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NEUROBEHAVIORAL AND SENSE SYSTEM (NBSS)

TUTOR GUIDE

WEEK I

CONGENITAL CASE OF MRS. NITA’S BABY

FACULTY OF MEDICINE | UNISBA 2011/2012


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Synopsis

Case of baby Nita

Nita, a second child born to a 32 years old mother. Prenatal care was not sought until 32 weeks
gestation. Mother did not take any vitamins or folate supplements prior to that time. There is no family
history of recurrent abortions, consanguinity, or mental retardation. The infant is delivered spontaneous
with Apgar score of 7 & 9, term, birth weight 3,1 kg , head circumference 35 cm. A translucent
membrane sac overlying the mid lumbar region is noted, there is no leaking of cerebrospinal fluid.
Lower extremity movement was not as vigorous. A head ultrasound study shows mild hydrocephalus,
MRI at lumbo sacral region shows spina bifida and meningomyelocele. The baby sent home
immediately with advice to come to the polyclinic for follow up visit in one week.

5 months later she is brought to the pediatric clinic after her mother concerned because her girl has
always seemed weak for his age and that his head seems to be progressively swelling, increasing out of
proportion to the rest of his body. In addition, her strength and degree of development does not seem to
follow that of her older brother. There is no recent history of vomiting, irritable or poor appetite.
Exam: VS T 37.2, P 100, RR 38, BP 75/55. Height 64 cm (25%ile), weight 6.8 kg (25%ile), and head
circumference 45 cm (98%le). He is not irritable, but he does not move about much. Diffuse hypotonia
is obvious upon visual inspection and the child is lethargic and inactive. His anterior fontanelle is open
and rather large for age. No abnormal facies was noted. Deep tendon reflexes are very brisk (3+) and
there is a positive Babinski sign bilaterally. Some primitive reflexes were demonstrable ( palmar grasp
reflex, asymmetric tonic neck reflex, and Landau reflex)

A CBC and chemistry panel are normal. A CT scan of the brain shows the ventricles I, II, III are dilated
(hydrocephalus). After her parents agrees, he is taken to the operating room for insertion of a
ventriculoperitoneal shunt and close the meningomyelocele.

(epilog)

After she is recovered from surgery, she sent to a team for a comprehensive, multidisciplinary team
approach. This team include pediatricians, neurosurgeons, urologists, orthopedists, physical therapists,
occupational therapists, social workers, and special education teachers.

CASE OBJECTIVES
After completing the case the student should be able to:
1. Describe the neuroembryology
2. Describe the genetic programming (molecular genetic regulation of neural tube) of the
nervous system
3. Describe the embryology and development of skull and vertebrae
4. Describe the anatomy of the cerebrum, diencephalon, cerebellum and spinal cord
5. Describe the anatomy of ventricle, physiology and pathway of cerebrospinal fluid (CSF)
6. Describe the etiology of nervous system malformation
7. Describe the etiology of hydrocephalus
8. Describe the pathogenesis, pathology of hydrocephalus, spina bifida and
myelomeningocele
9. Recognize the clinical manifestation related to hydrocephalus, spina bifida and
meningomyelocele.
10. Describe the physiology and anatomy of motor pathway
11. Describe the physiology and anatomy of deep tendon reflexes
12. Explain the physiology of primitive reflexes of the newborn and infant
13. Describe the gross and fine motor developmental milestone
14. Describe the definition of cerebral palsy and evolution of motor patterns in cerebral palsy
15. Describe the clinical manifestation and classification of cerebral palsy
16. Interpret head ultrasound, CT scan finding of hydrocephalus and spina bifida,
meningomyelocele
17. Describe the management of hydrocephalus, spina bifida and meningomyelocele.
18. Explain the comprehensive management of cerebral palsy
19. Explain the prognosis of cerebral palsy
Case 1 - Congenital | 1
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CASE 1 : Malformation of the CNS

Nita’s mother, a 32 year old came to a maternal clinic, she was not sought for prenatal care until 34
weeks gestation. Mother did not take any vitamins or folate supplements prior to that time. There is no
family history of recurrent abortions, consanguinity, or mental retardation. The infant is delivered
spontaneous with Apgar score of 7 & 9, term, birth weight 3,1 kg , head circumference 35 cm. A
translucent membrane sac overlying the mid lumbar region is noted, there is no leaking of
cerebrospinal fluid. Lower extremity movement was not as vigorous. A head ultrasound study shows
mild hydrocephalus, MRI at lumbo sacral region shows spina bifida and meningomyelocele.

What are the problem of Nita ?


Generate a list of Hypothesis and state the rationale for each !

Tutor guide :
Problem :
1. No vitamin and folate acid supplement during pregnancy
LI - Risk factor of congenital CNS malformation
- Nutrition in pregnancy
- Embriology of CNS
- Etiology of CNS malformation
- Pathogenesis and pathology of spina bifida and meningomyelocele
2. Translucent membrane sac on mid lumbar region
- spina bifida : anatomy of medulla spinalis, vertebrae and peripheral nerve
- meningomyelocele : anatomy of meningen, CSF pathway
- the pathogenesis, pathology related
- clinical manifestation related
- if the CSF leaking what is the risk
3. Hydrocephalus :
- ontogenesis and physiology of CSF
- anatomy of ventricle and pathways
- anatomy of the cerebrum, diencephalon, brain stem and cerebellum
- pathogenesis and pathology of hydrocepahalus
- clinical manifestation of hydrocephalus

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5 months later she is brought to the pediatric clinic after her mother concerned because her girl has
always seemed weak for her age and that her head seems to be progressively swelling, increasing out of
proportion to the rest of his body. In addition, her strength and degree of development does not seem to
follow that of her older brother. There is no recent history of vomiting, irritable or poor appetite.
Exam: VS T 37.2, P 100, RR 38, BP 75/55. Height 64 cm (25%ile), weight 6.8 kg (25%ile), and head
circumference 45 cm (98%le). She is not irritable, but she does not move about much. Diffuse
hypotonia is obvious upon visual inspection and the child is lethargic and inactive. Her anterior
fontanelle is open and rather large for age. No abnormal facies was noted. Deep tendon reflexes are
very brisk (3+) and there is a positive Babinski sign bilaterally. Some primitive reflexes were
demonstrable ( palmar grasp reflex, asymmetric tonic neck reflex, and Landau reflex)

What are Nita’s problems ?


How has this information changed your hypothesis?
What additional information do you need to deal with this case?

Tutor guide
- increasing head circumference ( progression of hydrocephalus )
- sign and symptom of increased intracranial pressure
- Anatomy of the skull – vertebrae, fontanele and suture
- Normal Child development ( gross motor and fine motor )
Case 1 - Congenital | 2
- Cerebral Palsy sign and symptom, definition, evolution of motor pattern
- Motor pathway (corticospinal tract, basal ganglia, thalamus, cerebellum)
- Deep tendon reflex, reflex arc
- Upper motor neuron lesion, sign and symptom
- Primitive reflex, physiology

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Exhibit
- X ray of the skull
- CT scan of the head

Radiological findings :
(Plain x ray of the skull showed enlargement of all sutures,Head CT scan was performed
demonstrated a peripheral 1,5 cm mantel brain parenchyma and marked hydrocephalus (Ventricle
I,II,III). Plain x-ray of lumbosacral region showed bone defect at the level of Lumbar IV – Sacral I)

How has this information changed your hypothesis?


