MICROCEPHALY AND

MACROCEPHALY

Presented by
Name: Sneha Senapati
Roll Number: 122016101124
INTRODUCTION
Microcephaly is defined as a occipitofrontal
circumference that measures more than three
standard deviation below the mean for given
age ,sex and gestation.
CLASSIFICATION
I. Primary microcephaly: It is used to describe condition associated with
reduced generation of neurons during neural development and migration.
a) Autosomal recessive
b) Autosomal dominant
c) X- linked
 Syndromes

II. Secondary microcephaly: It follows injury or insult to a previously normal

brain causing reduction in the number of dendritic processes and synaptic
connections.
Primary microcephaly
 Primary or genetic microcephaly is most often caused by genetic
abnormalities that interfere with the growth of the cerebral cortex.
 It is present at birth and associated with static anomaly of the brain.
 Inherited chromosomal anomalies
a) Autosomal recessive inheritance
 It is most common type
 The affected child inherits the abnormal gene from both the parents.
 The child has a typical appearance with slanted forehead , prominent
nose and ears , severe mental retardation and prominent seizures.
 Brain is small in size with small cerebral cortex.
Primary microcephaly (Cont.)

b) Autosomal dominant – rare

 The affected child inherits abnormal gene from one of the parents.
 The child has non-distinctive facies with upslanting palpebral fissures ,
hypertelorism , mild forehead slanting, prominent ears , short stature ,
weak eyes muscles.
 Mental retardation is not severe as that in autosomal recessive
microcephaly.
c) X- linked microcephaly – There is 25% chance of a son getting affected.
2) SYNDROMES
 Down`s syndrome ( 21-trisomy )
 Edward`s syndrome ( 18 –trisomy )
 Cri-du-chat syndrome ( 5p- )
SECONDARY MICROCEPHALY
It follows injury or insult to a previously normal brain causing reduction in the
number of dendritic processes and synaptic connections.

Difference between
Primary Microcephaly & Secondary Microcephaly
Secondary
Primary Microcephaly
Microcephaly
Low Crown, receeding
forehead. Occipital Small Head
flattening, wrinkling of skin

May be present at birth / evident

Present since birth
later
SECONDARY MICROCEPHALY CAUSES
 Isolated microcephaly: Autosomal recessive, autosomal dominant or X-linked
 Syndromic:
 Trisomies 21, 18, 13
 Monosomy 1p36 deletion
 Structural diseases: Neural tube defects (anencephaly, hydranencephaly,
encephalocele).
 Metabolic disorders: Phenylketonuria, methylmalonic aciduria
 Maternal: diabetes mellitus, untreated phenylketonuria.
 Infections:
 Congenital: Cytomegalovirus, herpes simplex virus, rubellavaricella, toxoplasmosis,
HIV, syphilis.
 Teratogens: Alcohol, tobacco, marijuana, cocaine.
 Perinatal insult: Hypoxic ischemic encephalopathy, hypoglycemia
 Endocrine: Hypothyroidism, hypopituitarism, adrenal insufficiency
SECONDARY MICROCEPHALY (Cont.)
INVESTIGATIONS :
 Screening for infections
 X-ray skull
 CT scan for calcifications
 MRI for structural abnormalities of brain
 Urine screening tests
 Thyroid screening tests
TREATMENT :
 Thyroxine replacement for hypothyroidism
 Nutritional supplementation
 Drugs to control seizures
 Genetic counselling
MACROCEPHALY
This is defined as occipitofrontal circumference more than two standard deviations above the
mean or beyond 97th percentile for normal population of same age, sex , race and region.
Causes:
 Megalencephaly
 Neurocutaneous syndromes: Neurofibromatosis, tuberous sclerosis,
 Leukodystrophies: Alexander, Canavan, megalencephalic leukoencephalopathy
 Increased cerebrospinal fluid:
Hydrocephalus
Benign enlargement of subarachnoid space.
 Enlarged vascular compartment:
Arteriovenous malformation
Subdural, epidural, subarachnoid or intraventricularhemorrhage
 Increase in bony compartment:
Bone disease: Achondroplasia, osteogenesis imperfecta
MEGALENCEPHALY
 It is a condition where the weight and size of brain is more than average for
the age and sex of the child .
 It may be associated with early onset childhood seizures, motor deficit ,
mental retardation.
 Megalencephaly may be seen in following conditions :
 Neurocutaneous syndromes :
 Tuberous sclerosis
 Neurofibromatosis
 Metabolic disorders :
 Leukodystrophy
 Lipidosis
INVESTIGATIONS :
Screening for infections – toxoplasmosis
X ray skull
CT scan
MRI should be done for structural abnormalities of
brain .

TREATMENT :
It is symptomatic and supportive and depends on
the cause .
Anticonvulsants should be given for seizures
HYDROCEPHALUS
 Hydrocephalus refers to accumulation of CSF with in the ventricles or cavities of brain
due to either of these – increased production of CSF , obstruction to its flow or
failure of its absorption in arachnoid villi .
AETIOLOGY :
1 ) Congenital causes :
a) Intrauterine infections –
 Toxoplasmosis
 Cytomegalovirus
b) Congenital malformation :
 Brain stem malformation
 Congenital malformation
2 ) Acquired causes :
 Infections
 Inflammation – brain abscess
 Post haemorrhagic hydrocephalus
CLINICAL FEATURES :
SYMPTOMS :
 Headache and vomitings
 Blurred vision
 Drowsiness
 Horizontal diplopia
 Difficulty in walking
SIGNS :
 Sutural separation can be seen
 Sunset sign – due to failure of upward gaze of supranuclear origin
 Scalp veins are dilated
 Skin over scalp is thinned
 High pitched cry
INVESTIGATIONS :
 TORCH screening
 CSF analysis
 X ray skull
 Ultrasonogram in infants
 CT scan
 MRI
 Angiography
TREATMENT :
1 ) MEDICAL TREATMENT :
 Acetazolamide
 Loop diuretics – Furosemide
 Combination of acetazolamide and furosemide is helpful .
2 ) SURGICAL TREATMENT :
 Shunt procedures – Ventriculoperitoneal shunt , ventriculoatrial shunt.
Thank You.