MICROCEPHALY

ALAO A. K. A.
5TH JULY 2008
 OUTLINE
INTRODUCTION
AETIOLOGY
CLINICAL FX
INVESTIGATIONS
MANAGEMENT
PREVENTION
 INTRODUCTION
Microcephaly is defined as a head
circumference that measures more
than three standard deviations below
the mean for age and sex. This
condition is relatively common,
particularly among the mentally
retarded population.
 INTRODUCTION(cont’d)
• ALL EXCEPT CRANISYNOSTOSIS RESULT
FROM FAILURE OF BRAIN GROWTH. THEY
ARE USUALLY INFLUENCED DURING
PREGNANCY LABOUR OR DURING THE
FIRST 2-3YRS OF LIFE AFTER WHICH
BRAIN GROWTH IS ALMOST COMPLETED
 AETIOLOGY
THE ARE OF 2 TYPES
PRIMARY OR GENETIC
SECONDARY
THIS CLASSIFICATION HELPS IN
MAKING A PRECISE DIAGNOSIS WHICH
IS IMPORTANT FOR GENETIC
COUNSELING AND FOR PREDICTION FOR
FUTURE PREGNANCIES.
 PRIMARY AETIOLOGIES
• Familial: refers to a group of conditions that
usually have no other malformations and
follow a mendelian pattern of inheritance.
This may be Autosomal dominant Recessive
• Chromosomal: are associated with a specific
genetic syndrome. Affected infants are
usually identified at birth because of a small
head circumference.
 PRIMARY AETIOLOGIES
CLINICAL FEATURES
1.Familial (autosomal recessive)
Typical appearance with slanted forehead,
prominent nose and ears; severely mentally
retarded and prominent seizures; surface
convolutional markings of the brain poorly
differentiated and disorganized cytoarchitecture.
2. Autosomal dominant:
Nondistinctive facies, up-slanting palpebral fissures,
mild forehead slanting, and prominent ears
• Normal linear growth, seizures readily controlled,
and mild or borderline mental retardation
 SYNDROMAL/CHROMOSOMAL
Down (21-trisomy):caused by triplication or translocation of
chromosome 21
• Incidence 1/800
• Abnormal rounding of occipital and frontal lobes and
a small cerebellum; narrow superior temporal gyrus,
propensity for Alzheimer's neurofibrillary alterations,
and ultrastructure abnormalities of cerebral cortex.
Edward (18-trisomy):Trisomy in Group E chromosomes (16–18);
• Incidence 1/6,500
• Low birthweight, microstomia, micrognathia, low-set
malformed ears, prominent occiput, rocker-bottom
feet, flexion deformities of fingers, congenital heart
disease, increased gyri, heterotopias of neurons
 Cri-du-chat (5 p-):
A disorder due to deletion of the short arm of
chromosome 5,
• Incidence 1/50,000
• Round facies, prominent epicanthic folds, low-set
ears, hypertelorism, and characteristic cry
• No specific neuropathology
Cornelia de Lange
• Prenatal and postnatal growth delay, synophrys, thin
down-turning upper lip
• Proximally placed thumb.
• Rubinstein-Taybi
• • Beaked nose, downward slanting of
palpebral fissures, epicanthic folds, short
stature with broad thumbs and toes
• Smith-Lemli-Opitz
• • Ptosis, scaphocephaly, inner epicanthic
folds, anteverted nostrils
• • Low birthweight, marked feeding problems
 SECONDARY AETIOLOGIES
1. Radiation
• Microcephaly and mental retardation most
severe if exposure before 15th wk of gestation
2. Congenital infections
 Cytomegalovirus
• Small for dates, petechial rash,
hepatosplenomegaly, chorioretinitis, deafness,
mental retardation, and seizures
• Central nervous system calcification and
microgyria
• Rubella
• • Growth retardation, purpura, thrombocytopenia,
hepatosplenomegaly, congenital heart disease,
chorioretinitis, cataracts, and deafness
• • Perivascular necrotic areas, polymicrogyria,
heterotopias, subependymal cavitations
• Toxoplasmosis
• • Purpura, hepatosplenomegaly, jaundice,
convulsions, hydrocephalus, chorioretinitis, and
cerebral calcification
• 3. Drugs
• Fetal alcohol
• • Growth retardation, ptosis, absent philtrum
and hypoplastic upper lip, congenital heart
disease, feeding problems, neuroglial
heterotopia, and disorganization of neurons
• Fetal hydantoin
• • Growth delay, hypoplasia of distal phalanges,
inner epicanthic folds, broad nasal ridge, and
anteverted nostrils
• 4. Meningitis/encephalitis
• • Cerebral infarcts, cystic cavitation, diffuse
loss of neurons
• 5. Malnutrition
• • Controversial cause of microcephaly
• 6. Metabolic
• • Maternal diabetes mellitus and maternal
hyperphenylalaninemia
• 7. Hyperthermia
• • Significant fever during 1st 4–6 wk has been
reported to cause microcephaly, seizures, and facia
anomalies
• • Pathologic studies show neuronal heterotopias
• • Further studies showed no abnormalities with
maternal fever
• 8. Hypoxic-ischemic encephalopathy
• • Initially diffuse cerebral edema; late stages
characterized by cerebral atrophy
 INVESTIGATION
• Laboratory investigation of a microcephalic child is
determined by the history and physical examination.
• MOTHER'S SERUM PHENYLALANINE: High
phenylalanine serum levels in an asymptomatic
mother can produce marked brain damage in an
otherwise normal nonphenylketonuric infant.
• KARYOTYPE: if a chromosomal syndrome is
suspected or if the child has abnormal facies,
short stature, and additional congenital
anomalies.
SREENING FOR STARCH INFECTIONS:
toxoplasmosis, rubella, cytomegalovirus, and herpes
simplex (TORCH) titers of the mother and child; and a
urine sample for the culture of cytomegalovirus.

SKULL XRAY: Craniostenosis or intracranial Calcification

CT SCANNING OR MRI: may be useful in identifying
structural abnormalities of the brain or intracerebral
calcification.
Additional studies include a fasting plasma and urine
amino acid analysis; serum ammonium determination;
 MGT
REASSURANCE IF FAMILIAL
RX D UNDERLYING AETIOLOGY
MGT OF MENTAL RETARDATION, SEIZURE
DISORDER AND DEVELOPMENTAL DELAY.
Genetic counseling if chromosomal
PREVENTION
GOOD ANTENATAL CARE to exclude alcohol,
smoking, intrauterine infection and treating
PKU