What additional information do you need to deal with this case?

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A CBC and chemistry panel are normal. A CT scan of the brain shows the ventricles are dilated
(hydrocephalus). After her parents agrees, she is taken to the operating room for insertion of a
ventriculoperitoneal shunt and close the meningomyelocele.

How has this information changed your hypothesis?


What is the medicolegal aspect you will suggest in this case?

Tutor guide
- Inform consent of surgery
- VP shunt – mechanism
- Management of spina bifida meningomyelocele
- Prognosis of CNS malformation
- Late complication ( tethered cord, epilepsy, CNS infection )
- Comprehensive management of CP
- Prognosis of CP

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EPILOGUE

Her clinical course has remained stable, there has been neither increased neurologic impairment nor
any improvement.

Case 1 - Congenital | 3
TUTOR GUIDE FROM ANATOMY DEPARTMENT

A. THE PYRAMIDAL OR CORTICOSPINAL TRACT

The pyramidal system is composed of the upper motor of the internal capsule. After passing through the internal
neurons in the cerebral cortex. Their axons pass without capsule, the pyramidal tract enters the cerebral crus, where iti is
interruption to lower motor neurons or their interneuronal pools located in the middle third. The cerebral crus is said to contain
for the purpose of initiating and regulating voluntary movements about 20 million fibers; only a minority of these,1 to 2 million, are
(especially the more skilled movements). Most pyramidal corticospinal fibers. Most of the others are corticopontine fibers
system neuronal cell bodies are located in the precentral gyrus that are associated with the cerebellar system.
and anterior part of the paracentral lobule.
At the caudal end of the midbrain, the pyramidal tract
Axons of the pyramidal system destined for the spinal separates into bundles, which enter the basilar part of the pons.
motor nuclei form the pyramidal or corticospinal tract,those These bundles are separated from one another by the pontine
destined for brainstem motor nuclei form the corticobulbar (or nuclei and the transversely directed pontine fibers. As the
corticonuclear) tract. pyramidal bundles descend through the pons, they gradually
move closer together, so that on entering the medulla, they
The pyramidal tract arises from upper motor neurons
again form one bundle, the medullary pyramid (after which the
mostly in the primary motor area located in the precentral gyrus
pyramidal tract was named).
and anterior part of the paracentral lobule. A large number of
neurons in the premotor area, immediately anterior to the The pyramid extends through the rostral two thirds of
primary motor area, and the primary sensory area in the the medulla. In the caudal third of the medulla, its fibers cross in
postcentral gyrus and the posterior part of the paracentral lobule the pyramidal decussation. Here, the decussating fibers
also contribute fibers. Whether the neurons in the primary (ordinarily composing about 90% of the pyramidal tract), pass
sensory are should be considered “upper motor neurons” is dorsolaterally and form the lateral corticospinal tract, which
questionable because their function is to modulate secondary descend through all spinal cord levels in the dorsal half of the
sensory neurons in the spinal cord. lateral funiculus. The uncrossed pyramidal fibers continue
directly into the anterior funiculus of the spinal cord as the
Those corticospinal neurons influencing the upper
ventral corticospinal tract (usually limited to the cervical
limb are located in the more dorsal parts of the precentral
segments). Most fibers of the ventral corticospinal tract
gyrus,where contralateral upper limb movements are
decussate in the ventral white commisure at the level at which
represented. The corticospinal neurons influencing the lower
they terminate. They bilaterally innervate the most medial motor
limb are located in the anterior part of the paracentral
nuclei, which supply paraxial mucles that act in unison with each
lobule,where contralateral lower limb movements are
other. As far as the limbs are concerned, the corticospinal tracts
represented.
should be considered completely crossed.
After leaving the cortex, the pyramidal tract axons
descend through the corona radiata to reach the posterior limb

B. THE CORTICOBULBAR OR CORTICONUCLEAR TRACT

The corticobulbar tract is formed from the upper motor neurons located primarily in the ventral part of the precentral
gyrus, the face region of the motor cortex. The corticobulbar tract accompanies the pyramidal tract through the corona
radiata and the internal capsule.
Below the internal capsule the corticobulbar fibers are difficult to identify. Some descend in relation to the
corticospinal fibers; others descend within the tegmentum of the pons and medulla. As the corticobulbar tract passes
caudally through the brainstem, it continuously gives off fibers to the various motor nuclei of the cranial nerves.
Limb movements are controlled by the contralateral cerebral cortex. However, muscles on both sides of the trunk or
head that ordinarily act in unison are influenced by the motor cortex of both sides. Thus, the motor nuclei associated with
mastication, deglutition, phonation, and lingual movements are influenced by corticobulbar fibers arising from both the
contralateral and ipsilateral hemispheres. As a result, unilateral lesions of the corticobulbar tract above the level of the facial
nucleus are manifested by abnormalities that are most pronounced in the lower part of the face contralaterally. Because the
cerebral cortex exerts a more powerful influence even on contralateral muscles that work in unison with their homologues on
the opposite side, transient contralateral abnormalities may occur after acute unilateral cortical or capsular lesions. Such
transient abnormalities occur especially in the case of the soft palate and tongue.
The nuclei innervating the external ocular muscles are not under the direct influence of the cerebral cortex.
Voluntary eye movements are so intricate that they are controlled by cortical centers, which influence specialized gaze
centers in the brainstem.

C. THE CRANIAL NERVES

The cranial nerves contain sensory or motor fibers or a combination of these fiber types. Cranial nerves are bundles of processes
from neurons that innervate muscles or glands or carry impulses from sensory areas. They were named cranial nerves because they
emerge through foramina or fissures in the cranium (skull) and are covered by tubular sheaths derived from the cranial meninges.

