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[Microcephaly].

Hugo A Arroyo¹

¹Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

|September 11, 2018

Summary

This summary is machine-generated.

Microcephaly, a neurological sign indicating a small head circumference, presents diagnostic challenges. Recent epidemics like Zika virus highlight the need for updated diagnostic criteria and a multidisciplinary approach for affected children.

Keywords:

acquired microcephaly congenital microcephaly genetic infectious microcephaly

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Area of Science:

Neurology
Genetics
Pediatrics

Background:

Microcephaly is defined as a head circumference more than two standard deviations below the mean for age and gender.
It serves as a critical neurological sign and predictor of future disability.
Diagnostic challenges arise from varying head circumference reference standards and recent concerns, such as the Zika virus epidemic, necessitating updated criteria.

Purpose of the Study:

To review diagnostic criteria for microcephaly, considering universal growth curves and recent epidemics.
To outline the classification, etiology, symptoms, and prognosis of microcephaly.
To emphasize the importance of a comprehensive evaluation and multidisciplinary approach for affected children.

Main Methods:

Review of diagnostic criteria and classification of microcephaly.
Discussion of etiological factors, including genetic causes and prenatal infections.
Highlighting the role of neuroimaging (MRI) and genetic testing (array-CGH, exome sequencing) in diagnosis.

Main Results:

Classification into congenital and postnatal microcephaly aids in defining etiology, symptoms, and prognosis.
Genetic causes and prenatal infections are frequent etiologies, though a cause remains unidentified in approximately half of cases.
Advanced techniques like comparative hybridization genomic array (array-CGH) and full exome sequencing are increasingly valuable.

Conclusions:

Accurate diagnosis and classification of microcephaly are crucial for understanding etiology and prognosis.
A thorough evaluation involving history, clinical examination, MRI, and genetic studies is essential.
Children with microcephaly may experience diverse complications, necessitating a lifelong multidisciplinary care approach.