Introduction to CNS

Macrocephaly and Hydrocephalus

Microcephaly

Abdelsattar Elsayeh
Assistant prof. of Pediatrics, Al-Azhar University
 Normal head size
• Normal head circumference at birth: 34-35cm
• Rate of growth of head circumference :
2 cm / month at 1st three months of life
1cm / month > 4 – 6 months of age
0.5 cm / month > 6 – 12 months of age
47 cm at 1 year of age
49 cm at 2 years of age
 Macrocephaly (Large Head)

• Head circumference is above the

97th percentile for age & sex.
 Causes of Macrocephaly:
Cranial Intracranial
 Familial large head  Hydrocephalus
 Rickets  Hydranencephaly
 Chronic hemolytic  Megalencephaly
anemia  Causes of ↑ICT
 Cretinism  Tumor
 Osteogenesis  Mass (tuberculoma)
Imperfecta  Chronic abscess
 Achondroplasia  Hemorrhage
 Hydrocephalus
• Definition:
• Dilatation of the
ventricular system due to
either obstruction of CSF
flow within the ventricular
system or interference
with its absorption in the
subarachnoid space.
Cerebrospinal Fluid (CSF) Circulation
 Types & Etiology:
Obstructive hydrocephalus:
• Congenital:
– Congenital absence of foramina of Monro.
– Aqueduct of Sylvius's stenosis.
– Malformation of vein of Galen.
– Dandy walker malformation: membrane at the outlet of the 4th ventricle) →
cystic expansion of the 4th ventricle that compress the cerebellum.
• Traumatic:
– Intra-ventricular hemorrhage.
• Inflammatory:
– Post meningitic gliosis.
– Viral infection (Mumps).
• Neoplastic:
– Brain tumor (posterior fossa tumors).
 Types & Etiology:

Non obstructive (communicating) hydrocephalus:

• Impaired absorption of CSF:
• Congenital: Arnold chiari malformation: obstruction
of subarachoid pathway around the brain stem by
downward displacement of medulla and cerebellum
usually with meningomyelocele.
• Traumatic: subarachnoid hemorrhage.
• Inflammatory: post meningitic gliosis
• Overproduction of CSF: Choroid plexus adenoma.
 Clinical Picture
Before closure of sutures and fontanels (infancy):
• General Examination:
• Progressive increase in all skull diameters.
• Scalp skin: thin and shiny.
• Scalp veins: prominent.
• Anterior fontanel: widely opened, tense or bulging.
• Sutures: widely separated
• Macewen (cracked pot sign): resonant note on percussion
due to suture separation.
• Craniotabes.
• Eye: Sunset appearance with a rim of sclera above the iris +
forward & downward displacement of the globes.
 Head examination
• Inspection
– The size: Head circumference
– Shape
– Scalp
• Palpation
– Overriding of the cranial sutures
– Cranial defects or craniotabes
– Fontanels
• Auscultation for Cranial bruits
 Clinical Picture

• Back Examination:
Meningocele or
meningomyelocele (Arnold-
Chiari malformation).
 Clinical Picture
• Neurological:
– Motor system: spasticity of limbs due to
compression on motor area or long tract.
– Power: diminished.
– Reflexes: exaggerated.
– Cranial nerves: Optic atrophy in chronic cases + 6th
nerve palsy +/- Convulsions.
 Clinical Picture
After closure of sutures (older children):
• Head enlargement is less marked due to
closure of anterior fontanel.

• Signs of increased ICT are marked

• Variable neurological deficits.

 Manifestation of increased ICP
• Infants
– Irritability (excessive crying, high pitched cry), lethargy, difficult
to soothe
– Progressive head enlargement
– Poor feeding
• Child
– Headache
• Morning----Continuous----Diffuse, bursting
• Not relieved by analgesic----Increased by mild coughing or
straining
– Vomiting
• Not related to meals--Usually projectile = not preceded by
nausea
– Squint/diplopia : 6th or 3rd nerve palsy
 Diagnosis
• Clinical assessment:
– Serial measurement of head circumference.
– Fundus examination.
• Imaging:
– X-ray skull:
• Infancy (before closure of suture): Craniofacial
disproportion and wide separation of sutures.
• Older children (after closure of sutures): silver
beaten appearance
• Cranial U/S (before closure of the fontanels)

– CT or MRI scan are the most important:

for degree of ventricular dilatation, site
of obstruction and to exclude brain
tumors.
 Diagnosis
Management:
• Therapy depends on the cause.
• Medical management including
the use of acetazolamide and
furosemide
• Surgery: a shunt operation is
performed
(ventriculoperitoneal).
 Microcephaly (Small Head)
Definition:
• Microcephaly is
defined as a head
circumference that
measures more than
3 SD below the mean
for age and sex.
 Causes

• 1ry (genetic microcephaly):

– Familial (AR) microcephaly: Severe mental
retardation, seizures, slanted forehead, prominent
nose and ears.
– Autosomal dominated (AD): mild mental
retardation, seizures. Mild slanted forehead,
prominent ears.
– Syndromes: Down, Edward syndromes.
 Causes
• 2ry (nongenetic microcephaly):
– Congenital (TORCH) infection.
– Radiation.
– Meningitis – encephalitis
– Drugs: fetal alcohol – hydantoin
– Severe malnutrition.
– Hypoxic Ischemic Encephalopathy (HIE)
– Metabolic: Phenylketonuria (PKU
 Diagnosis
• History: family history of CNS diseases, history of
repeated abortions.
• Examination:
–Head circumference (HC) at birth and
serial measurement later on
–HC of both parents
 Diagnosis
• Investigations:
– If the cause is unknown: determine the mother
serum phenylalanine level.
– Karyotyping
– Brain imaging: CT – MRI.
– Fasting serum and urine amino acid analyses
– TORCH screen
 Treatment
• Genetic and family counseling.

• Appropriate support for intellectual disability

• Treatment of seizures

• Physiotherapy.
Thank you