Case 1 - Congenital | 4
The twelve pairs of cranial nerves are numbered I through XII,
from anterior to posterior, according to their attachments to the
brain:
Cranial nerves carry one or more of the following six functional
 The Olfactory nerve (CN I) originates in the olfactory
components:
mucosa in the roof of the nasal cavity and along the nasal
septum and medial wall of the superior concha (turbinated  Somatic motor (general somatic efferent) axons innervate
bone); it ends in the olfactory bulb, the rostral end of the the striated muscles in the orbit and the tongue, which are
olfactory tract that attaches to the base of the forebrain not derived from the embryonic pharyngeal (branchial)
arches.
 The Optic nerve (CN II) originates from ganglion cells in the
neural retina and extends from the posterior aspect of the  Branchial motor (special visceral efferent) axons give rise to
eye to the optic chiasm. From the chiasm, the axons of the cranial parasympathetic system that eventually
retinal ganglion cells continue as the optic tract, which ends innervates certain smooth muscles and glands
in the diencephalon – the part of the forebrain composed of
the epithalamus, dorsal thalamus, subthalamus, and  Visceral sensory (general visceral afferent) fibers convey
hypothalamus. visceral sensation from the parotid gland, carotid body and
sinus, middle ear, pharynx, larynx, trachea, bronchi, lungs,
 The Oculomotor nerve (CN III) and Trochlear nerve (CN IV) heart, esophagus, stomach, and intestines as far as the left
attach to the midbrain (mesencephalon). colic flexure; this sensory information does not normally
reach consciousness.
 The Trigeminal nerve (CN V) attaches to the pons – the part
of the braistem between the medulla oblongata caudally and  General sensory (general somatic afferent) fibers transmit
the midbrain rostrally. CN V emerges by two roots, sensory general sensation (e.g.,touch, pressure,heat,cold,etc) from
and motor. the skin and mucous membranes, mainly through CN V but
also through CN VII, CN IX, and CN X; these sensations
 The Abducent nerve (CN VI), the Facial nerve (CN VII), and
may or may not be experienced consciously.
the Vestibulocochlear nerve (CN VIII) attach to the junction
between the pons and medulla.  Special sensory (special visceral afferent) fibers transmit
sensations of taste and smell, and special somatic afferent
 The Glossopharyngeal nerve (CN IX), the Vagus nerve (CN
fibers serve the special senses of vision, hearing, and
X), the cranial root of the Accessory nerve (CN XI), and the
balance.
Hypoglossal nerve (CN XII) attach to the medulla; however
the spinal root of CN XI arises from the superior part of the
spinal cord.

Some cranial nerves are whole sensory, others are whole motoric, and several are mixed. Four cranial nerves (CN III, CN VII, CN IX,
and CN X) contain presynaptic parasympathetic axons as they emerge from the brainstem.
The fibers of cranial nerves connect centrally to cranial nerve nuclei – groups of neurons in which sensory or afferent fibers terminate
and from which motor or efferent fibers originate. Except for the olfactory areas of CN I, the nuclei of cranial nerves are located in the
brainstem. Nuclei with general somatic and visceral motor components and with general somatic and visceral sensory components
correspond to functional columns of the spinal cord.

D. VENTRICULAR SYSTEM OF THE BRAIN


Notes: CSF in the ventricles and subarachnoid space surrounding the brain provides
protective cushioning for the brain against the forces associated with surface contact pressure
and sudden movement.

THE VENTRICULAR SYSTEM Body. The body of each lateral ventricle extends
from the foramen of Monro to the splenium of the corpus
The ventricular system consists of a lateral ventricle
callosum. Like the frontal horn, the septum pellucidum
in each hemisphere, a third ventricle in the diencephalons, and
continues as the medial border of the ventricular body, and the
a fourth ventricle in the hindbrain between the cerebellum and
ventricular roof remains bounded by the corpus callosum.
the pons and rostral medulla. The cerebral aqueduct, in the
Laterally, the ventricular body is adjacent to the body of the
midbrain, connects the third and fourth ventricles.
caudate nucleus, and its floor is formed by the thalamus with
the fornix, choroids plexus, and thalamostriate vein visible on
the surface.
LATERAL VENTRICLES Trigone. The trigone or atrium is the most expanded
The lateral ventricles (left and right) are divided into part of the lateral ventricle. As the name implies, it is triangular
five specific parts : anterior or frontal horn, body, trigone, shape. Anteriorly, it is related to the fornix and pulvinar. The
posterior or occipital horn, and inferior or temporal horn. trigone contains an abundant tuft of choroids plexus, the
Anterior or frontal horn. The segment of the lateral glomus, along its anterior wall, which is continuous with the
ventricle anterior to the interventricular foramen (of Monro) is choroids plexus of the body and temporal horn.
called the anterior or frontal horn.medially, it is bounded by the Posterior or Occipital horn. The posterior or
septum pellucidum, fornix, and genu of the corpus callosum. occipital horn is within the occipital lobe and is the most
Laterally, the head of the caudate bulges into the frontal horn. variable part of the ventricular system. Medially, the calcar avis,
The floor of the frontal horn is the rostrum of the corpus formed by the calcarine fissure, bulges into the occipital horn.
callosum.
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Like the frontal horn, the occipital horn is also devoid of SUBARACHNOID SPACE AND CISTERNS
choroids plexus.
The subarachnoid space is continuous across the
Inferior or Temporal horn. Tne inferior or temporal
cerebral and cerebellar convexities and along the spinal cord.
horn is within the temporal lobe. It ends about 3 cm behind the
Extracerebral arteries and veins and cranial nerves are
temporal pole. Its roof is formed by the tapetum of the corpus
suspended in this space by web-like arachnoid trabeculations.
callosum medially, it is bounded by the tail of the caudate
In vivo, this space is distended with CSF, which bathes and
nucleus and the hippocampus, and it contains choroids plexus
nourishes the structures contained within. The subarachnoid
in its superior-medial aspect.
cisterns are expansions of the subarachnoid space, occurring
primarily along the ventral surface of the brain-stem and basal
INTERVENTRICULAR FORAMEN OF MONRO
forebrain. The CSF in the cisterns provides support and
The interventricular foramen is the passageway buoyancy for cerebral vessels and cranial nerves. The
between each lateral ventricle and the single third ventricle. subarachnoid cisterns are readily identifiable in vivo because
Bordering the interventricular foramen are the anterior tubercle they are filled with CSF. In the cadaver brain they are difficult to
or nucleus of the thalamus, septum pellucidum, column of the observe because they have collapsed.
fornix, and thalamostriate vein. Passing through the
Major subarachnoid cisterns include the:
interventricular foramen is the choroids plexus.
 Posterior cerebellomedullary cistern (cisterna magna)
– the largest of the cisterns – is between the
THIRD VENTRICLE cerebellum and the medulla and receives CSF from
the apertures of the 4th vebtricle.
The third ventricle is bordered bilaterally by the
thalamus and hypothalamus. Sometimes a connection between  Pontocerebellar cistern (pontine cistern) – a space on
the thalami, the interthalamic adhesion or mass intermedia, lateral aspects of the pons at its junction with the
bridges across the third ventricle. Anteriorly, the third ventricle cerebellum.
is bounded by the lamina terminalis with the anterior
commisure dorsal and the optic recess ventral. The floor of the  Interpeduncular cistern (basal cistern) – between the
third ventricle is formed by the infundibular recess and tuber cerebral peduncles of the midbrain and the structures
cinereum with the mamillary bodies posteriorly. The roof of the of the interpeduncular fossa – contains the cerebral
third ventricle is formed by the tela choroidea and contains the arterial circle (of Willis).
internal cerebral veins and choroids plexus. Posteriorly,  Chiasmatic cistern (cistern of optic chiasm) – inferior
suprapineal and infrapineal recesses are formed around the and anterior to the optic chiasm.
pineal gland with the posterior commisure inferior. The third
ventricle drains into a tubular canal, the cerebral aqueduct (of  Quadrigeminal cistern (cistern of the great cerebral
Sylvius). vein, superior cistern) – between the posterior part of
the corpus callosum and the superior surface of the
cerebellum.
CEREBRAL AQUEDUCT OF SYLVIUS
The cerebral aqueduct is located within the midbrain CHOROIDS PLEXUS
and connects the third and fourth ventricles. Its length is 1.5-1.8
cm, and its diameter is 1-2 mm. It is arched in a slightly dorsal Most CSF is secreted by the choroids plexus
direction. contained within the lateral, third, and fourth ventricles through
an energy-dependent secretory process. Some CSF is
produced by the flow of brain extracellular fluid across the
FOURTH VENTRICLE ependymal lining of the ventricular system. As a result of these
two methods of formation, CSF can be considered a plasma
The fourth ventricle is a single midline cavity whose ultrafiltrate that serves a role in maintaining a constant chemical
rhomboid-shaped floor is formed by the pons and rostral milieu for neurons.
medulla. It expands posteriorly in an inverted kite shape, with
its roof bounded by the superior and inferior medullary vela and
the superior cerebellar peduncles. Choroids plexus is attached CEREBROSPINAL FLUID CIRCULATION
to the inferior medullary velum and extends laterally through the
lateral apertures (foramina of Luschka) into the subarachnoid Cerebrospinal fluid circulates within the ventricles of
space at the origin of CN IX and CN X. The lateral borders of the brain and within the cranial and spinal subarachnoid space.
the fourth ventricle are the three cerebellar peduncles. A It is produced in lateral, third, and fourth ventricles and exits the
median aperture, the foramen of Magendie, empties into the ventricular system through the three openings in the fourth
vallecula, an anterior extension of the cisterna magnum. ventricle: the median aperture and paired lateral apertures.
After exiting the ventricular system, CSF enters the cisterns
around the lower and upper brainstem. From the cisterns, CSF
then flows along the convexity of the cerebrum to its absorption
site in the arachnoid granulations chiefly in the superior sagittal
sinus.

