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Microcephaly

Overview

Microcephaly describes a head size significantly below normal for a person\'s age and sex, based on standardized charts. Head size is measured as the distance around the top of the head.

Symptoms - Microcephaly

The list of signs and symptoms mentioned in various sources for Microcephaly includes the 11 symptoms listed below: * Small head circumference * Large face * Receding forehead * Loose scalp * Wrinkled scalp * Hyperactivity * Mental retardation * Convulsions * Impaired motor ability * Clumsiness * Spastic quadriplegia Note that Microcephaly symptoms usually refers to various symptoms known to a patient, but the phrase Microcephaly signs may refer to those signs only noticable by a doctor.

Causes - Microcephaly

Primary Causes: * Cornelia de Lange syndrome * Cri du chat syndrome * Down syndrome * Rubinstein-Taybi syndrome * Seckel syndrome * Smith-Lemli-Opitz syndrome * Trisomy 13 * Trisomy 18 Secondary Causes: * Uncontrolled phenylketonuria (PKU) in the mother * Methylmercury poisoning * Congenital rubella * Congenital toxoplasmosis * Congenital CMV * Use of certain drugs during pregnancy * Malnutrition

Prevention - Microcephaly

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Diagnosis - Microcephaly

* Measurehead circumference, weight, and height at each well-child visitusing growth charts published by the CDC (2001). * If these measurementsare proportional, child most likely is small in size and does not haveprimary abnormality in brain growth. * Head circumference that is proportionallysmaller than weight and length usually signifies primary decreasein brain growth or secondary process (e.g., hypoxic-ischemic encephalopathyor infection). * History of microcephaly in family memberssuggests genetic disorder, which is important for genetic counseling. * History of maternal drug or alcoholingestion, maternal phenylketonuria, or other disorders should beclarified. * Presence of dysmorphic features suggestschromosomal or malformation syndrome, and chromosomal karyotypeshould be determined. * Skull radiographs help diagnose craniosynostosis.CT and MRI can diagnose structural defects in brain development. * Presence of other findings helps diagnosevarious infections.

Prognosis - Microcephaly

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Treatment - Microcephaly

The list of treatments mentioned in various sources for Microcephaly includes the following list. Always seek professional medical advice about any treatment or change in treatment plans. * Symptomatic and supportive * Hormonal deficiency –Treat with hormonal supplements immediately * Smith-Lemli-Opitz –Cholesterol supplementation helps with affect * PKU –Treat by dietary restriction of phenylalanine * Menkes syndrome –Treat with copper supplementation * Other causes of syndromic or nonsyndromic microcephaly –Most cannot be treated –Management involves addressing neurologic symptoms –Anticipatory guidance to the caregivers

Resources - Microcephaly

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