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

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

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

Diagnosis

* 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.

Treatment

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