Case 1 - Congenital | 1
TUTOR GUIDE FROM PEDIATRIC DEPARTMENT (TUMBUH KEMBANG)

 Development in children consists of several aspects:


1. Motor development.
Motor development means physical movements through central nervous system activities,
peripheral nerves, and well-coordinated muscles. During the first 4 to 5 years of life, a child is
able to control gross movements involving mass activities such as walking, running, and
hopping. After 5, further control of coordination develops, the child is able to make movements
involving smaller muscle-groups, such as grasping, throwing and catching a ball, writing and
using utilities.

2. Speech development.
Speech is one of many forms of language, the most useful and extensively used form. Speech
is also the most difficult-to-learn skill.

3. Emotional development.
Emotion plays an important role in life, so it is important to know the development and impact
of emotion in the personal adaptation, general social emotions such as anger, fear and
emotions that accompanies fear, shyness, awkwardness, worries and anxieties, jealousy,
curiosity, joy and affection.

4. Social development.
Social development is about the ability to behave according to social expectancy. Social
development begins at early childhood, marked by social smile.
First social contact in babies is addressed to adults, then other babies and child. Social
behavior pattern, which is trained, forms the basic for future social development.

The other way, we can overview the milestones of development in the domain of gross and
fine motor, cognitive, emotional and communication development.

Table 1. Typical fine and gross motor development

2 months
 With ventral suspension, head in the same plane as body; lifts head on flexed forearms;
hands open 75% of the time; active grasp of a toy.
3 to 4 months
 With ventral suspension, head held up beyond body plane; lifts head and chest off flat
surface on extended forearms.
4 to 5 months
 Slight head lag on pull to sit, rolls over prone to supine, crude reach and grasp, hands with
midline play, toy to mouth, shakes rattle.
6 to 7 months
 Bears full weight on legs if held standing, sits with support, begins to support self leaning on
forearms.
8 months
 Independent sit, may assume quadruped position, good reach, developing palmar grasp
patterns, bangs toys, and takes 2 1-inch cubes.
9 to11 months
 Forward parachute, crawls, pincer grasp, pulls to stand, cruises, put small toy in container but
will not release.
12 to 14 months
 Pivots in sitting, attains independent walking (average 12 months, range 9 to 15 months),
releases toys into container, may show preference for one hand.
15 to 18 months
 Creeps up stairs, stoops and recovers, begin stiff runs, walks with pull toy, turn pages of a
book, scribble in imitation and then spontaneously.
24 months
 Walks up and down stairs, rarely falls, kicks large ball, tower of 6 cubes, turns door knob,
overhand throw.
3 years
 Pedals a tricycle, stands on one foot for one second, jumps from bottom of step, unbuttons,
zips, unzips, tower on 9 to 10 cubes.

Case 1 - Congenital | 1
4 years
 Stands on one foot for 5 seconds, hops on one foot, buttons clothes, pour from pitcher.
4 ½ years
 Heel to toe maneuver, catches a bouncing ball.
5 to 7 years
 Skips, ties shoe laces, copies or writes first name, ride a two-wheeler.
Taken from Lanphear, 2001.

Table 2. Normal developmental milestones for speech and language development

2 months
 Watches the speaker’s face.
 Cries are differentiated by needs.
 Coos with vowel sounds.
4 to 6 months
 Localizes to sound.
 Coos with intonation.
 Vocalizes in response to others.
6 to 9 months
 Responds to name.
 Recognizes names of family members.
 Responds to simple commands accompanied by a gesture.
 Uses gestures for communication (pointing, reaching, waving for hi/bye).
 Imitates actions (as in peek-a-boo).
 Babbles using early developmental consonants (b, m, w, d, n, g).
10 to12 months
 Begins to point to some body parts following a command.
 Follows simple one part command.
 Gives objects to others on verbal request.
 Jargons with different sound combination.
 May begin to use first words.
12 to 18 months
 Can identify objects and pictures following a verbal command.
 Follow commands easily.
 Listens more to the meaning of conversations.
 Use several single words.
 Communicates with a combination of words and a gesture.
18 to 24 months
 Understands concepts (adjectives, pronouns, plurals).
 Follows compound and complex commands.
 Use two- to three-word combinations.
 Tries to tell about experiences.
 Begins to use more speech sounds, such as fricatives (f, s, sh)
2 to 3 years
 Shows interest in explanations for why and how questions.
 Uses phrases and short sentences for communication.
 Begins to use more complex morphologic and syntactic forms.
 Speech is intelligible most of the time.
3 to 4 years
 Uses long and structurally complex sentences.
 Tell stories and related experience from the past.
 Error in syntax, include regularization of irregular forms.
 Speech is intelligible to all listeners, although minor articulation errors are noted.

Taken from Kummer, 2001.

Case 1 - Congenital | 2
Table 3. Developmental milestones for cognitive in the first 2 year of life

2 months
 Stares momentarily at a spot where object disappeared (e.g. yarn ball dropped).
4 months
 Stares at own hands.
8 months
 Bangs two cubes.
 Uncovers toys (after seeing it hidden)
12 months
 Egocentric pretend play (e.g. pretends to drink from cup).
17 months
 Uses sticks to reach toy.
 Pretend play with doll (gives doll bottle).
Adapted from Needleman, 2000.

