Microcephaly
Microcephaly: Excerpt from In A Page: Pediatric Signs and Symptoms
Microcephaly is defined as head circumference 2 standard deviations (SD) below the mean for age. Most questions about microcephaly arise within the first 2 years of life. Using neurologic and developmental assessments as guides, one can classify microcephaly as benign or pathologic.
Differential Diagnosis
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Benign familial
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Hypoxic ishemic encephalopathy
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Intrauterine infection (TORCH)
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Teratogens
–Ethanol
–Cocaine
–Isotretinoin
–Phenytoin
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Down syndrome
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Trisomy 13
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Trisomy 18
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Lissencephaly
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Holoprosencephaly
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Anencephaly
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Porencephaly
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Intrauterine stroke
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Malnutrition
–Typically preceded by decreased weight and height velocities
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Growth hormone deficiency
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Thyroid hormone deficiency
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Panhypopituitary
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Chromosomal deletions
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Smith-Lemli-Opitz syndrome (SLO)
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Menkes syndrome (kinky hair disease)
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Neuronal ceroid-lipofuscinosis
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Rett syndrome
–Normal head circumference at birth
–Acquired microcephaly after 6 months
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Incontinentia pigmenti
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Alper disease
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Phenylketonuria (PKU)
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Pelizaeus-Merzbacher
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Cri-du-chat syndrome
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Cornelia de Lange syndrome
Workup and Diagnosis
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Confirm and plot head circumference (HC)
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History
–Signs of neurologic dysfunction
–Developmental delay, paroxysmal movements
–Early hand preference
–Prenatal/birth history (gestational age, weight, HC)
–Family history of microcephaly
- Physical exam
–Measure parents’ HC and plot it on the chart
–Obtain previous HC measurements
–Deceleration of head growth is a more ominous sign than stably growing small head
–Plot weight and height; hormonal deficiency and malnutrition affect these parameters as well as HC
–Skin, eye (looking for TORCH, chorioretinitis infections), dysmorphic features, fontanelle size, hepatosplenomegaly
–Neurological and developmental assessment (differential diagnosis is dependent on normal vs. delayed)
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Labs
–TORCH titers, thyroid/GH levels, LFT
–Chromosomes, 7-dehydrocholesterol (high in SLO)
–Genetic testing for MECP-2, proteolipid protein
–Amino acids, copper (low in Menkes)
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Neuroimaging
–MRI is essential in diagnosis of structural
abnormalities of the microcephalic brain
Treatment
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Hormonal deficiency
–Treat with hormonal supplements immediately
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Smith-Lemli-Opitz
–Cholesterol supplementation helps with affect
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PKU
–Treat by dietary restriction of phenylalanine
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Menkes syndrome
–Treat with copper supplementation
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Other causes of syndromic or nonsyndromic microcephaly
–Most cannot be treated
–Management involves addressing neurologic
symptoms
–Anticipatory guidance to the caregivers
Book Source Details
- Book Title: In A Page: Pediatric Signs and Symptoms
- Author(s): Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
- Year of Publication: 2007
- Copyright Details: In A Page: Pediatric Signs and Symptoms, Copyright © 2007 Lippincott Williams & Wilkins.
More About Microcephaly
More Medical Textbooks Online about Microcephaly
Review other book chapters online related to Microcephaly:
Medical Books Excerpts
- Microcephaly
- "The Diagnostic Approach to Symptoms and Signs in Pediatrics" (2006)
- [ read ]
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: In A Page: Pediatric Signs and Symptoms
Authors: Jonathan E. Teitelbaum, Kathleen O. Deantonis, Scott Kahan
Publisher: Lippincott Williams & Wilkins
Copyright: 2007
ISBN: 1-4051-0427-9
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