaly
• Fluid-filled cavities replace cerebral
hemispheres
• Cause
 Massive brain infarction from bilateral
carotid artery occlusion
 Primary agenesis of neural wall
Macrocephaly
• Large head with normal or slightly

enlarged ventricles
• Indicative of an advancing metabolic
diseases
 Alexander disease
 Canavan disease
 Tay-Sachs disease
Copyrights apply
Craniosynostosis
Craniosynostosis
Age of Suture Closure
26 months
22 months
24 months
Tower skull
Oxycephaly
Turricephaly
Acrocephaly
Scaphocephaly
Brachycephaly
Pathogenesis of Craniosynostosis
• Premature fusion of one or more cranial sutures
• Affects 1 in every 2000 to 2500 births worldwide
• Premature fusion restricts the growth of the skull perpendicular to the
affected suture
• In order to accommodate the growing brain, compensatory skull growth
occurs parallel to the affected suture
• Resulting skull deformity is dependent upon which suture(s) is/are affected
• Risk Factors:
 Multiple pregnancies
 Presence of uterine abnormalities (e.g. bicornuate uterus)
 Genetic
Disturbances of Neuronal Formation & Migration
Anencephaly
• Open defect in the calvaria and skin
• Severe defect
• Not compatible with survival
Pathologic Mechanism
of Anencephaly
• Acrania-exencephaly-anencephaly
sequence
 Failure of rotral neuropore to close
around postovulatory day 25
 Absence of skull, meninges, muscles
 Fetal brain protrudes outward and
exposed to amniotic fluid (Exencephaly)
 Destruction and degeneration of the brain
(Anencephaly)
Lissencephaly
• “smooth brain”
• Absent development of cortical gyri and
sulci gyration
• Agyria – complete
• Pachygyria – incomplete
• Lack of normal neuronal migration from
the ventricular surface to the cortical
plate
Holoprosencephaly
Lack of separation of the forebrain
Alobar Holoprosencephaly
• 2 hemispheres remain fused
Spectrum of severity
• Alobar
• Most severe
• Frontal regions fused
• Posterior region absent with large single
ventricle
• Semilobar
• Posterior regions separated
• Frontal cortical regions remain fused
• Lobar
• Less severe
• Small amount of nonfused cerebral cortex
Holoprosencephaly
• Lack of separation of the forebrain
 2 hemispheres remain fused Semilobar Holoprosencephaly
• Spectrum of severity
 Alobar
 Most severe
 Frontal regions fused
 Posterior region absent with large single
ventricle
 Semilobar
 Posterior regions separated
 Frontal cortical regions remain fused
 Lobar
 Less severe
 Small amount of nonfused cerebral cortex
Holoprosencephaly
Lack of separation of the forebrain
Lobar Holoprosencephaly
• 2 hemispheres remain fused
Spectrum of severity
• Alobar
• Most severe
• Frontal regions fused
• Posterior region absent with large single
ventricle
• Semilobar
• Posterior regions separated
• Frontal cortical regions remain fused
• Lobar
• Less severe
• Small amount of nonfused cerebral cortex
Holoprosencephaly
• Etiology
 Chromosomal anomalies
 Most common – trisomy 13
• Risk Factors
 Maternal diabetes (strongest association)
 Hypertension
 Fetal infections
 Salicylate
 Antiseizure medications
 Retinoids
 Fetal alcohol exposure
 Assisted reproductive technologies
Rachischisis
Rachischisis
• Cephalic and spinal meningocele, meningoencephalocele, Dandy-Walker
syndrome, meningomyelocele
• Chiari malformation
• Platybasia and cervical-spinal anomalies
Encephalocele
Eventration of brain tissue and its
coverings through an unfused mideline
defect in the skull
Encephalocele
• Frontal encephalocele may deform

forehead and remain occult
• Risk of meningitis
 Associated defects of
 Frontal cortex
 Anterior corpus callosum
 Optic-hypothalamic structions
 CSF leakage
Encephalocele
• Posterior encephalocele
 More severe
 Enormous
 Grave neurologic deficits
 Blindness
 Ataxia
 Cognitive impairment
Dandy-Walker Syndrome
Dandy-Walker Syndrome
Spina Bifida
Meningocele
• Protrusion of only the dura and
arachnoid through a defect in the
vertebral laminae forming a cystic
swelling
• Usually in the lumbosacral region
• Cord remains in the canal
Etiology of
Rachischisis
• Exogenous
 Inadequate intake of folate
 Certain antiseizure medications
(valproic/carbamazepine)
 Maternal diabetes
 Obesity
 Previous pregnancy with spina bifida (30x)
Chiari Malformation
Chiari type I Malformation
• Abnormally shaped cerebellar tonsils

 Displaced below the level of the
foramen magnum
Chiari type I Malformation
• Abnormally shaped cerebellar tonsils

 Displaced below the level of the
foramen magnum
Chiari type II Malformation or Arnold-Chiari Malformation
• Downward displacement of vermis and

tonsils
• Brainstem malformation with beaked

midbrain
• Spinal myelomeningocele
Chiari type II Malformation or Arnold-Chiari Malformation
• Downward displacement of vermis and

tonsils
• Brainstem malformation with beaked

midbrain
• Spinal myelomeningocele
Pathogenesis
• Molecular genetic theory
 Primary defects in the genetic programming of hindbrain segmentation and of growth of
associated bone and cranial structures
 Collision between caudally directed cranial growth and rostrally directed cervical growth
• Crowding theory
 Restricted growth of the posterior fossa causes compression of neural tissue, which is then
squeezed through the foramen magnum like toothpaste through a tube
• Hydrodynamic pulsion theory

 Early progressive fetal hydrocephalus pushes down on the brainstem and cerebellum
• Oligo-cerebrospinal fluid theory

 Defective closure of the neural tube in early fetal development results in leakage of
cerebrospinal fluid (CSF) and thus insufficient cerebrospinal volume to fully distend the
embryonic ventricular system, which leads to a small posterior fossa and cerebral
disorganization
Intellectual growth should
start at birth and cease only
at death.
Albert Einstein

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NS 2 - Developmental Diseases of The Nervous System v2023.02

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Developmental Diseases

of the Nervous System

• Agenesis of corpus callosum

• Large head with normal or slightly

• Frontal encephalocele may deform

• Abnormally shaped cerebellar tonsils

• Abnormally shaped cerebellar tonsils

• Downward displacement of vermis and

• Brainstem malformation with beaked

• Downward displacement of vermis and

• Brainstem malformation with beaked

• Hydrodynamic pulsion theory

• Oligo-cerebrospinal fluid theory

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