Language and speech disorders also are features of neurologic diseases.


Children who have severe cerebral palsy may have problems with language or the production
and coordination of speech sounds

From the neonatal period, children show interest in human voices and face in
preference or other stimuli, preferences that forge the building blocks of communicative
development.

By about 2 to 3 months of age, an infant begins to use his or her voice to make
melodic vowel sounds called cooing. Shortly thereafter, they begin to enter into reciprocal
vocal exchanges with their caregivers.

By about 6 months of age, the child adds consonants to vowels, creating syllables
known as babble. Also at about 6 months of age, children show emerging abilities to
understand elements of the sound stream, responding appropriately to their name and to the
word "no."

By 8 to 10 months of age, children can use verbal cues for practiced routines, such as
"wave bye-bye." Expressive communication at that age includes ma-ma or da-da, first used
nonspecifically and then for the parent. Children begin to communicate nonverbally by
pointing.

At around the first birthday, babble becomes increasingly complex jargon, sounding
like adult language in terms of the variety of speech sounds and the intonation patterns.
Simultaneously, children begin to understand and use real words. Throughout the second
year, they are capable of understanding far more than they can produce.

Case 1 - Congenital | 3
Case Based Pediatrics For Medical Students and Residents
Department of Pediatrics, University of Hawaii John A. Burns School of Medicine

Chapter XVIII.16. Developmental Brain Anomalies


Kaipo T. Pau
December 2002

This is an 5 month boy who is brought to the emergency room after his mother noted that he had a
seizure. His mother adds that she is also concerned because her son has always seemed weak for his
age and that his head seems to be progressively swelling, increasing out of proportion to the rest of his
body. In addition, his strength and degree of development does not seem to follow that of his older
brother. There is no recent history of fever, vomiting, diarrhea, poor appetite or urinary abnormalities.

He is the second child born to 31 year old parents. There is no family history of recurrent abortions,
consanguinity, or mental retardation. Pregnancy was uncomplicated and he was born with a weight of
2500 g, a length of 47 cm, a head circumference of 32 cm, and Apgar scores of 8 and 9.

Exam: VS T 37.2, P 100, RR 38, BP 75/55. Height 64 cm (25%ile), weight 6.8 kg (25%ile), and head
circumference 45 cm (98%ile). He is subdued in no distress. He is not irritable, but he does not move
about much. Diffuse hypotonia is obvious upon visual inspection and the child is lethargic and inactive.
His head is macrocephalic. His anterior fontanelle is open and rather large for age. Abnormal facies
showing a short nose with nostrils displaced forward is noted. Deep tendon reflexes are very brisk (3+)
and there is a positive Babinski sign bilaterally. His eyes are opened wide and a downbeat nystagmus is
present.

A CBC and chemistry panel are normal. A CT scan of the brain shows a smooth appearance of the
cerebral cortex, with shallow sulci and thick gyri (pachygyria). The ventricles are dilated
(hydrocephalus) and a Chiari malformation obstructing CSF outflow is noted. After his mother agrees,
he is taken to the operating room for insertion of a ventriculoperitoneal shunt.

Although the incidence of nervous system malformations in living newborns is 1%-3%, such
malformations are present in 40% of infant deaths. The etiologies associated with developmental
anomalies may result from a variety of insults from genetic to environmental. Abnormalities associated
with the neural tube and the neural plate generally occur within the first 28 days of gestation. On the
other hand, abnormalities associated with cellular proliferation and migration in the CNS generally
occur after the 28th day of gestation. This chapter will cover malformations associated with both of
these periods. Included among these malformations are Arnold-Chiari malformations and a group of
disorders collectively referred to as neuronal migration defects (1).

Professor Hans Chiari, a German pathologist described a group of malformations characterized by the
displacement of the cerebellum. He classified the manifestations into types based on the order of
increasing severity (type I being least severe) and these became known as Chiari malformations (2). Of
note, type II Chiari malformations (CM) are also known as the Arnold-Chiari malformation. However,
other publications use "Arnold Chiari" malformations as the umbrella term for the four types of
cerebellar displacement. This chapter will look at the Chiari malformations that are more commonly
seen (1,3).

Type I CM is defined as a caudal displacement of the cerebellar tonsils below the foramen magnum by
5 mm. Hydrocephalus is present in 90% of patients and syringomyelia may also be present. Patients
may live asymptomatically up until the third or fourth decade of life or later, when signs and symptoms
of this disorder may present. The presentation is dependent upon the degree of the abnormality and
associated manifestations, on neural structures. These can include lower cranial neuropathies, downbeat
nystagmus, ataxia, vertigo, vocal cord paralysis, and eye movement abnormalities (3). Additional
skeletal anomalies include scoliosis (especially from syringomyelia) and skull base abnormalities (2).
The differential diagnosis of type I can vary tremendously, depending on the neural structures involved.
Case 1 - Congenital | 4
A diagnosis of type I can be made on the basis of imaging (MRI is preferred) along with clinical
information. Treatment is done surgically by cervical bony decompression of structures in the foramen
magnum and along the spinal cord if necessary. This process involves removal of bone (usually by
cutting through bones of the spine). Relief of signs and symptoms related to the compression of the
brain stem is better than those related to the spinal cord (2). Treatment of hydrocephalus involves
finding an alternative route of drainage of the cerebrospinal fluid in the ventricles. This is usually
accomplished by a ventriculoperitoneal shunt (4). Successful interventions may allow the individual to
have normal mental development, if there are no additional CNS malformations (2).

Type II (Arnold-Chiari) malformation is the commonest type of CM malformation (4). It is manifested


by an increased caudal displacement of the cerebellum into the foramen magnum, along with the lower
brainstem. Myelomeningocele is usually associated with this type II malformation usually resulting in
hydrocephalus (80% or more). There is an increased likelihood to develop hydrocephalus if the
meningomyelocele is more rostral. As in type I, the presentation of signs and symptoms depends upon
the degree of the abnormality and associated manifestations, on neural structures. Symptoms related to
hindbrain dysfunction may develop which include difficulty feeding, choking, stridor, apnea, vocal
cord paralysis, pooling of secretion, and spasticity of the upper extremities. An increased head
circumference may be present due to hydrocephalus. Ventricular enlargement may be slow or rapid and
cause a bulging anterior fontanel, dilation of scalp veins, irritability, and vomiting. Diagnosis is the
same as type I but a more severe displacement is seen, and a myelomeningocele is usually obvious on
gross inspection. Treatment is done surgically to repair the myelomeningocele and to relieve the
hydrocephalus. Bony decompression may also be performed. Prognosis depends on the site and
severity of myelomeningocele. Improved prognosis is associated with a more caudal lesion. It is also
advisable to recommend a multivitamin with folate for expectant mothers to reduce the risk of
subsequent neural tube defects (3).

Type III (rare) CM is characterized by a cerebellar displacement into an occipital encephalocele. An


occipital encephalocele is a defect in the closure of the neural tube near the base of the skull, a
condition known as occipital encephalocele. Prognosis is poor (4).

Neuronal migration defects form a group of developmental brain anomalies. Abnormal cerebral cortical
development is generally viewed as an improper migration of neural tissue. In other words, neurons fail
to reach their destination in the cortex in the period of cortical neurogenesis beginning around 10 to 12
weeks of gestational age or earlier. Environmental factors such as retinoic acid, radiation, and
methylmercury have been implicated in the pathogenesis. Viral infections in utero are also known to
result in migrational abnormalities, although the mechanism of action is unknown. The abnormalities,
which may present together, can be grouped into three general categories. They include
lissencephaly/pachygyria, polymicrogyria, and heterotopia.

It is thought that lissencephaly and pachygyria are different representations of the same manifestation.
Lissencephaly (means smooth brain) refers to a more diffuse bilateral brain abnormality and
pachygyria (thick gyri) is a more focal or multifocal abnormality. The basic abnormality, seen on
imaging and on gross pathologic examination, is the smooth surface of the cerebral cortex. The cortex
is also noticeably thickened with a relative abundance of gray matter, compared to white matter which
is variably preserved. There are at least 2 types of lissencephaly (2).

Autosomal and X-linked forms of type I lissencephaly have been identified, but this type may also be
associated with other syndromes such as the Miller-Dieker Syndrome (about 15% of cases) (5). A
cross-section of the brain reveals an extremely thick cortex organized into four abnormal layers, rather
than the usual six. In type I lissencephaly, seizures and severe mental/psychomotor retardation are
present. Most cases of type I present in the neonatal period with marked hypotonia, and later with
weakness in all four extremities. In the Miller-Dieker syndrome, characteristic facial features are
present in childhood and include a prominent forehead, bitemporal hollowing, a short nose with
anteverted nostrils, a prominent upper lip, and jaw abnormalities. Lissencephaly as an isolated
abnormality is distinguished from the Miller-Dieker Syndrome based on these facial characteristics.
Diagnosis of lissencephaly is based on the smooth surface finding along with a widely opened Sylvian
fissure on neuroimaging. Cytogenetic studies may often reveal a deletion on the LIS-1 (lissencephaly
gene) in chromosomal region 17p13.3. Treatment of the disorder involves seizure medications and

Case 1 - Congenital | 5
supportive care. The prognosis for type I lissencephaly, when associated with other entities, is
generally poor and many patients do not survive into childhood.

The inheritance for type II is autosomal recessive but there has not been any association with a specific
gene or locus. In contrast to type I, type II lissencephaly is often associated with congenital muscular
dystrophies that often involves the eyes as well. Examples are the Walker-Warburg syndrome and the
Finnish muscle-eye-brain disorder. In type II lissencephaly the surface of the cerebral cortex usually
presents as a diffuse smooth brain appearance. A cross-section reveals an increased thickening of grey
matter. Clinical manifestations, when seen with associated muscular dystrophies will involve
abnormalities of muscle and CNS development. This may include neonatal hypotonia and eye
abnormalities (e.g., retinal dysplasia, cataracts, microphthalmia), and joint contractures. Laboratory
results reveal elevated creatine kinase levels (from the muscular dystrophy). Diagnosis is made by
careful examination of the MRI of the cortex. Treatment and prognosis of type II is basically the same
as in type I.

Polymicrogyria (also known as microgyria, meaning small gyri) is also considered to be a migrational
disorder (defects seem to occur between week 17 to 18 and weeks 24 to 26 gestation). Unlike
lissencephaly and pachygyria, the border between the polymicrogyria and normal cortex is distinct.
Polymicrogyria usually reveals a cerebral cortex with a complex set of small gyri appearing fused
together. This gives the surface of the cortex a fine stubbling appearance. A number of malformations
and abnormalities have polymicrogyria as one part of an overlying CNS manifestation. For instance the
polymicrogyria-schizencephaly complex is a disorder with clinical features including delayed
development, pyramidal signs, motor speech dysfunction and epilepsy. Schizencephaly (means cleft
brain) is the presence of fused or unfused, unilateral or bilateral clefts within the cerebral hemispheres
as a result of abnormal morphogenesis (3). Polymicrogyria presents with psychomotor retardation and
frequent focal seizures. The differential diagnosis for this disorder can include Aicardi's, Neu-Laxova,
Zellweger, and Smith-Lemli-Opitz syndromes. Removal of a focal area of polymicrogyria may be
curative. Multifocal removal may result in improved seizure control. The prognosis is variable, but
usually poor.

Cerebral heterotopia are defined as focal or multifocal disorganized nodules of gray matter at
inappropriate places in the cerebrum. The heterotopia may be found incidentally on imaging or there
may be associated clinical manifestations that present itself. The main presenting feature is a childhood
seizure disorder of various types including focal, multifocal, and generalized. Motor and mental
retardation may also be present depending upon the extent of the heterotopia abnormality. Focal area
heterotopia removal may improve seizures (2).

Questions

1. What is the most common type of Chiari malformation?

2. What CNS structure is displaced in Chiari malformations?

3. What are the 3 general categories of neuronal migration abnormalities?

4. What basic abnormality is revealed with lissencephaly on MRI imaging and gross inspection?

5. What other abnormalities are often found with type II Chiari malformations?

References

1. Hay WH, Hayward RH, Levin JL, Sondheimer JM. Chapter 22 - Neurologic & Muscular Disorders. In:
Moe PG, Seay AR (eds). Current Pediatric Diagnosis & Treatment, fifteenth edition. 2001, Philadelphia:
McGraw-Hill Companies, Inc., pp. 665-670.

Case 1 - Congenital | 6
2. Goetz CG, Pappert EJ. Chapter 28 - Developmental Structural Disorders. In: Golden JA, Bonnemann CG
(eds). Textbook of Clinical Neurology. 1999, Philadelphia: W.B. Saunders Company, pp. 523-527.

3. Goldman L, Bennett JC. Chapter 456 - Neurocutaneous Syndromes. In: Barkovich JA, Kuznieky RI (eds).
Cecil Textbook of Medicine, 21st edition. 2000, Philadelphia: W.B. Saunders Company, pp. 1805, 1810,
2075-2076.

4. Rudolph CD, Rudolph AM. Chapter 25 - The Nervous System. In: Pleasure D, De Vivo DC (eds).
Rudolph's Pediatrics, 21st edition. 2001, Philadelphia: McGraw-Hill Companies, Inc., pp. 2186-2188.

5. Haslam RA. Chapter 601 - Congenital Anomalies of the Central Nervous System. In: Behrman RE,
Kleigman RM, Jenson HB et al (eds). Nelson Textbook of Pediatrics, sixteenth edition. 2000, Philadelphia:
W.B. Saunders Company, pp. 1806-1807.

Answers to questions

1. Type II (Arnold-Chiari malformation).

2. Cerebellum.

3. Lissencephaly/pachygyria, polymicrogyria, heterotopia.

4. Smooth surface of the cerebral cortex.

5. Myelomeningocele and hydrocephalus.

Case Based Pediatrics For Medical Students and Residents


Department of Pediatrics, University of Hawaii John A. Burns School of Medicine

Chapter XVIII.10. Neural Tube Defects


Mari Uehara, MD
October 2002

A C-section is scheduled for a 16 year old G1P0 mother at 37 weeks. Prenatal care was not sought until 32
weeks gestation. Mother did not take any vitamins or folate supplements prior to that time. Initial prenatal lab
studies were significant for an elevated alpha fetoprotein. A prenatal ultrasound done at 34 weeks demonstrated
a meningomyelocele. No hydrocephalus was noted at that time. A neurosurgeon was consulted. A C-section is
scheduled to deliver the infant as non-traumatically as possible with the availability of the neurosurgeon close
by.

At delivery, the infant is delivered with Apgar scores of 7 and 8. Birthweight is 3.2 kg. A translucent membrane
sac overlying the mid-lumbar region is noted. It is leaking xanthochromic fluid. Upper extremity movement is
noted to be good, but lower extremity movement is not as vigorous. The infant is transferred to the NICU where
vascular access is obtained and initial stabilization measures are performed. Five hours later, the infant is taken
to the operating room where a neurosurgeon closes the meningomyelocele defect over the lower back. Post-
operative recovery in the NICU is unremarkable. Lower extremity movement is moderate. A head ultrasound
study shows mild hydrocephalus. Two months later, the hydrocephalus is worsening on ultrasound, so a VP
shunt is surgically placed.

Neural tube defects (NTDs) are a group of birth defects which are associated with a defective closure of the
neural tube and the subsequent development of the central nervous system (brain and spinal cord). It is one of the
most common birth defects occurring in approximately 0.7-1.0 per 1000 live birth each year (1,2). There are
three types of NTDs: anencephaly, encephalocele, and spina bifida. Spina bifida, the most common NTD, means
"split spine" in Latin and is a result of failure of the neural tube to close during the 3rd-5th week of pregnancy.
Case 1 - Congenital | 7
The terminology can be confusing since multiple terms have been used for various conditions depending on the
extent of the involvement of the spinal cord and surrounding structures.

Spinal dysraphism and spina bifida apply to a heterogeneous group which has defects of closure affecting the
spinal canal (which may encompass the meninges and spinal cord itself in addition to bony vertebral elements).
Myelodysplasia refers to defects of spinal cord development, which commonly occurs with spina bifida;
however not necessarily associated with failure of fusion of the arches of the vertebral spine, so this could
include entities such as syringomyelia and diastematomyelia. Spina bifida occulta is the simple failure of fusion
of the spinal arches (i.e., bony involvement only), such that the neural elements are covered by skin and do not
protrude above the level of the back. Occult spinal dysraphism means that spina bifida occulta is present with
overlying cutaneous markers such as dimple, fistula, hair patch, and hemangioma. These markers may indicate
the presence of cord tethering with a lipoma or a dermoid cyst. Spina bifida cystica is the commonest type of
NTD which includes meningocele, meningomyelocele/myelomeningocele, lipomyelomeningocele. A
meningocele is a lesion which does not involve neural elements in the cystic outpouching of the meninges.
Meningomyelocele or myelomeningocele means that dysplastic neural elements protrude through the unfused
vertebral arches. It can be completely covered with meninges and skin (closed meningomyelocele) or there may
be a connection of spinal fluid to outside (open meningomyelocele). Lipomeningocele and
lipomyelomeningocele are closed meningomyelocele with overgrowth of fatty tissue involving the meninges
alone or including the spinal cord. The term spina bifida is ambiguous in that it is often used to describe
conditions from spina bifida occulta to spina bifida with myelomeningocele.

The manifestations of the spina bifida depend on the level of the spinal cord involvement at which neural tube
closure was incomplete. The lesion is located in lumbosacral area in more than 80% of the cases (3).

Children with the less common thoracic lesions, have flaccid paralysis of lower extremities with variable
weakness in abdominal and trunk musculature. These defects are frequently associated with serious
complications (e.g., respiratory compromise). Children with high lumbar lesions (L1, L2) have flaccid paralysis
of knees and ankles and may walk with extensive braces and crutches. Children with midlumbar lesions (L3)
have paralyzed ankles and toes. These children can accomplish independent ambulation with braces. Children
with low lumbar lesions (L4, L5) often have weak ankle and toe mobility. They are particularly prone to ankle or
foot deformities and often need orthosis for independent ambulation.

Bladder and bowel problems are present in more than 90% of children with meningomyelocele regardless of the
level of lesion (1). Some children may have problems with bladder emptying, while others may have problems
with storing the urine adequately. Despite the type of neurogenic bladder, it is crucial to prevent urinary tract
infections and protect the upper urinary tract since renal failure is one of the important causes of death among
these children. Bowel continence requires normal external sphincter control, internal sphincter reflex relaxation,
rectal sensation and colonic motility. Lack of sensation and inability to control external sphincters makes these
children unable to sense or control stool passage. Bowel management programs with regularly scheduled
toileting, use of stool softeners, and dietary measures (i.e., additional fiber) are important to avoid constipation
and soiling.

Spina bifida is often not only an isolated birth defect of the spinal cord and spine, but there commonly are
associated congenital malformations of the brain. Hydrocephalus is a major complication of meningomyelocele
and is present at birth in 85-95% of cases as shown by ultrasonography (3,4). These children with hydrocephalus
require ventriculoperitoneal shunt (VP shunt) placement. Shunt malfunction and infection are frequent
complications and most children eventually require shunt revision (30-40% within one year of insertion of the
shunt). Lethargy, vomiting, irritability, bulging and tense fontanelle, and headache, are common symptoms of
shunt malfunction. Seizures also occur in up to 17% of the children with meningomyelocele and almost always
occur in those with hydrocephalus (5).

Arnold-Chiari II malformation (the cause of the hydrocephalus) is present in the majority of children with
meningomyelocele. The cerebellum and medulla oblongata are shifted caudally, so this resultant packing into the
cervical spinal canal results in deformation. The symptoms are due to progressive hydrocephalus (if untreated)
and dysfunction of the lower cranial nerves, respiration and swallowing. Hydrocephalus occurs in most children
secondary to aqueductal stenosis or obstruction to CSF flow around the medulla.

Any clinical changes in children with meningomyelocele should prompt a search for an underlying cause. By far,
the most common cause of deterioration is shunt malfunction. Another important cause is tethering of the spinal
cord. Up to one third of children with myelodysplasia may experience spinal cord tethering. A tethered spinal
cord results from traction on the conus medullaris and cauda equina, which causes spinal cord stretching and
ischemia with subsequent loss of neurological function. Symptoms of a tethered spinal cord include spasticity,
weakness, decreased sensation in the lower extremities, changes in urinary and bowel functions, or back pain,

Case 1 - Congenital | 8
progressive scoliosis and foot deformity. Some children with occult spinal dysraphism (i.e., no overlying
meningomyelocele) are asymptomatic and truly have an occult spinal cord condition. An MRI scan will identify
the spinal abnormality. Surgery is indicated in symptomatic patients. Prophylactic intervention among
asymptomatic children can prevent the long-term disabilities associated with this condition.

Mastery of bowel and bladder continence is crucial to optimal functioning and is of the major importance for
social acceptance. The voiding program may include medications, intermittent catheterization, and possibly
operative reconstruction. Clean intermittent catheterization is the most commonly used method to help urinary
continence. It is used to remove residual urine, improve urinary drainage, and provide decompression. The goal
is to have this task accomplished by early school age. A child's physical abilities and psychological readiness for
toileting should be assessed and continued assistance may be necessary for some children.

Children with physical disabilities are often described by their disabilities, and not by their strengths or abilities,
which are also important. Children with spina bifida are often automatically placed in regular classes or classes
for children with orthopedic problems. Although this is frequently the best placement, there are children whose
orthopedic problems are secondary and their learning disability associated with spina bifida may be the major
disability. Children with spina bifida and hydrocephalus may have problems with motor skills, attention,
memory and organization. These issues should be understood and addressed in the Individualized Education
Program (IEP).

Latex allergy has been common among children with spina bifida (about 20-70%) (6). Although the cause of
latex allergy in children with spina bifida is not known, it may be due to the early, intense, constant exposure to
rubber products among these children. Latex comes from the sap of the rubber tree Hevea brasiliensis. After the
commercial purification process there are small amount of residual proteins that could cause allergy symptoms
ranging from mild skin rashes or sneezing to hives, respiratory distress and anaphylactic shock. Many products
contain rubber components of which we are unaware and environmental exposure to rubber products in both the
community and hospital is widespread (e.g., rubber bands, erasers, gym mats, certain paints and glues, elastic
waist or leg bands in clothing and disposable diapers). There are some food items (e.g., bananas, avocado,
chestnuts) which can also cause cross-reactions. Prevention is the best approach. This allergic condition should
be documented on medical and school records, communication devices such as medical alert bracelet should be
provided as well as auto-injectable epinephrine as a part of the emergency plan for these children. In fact, it is
commonly recommended that all children with spina bifida and/or myelodysplasia be kept latex free even if
allergy has not yet been demonstrated.

The initial treatment for spina bifida is early surgical closure of the defect. Because of the multisystem
involvement of this condition as stated above, management of this condition requires a comprehensive,
multidisciplinary team approach. This team may include pediatricians, nurses, specialists (neurologists,
neurosurgeons, urologists, orthopedists, developmental-behavioral pediatricians), physical therapists,
occupational therapists, social workers, and special education teachers.

Alpha-fetoprotein (AFP) is elevated in maternal serum (MSAFP) and amniotic fluid (AFAFP) in open NTDs
such as encephalocele, meningomyelocele and anencephaly. It is also increased in other conditions such as
abdominal wall defects (gastroschisis and omphalocele). AFP becomes measurable in maternal serum at the end
of first trimester. Maternal blood sample measurements are collected between 16-18 weeks of gestation to
provide enough time for more definitive testing as necessary and to allow sufficient time for decision making
regarding continuation or termination of an affected pregnancy. The MSAFP level is affected by gestational age
and the number of fetuses. Elevated AFP level in amniotic fluid is more definitive than MSAFP, identifying 90-
95% of affected fetuses with open NTDs. Acetylcholinesterase assay is more specific for neural tissue with a
99% accuracy rate. Ultrasonography also has been increasingly accurate in prenatal diagnosis of fetal anomalies.

Folic acid is a synthetic compound used in dietary supplements and fortified foods. The term folate includes all
compounds that have the vitamin properties of folic acid (folic acid and naturally occurring compounds in food).
The average diet in the United States contains 200 microgram of naturally occurring folate, which is less
bioavailable than folic acid. Studies have demonstrated that 50% or more NTDs can be prevented if women
consume a folic acid supplement before and during the early weeks of pregnancy. The American Academy of
Pediatrics endorses the US Public Health Service recommendation that all women capable of becoming of
pregnant consume 400 microgram of folic acid to prevent NTDs.

Studies have shown improved long term outcome regarding ambulation, urinary continence, and social
continence of stool. One of the studies also showed that about 60% of children with spina bifida attended regular
school programs. These outcomes depend on the level of lesion and the severity of complications.

Case 1 - Congenital | 9
Questions

1. True/False: Vitamin supplementation prior to pregnancy has been found to reduce the risk of neural
tube defects.

2. True/False: Spina bifida patients have neurogenic bladders.

3. True/False: Hydrocephalus develops in meningomyelocele patients because of cord tethering.

4. True/False: Children with meningomyelocele have a high risk of developing latex allergy, therefore,
they should not be exposed to latex from birth.

5. True/False: High meningomyeloceles result in lower extremity paralysis, but most patients with low
lying meningomyeloceles are able to ambulate on their own or with assistive devices.

References

1. Liptak GS. Neural tube defects. In: Batshaw ML (ed). Children with disabilities, 4th edition. 1997, Baltimore: Paul H Brookes Pub Co.,
pp.529-552
2. American Academy of Pediatrics Committee on Genetics. Folic acid for the prevention of neural tube defects. Pediatrics
1999;104(2):325-327.
3. Jacobs RA. Myelodysplasia. In: Wolraich ML (ed). Disorders of Development and Learning, 2nd edition. 1996, St. Louis: Mosby, pp.
213-261.
4. Dias MS, Li V. Pediatric Neurosurgical Disease. Pediatr Clin North Am 1998;45(5):1539-1578.
5. Ashwal S. Congenital structural defects. In: Swaiman KF, Ashwal S (eds). Pediatric Neurology: Principles & Practice, 3rd edition. 1999,
St. Louis: Mosby, pp. 234-300.
6. Kumar S. Latex allergy. Pediatr Rev 1999;20(1):35.
7. Liptak GS. Neural tube defects in children with disabilities. In: Batshaw ML (ed). Children With Disabilities, 4th edition. 1997, Baltimore:
Paul H. Brookes Publishing Co., pp. 529-552.
8. Iqbal MM. Prevention of neural tube defects by periconceptional use of folic acid. Pediatr Rev 2000;21(2):58-66.
9. Spina Bifida Association of America, 4590 MacArthur Blvd., NW, Suite 250, Washington, DC 20007-4226, phone (800)621-3141, e-
mail: sbaa@sbaa.org

Answers to questions

1. True. Folate supplementation prior to pregnancy and in early pregnancy reduces the risk of neural
tube defects.

2. True, in that nearly all patients with myelodysplasia have bladder/bowel dysfunction; however,
patients with spinal bifida occulta may only have a vertebral anomaly, without myelodysplasia, in
which case, their bladder function will be normal.

3. Controversial question, but probably false. The hydrocephalus is usually due to a Arnold Chiari
malformation in the brain (the other end of the neural tube) which results in hydrocephalus. It is
probably not cord tethering which causes the hydrocephalus.

4. True.

5. True.

Case 1 - Congenital | 10

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